Aortopathy_Connective Tissue Disorders
Gene: ATP6V1A
Note the two consanguineous families had the same homozygous missense variant ?founder.Created: 8 Jul 2020, 7:19 a.m. | Last Modified: 8 Jul 2020, 7:19 a.m.
Panel Version: 0.149
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IID, MIM# 617403
Publications
PMID: 28065471;
- 3 families (including 2 consanguineous) with homozygous missense
- in vitro assays using patients' fibroblasts demonstrated the variants disrupted V-ATPase complex assembly and stability
Sources: LiteratureCreated: 7 Jul 2020, 11:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IID (MIM# 617403)
Publications
Gene: atp6v1a has been classified as Green List (High Evidence).
Gene: atp6v1a has been classified as Green List (High Evidence).
Gene: atp6v1a has been classified as Green List (High Evidence).
Gene: atp6v1a has been classified as Amber List (Moderate Evidence).
Gene: atp6v1a has been classified as Green List (High Evidence).
Gene: atp6v1a has been classified as Green List (High Evidence).
gene: ATP6V1A was added gene: ATP6V1A was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to PMID: 28065471 Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID (MIM# 617403) Penetrance for gene: ATP6V1A were set to unknown Review for gene: ATP6V1A was set to GREEN