Cytopenias and congenital anaemias
Gene: SLC11A2EnsemblGeneIds (GRCh38): ENSG00000110911
EnsemblGeneIds (GRCh37): ENSG00000110911
OMIM: 600523, Gene2Phenotype
SLC11A2 is in 3 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Three families noted.Created: 28 Feb 2017, 2:07 p.m.
Three families all with homozygous / compound het missense or in-frame deletions only.Created: 20 Feb 2017, 12:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anemia, hypochromic microcytic, with iron overload 1 206100
Publications
Mode of pathogenicity
Other
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcytic anemia; hypochromic microcytic anemia with iron overload
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Anemia, hypochromic microcytic, with iron overload 1 206100
- OMIM
- 600523
- Clinvar variants
- Variants in SLC11A2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SLC11A2 were set to Anemia, hypochromic microcytic, with iron overload 1 206100
Set publications
Helen Brittain (Genomics England Curator)Publications for SLC11A2 were set to 16160008; 15459009; 16439678
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Louise Daugherty (Genomics England Curator)SLC11A2 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)SLC11A2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services