Cytopenias and congenital anaemias
Gene: TMPRSS6

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: evidence for phenotype observed in more than 3 families
Created: 28 Feb 2017, 2:26 p.m.

Created: 28 Feb 2017, 2:26 p.m.

Panel version: 0.227

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: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Iron-Refractory Iron Deficiency Anemia
Iron refractoryirondeficiencyanemia,206200

OMIM

609862

Clinvar variants

Variants in TMPRSS6

Penetrance

Complete

Publications

18408718

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4