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  3. RNASET2
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Brain Calcification

Gene: RNASET2

Green List (high 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)

Green List (high evidence)

Intracranial calcification is a feature of this condition.
Sources: Expert list
Created: 24 Jul 2020, 10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951

Publications

Created: 24 Jul 2020, 10 a.m.

Panel version: 0.29

Details

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

History Filter Activity

24 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaset2 has been classified as Green List (High Evidence).

24 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaset2 has been classified as Green List (High Evidence).

24 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNASET2 was added gene: RNASET2 was added to Brain Calcification. 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