Laterality disorders and isomerismGene: CFAP45
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.
Created: 9 Dec 2020, 8:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Situs inversus; asthenospermia
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