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Intellectual disability syndromic and non-syndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both mono-allelic and bi-allelic variants associated with ID, evidence for both LoF and GoF for the mono-allelic variants.
Sources: Expert list
Created: 29 Jan 2020, 9:12 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 3 618012
  • Cutis laxa, autosomal recessive, type IID 617403
OMIM
607027
Clinvar variants
Variants in ATP6V1A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

29 Jan 2020, 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).

29 Jan 2020, 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).

29 Jan 2020, 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).

29 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP6V1A was added gene: ATP6V1A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP6V1A were set to 29668857; 28065471 Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403 Mode of pathogenicity for gene: ATP6V1A was set to Other Review for gene: ATP6V1A was set to GREEN gene: ATP6V1A was marked as current diagnostic