Early onset or syndromic epilepsy
Gene: ZBTB18
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
AD Mental retardation type 22 - seizures have been reported with this syndrome but apparantly the phenotype can be quite variableCreated: 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 22, 612337
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in unrelated cases.Created: 4 Sep 2018, 10:26 a.m.
Seizures are part of the phenotype of this intellectual disability syndrome.Created: 22 Aug 2018, 9:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 22, MIM#612337
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to ZBTB18.
Source NHS GMS was added to ZBTB18.
Zornitza Stark: Seizures are part of the pheno
Gene: zbtb18 has been classified as Green List (High Evidence).
Phenotypes for gene: ZBTB18 were set to Mental retardation, autosomal dominant 22, 612337
Publications for gene: ZBTB18 were set to 27598823; 24193349; 26740508
Mode of inheritance for gene: ZBTB18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: zbtb18 has been classified as Green List (High Evidence).
Expert Review Amber was added to ZBTB18. Panel: Genetic Epilepsy Syndromes
ZBTB18 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ZBTB18 was created by Sarah Leigh