Early onset or syndromic epilepsy
Gene: POMT2
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
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
Comment on phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150Created: 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.
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
Source Wessex and West Midlands GLH was added to POMT2.
Source NHS GMS was added to POMT2.
Zornitza Stark: Seizures are part of the pheno
Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Mode of inheritance for gene: POMT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 22700954
Expert Review Amber was added to POMT2. Panel: Genetic Epilepsy Syndromes
POMT2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
POMT2 was created by Sarah Leigh