Hydrocephalus
Gene: RNASEH2A
RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Hydrocephalus is not a clear feature. Microcephaly and intracranial calcification are key features, along with ID. Not likely to be ascertained via this route.Created: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 4
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Literature
- Phenotypes
-
- Aicardi-Goutieres syndrome 4
- OMIM
- 606034
- Clinvar variants
- Variants in RNASEH2A
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intracerebral calcification disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hydrocephalus
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Juvenile dermatomyositis
- DDG2P
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
History Filter Activity
29 Jul 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RNASEH2A.
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
9 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RNASEH2A was added to Hydrocephaluspanel. Source: Expert Review Red
9 May 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)RNASEH2A was added to Hydrocephaluspanel. Sources: Literature
9 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)RNASEH2A was created by helen.brittain