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| Mendeliome v1.4590 | DYNC1H1 | Zornitza Stark Publications for gene: DYNC1H1 were set to 25512093; 28196890; 21820100; 32788638; 27549087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4589 | DYNC1H1 | Zornitza Stark edited their review of gene: DYNC1H1: Changed phenotypes: dyneinopathy MONDO:1040031, Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228, Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563, Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4589 | DYNC1H1 | Zornitza Stark edited their review of gene: DYNC1H1: Changed phenotypes: dyneinopathy MONDO:1040031, Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228, Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4589 | DYNC1H1 | Zornitza Stark edited their review of gene: DYNC1H1: Changed phenotypes: dyneinopathy MONDO:1040031, Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4589 | DYNC1H1 | Zornitza Stark edited their review of gene: DYNC1H1: Added comment: PMID 38848546 reports 47 individuals from 43 families with pathogenic heterozygous variants in DYNC1H1 (aged 0-59 years). Most individuals presented with divergent neurological and multisystem features such as autonomic features, behavioural disorders, movement disorders, and periventricular lesions. Sensory neuropathy was identified in nine patients (median age of onset 10.6 years), of which five were only diagnosed after the second decade of life, and three had a progressive age-dependent sensory neuropathy. Novel multisystem features included primary immunodeficiency, bilateral sensorineural hearing loss, organ anomalies, and skeletal manifestations, resembling the phenotypic spectrum of other dyneinopathies. Age-dependent biphasic disease course observed with developmental regression in the first decade and, following a period of stability, neurodegenerative progression after the second decade of life. Of note, in several cases neurodegeneration appeared to be prompted by intercurrent systemic infections with double-stranded DNA viruses (Herpesviridae) or single-stranded RNA viruses (Ross-River fever, SARS-CoV-2). Moreover, the disease course appeared to be exacerbated by viral infections regardless of age and/or severity of NDD manifestations, indicating a role of dynein in anti-viral immunity and neuronal health.; Changed publications: 21820100, 32788638, 27549087, 38848546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2382 | DYNC1H1 | Bryony Thompson Publications for gene: DYNC1H1 were set to 25512093; 28196890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2381 | DYNC1H1 | Bryony Thompson Phenotypes for gene: DYNC1H1 were changed from Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity-predominant 1 to dyneinopathy MONDO:1040031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1865 | DYNC1H1 | Zornitza Stark Marked gene: DYNC1H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1865 | DYNC1H1 | Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1865 | DYNC1H1 | Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from to Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity-predominant 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1864 | DYNC1H1 | Zornitza Stark Publications for gene: DYNC1H1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1863 | DYNC1H1 | Zornitza Stark Mode of pathogenicity for gene: DYNC1H1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1862 | DYNC1H1 | Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1842 | DYNC1H1 | Elena Savva reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25512093, 28196890; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant 1; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | DYNC1H1 |
Zornitza Stark gene: DYNC1H1 was added gene: DYNC1H1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DYNC1H1 was set to Unknown |
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