Intracerebral calcification disorders
Gene: NRROSEnsemblGeneIds (GRCh38): ENSG00000174004
EnsemblGeneIds (GRCh37): ENSG00000174004
OMIM: 615322, Gene2Phenotype
NRROS is in 4 panels
1 review
Sarah Leigh (Genomics England Curator)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: nrros has been classified as Green List (High Evidence).
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