Metal Metabolism Disorders
Gene: SLC11A2EnsemblGeneIds (GRCh38): ENSG00000110911
EnsemblGeneIds (GRCh37): ENSG00000110911
OMIM: 600523, Gene2Phenotype
SLC11A2 is in 5 panels
1 review
Danielle Ariti (University of Melbourne)
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, 6:26 a.m. | Last Modified: 9 Sep 2021, 6:26 a.m.
Panel Version: 0.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS Genomic Medicine Service
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- AHMIO1
- 206100 Anemia, hypochromic microcytic, with iron overload 1
- AHMIO1 DMT1-related anemia
- 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
- DMT1-related anemia
- OMIM
- 600523
- Clinvar variants
- Variants in SLC11A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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 Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC11A2 were set to 16439678; 15459009; 16160008 Phenotypes for gene: SLC11A2 were set to AHMIO1; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia; 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; DMT1-related anemia