TMEM237

transmembrane protein 237
OMIM: 614423, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Red TMEM237 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red TMEM237 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

No list TMEM237 in Limb disorders


Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly

    No list TMEM237 in Ductal plate malformation


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Joubert syndrome 14 (614424)

    Red TMEM237 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.1

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Red TMEM237 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.82

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert
    • Expert Review Red
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Red TMEM237 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.34

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review
    Phenotypes
    • Joubert syndrome

    Red TMEM237 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.22

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Red TMEM237 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

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

    Green TMEM237 in Unexplained paediatric onset end-stage renal disease


    Version 1.1
    Signed off v.1.0 on 4 Dec 2019

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • Joubert syndrome 14 614424

    Green TMEM237 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME 14

    Green TMEM237 in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME 14 614424

    Green TMEM237 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 14, 614424
    • JOUBERT SYNDROME 14

    Green TMEM237 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.6
    Signed off v.2.1 on 19 Nov 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders

    Green TMEM237 in Structural eye disease


    Version 1.2
    Signed off v.1.0 on 19 Nov 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Joubert syndrome
    • Joubert syndrome 14, 614424

    Green TMEM237 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.124

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome
    • Joubert syndrome with oculorenal defect
    • Joubert syndrome 14

    Green TMEM237 in Ophthalmological ciliopathies


    Version 1.2
    Signed off v.1.0 on 12 Dec 2019

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Expert Review Green
    • Expert list
    • Other
    Phenotypes
    • Joubert syndrome
    • Joubert syndrome with oculorenal defect
    • Joubert syndrome 14

    Green TMEM237 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.2
    Signed off v.1.0 on 11 Dec 2019

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome
    • Joubert syndrome with oculorenal defect
    • Joubert syndrome 14

    Green TMEM237 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.1
    Signed off v.1.0 on 3 Sep 2019

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Expert Review Green
    • Expert list
    • Other
    Phenotypes
    • Joubert syndrome
    • Joubert syndrome with oculorenal defect
    • Joubert syndrome 14

    Red TMEM237 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.1
    Signed off v.1.0 on 12 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 14
    • Joubert syndrome
    • Joubert syndrome with oculorenal defect

    Green TMEM237 in Kidneyome_SuperPanel_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.2

    review Unknown
    Sources
    • KidGen_CilioNephronop v38.1.0
    • Expert Review Green