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  3. RNASEH2A
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Leukodystrophy - paediatric

Gene: RNASEH2A

Green List (high evidence)
RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 20 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Leukodystrophy is a common feature, onset is typically in infancy.
Sources: Expert list
Created: 21 Jun 2020, 5:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 4, MIM# 610333

Publications

Created: 21 Jun 2020, 5:51 a.m.

Panel version: 0.163

History Filter Activity

21 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaseh2a 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: rnaseh2a 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: RNASEH2A was added gene: RNASEH2A was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 16845400; 23592335; 17846997 Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, MIM# 610333 Review for gene: RNASEH2A was set to GREEN