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Intellectual disability

Gene: NRROS

Amber List (moderate evidence)

NRROS (negative regulator of reactive oxygen species)
EnsemblGeneIds (GRCh38): ENSG00000174004
EnsemblGeneIds (GRCh37): ENSG00000174004
OMIM: 615322, Gene2Phenotype
NRROS is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: 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).
Created: 7 Jul 2020, 5:23 p.m. | Last Modified: 7 Jul 2020, 5:23 p.m.
Panel Version: 3.154
There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 7 Jul 2020, 5:22 p.m. | Last Modified: 7 Jul 2020, 5:22 p.m.
Panel Version: 3.153

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Normal development or mild developmental delay until onset of regression around age of 1 concurrent with epilepsy
Biallelic LOF mutations with functional evidence of pathogenicity reported in 6 unrelated families. Suggest also add to Epilepsy panel, possibly others.
Sources: Literature
Created: 20 Apr 2020, 2:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodegeneration; intracranial calcification; epilepsy

Publications

Details

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

History Filter Activity

5 Aug 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: NRROS.

7 Jul 2020, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NRROS were changed from neurodegeneration; intracranial calcification; epilepsy to Seizures, early-onset, with neurodegeneration and brain calcification 618875

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: 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: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NRROS were set to 32100099; 32197075

20 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NRROS was added gene: NRROS was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRROS were set to 32100099; 32197075 Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy Review for gene: NRROS was set to GREEN