Early onset or syndromic epilepsy
Gene: POMGNT1
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 3A. Vervoot et al, 2004 - non-Finnish family - 2 sibs - 1 of which seemed more severe and developed epilepsy at 5 months - compound het variants. Biancheri et al, 2006 - Italian patient - had seizures - compound het for a splice and a nonsense variant. Mercuri et al, 2009 - 1 patient who had seizures along with other features - hom truncating nonsense variant.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, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation)type B, 3 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 3 613157 ; Retinitis pigmentosa 76 617123
Publications
Comment on list classification: > 3 cases with variants in this gene and seizures so rating green.Created: 5 Dec 2018, 11:54 a.m.
Associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 along with other types of Muscular dystrophy-dystroglycanopathy in OMIM and Gene2Phenotype.
Numerous variants and cases reported in OMIM.
PMID: 24282183 (Raducu et al 2014) report a case of a child with Muscle-eye-brain disease, 2 heterozygous mutations in the POMGNT1 gene and seizure at age 7.
PMID: 15236414 (Vervoort et al 2004) report a family with 2 siblings with Muscle‐eye‐brain disease. Both are compound hetrozygotes with two missense changes in POMGNT1. 1 child is reported to have epileptic seizures from 5 months.
PMID:17878207 (Godfrey et al 2007) report 7 patients with compound heterozygous or homozygous variants in POMGNT1 (subjects 18-24). 3 are reported to have seizures.Created: 5 Dec 2018, 11:53 a.m.
Seizures are part of the phenotype of dystroglycanopathies.Created: 19 Aug 2018, 11:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM#253280
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to POMGNT1.
Source NHS GMS was added to POMGNT1.
Zornitza Stark: Seizures are part of the pheno
Gene: pomgnt1 has been classified as Green List (High Evidence).
Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Mode of inheritance for gene: POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to
Gene: pomgnt1 has been classified as Green List (High Evidence).
Expert Review Amber was added to POMGNT1. Panel: Genetic Epilepsy Syndromes
POMGNT1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
POMGNT1 was created by Sarah Leigh