Ciliary Dyskinesia
Gene: RSPH1EnsemblGeneIds (GRCh38): ENSG00000160188
EnsemblGeneIds (GRCh37): ENSG00000160188
OMIM: 609314, Gene2Phenotype
RSPH1 is in 7 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Biallelic variants reported in multiple families.
PMID: 23993197; Kott 2013: Reported 7 different variants in 10 families. Variants reported not present in gnomAD at unexpected frequencies (no homozygotes)Created: 27 May 2020, 12:31 a.m. | Last Modified: 27 May 2020, 12:31 a.m.
Panel Version: 0.100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 24 (MIM#615481)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ciliary dyskinesia, primary, 24 (MIM#615481)
- OMIM
- 609314
- Clinvar variants
- Variants in RSPH1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rsph1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RSPH1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RSPH1 was added gene: RSPH1 was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RSPH1 was set to Unknown