Red cell disorders
Gene: TMPRSS6EnsemblGeneIds (GRCh38): ENSG00000187045
EnsemblGeneIds (GRCh37): ENSG00000187045
OMIM: 609862, Gene2Phenotype
TMPRSS6 is in 3 panels
1 review
Danielle Ariti (University of Melbourne)
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, 5:20 a.m. | Last Modified: 7 Sep 2021, 5:20 a.m.
Panel Version: 0.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Iron-refractory iron deficiency anaemia MIM# 206200; Iron malabsorption; hypochromic microcytic anaemia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- Wessex and West Midlands GLH
- North West GLH
- Phenotypes
-
- Iron-refractory iron deficiency anaemia MIM# 206200
- Iron malabsorption
- hypochromic microcytic anaemia
- OMIM
- 609862
- Clinvar variants
- Variants in TMPRSS6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmprss6 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TMPRSS6 were changed from Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia; 206200 Iron refractoryirondeficiencyanemia to Iron-refractory iron deficiency anaemia MIM# 206200; Iron malabsorption; hypochromic microcytic anaemia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TMPRSS6 were set to 18408718
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia; 206200 Iron refractoryirondeficiencyanemia for gene: TMPRSS6
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 Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMPRSS6 were set to 18408718 Phenotypes for gene: TMPRSS6 were set to 206200 Iron refractoryirondeficiencyanemia; Iron-Refractory Iron Deficiency Anemia; Iron refractoryirondeficiencyanemia,206200