TMEM107

transmembrane protein 107
OMIM: 616183, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber TMEM107 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Meckel-Gruber syndrome Orofaciodigital syndrome
No list TMEM107 in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes ?Joubert syndrome 29 (617562) Meckel syndrome 13 (617562) Tags curated_removed
Green TMEM107 in Unexplained young onset end-stage renal disease Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Joubert syndrome 29 617562 Meckel syndrome 13 617562 Orofaciodigital syndrome XVI 617563
Green TMEM107 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Joubert syndrome 29, OMIM:617562 Meckel syndrome 13, OMIM:617562 Meckel syndrome 13, MONDO:0033044 Orofaciodigital syndrome XVI, OMIM:617563 Orofaciodigital syndrome 16, MONDO:0033045
Green TMEM107 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.172	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes ?Joubert syndrome 29 617562 Meckel syndrome 13 617562 Orofaciodigital syndrome XVI 617563
Green TMEM107 in Ophthalmological ciliopathies Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Meckel syndrome 13, 617562 ?Joubert syndrome 29, 617562 Orofaciodigital syndrome XVI, 617563
Green TMEM107 in Neurological ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 4.1 Latest signed off version: v4.0 (1 May 2024) 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 Meckel syndrome 13 617562 ?Joubert syndrome 29 617562 Orofaciodigital syndrome XVI 617563
Green TMEM107 in Renal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.6 Latest signed off version: v3.5 (1 May 2024) 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 Expert Review Green Expert list Phenotypes Meckel syndrome 13 617562 ?Joubert syndrome 29 617562 Orofaciodigital syndrome XVI 617563
Red TMEM107 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Orofaciodigital syndrome XVI 617563 ?Joubert syndrome 29 617562 Meckel syndrome 13 617562
Green TMEM107 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Orofaciodigital syndrome XVI, 617563 ?Joubert syndrome 29, 617562 Meckel syndrome 13, 617562