Aortopathy_Connective Tissue Disorders
Gene: ATP6V1E1EnsemblGeneIds (GRCh38): ENSG00000131100
EnsemblGeneIds (GRCh37): ENSG00000131100
OMIM: 108746, Gene2Phenotype
ATP6V1E1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
3 unrelated consanguineous families from Iran, Kuwait, and Saudi Arabia, homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa, each segregating in an affected sibling. Molecular analyses of patient tissues was supportive: complexome profiling in cultured fibroblasts showed a markedly reduced abundance of the assembled V1 domain and of the complete membrane-bound V1V0 complex.
Sources: Expert listCreated: 13 Jul 2020, 6:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIC MIM#617402
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIC MIM#617402
- OMIM
- 108746
- Clinvar variants
- Variants in ATP6V1E1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6v1e1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp6v1e1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP6V1E1 was added gene: ATP6V1E1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1E1 were set to 28065471; 27023906 Phenotypes for gene: ATP6V1E1 were set to Cutis laxa, autosomal recessive, type IIC MIM#617402 Review for gene: ATP6V1E1 was set to GREEN