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  3. RSPH1
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Heterotaxy

Gene: RSPH1

Red List (low evidence)
RSPH1 (radial spoke head 1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000160188
EnsemblGeneIds (GRCh37): ENSG00000160188
OMIM: 609314, Gene2Phenotype
RSPH1 is in 7 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Gene has been reported in PCD families without situs invertus (OMIM)

12 patients from 10 families reported with situs solitus.
Created: 27 May 2020, 12:35 a.m. | Last Modified: 27 May 2020, 12:35 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 24 (MIM#615481)

Publications

Created: 27 May 2020, 12:35 a.m.
Last Modified: 27 May 2020, 12:35 a.m.
Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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

27 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rsph1 has been classified as Red List (Low Evidence).

27 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)

27 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RSPH1 were set to

27 May 2020, Gel status: 1

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

27 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rsph1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

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 Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RSPH1 was set to Unknown