Liver Failure_Paediatric
Gene: ATP6AP1EnsemblGeneIds (GRCh38): ENSG00000071553
EnsemblGeneIds (GRCh37): ENSG00000071553
OMIM: 300197, Gene2Phenotype
ATP6AP1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Liver failure reported.
Sources: Expert listCreated: 1 Nov 2020, 9:03 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 47, MIM# 300972
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Immunodeficiency 47, MIM# 300972
- OMIM
- 300197
- Clinvar variants
- Variants in ATP6AP1
- 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: atp6ap1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6ap1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP6AP1 was added gene: ATP6AP1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034; 32216104; 32058063; 29192153 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM# 300972 Review for gene: ATP6AP1 was set to GREEN