| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4002 | CFAP43 | Zornitza Stark Phenotypes for gene: CFAP43 were changed from Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592 to Spermatogenic failure 19 MONDO:0054723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4001 | CFAP43 | Zornitza Stark Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4000 | CFAP43 | Zornitza Stark Mode of inheritance for gene: CFAP43 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3999 | CFAP43 | Zornitza Stark Classified gene: CFAP43 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3999 | CFAP43 | Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3998 | CFAP43 |
Zornitza Stark changed review comment from: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies. DEFINITIVE by ClinGen for this association. Note association with PCD is DISPUTED. Weak evidence for association with hydrocephalus.; to: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies. DEFINITIVE by ClinGen for this association. Note association with PCD is DISPUTED. LIMITED for association with hydrocephalus. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3998 | CFAP43 |
Zornitza Stark edited their review of gene: CFAP43: Added comment: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies. DEFINITIVE by ClinGen for this association. Note association with PCD is DISPUTED. Weak evidence for association with hydrocephalus.; Changed rating: GREEN; Changed publications: 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611; Changed phenotypes: Spermatogenic failure 19 MONDO:0054723 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2802 | CFAP43 | Zornitza Stark Classified gene: CFAP43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2802 | CFAP43 | Zornitza Stark Gene: cfap43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2801 | CFAP43 | Zornitza Stark edited their review of gene: CFAP43: Added comment: DISPUTED by ClinGen for biallelic association with PCD.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2743 | CFAP43 | Zornitza Stark Marked gene: CFAP43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2743 | CFAP43 | Zornitza Stark Added comment: Comment when marking as ready: Good evidence for bi-allelic disease, much less so for mono-allelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2743 | CFAP43 | Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2743 | CFAP43 | Zornitza Stark Classified gene: CFAP43 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2743 | CFAP43 | Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2742 | CFAP43 |
Elena Savva gene: CFAP43 was added gene: CFAP43 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551 Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592 Added comment: aka WDR96 PMID: 31884020 - animal models (mouse, frog) demonstrate the protein localizes in ciliary axoneme and is involved in MOTILE cilia movement. LOF CFAP43 caused mucus acucmulation in airways, impaired spermatogenesis and hydrocephalus. PMID: 28552195 - 3x chet (bilallelic PTCs or chet PTC/missense) with abnormal sperm motility. Null mouse models were also infertile. PMID: 31004071 - one family with a heterozygous nonsense and AD inheritance of late onset hydrocephaly (checked in Mutalyzer, variant is NMD predicted). Abnormal cilia observed from mucosa sample. Null mice also show abnormal sperm and dilation of brain ventricles. PMID: 29449551 - reports an additional 10 patients with either homozygous PTCs or chet PTC/missense who were infertile with flagella defects Summary: single report of AD hydrocephaly Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||