Early onset or syndromic epilepsy
Gene: PIGN
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 multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Mayden et al, 2011 - 7 patients from a large consang Arab Israeli kindred - 6 had seizures - hom missense variant. Ohba et al, 2014 - 2 Japanese sibs - both had seizures - compound het mutations - expression studies support pathogenicity. Khayet et al, 2016 - proband to consang Arab-Israeli parents - seizures. FH was significant with 2 spontaneous abortions and a brother who died at 12 days of a congenital diaphragmatic hernia - hom missense variant exprtession studies support pathogenicity. Fleming et al, 2016 - 4 patients from 3 unrelated families -all had seizures. The 2 sibs were compund het for a nonsense and a missense variant, another patient with a milder phenotype hwas compund het for two missense variants, and the last patient who was severely affected was a compund het for a fs and an intragenic deletion.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
Multiple congenital anomalies-hypotonia-seizures syndrome, 614080
Publications
Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 11 variants reported.Created: 10 Apr 2018, 12:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
Publications
Source Wessex and West Midlands GLH was added to PIGN.
Source NHS GMS was added to PIGN.
Sarah Leigh: Gene originally listed on the
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to PIGN. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to PIGN. Panel: Genetic Epilepsy Syndromes
This gene has been classified as Green List (High Evidence).
PIGN was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
PIGN was created by Sarah Leigh