Intracerebral calcification disorders
Gene: NRROS
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
Gene: nrros has been classified as Green List (High Evidence).
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