TMEM67

Red TMEM67 in Familial Neural Tube Defects

Version 1.10

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

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

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:

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)

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

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)

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)

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:

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:

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:

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

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

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:

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:

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)

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:

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:

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)

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)

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

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:

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:

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:

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)

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

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