A4GALT

alpha 1,4-galactosyltransferase (P1PK blood group)
OMIM: 607922, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green A4GALT in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • A4GALT-congenital disorder of glycosylation MONDO:0100587

Green A4GALT in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • A4GALT-congenital disorder of glycosylation MONDO:0100587

Green A4GALT in Red cell disorders


Level 2: Haematological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • A4GALT-congenital disorder of glycosylation MONDO:0100587