Cystic kidney disease
Gene: CFAP47EnsemblGeneIds (GRCh38): ENSG00000165164
EnsemblGeneIds (GRCh37): ENSG00000165164
CFAP47 is in 2 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 2:25 p.m. | Last Modified: 11 Mar 2026, 2:25 p.m.
Panel Version: 8.7
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
Dmitrijs Rots (Children's Clinical University Hospital)
Three cases & some functional work described in PMID: 38633811 (now published).
Sources: LiteratureCreated: 3 Dec 2024, 11:44 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
PKD
Publications
- PMID: 38633811
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- polycystic kidney disease, MONDO:0020642
- Tags
- 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
Added Tag
Ida Ertmanska (Genomics England Curator)Tag gene-checked tag was added to gene: CFAP47.
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_24_promote_green was removed from gene: CFAP47.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to CFAP47. Source Expert Review Green was added to CFAP47. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_24_promote_green tag was added to gene: CFAP47.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cfap47 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CFAP47 were changed from PKD to polycystic kidney disease, MONDO:0020642
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: CFAP47 were set to PMID: 38633811
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