This Panel is marked as Deleted
GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: C21orf59
C21orf59 (chromosome 21 open reading frame 59)
EnsemblGeneIds (GRCh38): ENSG00000159079
EnsemblGeneIds (GRCh37): ENSG00000159079
OMIM: 615494, Gene2Phenotype
C21orf59 is in 6 panels
EnsemblGeneIds (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 intial 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: 26 Nov 2018, 2:25 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- Tags
- OMIM
- 615494
- Clinvar variants
- Variants in C21orf59
- Penetrance
- None
- Panels with this gene
History Filter Activity
9 May 2019, Gel status: 4
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: C21orf59.
26 Nov 2018, Gel status: 3
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)
26 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: C21orf59 was added gene: C21orf59 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: C21orf59 was set to