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  2. Congenital Disorders of Glycosylation
  3. B4GALT1
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Congenital Disorders of Glycosylation

Gene: B4GALT1

Green List (high evidence)
B4GALT1 (beta-1,4-galactosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000086062
EnsemblGeneIds (GRCh37): ENSG00000086062
OMIM: 137060, Gene2Phenotype
B4GALT1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iid, MIM#607091

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Nov 2019, 9:47 p.m.
Last Modified: 23 Nov 2019, 9:47 p.m.
Panel version: 0.0

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
OMIM
137060
Clinvar variants
Variants in B4GALT1
Penetrance
None
Panels with this gene

History Filter Activity

23 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b4galt1 has been classified as Green List (High Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: B4GALT1 was added gene: B4GALT1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B4GALT1 was set to Unknown