ATP6V1C1

ATPase H+ transporting V1 subunit C1
OMIM: 603097, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ATP6V1C1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related

Red ATP6V1C1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related