Respiratory ciliopathies including non-CF bronchiectasis
Gene: SPAG17
SPAG17 (sperm associated antigen 17)
EnsemblGeneIds (GRCh38): ENSG00000155761
EnsemblGeneIds (GRCh37): ENSG00000155761
OMIM: 616554, Gene2Phenotype
SPAG17 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000155761
EnsemblGeneIds (GRCh37): ENSG00000155761
OMIM: 616554, Gene2Phenotype
SPAG17 is in 1 panel
1 review
Louise Daugherty (Genomics England Curator)
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: SPAG17; Suggested initial gene rating: Red; Evidence for inclusion: none given; Evidence for exclusion: No association yet with PCD; likely sperm-associated phenotype.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Details
- Sources
-
- Expert Review Red
- NHS GMS
- OMIM
- 616554
- Clinvar variants
- Variants in SPAG17
- Penetrance
- None
- Panels with this gene
History Filter Activity
5 Dec 2018, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to SPAG17.
5 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SPAG17 was added gene: SPAG17 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: SPAG17 was set to