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  2. Congenital anaemias
  3. TMPRSS6
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Congenital anaemias

Gene: TMPRSS6

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Iron-Refractory Iron Deficiency Anemia
  • Iron‐refractoryirondeficiencyanemia,206200
  • Iron refractoryirondeficiencyanemia,206200
OMIM
609862
Clinvar variants
Variants in TMPRSS6
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS6 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS6 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TMPRSS6 was added to Congenital anaemiaspanel. Source: UKGTN

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

TMPRSS6 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TMPRSS6 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TMPRSS6 was added to Congenital anaemiaspanel. Sources: UKGTN