PanelApp (test)
  1. Genes and Genomic Entities
  2. B4GALT1

B4GALT1

beta-1,4-galactosyltransferase 1
OMIM: 137060, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green B4GALT1 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green B4GALT1 in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Iid, MIM#607091

    Green B4GALT1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Congenital disorder of glycosylation, type Iid, MIM#607091

    Red B4GALT1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • CDG syndrome type IId

    Red B4GALT1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • CDG syndrome type IId