1. Panels
  2. Cystic kidney disease
  3. CFAP47
STRs in panel
Prev Next

Cystic kidney disease

Gene: CFAP47

Amber List (moderate evidence)
CFAP47 (cilia and flagella associated protein 47)
EnsemblGeneIds (GRCh38): ENSG00000165164
EnsemblGeneIds (GRCh37): ENSG00000165164
CFAP47 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (three unrelated cases and functional work) for the promotion of this gene to green rating in the next GMS update.
Created: 23 Dec 2024, 7:21 p.m. | Last Modified: 23 Dec 2024, 7:21 p.m.
Panel Version: 7.10
PMID:39698362 reported the identification of three different rare missense variants in CFAP47 gene in three male patients with polycystic kidney disease. Some functional work is also available in support of the association.

This gene has not yet been associated with polycystic kidney disease phenotype either in OMIM or in Gene2Phenotype.
Created: 23 Dec 2024, 7:20 p.m. | Last Modified: 23 Dec 2024, 7:20 p.m.
Panel Version: 7.7

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
polycystic kidney disease, MONDO:0020642

Publications

Created: 23 Dec 2024, 7:20 p.m.
Last Modified: 23 Dec 2024, 7:20 p.m.
Panel version: 7.7

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Three cases & some functional work described in PMID: 38633811 (now published).
Sources: Literature
Created: 3 Dec 2024, 11:44 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
PKD

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 3 Dec 2024, 11:44 a.m.

Panel version: 7.7

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • polycystic kidney disease, MONDO:0020642
Tags
Q4_24_promote_green
Clinvar variants
Variants in CFAP47
Penetrance
unknown
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

23 Dec 2024, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_24_promote_green tag was added to gene: CFAP47.

23 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: cfap47 has been classified as Amber List (Moderate Evidence).

23 Dec 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CFAP47 were changed from PKD to polycystic kidney disease, MONDO:0020642

23 Dec 2024, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CFAP47 were set to PMID: 38633811

3 Dec 2024, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: CFAP47 was added gene: CFAP47 was added to Cystic kidney disease. Sources: Literature Mode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CFAP47 were set to PMID: 38633811 Phenotypes for gene: CFAP47 were set to PKD Penetrance for gene: CFAP47 were set to unknown Mode of pathogenicity for gene: CFAP47 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CFAP47 was set to GREEN