Primary ciliary disorders
Gene: RSPH3EnsemblGeneIds (GRCh38): ENSG00000130363
EnsemblGeneIds (GRCh37): ENSG00000130363
OMIM: 615876, Gene2Phenotype
RSPH3 is in 6 panels
3 reviews
Caroline Wright (Genomics England Curator)
Comment on list classification: REF 26073779: We identified non-ambiguous RSPH3 mutations in 5 of 48 independent families affected by CC/RS defects.Created: 10 May 2016, 9:53 a.m.
Ian Berry (Leeds Genetics Laboratory)
See Jeanson et al. Am J Hum Genet. 2015 Jul 2;97(1):153-62.Created: 8 Dec 2015, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 32, 616481
Variants in this GENE are reported as part of current diagnostic practice
Hannah Mitchison (UCL and GOSH)
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 32
Publications
- PMID:26073779
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliary dyskinesia, primary, 32
- OMIM
- 615876
- Clinvar variants
- Variants in RSPH3
- Penetrance
- Complete
- Publications
-
- PMID:26073779
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Hannah Mitchison (UCL and GOSH)RSPH3 was created by hmitchis
Added New Source
Hannah Mitchison (UCL and GOSH)RSPH3 was added to Primary ciliary disorderspanel. Sources: Expert Review