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  2. Cancer Predisposition_Paediatric
  3. TMEM127
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Cancer Predisposition_Paediatric

Gene: TMEM127

Red List (low evidence)
TMEM127 (transmembrane protein 127)
EnsemblGeneIds (GRCh38): ENSG00000135956
EnsemblGeneIds (GRCh37): ENSG00000135956
OMIM: 613403, Gene2Phenotype
TMEM127 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Average age of onset is in 40s.
Created: 1 Aug 2020, 8:15 a.m. | Last Modified: 1 Aug 2020, 8:15 a.m.
Panel Version: 0.64

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Pheochromocytoma, susceptibility to}, MIM# 171300

Created: 1 Aug 2020, 8:15 a.m.
Last Modified: 1 Aug 2020, 8:15 a.m.
Panel version: 0.64

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pheochromocytoma, susceptibility to}, MIM# 171300
OMIM
613403
Clinvar variants
Variants in TMEM127
Penetrance
None
Panels with this gene

History Filter Activity

1 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem127 has been classified as Red List (Low Evidence).

1 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300

1 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem127 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM127 was added gene: TMEM127 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM127 was set to Unknown