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  3. SLC11A2
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Non-Fanconi anaemia

Gene: SLC11A2

Green List (high evidence)
SLC11A2 (solute carrier family 11 member 2)
EnsemblGeneIds (GRCh38): ENSG00000110911
EnsemblGeneIds (GRCh37): ENSG00000110911
OMIM: 600523, Gene2Phenotype
SLC11A2 is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 4th May 2017.
Created: 4 May 2017, 1:49 p.m.
Comment on list classification: Updated rating from Amber to Green: >3 unrelated cases of SLC11A2 (DMT1) variants in patients with microcytic anemia. Already rated green on related 'Cytopaenias and congenital anaemias' panel.
Created: 4 May 2017, 1:49 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM.
Created: 4 May 2017, 1:46 p.m.
Created: 4 May 2017, 1:46 p.m.

Panel version: 0.316

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypochromic microcytic anaemia

Publications

Created: 26 Jan 2016, 4:44 p.m.

Panel version: 0.228

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypochromic Microcytic Anemia with Iron Overload
  • Anemia, hypochromic microcytic, with iron overload 1, 206100
  • Microcytic anemia and hepatic iron overload
OMIM
600523
Clinvar variants
Variants in SLC11A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SLC11A2 was changed to BIALLELIC, autosomal or pseudoautosomal

4 May 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SLC11A2 were set to Hypochromic Microcytic Anemia with Iron Overload; Anemia, hypochromic microcytic, with iron overload 1, 206100; Microcytic anemia and hepatic iron overload

4 May 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SLC11A2 were set to 15459009; 16160008; 16439678

4 May 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SLC11A2 were set to Hypochromic Microcytic Anemia with Iron Overload; Anemia, hypochromic microcytic, with iron overload 1, 206100

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC11A2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC11A2 was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC11A2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC11A2 was added to Non-Fanconi anaemiapanel. Source: UKGTN

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC11A2 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC11A2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC11A2 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services