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  3. RSPH3
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Heterotaxy

Gene: RSPH3

Red List (low evidence)
RSPH3 (radial spoke head 3 homolog)
EnsemblGeneIds (GRCh38): ENSG00000130363
EnsemblGeneIds (GRCh37): ENSG00000130363
OMIM: 615876, Gene2Phenotype
RSPH3 is in 4 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

RSPH3 is associated with PCD without situs invertus (OMIM)
None of the 5 patients reported presented with situs inversus or laterality defects (PMID: 26073779)
Created: 27 May 2020, 12:12 a.m. | Last Modified: 27 May 2020, 12:12 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 32 (MIM#616481)

Publications

Created: 27 May 2020, 12:12 a.m.
Last Modified: 27 May 2020, 12:12 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, 32 (MIM#616481)
OMIM
615876
Clinvar variants
Variants in RSPH3
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: rsph3 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: RSPH3 were changed from to Ciliary dyskinesia, primary, 32 (MIM#616481)

27 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RSPH3 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: RSPH3 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: rsph3 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: RSPH3 was added gene: RSPH3 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RSPH3 was set to Unknown