06 Aug 2019
Early onset or syndromic epilepsy v1.191
RNASET2
Rebecca Foulger Source Wessex and West Midlands GLH was added to RNASET2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
RNASET2
Rebecca Foulger Source NHS GMS was added to RNASET2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
RNASET2
Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
RNASET2
Tracy Lester reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525954; Phenotypes: Leukoencephalopathy cystic without megalencephaly, 612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Nov 2018
Early onset or syndromic epilepsy v0.1251
RNASET2
Sarah Leigh Marked gene: RNASET2 as ready
29 Nov 2018
Early onset or syndromic epilepsy v0.1251
RNASET2
Sarah Leigh Added comment: 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).
29 Nov 2018
Early onset or syndromic epilepsy v0.1251
RNASET2
Sarah Leigh Gene: rnaset2 has been classified as Green List (High Evidence).
29 Nov 2018
Early onset or syndromic epilepsy v0.1251
RNASET2
Sarah Leigh Classified gene: RNASET2 as Green List (high evidence)
29 Nov 2018
Early onset or syndromic epilepsy v0.1251
RNASET2
Sarah Leigh Gene: rnaset2 has been classified as Green List (High Evidence).
29 Nov 2018
Early onset or syndromic epilepsy v0.1247
RNASET2
Sarah Leigh Mode of inheritance for gene: RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal
29 Nov 2018
Early onset or syndromic epilepsy v0.1246
RNASET2
Sarah Leigh Publications for gene: RNASET2 were set to
29 Nov 2018
Early onset or syndromic epilepsy v0.1245
RNASET2
Sarah Leigh Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly 612951
20 Aug 2018
Early onset or syndromic epilepsy
RNASET2
Zornitza Stark reviewed gene: RNASET2
25 Jun 2018
Early onset or syndromic epilepsy
RNASET2
Sarah Leigh Added gene to panel