Laterality disorders and isomerism
Gene: CFAP45
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 1:07 p.m. | Last Modified: 31 Jan 2023, 1:07 p.m.
Panel Version: 2.3
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.Created: 12 Apr 2021, 2:43 p.m. | Last Modified: 12 Apr 2021, 2:43 p.m.
Panel Version: 1.23
Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: LiteratureCreated: 9 Dec 2020, 8:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Situs inversus; asthenospermia
Publications
Tag Q2_21_rating was removed from gene: CFAP45.
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)
Gene: cfap45 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Situs inversus, MONDO:0010029; male infertility due to sperm motility disorder, MONDO:0018395
Tag Q2_21_rating tag was added to gene: CFAP45.
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