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Newborns main panel

Gene: RSPH1

Green List (high evidence)
RSPH1 (radial spoke head 1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000160188
EnsemblGeneIds (GRCh37): ENSG00000160188
OMIM: 609314, Gene2Phenotype
RSPH1 is in 7 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
RSPH1 curation results (clinicalgenome.org)
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
  • primary ciliary dyskinesia 24
OMIM
609314
Clinvar variants
Variants in RSPH1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes primary ciliary dyskinesia 24 for gene: RSPH1

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 RSPH1. Added phenotypes primary ciliary dyskinesia 24 for gene: RSPH1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RSPH1. Added phenotypes primary ciliary dyskinesia 24 for gene: RSPH1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RSPH1. Rating Changed from Amber List (moderate evidence) to No List (delete)

27 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: RSPH1 was added gene: RSPH1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH1 were set to primary ciliary dyskinesia 24