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  2. Likely inborn error of metabolism
  3. B4GALT1
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Likely inborn error of metabolism

Gene: B4GALT1

Green List (high evidence)
B4GALT1 (beta-1,4-galactosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000086062
EnsemblGeneIds (GRCh37): ENSG00000086062
OMIM: 137060, Gene2Phenotype
B4GALT1 is in 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IId, OMIM:607091
OMIM
137060
Clinvar variants
Variants in B4GALT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: B4GALT1 were changed from Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 to Congenital disorder of glycosylation, type IId, OMIM:607091

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to B4GALT1. Source London North GLH was added to B4GALT1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 for gene: B4GALT1 Publications for gene B4GALT1 were changed from 27604308 to 11901181; 21920538

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: B4GALT1 was added gene: B4GALT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT1 were set to 27604308 Phenotypes for gene: B4GALT1 were set to Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091