| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.612 | DYNC1H1 | Zornitza Stark Marked gene: DYNC1H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.612 | DYNC1H1 | Zornitza Stark Gene: dync1h1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.612 | DYNC1H1 | Zornitza Stark Classified gene: DYNC1H1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.612 | DYNC1H1 | Zornitza Stark Gene: dync1h1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.611 | DYNC1H1 |
Zornitza Stark gene: DYNC1H1 was added gene: DYNC1H1 was added to Cataract. Sources: Literature Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYNC1H1 were set to 27754416; 27331017 Phenotypes for gene: DYNC1H1 were set to Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563 Review for gene: DYNC1H1 was set to AMBER Added comment: PMID 27331017 reports 1 individual with a de novo heterozygous missense DYNC1H1 variant (p.G3658E) presenting with severe malformation of cortical development and bilateral congenital cataract. PMID 27754416 reports a second individual with a de novo heterozygous missense DYNC1H1 variant (p.R2332C) presenting with congenital cataracts, polymicrogyria, developmental delay, gut dysmotility and sensory neuropathy. Sources: Literature |
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