Early onset or syndromic epilepsy
Gene: RNASET2
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 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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to RNASET2.
Source NHS GMS was added to RNASET2.
Zornitza Stark: Seizures are part of the pheno
Gene: rnaset2 has been classified as Green List (High Evidence).
Gene: rnaset2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASET2 were set to
Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly 612951
Expert Review Amber was added to RNASET2. Panel: Genetic Epilepsy Syndromes
RNASET2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RNASET2 was created by Sarah Leigh