Early onset or syndromic epilepsy

Gene: RTTN

I don't know

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

Green List (high evidence)

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

• 22939636

Green List (high evidence)

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

• 29967526

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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

• 22939636
• 29356416