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  3. RNASET2
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Leukodystrophy - adult onset

Gene: RNASET2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Onset is typically in infancy.
Created: 21 Jun 2020, 5:42 a.m. | Last Modified: 21 Jun 2020, 5:42 a.m.
Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951

Publications

Created: 21 Jun 2020, 5:42 a.m.
Last Modified: 21 Jun 2020, 5:42 a.m.
Panel version: 0.69

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly, 612951
OMIM
612944
Clinvar variants
Variants in RNASET2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaset2 has been classified as Amber List (Moderate Evidence).

21 Jun 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNASET2 were set to

21 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaset2 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RNASET2 was added gene: RNASET2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951