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  2. Inherited phaeochromocytoma and paraganglioma
  3. TMEM127
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Inherited phaeochromocytoma and paraganglioma

Gene: TMEM127

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

3 reviews

Katie Snape (South London GMC)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Rare and late onset
Created: 16 Oct 2015, 2:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 16 Oct 2015, 2:13 p.m.

Panel version: 0

Treena Cranston (Oxford)

Green List (high evidence)

UKGTN approved
Created: 30 Sep 2015, 12:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PCC; PGL

Publications

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

Created: 30 Sep 2015, 12:13 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Pheochromocytoma, susceptibility to}, 171300
OMIM
613403
Clinvar variants
Variants in TMEM127
Penetrance
Complete
Panels with this gene

History Filter Activity

6 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).

6 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM127 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

TMEM127 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TMEM127 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TMEM127 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen