Early onset or syndromic epilepsy
Gene: RTTN
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 microcephaly, short stature and polymicroyria with seizures. Kheradmand Kia et al, 2012 - consng Turkish family 2 sibs and another family member who had seizures as part of their phenotype - hom RTTN missense variant. Also an unrelated boy with seizures - hom for a diff missense variant. Gene expression profiling done on both variants. Shamseldin et al, 2015 - 3 unrelated families none of whom had seizures but had other features of disease - all had hom or compound het variants.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
Microcephaly short stature and polymicrogyria with seizures, 614833
Publications
Note additional report of a patient with seizures. Bi-allelic variants cause a complex brain development disorder, and seizures are part of the phenotype in a reasonable number of reported patients.Created: 20 Aug 2018, 12:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Green rating based on previous evidence and report of an additional case displaying seizures in PMID 29967526.Created: 26 Sep 2018, 2:01 p.m.
Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 6 variants reported 5 families. Seizures were only reported in 2 families.Created: 10 Apr 2018, 3:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures 614833
Publications
Source Wessex and West Midlands GLH was added to RTTN.
Source NHS GMS was added to RTTN.
Sarah Leigh: Gene originally listed on the
Gene: rttn has been classified as Green List (High Evidence).
Publications for gene: RTTN were set to 26608784
Gene: rttn has been classified as Green List (High Evidence).
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to RTTN. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to RTTN. Panel: Genetic Epilepsy Syndromes Publications for gene RTTN was set to ['26608784']
This gene has been classified as Amber List (Moderate Evidence).
RTTN was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
RTTN was created by Sarah Leigh