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  3. CFAP45
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Laterality disorders and isomerism

Gene: CFAP45

Green List (high evidence)
CFAP45 (cilia and flagella associated protein 45)
EnsemblGeneIds (GRCh38): ENSG00000213085
EnsemblGeneIds (GRCh37): ENSG00000213085
OMIM: 605152, Gene2Phenotype
CFAP45 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
Created: 31 Jan 2023, 1:07 p.m.
Last Modified: 31 Jan 2023, 1:07 p.m.
Panel version: 2.3

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
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

Created: 9 Dec 2020, 8:29 a.m.

Panel version: 1.20

Details

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

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: CFAP45.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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)

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