White matter disorders and cerebral calcification - childhood onset
Gene: RNASET2
RNASET2 (ribonuclease T2)
EnsemblGeneIds (GRCh38): ENSG00000026297
EnsemblGeneIds (GRCh37): ENSG00000026297
OMIM: 612944, Gene2Phenotype
RNASET2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000026297
EnsemblGeneIds (GRCh37): ENSG00000026297
OMIM: 612944, Gene2Phenotype
RNASET2 is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukoencephalopathy, cystic, without megalencephaly
- OMIM
- 612944
- Clinvar variants
- Variants in RNASET2
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Intracerebral calcification disorders
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Leukodystrophy, adult onset
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Inherited white matter disorders
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RNASET2 was added gene: RNASET2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly