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  3. TMEM127
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Additional findings_Adult

Gene: TMEM127

Green List (high 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)

Green List (high evidence)

Included in ACMG V3.0 SF list as penetrance met threshold to include with other PGL/PCC genes.
Sources: Expert list
Created: 26 May 2021, 7:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Pheochromocytoma, susceptibility to} 171300

Publications

Created: 26 May 2021, 7:40 a.m.

Panel version: 0.125

Details

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

History Filter Activity

26 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 May 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM127 was added gene: TMEM127 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM127 were set to 34012068 Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to} 171300 Review for gene: TMEM127 was set to GREEN