Early onset or syndromic epilepsy
Gene: SETBP1
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
Gain of function mutations (exon 4) [PMID: 28346496], loss of function mutations have been reported to cause ID with seizures [PMID: 25217958].Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation autosomal dominant 29,616078; Schinzel-Giedion midface retraction syndrome, 269150
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in twelve unrelated cases in which seizures are a phenotypic feature.Created: 3 Dec 2018, 4:01 p.m.
Seizures are part of the phenotype of this syndrome.Created: 21 Aug 2018, 9:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Schinzel-Giedion midface retraction syndrome, MIM#269150
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SETBP1.
Source NHS GMS was added to SETBP1.
Zornitza Stark: Seizures are part of the pheno
Gene: setbp1 has been classified as Green List (High Evidence).
Gene: setbp1 has been classified as Green List (High Evidence).
Publications for gene: SETBP1 were set to
Mode of inheritance for gene: SETBP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome 269150
Expert Review Amber was added to SETBP1. Panel: Genetic Epilepsy Syndromes
SETBP1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
SETBP1 was created by Sarah Leigh