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Newborns main panel

Gene: RSPH4A

Green List (high evidence)
RSPH4A (radial spoke head 4 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000111834
EnsemblGeneIds (GRCh37): ENSG00000111834
OMIM: 612647, Gene2Phenotype
RSPH4A is in 10 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
RSPH4A 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

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes primary ciliary dyskinesia 11 for gene: RSPH4A

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 RSPH4A. Added phenotypes primary ciliary dyskinesia 11 for gene: RSPH4A 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 RSPH4A. Added phenotypes primary ciliary dyskinesia 11 for gene: RSPH4A 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 RSPH4A. 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: RSPH4A was added gene: RSPH4A was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to primary ciliary dyskinesia 11