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| Laterality disorders and isomerism v2.3 | CFAP45 | Sarah Leigh Tag Q2_21_rating was removed from gene: CFAP45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v2.3 | CFAP45 | Sarah Leigh reviewed gene: CFAP45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v2.2 | CFAP45 |
Sarah Leigh Source Expert Review Green was added to CFAP45. Source NHS GMS was added to CFAP45. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v1.23 | CFAP45 | Ivone Leong Classified gene: CFAP45 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.23 | CFAP45 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.23 | CFAP45 | Ivone Leong Gene: cfap45 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.22 | CFAP45 | Ivone Leong Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Situs inversus, MONDO:0010029; male infertility due to sperm motility disorder, MONDO:0018395 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.21 | CFAP45 | Ivone Leong Tag Q2_21_rating tag was added to gene: CFAP45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.20 | CFAP45 |
Zornitza Stark gene: CFAP45 was added gene: CFAP45 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP45 were set to 33139725 Phenotypes for gene: CFAP45 were set to Situs inversus; asthenospermia Review for gene: CFAP45 was set to GREEN Added comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype. Sources: Literature |
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