TMEM67

transmembrane protein 67
OMIM: 609884, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Red TMEM67 in Familial Neural Tube Defects


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome

Red TMEM67 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

review Not set
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red TMEM67 in Thoracic dystrophies

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

review Not set
Sources
  • Emory Genetics Laboratory

Green TMEM67 in Limb disorders


Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • COACH syndrome 216360
    • Joubert syndrome 6 610688
    • Meckel syndrome 3 607361
    • {Bardet-Biedl syndrome 14, modifier of} 615991
    • Polydactyly

    No list TMEM67 in Cholestasis


    Version 1.110
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • NHS GMS
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • COACH syndrome (216360)
    • {Bardet-Biedl syndrome 14, modifier of} (615991)
    • Nephronophthisis 11 (613550)
    • Meckel syndrome 3 (607361)
    • Joubert syndrome 6 (310688)
    • congenital hepatic fibrosis
    Tags
    • curated_removed

    Green TMEM67 in Ductal plate malformation


    Version 1.19

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Meckel syndrome 3 (607361)
    • Nephronophthisis 11 (613550)
    • Joubert syndrome 6 (310688)
    • {Bardet-Biedl syndrome 14, modifier of} (615991)
    • COACH syndrome (216360)
    • congenital hepatic fibrosis

    Red TMEM67 in Polycystic liver disease interim


    Version 1.23
    Latest signed off version: v1.4 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Joubert syndrome 6 (310688)
    • {Bardet-Biedl syndrome 14, modifier of} (615991)
    • Meckel syndrome 3 (607361)
    • Nephronophthisis 11 (613550)
    • congenital hepatic fibrosis
    • COACH syndrome (216360)

    Green TMEM67 in Bardet Biedl syndrome


    Version 1.13
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • {Bardet-Biedl syndrome 14, modifier of}, 615991

    Green TMEM67 in Tubulointerstitial kidney disease


    Version 1.20
    Latest signed off version: v1.3 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?RHYNS syndrome MIM 602152
    • COACH syndrome 216360 AR 3
    • {Bardet-Biedl syndrome 14, modifier of} MIM 615991
    • ?RHYNS syndrome 602152 AR 3
    • COACH syndrome, MIM 216306
    • Joubert syndrome 6, MIM 610688
    • Nephronopthisis 11 MIM 613550
    • Meckel syndrome 3, MIM 607361

    Green TMEM67 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.53
    Latest signed off version: v2.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Green TMEM67 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.113

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert
    Phenotypes
    • COACH syndrome 216360
    • Joubert syndrome 6 610688
    • Meckel syndrome 3 607361
    • Nephronophthisis 11 613550
    • {Bardet-Biedl syndrome 14, modifier of} 615991

    Red TMEM67 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.46

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • COACH syndrome, 216360
    • Joubert syndrome 6

    Red TMEM67 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.40

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Red TMEM67 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.208
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • COACH syndrome 216360
    • Meckel syndrome 3 607361
    • Joubert syndrome 6 610688
    • {Bardet-Biedl syndrome 14, modifier of} 615991

    Green TMEM67 in Unexplained paediatric onset end-stage renal disease


    Version 1.37
    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
    • Joubert syndrome 6 610688
    • Nephronophthisis 11 613550
    • Meckel syndrome 3 607361
    • Ciliopathy genes associated with cystic kidney disease
    • {Bardet-Biedl syndrome 14, modifier of} 615991
    • COACH syndrome 216360

    Green TMEM67 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME TYPE 6
    • MECKEL SYNDROME TYPE 3
    • COACH SYNDROM
    • NEPHRONOPHTHISIS TYPE 11

    Green TMEM67 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEPHRONOPHTHISIS TYPE 11 613550
    • MECKEL SYNDROME TYPE 3 607361
    • COACH SYNDROM 216360
    • JOUBERT SYNDROME TYPE 6 610688

    Green TMEM67 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550
    • COACH SYNDROME(COACHS)

    Red TMEM67 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders

    Green TMEM67 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • COACH syndrome, 216360
    • Joubert syndrome 6, 610688
    • {Bardet-Biedl syndrome 14, modifer of}, 615991
    • Meckel syndrome 3, 607361
    • COACH syndrome, 216360
    • Nephronophthisis 11, 613550

    Green TMEM67 in Rare multisystem ciliopathy disorders

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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Other
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • Meckel-Gruber syndrome
    • Joubert syndrome
    • COACH syndrome
    • nephronophthisis
    • ?Bardet-Biedl syndrome?
    • 216360
    • 607361
    • 613550
    • 610688
    • Meckel syndrome
    • Senior-Boichis syndrome
    • Nephronophthisis 11
    • Joubert syndrome 6

    Green TMEM67 in Ophthalmological ciliopathies


    Version 1.30
    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
    • Orphanet
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • Joubert syndrome
    • nephronophthisis
    • COACH syndrome
    • Joubert syndrome 6
    • ?Bardet-Biedl syndrome?
    • Senior-Boichis syndrome
    • 613550
    • 607361
    • Meckel-Gruber syndrome
    • Meckel syndrome
    • 610688
    • Nephronophthisis 11
    • 216360

    Green TMEM67 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.31
    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
    • Joubert syndrome
    • nephronophthisis
    • COACH syndrome
    • Joubert syndrome 6
    • ?Bardet-Biedl syndrome?
    • Senior-Boichis syndrome
    • 613550
    • 607361
    • Meckel-Gruber syndrome
    • Meckel syndrome
    • 610688
    • Nephronophthisis 11
    • 216360

    Green TMEM67 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.64
    Latest signed off version: v1.2 (4 Mar 2020)

    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
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • Joubert syndrome
    • nephronophthisis
    • COACH syndrome
    • Joubert syndrome 6
    • ?Bardet-Biedl syndrome?
    • Senior-Boichis syndrome
    • 613550
    • 607361
    • Meckel-Gruber syndrome
    • Meckel syndrome
    • 610688
    • Nephronophthisis 11
    • 216360

    Red TMEM67 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • 613550
    • 607361
    • Joubert syndrome
    • ?Bardet-Biedl syndrome?
    • COACH syndrome
    • 216360
    • Joubert syndrome 6
    • Meckel-Gruber syndrome
    • Meckel syndrome
    • nephronophthisis
    • Senior-Boichis syndrome
    • 610688
    • Nephronophthisis 11

    Green TMEM67 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 6, 610688
    • Meckel syndrome 3, 607361
    • Nephronophthisis 11, 613550
    • ?RHYNS syndrome, 602152
    • COACH syndrome, 216360