| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.1206 | C1orf194 | Zornitza Stark Phenotypes for gene: C1orf194 were changed from Charcot-Marie-Tooth disease, intermediate or demyelinating to Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1205 | C1orf194 | Zornitza Stark edited their review of gene: C1orf194: Changed rating: AMBER; Changed phenotypes: Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4583 | C1orf194 | Zornitza Stark Phenotypes for gene: C1orf194 were changed from Charcot-Marie-Tooth to Charcot-Marie-Tooth disease, intermediate or demyelinating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4582 | C1orf194 | Zornitza Stark Publications for gene: C1orf194 were set to PMID: 31199454 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4557 | C1orf194 | Arina Puzriakova changed review comment from: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; to: PMID: 32592472 (2020) - An additional knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4557 | C1orf194 | Arina Puzriakova reviewed gene: C1orf194: Rating: ; Mode of pathogenicity: None; Publications: 32592472; Phenotypes: Charcot-Marie-Tooth; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2493 | C1orf194 | Zornitza Stark Marked gene: C1orf194 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2493 | C1orf194 | Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2493 | C1orf194 | Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2493 | C1orf194 | Zornitza Stark Mode of pathogenicity for gene: C1orf194 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2492 | C1orf194 | Zornitza Stark Classified gene: C1orf194 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2492 | C1orf194 | Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2439 | C1orf194 |
Ain Roesley gene: C1orf194 was added gene: C1orf194 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: C1orf194 were set to PMID: 31199454 Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth Review for gene: C1orf194 was set to AMBER Added comment: PMID: 31199454; 2 missense variants in 2 large families segregating in an AD pattern. Mouse models for one of the variants (p.(Ile121Asn) led to impairments in moto and neuromuscular functions Sources: Literature |
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