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Early onset or syndromic epilepsy

Gene: NRROS

Green List (high evidence)

NRROS (negative regulator of reactive oxygen species)
EnsemblGeneIds (GRCh38): ENSG00000174004
EnsemblGeneIds (GRCh37): ENSG00000174004
OMIM: 615322, Gene2Phenotype
NRROS is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 7 Jul 2020, 5:26 p.m. | Last Modified: 7 Jul 2020, 5:26 p.m.
Panel Version: 2.113
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification. At least 6 variants reported in at least 5 unrelated cases (PMIDs 32100099;32197075), together with supportive mouse model (PMID 28459434).
Sources: Literature
Created: 7 Jul 2020, 5:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seizures, early-onset, with neurodegeneration and brain calcification 618875

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Seizures, early-onset, with neurodegeneration and brain calcification 618875
OMIM
615322
Clinvar variants
Variants in NRROS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: NRROS.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to NRROS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nrros has been classified as Amber List (Moderate Evidence).

7 Jul 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: NRROS was added gene: NRROS was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: NRROS. Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRROS were set to 32100099; 32197075; 28459434 Phenotypes for gene: NRROS were set to Seizures, early-onset, with neurodegeneration and brain calcification 618875 Review for gene: NRROS was set to GREEN