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  3. RSPH4A
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Ductal plate malformation

Gene: RSPH4A

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

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Red gene on the Rare ciliopathy panel. Demoted from amber to red as insufficient evidence
Created: 12 Nov 2018, 1:55 p.m.
Created: 12 Nov 2018, 1:55 p.m.

Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Ciliary dyskinesia, primary, 11 (612649)
OMIM
612647
Clinvar variants
Variants in RSPH4A
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Red gene on the Rare ciliopath

12 Nov 2018, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to RSPH4A. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

9 Nov 2018, Gel status: 2

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source Expert list was added to RSPH4A. Mode of inheritance for gene RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Nov 2018, Gel status: 2

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Emory Genetics Laboratory was added to RSPH4A. Source UKGTN was added to RSPH4A. Rating Changed from No List (delete) to Amber List (moderate evidence)

6 Nov 2018, Gel status: 0

Clear Sources

Ivone Leong (Genomics England Curator)

All sources for gene: RSPH4A were removed

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: RSPH4A was added gene: RSPH4A was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory Mode of inheritance for gene: RSPH4A was set to Unknown Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11 (612649)