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  2. Congenital muscular dystrophy and congenital myopathy
  3. B3GALNT2
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Congenital muscular dystrophy and congenital myopathy

Gene: B3GALNT2

Green List (high evidence)
B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000162885
EnsemblGeneIds (GRCh37): ENSG00000162885
OMIM: 610194, Gene2Phenotype
B3GALNT2 is in 16 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.
Created: 29 Apr 2019, 3:37 p.m.

Copied from panel: Congenital muscular dystrophy v3.26

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11; congenital muscular dystrophies

Publications

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

Created: 29 Apr 2019, 3:27 p.m.

Copied from panel: Congenital muscular dystrophy v3.26

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review and additional curation.
Created: 19 Dec 2016, 1:06 p.m.
Created: 19 Dec 2016, 1:06 p.m.

Copied from panel: Congenital muscular dystrophy v3.26

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

stevens paper- 6 affetcted individuals, dystrogylycanoapthy pheenoptype. Muscle and structurl brain involvement.
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11; congenital muscular dystrophies

Created: 19 Dec 2016, 11:47 a.m.

Copied from panel: Congenital muscular dystrophy v3.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
OMIM
610194
Clinvar variants
Variants in B3GALNT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: B3GALNT2 was added gene: B3GALNT2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Green,London South GLH Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to 23453667 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181 Penetrance for gene: B3GALNT2 were set to Complete