Early onset or syndromic epilepsy

Gene: POMT1

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: John Taylor and Helen Lord. Suggested gene rating: Green.

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

Panel Version: 1.189

Green List (high evidence)

AR macular dystrophy-dystroglycanopathy type 1A, B and C. Type A - Mercuri et al, 2009 - 2 Italian patients - one also had myopia and seizures mutations detected in both. In the paper - table 1 charecterstics of 43 individuals from 41 families - cases 12, 13 & 14 had epilepsy and variants in POMT1 (all unrelated). Patients 12 and 13 had prev been reported recently (Messina et al, 2008) - patient 14 had not.

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), 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), 60930

Publications

• 19299310

Comment on list classification: >3 cases of variants in this gene in patients with a relevant phenotype. 3 patients reported with seizures.

Created: 5 Dec 2018, 1:08 p.m.

Associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 in OMIM and Gene2Phenotype. This condition is also known as WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED among other names.

Numerous variants reported in POMT1 in patients with this disorder.

PMID: 19299310 (Mercuri et al 2009) report 3 patients from Italy with variants in POMT1 and WWS or MEB presenting with epilepsy (cases 12, 13 and 14).

Created: 5 Dec 2018, 1:07 p.m.

Green List (high evidence)

Seizures are part of the phenotype of dystroglycanopathies.

Created: 19 Aug 2018, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM#236670

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