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Pediatrics Genetics (Post Graduate Institute of Medical Education and Research), PGIMER

General information

Pediatrics Genetics, PGIMER
Post Graduate Institute of Medical Education and Research
Sector-12
Chandigarh
Chandigarh
India - 160012
http://pgimer.edu.in/PGIMER_PORTAL/PGIMERPORTAL/home.jsp
Organization ID: 507431

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 47

Gene

GeneSubmissionsLast Updated
ABCD11Apr 30, 2020
ABHD51Sep 8, 2020
ADAMTSL22Jun 11, 2021
ALAD1Mar 1, 2023
ANTXR21Feb 25, 2020
ASPM1Mar 1, 2023
ATP6V0A43Jul 11, 2024
CEP631Mar 1, 2023
CHST141Mar 5, 2020
CPLANE11Mar 8, 2023
CSPP11Jul 22, 2021
CYP1B11Aug 31, 2023
DOCK71Mar 1, 2023
EPM2A1Mar 1, 2023
EPM2A-DT1Mar 1, 2023
F51Mar 1, 2023
GAS81Mar 2, 2023
GUCY2D1Aug 10, 2020
HSD11B21Aug 23, 2024
HSPG21May 17, 2021
HYDIN1Mar 7, 2023
IFT1401Apr 1, 2021
INPPL11Mar 1, 2023
KATNIP1Mar 1, 2023
KCNA21Feb 27, 2023
KIF111Jun 25, 2021
LMBRD11Mar 1, 2023
LOC1053710461Apr 1, 2021
LOC1299973811Mar 1, 2023
MKS11Mar 1, 2023
MYEF21Mar 1, 2023
NEB1Mar 1, 2023
NF15Jul 21, 2023
NPR21Jun 18, 2020
OCRL1May 19, 2021
PCNT1Mar 1, 2023
PKD1L11Mar 2, 2023
PTPRQ1Mar 1, 2023
SCN8A2Sep 25, 2023
SLC24A51Mar 1, 2023
SLC6A191Mar 1, 2023
STXBP11Aug 25, 2023
VPS13A1Mar 1, 2023

Condition

NameSubmissionsLast Updated
Acromesomelic dysplasia 1, Maroteaux type1Jun 18, 2020
Adrenoleukodystrophy1Apr 30, 2020
Anterior segment dysgenesis 61Aug 31, 2023
Apparent mineralocorticoid excess1Aug 23, 2024
Arthrogryposis multiplex congenita 61Mar 1, 2023
Autosomal recessive nonsyndromic hearing loss 84A1Mar 1, 2023
Bardet-Biedl syndrome 131Mar 1, 2023
Chorea-acanthocytosis1Mar 1, 2023
Developmental and epileptic encephalopathy, 132Sep 25, 2023
Developmental and epileptic encephalopathy, 321Feb 27, 2023
Developmental and epileptic encephalopathy, 41Aug 25, 2023
Ehlers-Danlos syndrome, musculocontractural type1Mar 5, 2020
Fetal akinesia deformation sequence 31Mar 1, 2023
Geleophysic dysplasia 12Jun 11, 2021
Heterotaxy, visceral, 8, autosomal1Mar 2, 2023
Hyaline fibromatosis syndrome1Feb 25, 2020
Joubert syndrome 171Mar 8, 2023
Joubert syndrome 211Jul 22, 2021
Joubert syndrome 261Mar 1, 2023
Lafora disease1Mar 1, 2023
Leber congenital amaurosis 11Aug 10, 2020
Lowe syndrome1May 19, 2021
Methylmalonic aciduria and homocystinuria type cblF1Mar 1, 2023
Microcephalic osteodysplastic primordial dwarfism type II1Mar 1, 2023
Microcephaly 5, primary, autosomal recessive1Mar 1, 2023
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Jun 25, 2021
Neurofibromatosis, type 15Jul 21, 2023
Neutral 1 amino acid transport defect1Mar 1, 2023
Oculocutaneous albinism type 61Mar 1, 2023
Opsismodysplasia1Mar 1, 2023
Porphobilinogen synthase deficiency1Mar 1, 2023
Primary ciliary dyskinesia 331Mar 2, 2023
Primary ciliary dyskinesia 51Mar 7, 2023
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss3Jul 11, 2024
Saldino-Mainzer syndrome1Apr 1, 2021
Schwartz-Jampel syndrome1May 17, 2021
Seckel syndrome 61Mar 1, 2023
Thrombophilia due to activated protein C resistance1Mar 1, 2023
Triglyceride storage disease with ichthyosis1Sep 8, 2020