Intracerebral calcification disorders

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 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: sufficient evidence for this gene to be green.
Created: 5 Aug 2020, 3:36 p.m. | Last Modified: 5 Aug 2020, 3:36 p.m.
Panel Version: 1.21
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: 5 Aug 2020, 3:36 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

5 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

5 Aug 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: NRROS was added gene: NRROS was added to Intracerebral calcification disorders. Sources: Literature 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