1. Panels
  2. Inherited phaeochromocytoma and paraganglioma excluding NF1
  3. TMEM127
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Inherited phaeochromocytoma and paraganglioma excluding NF1

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

Ivone Leong (Genomics England Curator)

Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 11 Mar 2019, 1:23 p.m.
Created: 11 Mar 2019, 1:23 p.m.

Panel version: 0.5

Katie Snape (South London GMC)

Green List (high evidence)

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

Panel version: Imported from Inherited phaeochromocytoma and paraganglioma 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: Imported from Inherited phaeochromocytoma and paraganglioma 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: Imported from Inherited phaeochromocytoma and paraganglioma panel version 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Pheochromocytoma, susceptibility to}, 171300
OMIM
613403
Clinvar variants
Variants in TMEM127
Penetrance
None
Panels with this gene

History Filter Activity

11 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tmem127 has been classified as Green List (High Evidence).

11 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TMEM127 was added gene: TMEM127 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to}, 171300