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| 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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| Mendeliome v0.11221 | NANS | Zornitza Stark Marked gene: NANS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11221 | NANS | Zornitza Stark Gene: nans has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11221 | NANS | Zornitza Stark Phenotypes for gene: NANS were changed from to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11220 | NANS | Zornitza Stark Publications for gene: NANS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11219 | NANS | Zornitza Stark Mode of inheritance for gene: NANS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11192 | NANS | Krithika Murali reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8152878, 15726110, 8723082, 27213289, 7551156; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | NANS |
Zornitza Stark gene: NANS was added gene: NANS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NANS was set to Unknown |
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