Institute of Medical Genetics and Genomics (Sir Ganga Ram Hospital), Institute of Medical Genetics and Genomics
General information
Personnel
- Deepti Gupta, Variant scientist/curator
Phone: 8860548682
Email: deeptigupta_260885@yahoo.co.in - Renu Saxena, Lab Director
Phone: 091 1142252139
Email: renu2006@gmail.com
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- Gupta et al. (Genet Test Mol Biomarkers 2016)
- Submitter's publication
- Submitter's publication
- Submitter's publication
- Submitter's publication
- Submitter's publication
- Submitter's publication
- Submitter's publication
- Submitter's publication
- Vyas et al. (Am J Med Genet A. 2016)
Summary of submissions to ClinVar
Total submissions: 253
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA3 | 1 | Oct 23, 2023 |
| AGO2 | 1 | Jun 21, 2023 |
| AKR1D1 | 1 | Jun 21, 2023 |
| ALDH7A1 | 2 | Feb 15, 2022 |
| AVPR2 | 1 | Oct 20, 2023 |
| BCKDHA | 8 | Jul 15, 2015 |
| BCKDHB | 10 | Jul 15, 2015 |
| BTK | 6 | May 13, 2022 |
| CACNA1E | 1 | Oct 23, 2023 |
| CACNA1G | 1 | Jul 10, 2023 |
| CANT1 | 2 | Jan 30, 2022 |
| CEP290 | 1 | Oct 19, 2023 |
| CFTR | 3 | Nov 6, 2023 |
| CFTR-AS1 | 1 | Nov 6, 2023 |
| COL1A1 | 8 | Feb 10, 2022 |
| COL1A2 | 5 | Jul 10, 2023 |
| COL1A2-AS1 | 1 | Jul 10, 2023 |
| COL2A1 | 4 | Jul 3, 2022 |
| CPLANE1 | 1 | Jul 10, 2023 |
| CPS1 | 1 | Oct 19, 2023 |
| CREBBP | 1 | Jun 21, 2023 |
| CRLF1 | 1 | Jun 22, 2023 |
| CSNK2A1 | 1 | Jun 23, 2023 |
| CYP21A2 | 20 | Mar 11, 2023 |
| DBT | 2 | Jul 15, 2015 |
| DGUOK | 1 | Oct 19, 2023 |
| DPAGT1 | 4 | Jul 4, 2023 |
| DYRK1A | 1 | Jul 10, 2023 |
| DYSF | 1 | Jul 7, 2023 |
| ELANE | 1 | Oct 23, 2023 |
| EVC2 | 1 | Jan 30, 2022 |
| F11 | 1 | Jun 23, 2023 |
| FBN1 | 2 | Jul 10, 2023 |
| FBP1 | 7 | Jun 15, 2017 |
| FBXL4 | 1 | Feb 15, 2022 |
| FGF12 | 1 | Oct 19, 2023 |
| FGFR3 | 1 | Jan 30, 2022 |
| GAA | 23 | Sep 18, 2023 |
| GAREM2 | 1 | Oct 16, 2023 |
| GPR143 | 1 | Jun 24, 2023 |
| HADHA | 1 | Oct 16, 2023 |
| HECW2 | 1 | Jun 28, 2023 |
| HGD | 2 | Jun 24, 2023 |
| HMGCS2 | 1 | Feb 20, 2022 |
| IFT140 | 1 | Nov 16, 2021 |
| IFT43 | 1 | Jan 30, 2022 |
| IFT81 | 2 | Jan 30, 2022 |
| IMMT | 1 | Feb 24, 2022 |
| KCNH2 | 1 | Aug 4, 2015 |
| KCNJ1 | 2 | Oct 28, 2023 |
| KCNQ1 | 17 | Oct 16, 2015 |
| KCNQ1OT1 | 1 | Aug 4, 2015 |
| KCNQ2 | 1 | Oct 20, 2023 |
| KMT2D | 1 | Jun 23, 2023 |
| LDLR | 1 | Sep 21, 2017 |
| LHX3 | 1 | Feb 15, 2022 |
| LOC105371046 | 1 | Nov 16, 2021 |
| LOC106780800 | 20 | Mar 11, 2023 |
| LOC111674475 | 1 | Oct 28, 2023 |
| LOC126860544 | 1 | Jun 21, 2023 |
| LOC126861360 | 3 | Jul 4, 2023 |
| LOC129934096 | 1 | Oct 19, 2023 |
| LOC130002203 | 1 | May 2, 2022 |
| LSS | 2 | Jun 28, 2023 |
| MMAA | 2 | Apr 12, 2016 |
| MMAB | 3 | Apr 12, 2016 |
| MMACHC | 1 | Apr 12, 2016 |
| MMUT | 6 | Apr 12, 2016 |
| MOCS2 | 1 | Oct 23, 2023 |
| MVK | 1 | Apr 12, 2016 |
| MYH6 | 1 | Jun 24, 2023 |
| NANS | 1 | May 2, 2022 |
| NBEA | 1 | Jul 10, 2023 |
| NEB | 1 | Jun 28, 2023 |
| NEK1 | 1 | Jan 30, 2022 |
| NPC1 | 2 | Jun 21, 2023 |
| NR0B1 | 1 | Oct 13, 2020 |
| OTC | 1 | Oct 19, 2023 |
| PCCA | 22 | Sep 7, 2016 |
| PCCB | 6 | Nov 17, 2015 |
| PDHX | 2 | Oct 23, 2023 |
| PEX7 | 1 | Jan 30, 2022 |
| PIGB | 1 | Oct 23, 2023 |
| PIGBOS1 | 1 | Oct 23, 2023 |
| PNP | 1 | Jun 28, 2023 |
| POLG | 2 | Oct 17, 2022 |
| POLGARF | 2 | Oct 17, 2022 |
| PRF1 | 1 | Oct 23, 2023 |
| PROM1 | 2 | Jun 22, 2023 |
| PTPN11 | 1 | Oct 27, 2023 |
| RANBP2 | 1 | Jun 24, 2023 |
| SCN1A | 2 | Oct 23, 2023 |
| SCN2A | 1 | Oct 28, 2023 |
| SCN5A | 2 | Aug 4, 2015 |
| SH3TC2 | 1 | Jun 23, 2023 |
| SLC25A12 | 1 | Feb 15, 2022 |
| SLC26A2 | 5 | Nov 25, 2021 |
| SRD5A3 | 1 | Jun 24, 2023 |
| STXBP1 | 1 | Feb 15, 2022 |
| TMEM53 | 1 | Jul 10, 2023 |
| TMEM67 | 1 | Jun 23, 2023 |
| TRAPPC2L | 1 | Jun 28, 2023 |
| TRIM14 | 1 | May 2, 2022 |
| TRIP11 | 2 | Jan 30, 2022 |
| TRRAP | 1 | Jun 21, 2023 |
| TUBGCP6 | 2 | Jan 3, 2024 |
| UGP2 | 1 | Oct 19, 2023 |
| WDR19 | 2 | Jun 21, 2023 |
| WNT7A | 1 | Jan 30, 2022 |
| WWOX | 1 | Oct 19, 2023 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Aarskog syndrome | 1 test |
| Achondroplasia | 2 tests |
| Acrocephalosyndactyly type I | 1 test |
| Acute intermittent porphyria | 2 tests |
| Adrenoleukodystrophy | 2 tests |
| Alkaptonuria | 1 test |
| Alpha-1-antitrypsin deficiency | 1 test |
| Alzheimer disease 4 | 1 test |
| Androgen resistance syndrome | 1 test |
| Angelman syndrome | 1 test |
| Ataxia-telangiectasia syndrome | 1 test |
| Autosomal dominant Parkinson disease 8 | 1 test |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 test |
| Azorean disease | 1 test |
| Becker muscular dystrophy | 1 test |
| Beta thalassemia intermedia | 1 test |
| Beta-thalassemia major | 1 test |
| Biotinidase deficiency | 1 test |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 test |
| Citrullinemia type I | 1 test |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 tests |
| Congenital adrenal hypoplasia, X-linked | 1 test |
| Crigler-Najjar syndrome | 1 test |
| Cystic fibrosis | 1 test |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 test |
| Dentatorubral-pallidoluysian atrophy | 1 test |
| Diastrophic dysplasia | 1 test |
| Dilated cardiomyopathy 3B | 1 test |
| Duchenne muscular dystrophy | 1 test |
| Dystonia 5 | 1 test |
| Early-onset generalized limb-onset dystonia | 1 test |
| FRAXE | 1 test |
| Fragile X syndrome | 1 test |
| Friedreich ataxia 1 | 1 test |
| GM1 gangliosidosis | 1 test |
| Galactosylceramide beta-galactosidase deficiency | 1 test |
| Gaucher disease | 1 test |
| Gilbert syndrome | 1 test |
| Glaucoma 3, primary infantile, B | 1 test |
| Glutaric aciduria, type 1 | 1 test |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 test |
| Glycogen storage disease type III | 1 test |
| Glycogen storage disease, type V | 1 test |
| Griscelli syndrome type 2 | 1 test |
| Hb SS disease | 3 tests |
| Hemochromatosis type 1 | 1 test |
| Hemoglobinopathy | 1 test |
| Hereditary factor IX deficiency disease | 1 test |
| Hereditary factor VIII deficiency disease | 1 test |
| Huntington disease | 1 test |
| Hypohidrotic X-linked ectodermal dysplasia | 1 test |
| Incontinentia pigmenti syndrome | 1 test |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2 tests |
| L1 syndrome | 1 test |
| LAMA2-related muscular dystrophy | 1 test |
| Lamellar ichthyosis | 1 test |
| Lesch-Nyhan syndrome | 1 test |
| Lethal tight skin contracture syndrome | 1 test |
| Lowe syndrome | 1 test |
| MERRF syndrome | 2 tests |
| MERRF/MELAS overlap syndrome | 1 test |
| MTHFR THERMOLABILE POLYMORPHISM | 1 test |
| Maple syrup urine disease | 1 test |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 test |
| Metachromatic leukodystrophy | 1 test |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 test |
| Methylmalonic aciduria, cblA type | 1 test |
| Methylmalonic aciduria, cblB type | 1 test |
| Mitochondrial DNA Deletion Syndromes | 1 test |
| Mitochondrial DNA-Associated Leigh Syndrome and NARP | 1 test |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 test |
| Mucopolysaccharidosis, MPS-II | 1 test |
| Muenke syndrome | 1 test |
| Neurofibromatosis, type 1 | 1 test |
| Neuronal ceroid lipofuscinosis 1 | 1 test |
| Neuronal ceroid lipofuscinosis 2 | 1 test |
| Neuronal ceroid lipofuscinosis 3 | 1 test |
| Obesity due to congenital leptin deficiency | 1 test |
| Oculocutaneous albinism type 3 | 1 test |
| Pigmentary pallidal degeneration | 1 test |
| Prader-Willi syndrome | 1 test |
| Primary hyperoxaluria, type I | 1 test |
| Propionic acidemia | 1 test |
| Qualitative or quantitative defects of dystrophin | 1 test |
| Respiratory distress syndrome in premature infants | 1 test |
| Retinoblastoma | 1 test |
| Rett syndrome | 1 test |
| Saethre-Chotzen syndrome | 1 test |
| Sickle cell-Hemoglobin O Arab disease | 1 test |
| Sickle cell-beta-thalassemia | 2 tests |
| Sickle cell-hemoglobin C disease | 1 test |
| Sickle cell-hemoglobin D disease | 2 tests |
| Silver-Russell syndrome due to an imprinting defect of 11p15 | 1 test |
| Spinal muscular atrophy | 1 test |
| Spinocerebellar ataxia 7 | 1 test |
| Spinocerebellar ataxia type 1 | 1 test |
| Spinocerebellar ataxia type 12 | 1 test |
| Spinocerebellar ataxia type 2 | 1 test |
| Spinocerebellar ataxia type 6 | 1 test |
| Spondyloarthropathy, susceptibility to | 1 test |
| Spondyloepiphyseal dysplasia tarda | 1 test |
| Spongy degeneration of central nervous system | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Tay-Sachs disease | 1 test |
| Thalassemia intermedia | 1 test |
| Thalassemia minor | 1 test |
| Thrombophilia due to activated protein C resistance | 1 test |
| Thrombophilia due to thrombin defect | 1 test |
| Tuberous sclerosis 1 | 1 test |
| Tuberous sclerosis 2 | 1 test |
| Tyrosinase-positive oculocutaneous albinism | 2 tests |
| Tyrosinemia type I | 2 tests |
| Waardenburg syndrome type 1 | 1 test |
| Waardenburg syndrome type 4B | 1 test |
| Wilson disease | 1 test |
| Wiskott-Aldrich syndrome | 1 test |
| X-linked agammaglobulinemia | 1 test |
| X-linked ichthyosis with steryl-sulfatase deficiency | 2 tests |
| Y chromosome-related disorders | 1 test |
| alpha Thalassemia | 1 test |
| beta Thalassemia | 1 test |