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Genetic Epilepsy

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 13 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe congenital muscular dystrophy and ID phenotype. Seizures not consistent feature with early phenotypic reports
PMID: 29791932 epileptic encephalopathy
PMID: 29273094 5 individuals with ID and seizures from single large consanguineous family but they had no or mild muscle symptoms so quite different from previously reported phenotype
PMID: 35127920 not a great article but does have a table summarising the previous cases and 9/21 had seizures.
Sources: Expert list
Created: 14 Dec 2023, 12:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181
OMIM
610194
Clinvar variants
Variants in B3GALNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3galnt2 has been classified as Green List (High Evidence).

15 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3galnt2 has been classified as Green List (High Evidence).

14 Dec 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: B3GALNT2 was added gene: B3GALNT2 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to PMID: 29791932, PMID: 29273094, PMID: 35127920 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181 Review for gene: B3GALNT2 was set to GREEN