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  2. Muscular dystrophy and myopathy_Paediatric
  3. ATP6V1A
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Muscular dystrophy and myopathy_Paediatric

Gene: ATP6V1A

Green List (high evidence)
ATP6V1A (ATPase H+ transporting V1 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000114573
EnsemblGeneIds (GRCh37): ENSG00000114573
OMIM: 607027, Gene2Phenotype
ATP6V1A is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: CK markedly raised in some.
Created: 21 Jun 2021, 3:41 a.m. | Last Modified: 21 Jun 2021, 3:41 a.m.
Panel Version: 0.91
Created: 21 Jun 2021, 3:41 a.m.
Last Modified: 21 Jun 2021, 3:41 a.m.
Panel version: 0.91

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

3 families were reported with elevated CK levels in patients with cutis laxa AR phenotype
Sources: Literature
Created: 21 Jun 2021, 1:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012

Publications

Created: 21 Jun 2021, 1:45 a.m.

Panel version: 0.89

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IID MIM#617403
OMIM
607027
Clinvar variants
Variants in ATP6V1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6v1a has been classified as Green List (High Evidence).

21 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012 to Cutis laxa, autosomal recessive, type IID MIM#617403

21 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6v1a has been classified as Green List (High Evidence).

21 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: ATP6V1A was added gene: ATP6V1A was added to Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to PMID: 28065471; 33320377 Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012 Review for gene: ATP6V1A was set to GREEN