ATP6V1E1

ATPase H+ transporting V1 subunit E1
OMIM: 108746, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ATP6V1E1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cutis laxa, autosomal recessive, type IIC MIM#617402

Green ATP6V1E1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cutis laxa, autosomal recessive, type IIC MIM#617402

Green ATP6V1E1 in Cutis Laxa


Level 2: Dermatological disorders
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cutis laxa, autosomal recessive, type IIC MIM#617402