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Ductal plate malformation
Gene: RSPH9

RSPH9 (radial spoke head 9 homolog)
EnsemblGeneIds (GRCh38): ENSG00000172426
EnsemblGeneIds (GRCh37): ENSG00000172426
OMIM: 612648, Gene2Phenotype
RSPH9 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
UKGTN
Emory Genetics Laboratory

Phenotypes

Ciliary dyskinesia, primary, 12 (612650)

OMIM

Clinvar variants

Variants in RSPH9

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 RSPH9. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

9 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene RSPH9 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 RSPH9. Source UKGTN was added to RSPH9. 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: RSPH9 were removed

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: RSPH9 was added gene: RSPH9 was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory Mode of inheritance for gene: RSPH9 was set to Unknown Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12 (612650)