Congenital disorders of glycosylation
Gene: A4GALTEnsemblGeneIds (GRCh38): ENSG00000128274
EnsemblGeneIds (GRCh37): ENSG00000128274
OMIM: 607922, Gene2Phenotype
A4GALT is in 1 panel
1 review
Ida Ertmanska (Genomics England Curator)
LoF variants in this gene lead to a rare 'P-Null' blood type (absence of P and Pk blood group antigens). The phenotype is usually spontaneous abortions and significant haemolytic complications upon transfusion of incompatible blood (PMID: 27612185 Li et al., 2017). While the mechanism is indeed a Congenital disorders of glycosylation (impaired Gb3/CD77 synthase activity), testing for a rare blood group antigen does not fit into the scope of the panel.Created: 15 Oct 2025, 1:40 p.m. | Last Modified: 15 Oct 2025, 1:43 p.m.
Panel Version: 7.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
[Blood group, P1Pk system, p phenotype], OMIM:111400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- ClinGen
- Phenotypes
-
- [Blood group, P1Pk system, p phenotype], OMIM:111400
- Tags
- OMIM
- 607922
- Clinvar variants
- Variants in A4GALT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: a4galt has been removed from the panel.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag curated_removed tag was added to gene: A4GALT.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: A4GALT were changed from congenital disorder of glycosylation, MONDO:0015286 to [Blood group, P1Pk system, p phenotype], OMIM:111400
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: A4GALT were set to 12823750,15142124; 10747952; 10993874; 11896312; 27612185
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ida Ertmanska (Genomics England Curator)gene: A4GALT was added gene: A4GALT was added to Congenital disorders of glycosylation. Sources: ClinGen Mode of inheritance for gene: A4GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: A4GALT were set to 12823750,15142124; 10747952; 10993874; 11896312; 27612185 Phenotypes for gene: A4GALT were set to congenital disorder of glycosylation, MONDO:0015286 Review for gene: A4GALT was set to GREEN