Early onset or syndromic epilepsy
Gene: SEPSECS
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 Pontocerebellar hypoplasia type 2D (PCH2D) - progressive microcephaly, postnantal onset of progressive atrophy of the cerebellum, profound MR, spasticity and variable seizures. Ben-Zeev et al, 2003 - 4 unrelated patients from non-consang families. 2 had seizures. All had hom/compound het variants. Makrythanasis et al, 2014 - 3 sibs of consang Jordanian parents - all had seizures, hom missense variant. Agamy et al, 2010 - functional work on some variants in this gene - showed to abolish enzyme activity.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
Pontocerebellar hypoplasia type 2D, 613811
Publications
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least three variants identified in unrelated cases of Pontocerebellar hypoplasia type 2D 613811, however, the majority of published cases of this condition do not include seizures.Created: 4 Dec 2018, 10:47 a.m.
Comment on publications: No seizures reported in two milder cases of Pontocerebellar hypoplasia type 2D 613811 in PMID: 26888482. SEPSECS variants not reported in the cases that have seizures (21 trios) in PMID: 25590979. PMID: 26805434 case report of pontocerebellar hypoplasia type 2D and optic nerve atrophy, with homozygous SEPSECS variannt, but no seizures.Created: 4 Dec 2018, 10:38 a.m.
Seizures are part of the phenotype of this brain development disorder.Created: 21 Aug 2018, 9:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2D, MIM#613811
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SEPSECS.
Source NHS GMS was added to SEPSECS.
Zornitza Stark: Seizures are part of the pheno
Gene: sepsecs has been classified as Green List (High Evidence).
Gene: sepsecs has been classified as Green List (High Evidence).
Publications for gene: SEPSECS were set to 20920667; 25044680
Publications for gene: SEPSECS were set to 20920667; 25044680
Publications for gene: SEPSECS were set to 20920667; 25044680
Mode of inheritance for gene: SEPSECS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: SEPSECS was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to
Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D 613811
Expert Review Amber was added to SEPSECS. Panel: Genetic Epilepsy Syndromes
SEPSECS was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
SEPSECS was created by Sarah Leigh