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