| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4559 | NRDC | Zornitza Stark Marked gene: NRDC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4559 | NRDC | Zornitza Stark Gene: nrdc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4559 | NRDC | Zornitza Stark Classified gene: NRDC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4559 | NRDC | Zornitza Stark Gene: nrdc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4558 | NRDC | Zornitza Stark reviewed gene: NRDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 41734767, 41449824, 28017472; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, NRDC-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4201 | NRDC | Rylee Peters Classified gene: NRDC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4201 | NRDC | Rylee Peters Gene: nrdc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4200 | NRDC |
Rylee Peters gene: NRDC was added gene: NRDC was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRDC were set to 41449824; 28017472; 34582790; 19935654 Phenotypes for gene: NRDC were set to Neurodevelopmental disorder, MONDO:0700092, NRDC-related Review for gene: NRDC was set to AMBER Added comment: Two unrelated families reported with the same homozygous NMD-predicted frameshift variant. PMID: 41449824 describes two affected siblings with severe neurodevelopmental disorder (developmental delay, microcephaly, hypotonia, seizures, absent speech). PMID: 28017472 reports one individual with severe global developmental delay, ataxia, progressive neurodegeneration, and acquired microcephaly. PMID: 34582790 describes an additional homozygous splice variant (NRDC c.3081-2A>G) in an infant with developmental delay, ventricular dilatation and large nevi; however, the individual was also homozygous for a pathogenic NANS missense variant (c.635T>C; p.I212T), which has an established gene–disease association. PMID: 19935654 | Nrd1−/− mice show reduced brain size, thin cerebral cortex, central and peripheral hypomyelination, with motor impairment and cognitive deficits. Sources: Literature |
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