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Intellectual disability

Gene: B4GALT1

Amber List (moderate evidence)

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

5 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Upgraded from Red to Amber as now there are 2 families (4 total) exhibiting severe cognitive impairment, albeit this resolved in the singleton by age 11 (remaining patients were age 2.5, 11 and 11 years at the time of reporting)
Created: 19 Apr 2021, 5:09 p.m. | Last Modified: 19 Apr 2021, 5:09 p.m.
Panel Version: 3.1022
To date, B4GALT1-CDG has been reported in a total of 6 individuals (4 families) with three different homozygous variants, c.1031dupC, p.R345fs (PMIDs: 11901181, 21920538); c.579C>G, p.Y193X (PMID: 30653653); c.61C>T, p.Arg21Trp (PMID: 32157688). Mental retardation was noted in one individual at 18 months, but had resolved by age 11 (PMIDs: 11901181, 21920538). Three affected individuals from a large consanguineous Israeli family all had moderate or moderate-severe intellectual disability (PMID: 32157688). The remaining 2 individuals had normal psychomotor development (PMIDs: 21920538, 30653653).
Created: 19 Apr 2021, 4:56 p.m. | Last Modified: 19 Apr 2021, 4:56 p.m.
Panel Version: 3.1021

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IId, OMIM:607091

Publications

Zornitza Stark (Australian Genomics)

I don't know

Intellectual disability is part of CDG, although non-neurological forms of this CDG have been described.
Created: 10 Apr 2021, 9:04 a.m. | Last Modified: 10 Apr 2021, 9:04 a.m.
Panel Version: 3.1003

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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 Amber
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IId, OMIM:607091
OMIM
137060
Clinvar variants
Variants in B4GALT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: B4GALT1 were set to 26503795; 24896178; 11901181; 21920538; 30653653

19 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: b4galt1 has been classified as Amber List (Moderate Evidence).

19 Apr 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: B4GALT1 were set to 26503795; 24896178; 11901181; 21920538

19 Apr 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: B4GALT1 were changed from Congenital disorder of glycosylation, type IId 607091 to Congenital disorder of glycosylation, type IId, OMIM:607091

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