Laterality disorders and isomerism

Gene: CFAP45

Amber List (moderate evidence)

CFAP45 (cilia and flagella associated protein 45)
EnsemblGeneIds (GRCh38): ENSG00000213085
EnsemblGeneIds (GRCh37): ENSG00000213085
OMIM: 605152, Gene2Phenotype
CFAP45 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: Literature
Created: 9 Dec 2020, 8:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Situs inversus; asthenospermia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Situs inversus, MONDO:0010029
  • male infertility due to sperm motility disorder, MONDO:0018395
Tags
Q2_21_rating
OMIM
605152
Clinvar variants
Variants in CFAP45
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cfap45 has been classified as Amber List (Moderate Evidence).

12 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Situs inversus, MONDO:0010029; male infertility due to sperm motility disorder, MONDO:0018395

12 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CFAP45.

9 Dec 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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