Hydrocephalus

Gene: RNASEH2A

Red List (low evidence)

RNASEH2A (ribonuclease H2 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000104889
EnsemblGeneIds (GRCh37): ENSG00000104889
OMIM: 606034, Gene2Phenotype
RNASEH2A is in 17 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Red
Created: 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)

Red List (low evidence)

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

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