Primary ciliary disorders

Gene: RSPH9

Green List (high evidence)

RSPH9 (radial spoke head 9 homolog)
EnsemblGeneIds (GRCh38): ENSG00000172426
EnsemblGeneIds (GRCh37): ENSG00000172426
OMIM: 612648, Gene2Phenotype
RSPH9 is in 11 panels

3 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 12, 612650

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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Reviewed with team while reviewing non-CF Bronchiectasis
Created: 10 May 2016, 8:43 a.m.

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, 12

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 12, 612650
OMIM
612648
Clinvar variants
Variants in RSPH9
Penetrance
Complete
Panels with this gene

History Filter Activity

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: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RSPH9 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RSPH9 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RSPH9 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RSPH9 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

16 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RSPH9 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RSPH9 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RSPH9 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory