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Severe Paediatric Disorders

Gene: TMEM107

Green List (high evidence)

TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TMEM107; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Joubert syndrome 29, 617562 (3) | Meckel syndrome 13, 617562 (3) | Orofaciodigital syndrome XVI, 617563 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
616183
Clinvar variants
Variants in TMEM107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3