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Mendeliome

Gene: A4GALT

Red List (low evidence)

A4GALT (alpha 1,4-galactosyltransferase (P blood group))
EnsemblGeneIds (GRCh38): ENSG00000128274
EnsemblGeneIds (GRCh37): ENSG00000128274
OMIM: 607922, Gene2Phenotype
A4GALT is in 1 panel

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen Congenital Disorders of Glycosylation GCEP on 30/05/2025 - https://search.clinicalgenome.org/CCID:008831

A4GALT-congenital disorder of glycosylation presents as blood group phenotype p null. Affected individuals may present with no phenotype beyond abnormal agglutination in blood group serological testing, or recurrent spontaneous abortions or congenital haemolytic anaemia.
Biallelic LoF variants have been reported in >5 unrelated probands in the literature.
Created: 11 Jun 2025, 2:51 a.m. | Last Modified: 11 Jun 2025, 2:51 a.m.
Panel Version: 1.2653

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
A4GALT-congenital disorder of glycosylation MONDO:0100587

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

P(k) antigen of the P1PK blood group system, not a Mendelian disorder.
Created: 29 Aug 2020, 4:28 a.m. | Last Modified: 29 Aug 2020, 4:28 a.m.
Panel Version: 0.3991

Phenotypes
[Blood group, P1Pk system, p phenotype], MIM# 111400

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • [Blood group, P1Pk system, p phenotype], MIM# 111400
OMIM
607922
Clinvar variants
Variants in A4GALT
Penetrance
None
Panels with this gene

History Filter Activity

29 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: a4galt has been classified as Red List (Low Evidence).

29 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: A4GALT were changed from to [Blood group, P1Pk system, p phenotype], MIM# 111400

29 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: a4galt has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: A4GALT was added gene: A4GALT was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: A4GALT was set to Unknown