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Arthrogryposis

Gene: B4GAT1

Green List (high evidence)

B4GAT1 (beta-1,4-glucuronyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000174684
EnsemblGeneIds (GRCh37): ENSG00000174684
OMIM: 605517, Gene2Phenotype
B4GAT1 is in 10 panels

3 reviews

Alice Gardham (Genomics England)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review.
Created: 19 Dec 2016, 3:41 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

only 2 reported families but good functional data.
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
OMIM
605517
Clinvar variants
Variants in B4GAT1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

9 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

B4GAT1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,,Expert Review Green

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

B4GAT1 was created by ellenmcdonagh