Early onset or syndromic epilepsy
Gene: ROGDI
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 Kohlschutter-Tonz syndrome - severe global dev delay, early onset inmtractable seizures, spasticity and amelogenesis imperfecta affecting primary and secondary teeth - normal development until seizure onset. Several reported cases where variants idenitfied.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
Kohlschutter-Tonz syndrome, 226750
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in at least 7 unrelated cases.Created: 29 Nov 2018, 3:58 p.m.
Seizures are part of the phenotype.Created: 20 Aug 2018, 10:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kohlschutter-Tonz syndrome, MIM#226750
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to ROGDI.
Source NHS GMS was added to ROGDI.
Zornitza Stark: Seizures are part of the pheno
Gene: rogdi has been classified as Green List (High Evidence).
Gene: rogdi has been classified as Amber List (Moderate Evidence).
Publications for gene: ROGDI were set to
Mode of inheritance for gene: ROGDI was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were changed from to Kohlschutter-Tonz syndrome 226750
Expert Review Amber was added to ROGDI. Panel: Genetic Epilepsy Syndromes
ROGDI was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ROGDI was created by Sarah Leigh