Early onset or syndromic epilepsy
Gene: POMT1
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
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
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.
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
Source Wessex and West Midlands GLH was added to POMT1.
Source NHS GMS was added to POMT1.
Zornitza Stark: Seizures are part of the pheno
Gene: pomt1 has been classified as Green List (High Evidence).
Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Publications for gene: POMT1 were set to
Mode of inheritance for gene: POMT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: pomt1 has been classified as Green List (High Evidence).
Expert Review Amber was added to POMT1. Panel: Genetic Epilepsy Syndromes
POMT1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
POMT1 was created by Sarah Leigh