Nucleotide metabolism disorders
Gene: RNASET2

RNASET2 (ribonuclease T2)
EnsemblGeneIds (GRCh38): ENSG00000026297
EnsemblGeneIds (GRCh37): ENSG00000026297
OMIM: 612944, Gene2Phenotype
RNASET2 is in 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 families reported
Created: 21 Feb 2022, 3:15 a.m. | Last Modified: 21 Feb 2022, 3:15 a.m.

Panel Version: 0.11011

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

Created: 21 Feb 2022, 3:15 a.m.
Last Modified: 21 Feb 2022, 3:15 a.m.
Panel version: Imported from Mendeliome panel version 0.11011

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Disorders of ectonucleotide and nucleic acid metabolism
cystic leukoencephalopathy without megalencephaly MONDO:0013058

OMIM

612944

Clinvar variants

Variants in RNASET2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RNASET2 was added gene: RNASET2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 19525954; 29336640; 15851732; 27091087; 31349848; 18545798 Phenotypes for gene: RNASET2 were set to Disorders of ectonucleotide and nucleic acid metabolism; cystic leukoencephalopathy without megalencephaly MONDO:0013058

Nucleotide metabolism disorders Gene: RNASET2