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Genetic epilepsy syndromes

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

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

A further 37 patients (11.4%) (13 TREX1, one RNASEH2A, nine RNASEH2B, seven RNASEH2C, six SAMHD1, one ADAR) demonstrated neurological features at birth in the absence of obvious systemic features. (PMID:25604658). AR Aicardi Goutieres syndrome 4.Muitari et al - 5 patients with a hom variant - only 1 had seizures. Rice et al 2007. Like SAMHD1 mutations reported in Crow et al, 2015 - paper but don't know of the patients with this variant also have seizures?
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome, 610333

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green. Green Review plus Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 4, which can present with seizures. Seizures is a common (at least 50%) feature of patients with AGS. Although it's hard to trace in papers whether the AGS patients specifically with RNASEH2A variants displayed seizures, RNASEH2A variants are a known cause of AGS, and seizures are a common feature of AGS; therefore it is reasonable to include RNASEH2A on the Genetic Epilepsy panel.
Created: 8 Nov 2018, 11:07 a.m.
Crow et al., 2015 (PMID:25604658) report data for 374 mutation-positive patients from 299 families encompassing all seven known AGS-related genes. 140 of 362 patients had seizures. Biallelic RNASEH2A variants were reported in 14 families.
Created: 8 Nov 2018, 11:06 a.m.
Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Seizures were reported in 53% of patients. 4 children from 3 families had biallelic variants in RNASEH2A. 1 individual with RNASEH2A variant who was affected at birth experienced neonatal seizures (Table 2).
Created: 8 Nov 2018, 11:06 a.m.
PMID:29239743 (Mutairi et al., 2018) reviewed the records of 24 unrelated patients with Aicardi-Goutières syndrome from 6 tertiary hospitals in different Arab countries. The most common presenting signs were developmental delay and seizures. 5 patients had homozygous c.557G>A RNASEH2A variants, one of which (case 17, Male) had seizures (Table 1).
Created: 8 Nov 2018, 11:06 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 20 Aug 2018, 10:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 4, MIM#610333

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RNASEH2A.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RNASEH2A.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: rnaseh2a has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: rnaseh2a has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: RNASEH2A were set to

8 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4, 610333

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to RNASEH2A. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RNASEH2A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RNASEH2A was created by Sarah Leigh