Intracerebral calcification disorders
Gene: RNASET2EnsemblGeneIds (GRCh38): ENSG00000026297
EnsemblGeneIds (GRCh37): ENSG00000026297
OMIM: 612944, Gene2Phenotype
RNASET2 is in 11 panels
1 review
Zornitza Stark (Australian Genomics)
Intracranial calcification is a feature of this condition.
Sources: Expert listCreated: 24 Jul 2020, 10:02 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951
- OMIM
- 612944
- Clinvar variants
- Variants in RNASET2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: RNASET2 was added gene: RNASET2 was added to Intracerebral calcification disorders. Sources: Expert list Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 19525954 Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Review for gene: RNASET2 was set to GREEN gene: RNASET2 was marked as current diagnostic