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  2. Congenital Disorders of Glycosylation
  3. ATP6AP1
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Congenital Disorders of Glycosylation

Gene: ATP6AP1

Green List (high evidence)
ATP6AP1 (ATPase H+ transporting accessory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000071553
EnsemblGeneIds (GRCh37): ENSG00000071553
OMIM: 300197, Gene2Phenotype
ATP6AP1 is in 8 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27231034
- 11 males from 6 families with defective glycosylation
Sources: Literature
Created: 15 Jul 2020, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
immunodeficiency-47 (MIM# 300972)

Publications

Created: 15 Jul 2020, 2:52 a.m.

Panel version: 0.57

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • immunodeficiency-47 (MIM# 300972)
OMIM
300197
Clinvar variants
Variants in ATP6AP1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6ap1 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6ap1 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: ATP6AP1 was added gene: ATP6AP1 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: ATP6AP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6AP1 were set to PMID: 27231034 Phenotypes for gene: ATP6AP1 were set to immunodeficiency-47 (MIM# 300972) Penetrance for gene: ATP6AP1 were set to unknown Review for gene: ATP6AP1 was set to GREEN