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  3. TFR2
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Cholestasis

Gene: TFR2

Red List (low evidence)
TFR2 (transferrin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000106327
EnsemblGeneIds (GRCh37): ENSG00000106327
OMIM: 604720, Gene2Phenotype
TFR2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Multiple families reported but cirrhosis rather than cholestasis.
Created: 20 Jul 2020, 10:12 a.m. | Last Modified: 9 Aug 2020, 11:06 a.m.
Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemochromatosis, type 3 (MIM#604250)

Publications

Created: 20 Jul 2020, 10:12 a.m.
Last Modified: 9 Aug 2020, 11:06 a.m.
Panel version: 0.166

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemochromatosis, type 3 (MIM#604250)
OMIM
604720
Clinvar variants
Variants in TFR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tfr2 has been classified as Red List (Low Evidence).

20 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tfr2 has been classified as Green List (High Evidence).

20 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TFR2 were changed from to Haemochromatosis, type 3 (MIM#604250)

20 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TFR2 were set to

20 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TFR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TFR2 was added gene: TFR2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TFR2 was set to Unknown