Early onset or syndromic epilepsy
Gene: PRMT7
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 short stature, brachydactyly, intellectual developmental disability and seizures (SBIDDS). Akawi et al, 2015 - 6 females from 3 unrelated families with skeletal abnormalities - 4 had mild seizures either partial or absence, compound het variants and segregated with disease in the families . Kernohan et al, 2017 - consang boy of Afghan parents - seizures present - hom 15,309bp encompassing the transcription start site (would we be able to dectect this) - functional studies undertaken. Agolini et al, 2018 - 3 additional patients from 2 consang families with phenotype as before. Family 1 hom nonsense - unaff parents and sib all het. Family 2 - hom missense variant - aff sibs hom, unaff parents - het. Molecular modelling suggests it will have an impact on normal protein folding.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
short stature brachydactyly intellectual developmental disability and seizures 617157
Publications
Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in 4 cases.Created: 10 Apr 2018, 12:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Publications
Source Wessex and West Midlands GLH was added to PRMT7.
Source NHS GMS was added to PRMT7.
Sarah Leigh: Gene originally listed on the
This gene has been classified as Green List (High Evidence).
PRMT7 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
PRMT7 was created by Sarah Leigh