| - GRCh37:
- Chr21:14420615-48080926
| CBR1, CBR3, CBS, GART, GATD3, KCNE2, KCNJ15, KCNJ6, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, NDUFV3, S100B, SAMSN1, SCAF4, ZBTB21, SETD4, SH3BGR, SIK1, SIM2, PCNT, PFKL, OLIG1, OLIG2, PAXBP1, PCBP3, PCP4, PDE9A, PDXK, SLC19A1, SLC37A1, SLC5A3, SLX9, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP7-1, KRTAP8-1, LCA5L, TFF2, TFF3, TIAM1, SMIM11, SOD1, NRIP1, PIGP, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-4, KRTAP10-12, KRTAP10-2, KRTAP10-9, KRTAP11-1, KRTAP10-3, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, GET1, CLDN8, CLIC6, COL18A1, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CCT8, CFAP298, CFAP410, CHAF1B, CHODL, CLDN14, CLDN17, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, BACE2, BACH1, BRWD1, BTG3, C21orf58, C21orf62, C21orf91, C2CD2, CYYR1, DIP2A, DNAJC28, DNMT3L, DONSON, DOP1B, DSCAM, DSCR4, DSCR8, DYRK1A, ERG, ETS2, EVA1C, FAM3B, FTCD, GABPA, GRIK1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, ITGB2, ITSN1, JAM2, KCNE1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, LINC00114, LINC00163, LINC00315, LINC00334, LIPI, LRRC3, LSS, LTN1, MAP3K7CL, MCM3AP, MIR125B2, MIR155, MIR99A, MIRLET7C, MIS18A, MORC3, MRAP, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RRP1, RRP1B, RSPH1, RUNX1, RWDD2B, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, TTC3, U2AF1, UBASH3A, UBE2G2, UMODL1, URB1, USP16, USP25, VPS26C, WDR4, YBEY | | Complete trisomy 21 syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:178952006
- GRCh38:
- Chr3:179234218
| PIK3CA | Y1021H | Complete trisomy 21 syndrome | Pathogenic
(Sep 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:48650721
- GRCh38:
- ChrX:48792314
| GATA1 | | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia,
Complete trisomy 21 syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Beta-thalassemia-X-linked thrombocytopenia syndrome
| Benign/Likely benign
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:48652222
- GRCh38:
- ChrX:48793815
| GATA1 | R298Q | Beta-thalassemia-X-linked thrombocytopenia syndrome, Complete trisomy 21 syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia,
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
| Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:48650258-48650259
- GRCh38:
- ChrX:48791851-48791852
| GATA1 | Y78fs | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Complete trisomy 21 syndrome
| Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1107478
- GRCh38:
- Chr4:1113690
| LOC105374344, RNF212 | | Complete trisomy 21 syndrome | risk factor
(Sep 10, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:48649551
- GRCh38:
- ChrX:48791144
| GATA1 | S12* | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Beta-thalassemia-X-linked thrombocytopenia syndrome,
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, Complete trisomy 21 syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
| Pathogenic/Likely pathogenic
(Jul 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:48652273
- GRCh38:
- ChrX:48793866
| GATA1 | K315R | X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, Complete trisomy 21 syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia,
Beta-thalassemia-X-linked thrombocytopenia syndrome, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
| Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33137252
- GRCh38:
- Chr6:33169475
| COL11A2 | R1150C, R1129C, R1236C | Complete trisomy 21 syndrome, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive,
Fibrochondrogenesis 2, not provided | Conflicting interpretations of pathogenicity
(Sep 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:73717326
- GRCh38:
- Chr2:73490199
| ALMS1 | V2748G, V2747G | Cardiovascular phenotype, not provided, Complete trisomy 21 syndrome,
Alstrom syndrome | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:48649610
- GRCh38:
- ChrX:48791203
| GATA1 | V32I | Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia,
Beta-thalassemia-X-linked thrombocytopenia syndrome, Complete trisomy 21 syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia,
not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:48649690
- GRCh38:
- ChrX:48791283
| GATA1 | | Complete trisomy 21 syndrome, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia,
Beta-thalassemia-X-linked thrombocytopenia syndrome, Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis,
not specified | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |