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  2. Multiple endocrine tumours
  3. TMEM127
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Multiple endocrine 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

4 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Katie Snape (South London GMC)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Ellen Thomas (Genomics England Curator)

Comment on list classification: 3 reviewers plus current diagnostic test.
Created: 2 Feb 2016, 2:30 p.m.
Created: 2 Feb 2016, 2:30 p.m.

Panel version: 0.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
  • Paragangliomas 1, with or without deafness, 168000
  • Pheochromocytoma, 171300
  • Carcinoid tumors, intestinal, 114900
  • Merkel cell carcinoma, somatic
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 3, 615106
OMIM
613403
Clinvar variants
Variants in TMEM127
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for TMEM127 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TMEM127 was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory