1. Panels
  2. Multiple Tumours
  3. TMEM127
STRs in panel
Prev Next
Regions in panel
Prev Next

Multiple Tumours

Gene: TMEM127

Green List (high evidence)
TMEM127 (transmembrane protein 127)
EnsemblGeneIds (GRCh38): ENSG00000135956
EnsemblGeneIds (GRCh37): ENSG00000135956
OMIM: 613403, Gene2Phenotype
TMEM127 is in 7 panels

1 review

Ellen McDonagh (Genomics England Curator)

Information from TruSight panel: Pathogenic Mutations are Inactivating.
Created: 5 Feb 2016, 11:47 a.m.
Created: 5 Feb 2016, 11:47 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • TruSight Cancer Panel (Illumina)
Phenotypes
  • Pheochromocytoma
  • Multiple endocrine tumours
  • Neuro-endocrine Tumours- PCC and PGL
OMIM
613403
Clinvar variants
Variants in TMEM127
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Mar 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM127 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM127 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)

5 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMEM127 was created by ellenmcdonagh