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Red cell disorders

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 5 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

5 unrelated individuals; bi-allelic (missense and deletion) variants; multiple mouse model

All individuals displayed early-onset hypochromic, microcytic anaemia, with massive iron overload and normal to slightly increased ferritinemia and absence of stainable bone marrow iron stores. Other features include mild liver function abnormalities.
Created: 9 Sep 2021, 5:15 a.m. | Last Modified: 9 Sep 2021, 5:15 a.m.
Panel Version: 0.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100

Publications

Created: 9 Sep 2021, 5:15 a.m.
Last Modified: 9 Sep 2021, 5:15 a.m.
Panel version: 0.81

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
  • Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100
OMIM
600523
Clinvar variants
Variants in SLC11A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc11a2 has been classified as Green List (High Evidence).

9 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC11A2 were changed from 206100 Anemia, hypochromic microcytic, with iron overload 1; Anemia, hypochromic microcytic, with iron overload 1, 206100 to Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100

9 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC11A2 were set to 16160008; 16439678; 15459009

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1; Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2 Publications for gene SLC11A2 were updated from 15459009; 16439678; 16160008 to 16160008; 16439678; 15459009

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC11A2 was added gene: SLC11A2 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: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC11A2 were set to 15459009; 16439678; 16160008 Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic, with iron overload 1, 206100; 206100 Anemia, hypochromic microcytic, with iron overload 1