Laterality disorders and isomerism
Gene: C21orf59EnsemblGeneIds (GRCh38): ENSG00000159079
EnsemblGeneIds (GRCh37): ENSG00000159079
OMIM: 615494, Gene2Phenotype
C21orf59 is in 6 panels
1 review
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298Created: 9 May 2019, 3:15 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: C21orf59; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 12:52 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 26, 615500
- Tags
- OMIM
- 615494
- Clinvar variants
- Variants in C21orf59
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: C21orf59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, 615500
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: C21orf59.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to C21orf59. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: C21orf59 was added gene: C21orf59 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: C21orf59 was set to