TMEM231

transmembrane protein 231
OMIM: 614949, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Red TMEM231 in Familial Neural Tube Defects


Version 1.10

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome

Red TMEM231 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.13

review Not set
Sources
  • Emory Genetics Laboratory

No list TMEM231 in Limb disorders


Version 2.39
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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

    No list TMEM231 in Ductal plate malformation


    Version 1.16

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 20 (614970)
    • Meckel syndrome 11 (615397)
    Tags
    • curated_removed

    Red TMEM231 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.26 (8 Apr 2021)

    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 TMEM231 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.92

    Component of the following Super Panels:

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

    Red TMEM231 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert Review
    Phenotypes
    • Joubert syndrome
    • Meckel-Gruber syndrome

    Red TMEM231 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.29

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Green TMEM231 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.85
    Latest signed off version: v2.84 (16 Dec 2021)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Joubert syndrome 20 614970
    • Meckel syndrome 11 615397

    Green TMEM231 in Unexplained paediatric onset end-stage renal disease


    Version 1.15
    Latest signed off version: v1.2 (4 Mar 2020)

    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 20 614970
    • Meckel syndrome 11 615397

    Green TMEM231 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 20 614970
    • Meckel syndrome 11 615397

    Red TMEM231 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 20, 614970 (includes developmental delay)

    Amber TMEM231 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Joubert syndrome 20, OMIM:614970
    Tags
    • for-review

    Red TMEM231 in Structural eye disease


    Version 1.52
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Joubert syndrome
    • Joubert syndrome 20, 614970
    • Meckel-Gruber syndrome
    • Meckel syndrome 11, 615397

    Green TMEM231 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.139

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Orphanet
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Joubert syndrome 20, 614970
    • Meckel syndrome 11, 615397
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome
    • Joubert syndrome 20

    Green TMEM231 in Ophthalmological ciliopathies


    Version 1.17
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Other
    • Emory Genetics Laboratory
    Phenotypes
    • Meckel syndrome
    • Joubert syndrome 20
    • Joubert syndrome with oculorenal defect
    • Joubert syndrome 20, 614970
    • Meckel syndrome 11, 615397

    Green TMEM231 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.15
    Latest signed off version: v1.5 (4 Mar 2020)

    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
    • Meckel syndrome
    • Joubert syndrome 20
    • Joubert syndrome with oculorenal defect
    • Joubert syndrome 20, 614970
    • Meckel syndrome 11, 615397

    Green TMEM231 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.41
    Latest signed off version: v1.40 (6 Apr 2021)

    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
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Other
    • Emory Genetics Laboratory
    Phenotypes
    • Meckel syndrome
    • Joubert syndrome 20
    • Joubert syndrome with oculorenal defect
    • Joubert syndrome 20, 614970
    • Meckel syndrome 11, 615397

    Red TMEM231 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 20
    • Meckel syndrome 11, 615397
    • Joubert syndrome 20, 614970
    • Meckel syndrome
    • Joubert syndrome with oculorenal defect

    Green TMEM231 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 20, 614970
    • Meckel syndrome 11, 615397