Laterality disorders and isomerism
Gene: CFAP52EnsemblGeneIds (GRCh38): ENSG00000166596
EnsemblGeneIds (GRCh37): ENSG00000166596
OMIM: 609804, Gene2Phenotype
CFAP52 is in 2 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.Created: 12 Apr 2021, 3:12 p.m. | Last Modified: 12 Apr 2021, 3:12 p.m.
Panel Version: 1.25
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- visceral heterotaxy, MONDO:0018677
- OMIM
- 609804
- Clinvar variants
- Variants in CFAP52
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: CFAP52.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to CFAP52. Source NHS GMS was added to CFAP52. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: CFAP52.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cfap52 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CFAP52 were changed from Heterotaxy to visceral heterotaxy, MONDO:0018677
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: CFAP52 was added gene: CFAP52 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP52 were set to 25469542; 33139725 Phenotypes for gene: CFAP52 were set to Heterotaxy Review for gene: CFAP52 was set to GREEN