TMEM127

transmembrane protein 127
OMIM: 613403, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TMEM127 in Mendeliome


Version 2.588

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687

Red TMEM127 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.2

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pheochromocytoma, susceptibility to}, MIM# 171300

Green TMEM127 in Additional findings_Adult


Level 2: Screening
Version 3.1

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • {Pheochromocytoma, susceptibility to} 171300

Red TMEM127 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.7

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687
Tags
  • TRAIL study

Green TMEM127 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Pheochromocytoma, susceptibility to} 171300

Green TMEM127 in Paraganglioma_phaeochromocytoma


Level 2: Cancer Predisposition
Version 2.2

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Paraganglioma, MONDO:0000448
  • Pheochromocytoma, MONDO:0008233
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687