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Molecular autopsy

Gene: RNASET2

Amber List (moderate evidence)
RNASET2 (ribonuclease T2)
EnsemblGeneIds (GRCh38): ENSG00000026297
EnsemblGeneIds (GRCh37): ENSG00000026297
OMIM: 612944, Gene2Phenotype
RNASET2 is in 11 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism)
  • Inherited white matter disorders
OMIM
612944
Clinvar variants
Variants in RNASET2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Intellectual disability; RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism); Inherited white matter disorders for gene: RNASET2

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: RNASET2 was added gene: RNASET2 was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 27604308 Phenotypes for gene: RNASET2 were set to Intellectual disability; RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism); Inherited white matter disorders