| - GRCh37:
- Chr22:38516859
- GRCh38:
- Chr22:38120852
| PLA2G6 | R318Q, R324Q, R372Q, R496Q, R550Q | not provided, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14 | Uncertain significance
(Jul 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508551
- GRCh38:
- Chr22:38112544
| PLA2G6 | A520S, A568S, A692S, A514S, A746S | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy | Uncertain significance
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38531035
- GRCh38:
- Chr22:38135028
| PLA2G6 | R59H, R285H, R107H | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516823
- GRCh38:
- Chr22:38120816
| PLA2G6 | E330G, E384G, E336G, E508G, E562G | Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B | Uncertain significance
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38512112
- GRCh38:
- Chr22:38116105
| PLA2G6 | V385I, V391I, V563I, V439I, V617I | Inborn genetic diseases, Infantile neuroaxonal dystrophy, not provided,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14
| Conflicting interpretations of pathogenicity
(Dec 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38516818
- GRCh38:
- Chr22:38120811
| PLA2G6 | | Neurodegeneration with brain iron accumulation 2B | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr22:38516832
- GRCh38:
- Chr22:38120825
| PLA2G6 | P327L, P333L, P381L, P505L, P559L | Neurodegeneration with brain iron accumulation 2B | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr22:38508553
- GRCh38:
- Chr22:38112546
| PLA2G6 | R513Q, R519Q, R567Q, R691Q, R745Q | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
not provided, Infantile neuroaxonal dystrophy | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38511611
- GRCh38:
- Chr22:38115604
| PLA2G6 | G421S, G427S, G475S, G599S, G653S | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration,
not specified | Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38525522
- GRCh38:
- Chr22:38129515
| PLA2G6 | V150fs, V198fs, V376fs | Neurodegeneration with brain iron accumulation 2B | Pathogenic
(Apr 29, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr22:38539240
- GRCh38:
- Chr22:38143233
| PLA2G6 | R161C | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
not provided, Infantile neuroaxonal dystrophy | Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38541475
- GRCh38:
- Chr22:38145468
| PLA2G6 | R132H | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Inborn genetic diseases | Uncertain significance
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38565318
- GRCh38:
- Chr22:38169311
| PLA2G6 | R39Q | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy | Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38511635
- GRCh38:
- Chr22:38115628
| PLA2G6 | R419*, R591*, R413*, R467*, R645* | Neurodegeneration with brain iron accumulation 2B | Pathogenic
(Sep 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:38528894
- GRCh38:
- Chr22:38132887
| PLA2G6 | A115T, A163T, A341T | PLA2G6-associated neurodegeneration, not provided, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B | Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38541551
- GRCh38:
- Chr22:38145544
| PLA2G6 | L107fs | PLA2G6-associated neurodegeneration, not provided, Neurodegeneration with brain iron accumulation 2B
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38509544
- GRCh38:
- Chr22:38113537
| PLA2G6 | A486T, A492T, A540T, A664T, A718T | Inborn genetic diseases, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
| Uncertain significance
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516764
- GRCh38:
- Chr22:38120757
| PLA2G6 | | Neurodegeneration with brain iron accumulation 2B | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr22:38512175
- GRCh38:
- Chr22:38116168
| PLA2G6 | L364F, L370F, L418F, L542F, L596F | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy | Uncertain significance
(Jul 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508547
- GRCh38:
- Chr22:38112540
| PLA2G6 | R515Q, R521Q, R569Q, R693Q, R747Q | Inborn genetic diseases, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, not provided, Infantile neuroaxonal dystrophy
| Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38522378
- GRCh38:
- Chr22:38126371
| PLA2G6 | T298I, T422I, T244I, T250I, T476I | PLA2G6-associated neurodegeneration, Inborn genetic diseases, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14, not provided,
Infantile neuroaxonal dystrophy | Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38529014
- GRCh38:
- Chr22:38133007
| PLA2G6 | R75C, R123C, R301C | Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14,
Neurodegeneration with brain iron accumulation 2B, not provided | Uncertain significance
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38539274
- GRCh38:
- Chr22:38143267
| PLA2G6 | | not provided, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B | Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38511697
- GRCh38:
- Chr22:38115690
| PLA2G6 | | Neurodegeneration with brain iron accumulation 2B | Pathogenic
(Dec 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr22:38541545
- GRCh38:
- Chr22:38145538
| PLA2G6 | H109D | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration,
Infantile neuroaxonal dystrophy, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38565418
- GRCh38:
- Chr22:38169411
| PLA2G6 | R6C | Infantile neuroaxonal dystrophy, Inborn genetic diseases, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration,
not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38522424
- GRCh38:
- Chr22:38126417
| PLA2G6 | R461W, R407W, R229W, R235W, R283W | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, not provided | Uncertain significance
(Jul 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38522377
- GRCh38:
- Chr22:38126370
| PLA2G6 | | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14,
Neurodegeneration with brain iron accumulation 2B, not provided, Infantile neuroaxonal dystrophy
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38519187
- GRCh38:
- Chr22:38123180
| PLA2G6 | K502N, K448N, K276N, K324N, K270N | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B | Conflicting interpretations of pathogenicity
(Feb 28, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38511592
- GRCh38:
- Chr22:38115585
| PLA2G6 | N659S, N427S, N433S, N481S, N605S | Neurodegeneration with brain iron accumulation 2B | Likely pathogenic
(Oct 7, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr22:38541454
- GRCh38:
- Chr22:38145447
| PLA2G6 | R139H | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, not provided
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38565343
- GRCh38:
- Chr22:38169336
| PLA2G6 | D31N | not provided, Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38565333
- GRCh38:
- Chr22:38169326
| PLA2G6 | S34L | not provided, Infantile neuroaxonal dystrophy, not specified,
PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14 | Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38539282
- GRCh38:
- Chr22:38143275
| PLA2G6 | A147T | not specified, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, not provided, PLA2G6-associated neurodegeneration,
Infantile neuroaxonal dystrophy | Uncertain significance
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38519162
- GRCh38:
- Chr22:38123155
| PLA2G6 | L511V, L333V, L457V, L285V, L279V | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B | Uncertain significance
(Sep 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38528838
- GRCh38:
- Chr22:38132831
| PLA2G6 | | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, not provided
| Pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508566
- GRCh38:
- Chr22:38112559
| PLA2G6 | R741W, R509W, R515W, R687W, R563W | Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation,
Infantile neuroaxonal dystrophy, not provided | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38529017
- GRCh38:
- Chr22:38133010
| PLA2G6 | A300T, A74T, A122T | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, not provided
| Conflicting interpretations of pathogenicity
(Nov 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38528967-38528968
- GRCh38:
- Chr22:38132960-38132961
| PLA2G6 | | not specified, Neurodegeneration with brain iron accumulation 2B | Conflicting interpretations of pathogenicity
(Aug 20, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38522458
- GRCh38:
- Chr22:38126451
| PLA2G6 | | not provided, Neurodegeneration with brain iron accumulation 2B | Pathogenic/Likely pathogenic
(Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38565366
- GRCh38:
- Chr22:38169359
| PLA2G6 | R23Q | Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
not provided, Infantile neuroaxonal dystrophy, Iron accumulation in brain
| Uncertain significance
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508554
- GRCh38:
- Chr22:38112547
| PLA2G6 | R745W, R691W, R519W, R567W, R513W | Iron accumulation in brain | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr22:38512162
- GRCh38:
- Chr22:38116155
| PLA2G6 | R600Q, R374Q, R546Q, R368Q, R422Q | PLA2G6-associated neurodegeneration, Inborn genetic diseases, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14, not provided,
Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy, Iron accumulation in brain
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516834
- GRCh38:
- Chr22:38120827
| PLA2G6 | L334fs, L382fs, L328fs, L506fs, L560fs | PLA2G6-associated neurodegeneration, Iron accumulation in brain, Autosomal recessive Parkinson disease 14,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516893
- GRCh38:
- Chr22:38120886
| PLA2G6 | G539S, G307S, G361S, G313S, G485S | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, not provided, Infantile neuroaxonal dystrophy,
Iron accumulation in brain | Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38516895
- GRCh38:
- Chr22:38120888
| PLA2G6 | R538H, R306H, R312H, R484H, R360H | PLA2G6-associated neurodegeneration, not provided, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy, Iron accumulation in brain | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38519251
- GRCh38:
- Chr22:38123244
| PLA2G6 | L481Q, L249Q, L427Q, L303Q, L255Q | PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation 2B, Iron accumulation in brain,
Infantile neuroaxonal dystrophy | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38565325
- GRCh38:
- Chr22:38169318
| PLA2G6 | R37* | PLA2G6-associated neurodegeneration, not provided, Neurodegeneration with brain iron accumulation 2B,
Infantile neuroaxonal dystrophy, Iron accumulation in brain | Pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38511664
- GRCh38:
- Chr22:38115657
| PLA2G6 | R635Q, R403Q, R581Q, R457Q, R409Q | PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, not provided, Infantile neuroaxonal dystrophy
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38508548
- GRCh38:
- Chr22:38112541
| PLA2G6 | R747W, R521W, R515W, R569W, R693W | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, not provided, Autosomal recessive Parkinson disease 14
| Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38508565
- GRCh38:
- Chr22:38112558
| PLA2G6 | R741Q, R515Q, R687Q, R509Q, R563Q | Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14,
not provided, Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14 | Pathogenic/Likely pathogenic
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38541632
- GRCh38:
- Chr22:38145625
| PLA2G6 | A80T | PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B,
Autosomal recessive Parkinson disease 14, not provided, Infantile neuroaxonal dystrophy
| Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:38508218-38508219
- GRCh38:
- Chr22:38112211-38112212
| PLA2G6 | | Inborn genetic diseases, PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, Autosomal recessive Parkinson disease 14, not provided,
Infantile neuroaxonal dystrophy, Iron accumulation in brain | Pathogenic/Likely pathogenic
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38509624-38509626
- GRCh38:
- Chr22:38113617-38113619
| PLA2G6 | V691del, V465del, V513del, V459del, V637del | not provided, Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy,
Iron accumulation in brain | Pathogenic
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:38516874
- GRCh38:
- Chr22:38120867
| PLA2G6 | K545T, K491T, K313T, K319T, K367T | Autosomal recessive Parkinson disease 14 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr22:38508219
- GRCh38:
- Chr22:38112212
| PLA2G6 | Y790*, Y558*, Y564*, Y612*, Y736* | Seizure, Autism, PLA2G6-associated neurodegeneration,
Inborn genetic diseases, Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy,
Neurodegeneration with brain iron accumulation 2B, not provided, Neurodegeneration with brain iron accumulation,
Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2BAbnormality of the nervous system,
Iron accumulation in brain, ...see more | Conflicting interpretations of pathogenicity
(Jan 24, 2023) | criteria provided, conflicting interpretations |