Anaemias and red cell disorders
Gene: TMPRSS6

TMPRSS6 (transmembrane protease, serine 6)
EnsemblGeneIds (GRCh38): ENSG00000187045
EnsemblGeneIds (GRCh37): ENSG00000187045
OMIM: 609862, Gene2Phenotype
TMPRSS6 is in 6 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Microcytic anemia

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

Created: 16 Jan 2017, 3:47 p.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Iron-Refractory Iron Deficiency Anemia
Iron refractoryirondeficiencyanemia,206200

OMIM

609862

Clinvar variants

Variants in TMPRSS6

Penetrance

Complete

Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS6 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 0

Created