TMEM138

transmembrane protein 138
OMIM: 614459, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
Red TMEM138 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review Not set
Sources
  • Emory Genetics Laboratory
No list TMEM138 in Limb disorders


Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 TMEM138 in Ductal plate malformation


    Version 1.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Joubert syndrome 16 (614465)
    Tags
    • curated_removed
    Red TMEM138 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 4.24
    Latest signed off version: v4.0 (22 Mar 2023)

    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 TMEM138 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.118

    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 TMEM138 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.47

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review
    Phenotypes
    • Joubert syndrome
    Red TMEM138 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.42

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red TMEM138 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory
    Green TMEM138 in Unexplained young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    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 16 614465
    Green TMEM138 in Fetal anomalies


    Version 3.154
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 16 614465
    Red TMEM138 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Joubert syndrome
    • Joubert syndrome 16, 614465
    Green TMEM138 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.170

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome with oculorenal defect
    • Joubert syndrome 16
    Green TMEM138 in Ophthalmological ciliopathies


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    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 with oculorenal defect
    • Joubert syndrome 16
    Green TMEM138 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.18
    Latest signed off version: v3.0 (22 Mar 2023)

    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 with oculorenal defect
    • Joubert syndrome 16
    Green TMEM138 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    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 with oculorenal defect
    • Joubert syndrome 16
    Red TMEM138 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 16
    • Joubert syndrome with oculorenal defect
    Green TMEM138 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 16, 614465