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| Ciliary Dyskinesia v0.81 | DNAH6 | Zornitza Stark Marked gene: DNAH6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.81 | DNAH6 | Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.81 | DNAH6 | Zornitza Stark Mode of inheritance for gene: DNAH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.80 | DNAH6 | Zornitza Stark Classified gene: DNAH6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.80 | DNAH6 | Zornitza Stark Gene: dnah6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.79 | DNAH6 | Zornitza Stark reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: None; Publications: 26918822; Phenotypes: Heterotaxy, male infertility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.76 | DNAH6 |
Elena Savva gene: DNAH6 was added gene: DNAH6 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: DNAH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNAH6 were set to PMID: 26918822; 28206990; 31676830; 29356036 Phenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia Review for gene: DNAH6 was set to AMBER Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1. PMID: 28206990 - 1 homozygous family (2 siblings) with azoospermia. Authors note no recurrent respiratory infections PMID: 31676830 - 2 chet unrelated families with spermatogenesis defects, and specifically noted to have no PCD manifestations. Phenotypes included sperm flagella defects. Patients carried missense and frameshift mutations. PMID: 29356036 - 1 chet patient (missense) with globozoospermia and acephalic spermatozoa. Functional analysis showed near null gene expression. Summary: Multiple patients + animal model with some features of PCD but nothing convincing Sources: Expert list |
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