Congenital Disorders of Glycosylation
Gene: ATP6AP2EnsemblGeneIds (GRCh38): ENSG00000182220
EnsemblGeneIds (GRCh37): ENSG00000182220
OMIM: 300556, Gene2Phenotype
ATP6AP2 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some individuals may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern.
Two unrelated families and functional data support gene-disease association. Note gene has also been associated with two other OMIM phenotypes, 300423 and 300911, comprising ID, parkinsonism and spasticity. Unclear whether all of these represent a spectrum of CDG.
Sources: Expert listCreated: 2 Nov 2020, 8:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIr, MIM# 301045
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Congenital disorder of glycosylation, type IIr, MIM# 301045
- OMIM
- 300556
- Clinvar variants
- Variants in ATP6AP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: ATP6AP2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6ap2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6ap2 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: ATP6AP2 was added gene: ATP6AP2 was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: ATP6AP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6AP2 were set to 29127204; 29388887 Phenotypes for gene: ATP6AP2 were set to Congenital disorder of glycosylation, type IIr, MIM# 301045 Review for gene: ATP6AP2 was set to GREEN