TMEM237

transmembrane protein 237
OMIM: 614423, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red TMEM237 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.5

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red TMEM237 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

No list TMEM237 in Limb disorders


Version 1.7

review Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly

No list TMEM237 in Ductal plate malformation


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Joubert syndrome 14 (614424)

Red TMEM237 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.46

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

Red TMEM237 in End-stage renal disease - childhood onset

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.65

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

Red TMEM237 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.34

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

Red TMEM237 in GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2


Version 0.6

review Not set
Sources
  • Expert Review Red
  • London North GLH

Red TMEM237 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.19

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Red TMEM237 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.165

review Not set
Sources
  • Emory Genetics Laboratory

Red TMEM237 in Renal and urinary tract disorders


Version 1.13

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Red TMEM237 in Unexplained paediatric onset end-stage renal disease


Version 0.17

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Green TMEM237 in Fetal anomalies


Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 14

Green TMEM237 in DDG2P


Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 14 614424

Green TMEM237 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.881

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 14, 614424
  • JOUBERT SYNDROME 14

Green TMEM237 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Eye Disorders

Green TMEM237 in Structural eye disease


Version 0.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 14, 614424

Green TMEM237 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14