Early onset or syndromic epilepsy

Gene: POMT2

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Red List (low evidence)

Insufficient evidence for association with epilepsy or seizures, phenotype appears to be associated with muscular dystrophy.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) , 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), 613158

Publications

• 17878207

Comment on phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150

Created: 26 Sep 2018, 3:14 p.m.

Comment on publications: Seizures reported in one family (1436) among many other features.

Created: 4 Sep 2018, 1:43 p.m.

Green List (high evidence)

Seizures are part of the phenotype of dystroglycanopathies.

Created: 19 Aug 2018, 11:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150

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