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Intellectual disability

Gene: B4GALT1

Red List (low evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Candidate gene (PMID 24896178 & 26503795). Not associated with intellecutal disability in OMIM or G2P. One variant reported in two unrelated cases. Mental retardation noted in one of these cases at 18mnths old (PMID 11901181), however, this had resolved by the time the child was 11 years old (PMID 21920538)
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IId 607091
OMIM
137060
Clinvar variants
Variants in B4GALT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to B4GALT1.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene B4GALT1 was set to ['26503795', ' 24896178', ' 11901181', ' 21920538']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B4GALT1 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B4GALT1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen