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  2. Primary ciliary disorders
  3. RSPH1
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Primary ciliary disorders

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

3 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 24, 615481

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Caroline Wright (Genomics England Curator)

Comment on list classification: 2 expert reviewers agree and current diagnostic
Created: 10 May 2016, 9:05 a.m.
Created: 10 May 2016, 9:05 a.m.

Panel version: 0.12

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

UK mutations reported
Created: 8 Dec 2015, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 24

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2015, 4:25 p.m.

Panel version: 0

Details

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

History Filter Activity

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for RSPH1 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RSPH1 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RSPH1 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN