1. Panels
  2. Rare multisystem ciliopathy disorders
  3. RSPH1
Genes in panel
Prev Next
STRs in panel
Prev Next

Rare multisystem ciliopathy disorders

Gene: RSPH1

Red List (low evidence)
RSPH1 (radial spoke head 1 homolog)
EnsemblGeneIds (GRCh38): ENSG00000160188
EnsemblGeneIds (GRCh37): ENSG00000160188
OMIM: 609314, Gene2Phenotype
RSPH1 is in 7 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Primary ciliary dyskinesia is not included in this panel
Created: 23 Jan 2017, 4:03 p.m.
Created: 23 Jan 2017, 4:03 p.m.

Panel version: 0.430

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 24, 615481
OMIM
609314
Clinvar variants
Variants in RSPH1
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

RSPH1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RSPH1 was created by ellenmcdonagh

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RSPH1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list