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  3. RNASEH2B
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Leukodystrophy - paediatric

Gene: RNASEH2B

Green List (high evidence)
RNASEH2B (ribonuclease H2 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Leukodystrophy is common in AGS in general, though basal ganglia calcification seems to predominate here.
Sources: Expert list
Created: 21 Jun 2020, 5:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 2, MIM# 610181

Publications

Created: 21 Jun 2020, 5:48 a.m.

Panel version: 0.161

History Filter Activity

21 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaseh2b has been classified as Green List (High Evidence).

21 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaseh2b has been classified as Green List (High Evidence).

21 Jun 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: RNASEH2B was added gene: RNASEH2B was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 16845400 Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, MIM# 610181 Review for gene: RNASEH2B was set to GREEN