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Severe Paediatric Disorders

Gene: TENM3

Green List (high evidence)

TENM3 (teneurin transmembrane protein 3)
EnsemblGeneIds (GRCh38): ENSG00000218336
EnsemblGeneIds (GRCh37): ENSG00000218336
OMIM: 610083, Gene2Phenotype
TENM3 is in 6 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: TENM3; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Microphthalmia, isolated, with coloboma 9, 615145 (3) | Microphthalmia, syndromic 15, 615145 (3); Mode of inheritance: 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
  • Microphthalmia, syndromic 15, OMIM:615145
  • ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
  • Microphthalmia, isolated, with coloboma 9, MONDO:0014059
OMIM
610083
Clinvar variants
Variants in TENM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TENM3 were changed from ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 to Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma