RSPH4A

radial spoke head 4 homolog A
OMIM: 612647, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red RSPH4A in Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.27

review Unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Bronchiectasis
  • Reduced exercise tolerance
  • chronic wet cough
  • recurrent respiratory infections
  • nasal symptoms
  • rhinorrhea
  • rhinitis
  • nasal blockage
  • sinusitis
  • glue ear
  • otitis media
  • hearing problems
  • deafness
  • Bronchiectasis
  • low weight
  • short stature

Red RSPH4A in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.29

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease

Red RSPH4A in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.18

review Not set
Sources
  • Emory Genetics Laboratory

Red RSPH4A in Ductal plate malformation


Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Ciliary dyskinesia, primary, 11 (612649)

Green RSPH4A in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.40

review 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, 11, 612649

Red RSPH4A in Laterality disorders and isomerism


Version 1.51
Latest signed off version: v1.19 (15 Oct 2020)

review Not set
Sources
  • Expert Review Red
  • NHS GMS

Green RSPH4A in Respiratory ciliopathies including non-CF bronchiectasis


Version 1.58
Latest signed off version: v1.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • sinusitis
  • chronic wet cough
  • nasal symptoms
  • rhinorrhea
  • recurrent respiratory infections
  • Primary Ciliary Dyskinesia
  • rhinitis
  • Reduced exercise tolerance
  • otitis media
  • nasal blockage
  • Bronchiectasis
  • short stature
  • deafness
  • glue ear
  • low weight
  • hearing problems
  • Ciliary dyskinesia, primary, 11, 612649

Red RSPH4A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.211
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green RSPH4A in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    Phenotypes
    • Ciliary dyskinesia, primary 612649

    Red RSPH4A in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.160

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Ciliary dyskinesia, primary, 11, 612649

    Green RSPH4A in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ciliary dyskinesia, primary, 11, 612649