1. Genes and Genomic Entities
  2. TMEM67

TMEM67

transmembrane protein 67
OMIM: 609884, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Red TMEM67 in Familial Neural Tube Defects


Version 1.11

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 1.47

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 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Green TMEM67 in Limb disorders


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Gastrohepatology
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 1.31

    		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


    Level 2: Gastrohepatology
    Version 1.32
    Latest signed off version: v1.26 (22 Mar 2023)

    		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


    Level 2: Ophthalmology
    Version 2.9
    Latest signed off version: v2.0 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • {Bardet-Biedl syndrome 14, modifier of}, 615991
    Green TMEM67 in Tubulointerstitial kidney disease


    Level 2: Renal
    Version 3.15
    Latest signed off version: v3.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  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 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  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 1.124

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • 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 1.51

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • COACH syndrome, 216360
    • Joubert syndrome 6
    Red TMEM67 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red TMEM67 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    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 Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Green TMEM67 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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 1.180

    		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


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    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 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  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, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		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