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  3. TMPRSS6
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Metal Metabolism Disorders

Gene: TMPRSS6

Green List (high evidence)
TMPRSS6 (transmembrane protease, serine 6)
EnsemblGeneIds (GRCh38): ENSG00000187045
EnsemblGeneIds (GRCh37): ENSG00000187045
OMIM: 609862, Gene2Phenotype
TMPRSS6 is in 3 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

More than 10 individuals reported; bi-allelic (missense, nonsense, splice, del and frameshift) variants; Mouse model

Common clinical features include congenital hypochromic microcytic anaemia, low corpuscular erythrocyte volume, low transferrin saturation, Iron malabsorption, and abnormal iron utilisation.
Created: 7 Sep 2021, 5:24 a.m. | Last Modified: 7 Sep 2021, 5:24 a.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Iron-refractory iron deficiency anaemia MIM# 206200; Iron malabsorption; hypochromic microcytic anaemia

Publications

Created: 7 Sep 2021, 5:24 a.m.
Last Modified: 7 Sep 2021, 5:24 a.m.
Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • IRIDA
  • 206200 Iron-refractory iron deficiency anemia
  • 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
OMIM
609862
Clinvar variants
Variants in TMPRSS6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMPRSS6 was added gene: TMPRSS6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMPRSS6 were set to 19357398; 18408718 Phenotypes for gene: TMPRSS6 were set to IRIDA; 206200 Iron-refractory iron deficiency anemia; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA