TMEM138

transmembrane protein 138
OMIM: 614459, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red TMEM138 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	Not set	Sources Emory Genetics Laboratory
No list TMEM138 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) 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 1.31	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 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	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 1.124	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 1.51	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Phenotypes Joubert syndrome
Red TMEM138 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Red TMEM138 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Green TMEM138 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Joubert syndrome 16 614465
Red TMEM138 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 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 1.180	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 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 Expert Review Green Expert list Other Phenotypes Joubert syndrome with oculorenal defect Joubert syndrome 16
Green TMEM138 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 with oculorenal defect Joubert syndrome 16
Green TMEM138 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 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 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 Joubert syndrome 16 Joubert syndrome with oculorenal defect