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  3. CFAP43
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Rare multisystem ciliopathy disorders

Gene: CFAP43

Red List (low evidence)
CFAP43 (cilia and flagella associated protein 43)
EnsemblGeneIds (GRCh38): ENSG00000197748
EnsemblGeneIds (GRCh37): ENSG00000197748
OMIM: 617558, Gene2Phenotype
CFAP43 is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Downgraded the Spermatogenic failure gene CFAP43 from Green to Red on the Rare Multisystem ciliopathies panel on advice from the Genomics England clinical team: by definition, the phenotype is not a multisystem ciliopathy.
Created: 2 Jul 2019, 2:39 p.m. | Last Modified: 2 Jul 2019, 2:39 p.m.
Panel Version: 1.116
Created: 2 Jul 2019, 2:39 p.m.
Last Modified: 2 Jul 2019, 2:39 p.m.
Panel version: 1.116

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 5 variants reported in 3 unrelated cases
Created: 21 Aug 2017, 12:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 19 617592

Publications

Created: 21 Aug 2017, 12:48 p.m.

Panel version: 1.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spermatogenic failure 19, 617592
OMIM
617558
Clinvar variants
Variants in CFAP43
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CFAP43 were changed from Spermatogenic failure 19 617592 to Spermatogenic failure 19, 617592

2 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cfap43 has been classified as Red List (Low Evidence).

21 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CFAP43 was created by sleigh

21 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CFAP43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Literature