Congenital muscular dystrophy
Gene: B3GALNT2
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.
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
Comment on list classification: Promoted to green due to expert review and additional curation.Created: 19 Dec 2016, 1:06 p.m.
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
Source was removed from B3GALNT2.
Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11; congenital muscular dystrophies to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
Source NHS GMS was added to B3GALNT2.
Source London South GLH was added to B3GALNT2. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for B3GALNT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for B3GALNT2 were set to 23453667
This gene has been classified as Green List (High Evidence).
B3GALNT2 was added to Congenital muscular dystrophypanel. Source:
B3GALNT2 was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
B3GALNT2 was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory