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  2. Heterotaxy
  3. CFAP45
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Heterotaxy

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype.
Sources: Literature
Created: 7 Dec 2020, 8:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608

Publications

Created: 7 Dec 2020, 8:05 a.m.

Panel version: 1.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
OMIM
605152
Clinvar variants
Variants in CFAP45
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap45 has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap45 has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap45 has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFAP45 was added gene: CFAP45 was added to Heterotaxy. 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