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Newborns main panel

Gene: RSPH3

Green List (high evidence)
RSPH3 (radial spoke head 3 homolog)
EnsemblGeneIds (GRCh38): ENSG00000130363
EnsemblGeneIds (GRCh37): ENSG00000130363
OMIM: 615876, Gene2Phenotype
RSPH3 is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 26073779 (5 Patients),
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

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
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 32 for gene: RSPH3

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RSPH3. Added phenotypes Ciliary dyskinesia, primary, 32 for gene: RSPH3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: RSPH3 was added gene: RSPH3 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH3 were set to Ciliary dyskinesia, primary, 32