Early onset or syndromic epilepsy

Gene: RNASET2

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 cystic leukoencephalopathy with megalencephaly. Henneke et al, 2009 - 7 individuals from 5 families - 5/7 from 4 families presented with epilepsy in childhood. Henneke et al 2005 - 15 white infants incl 2 sibs and 2 frst cousins - seizures reported as a variable feature.

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
Leukoencephalopathy cystic without megalencephaly, 612951

Publications

• 19525954

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in 5 unrelated cases, seizures were a phenotypic feature in 4 cases. Supportive functional studies were also presented (PMID 19525954).

Created: 29 Nov 2018, 12:37 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this leukodystrophy.

Created: 20 Aug 2018, 10:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, cystic, without megalencephaly, MIM#612951

Publications

• 19525954

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