Iron metabolism disorders

Gene: STEAP3

Amber List (moderate evidence)

STEAP3 (STEAP3 metalloreductase)
EnsemblGeneIds (GRCh38): ENSG00000115107
EnsemblGeneIds (GRCh37): ENSG00000115107
OMIM: 609671, Gene2Phenotype
STEAP3 is in 2 panels

3 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

I don't know

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).
Created: 29 May 2019, 1:59 p.m.
Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Created: 28 May 2019, 2:08 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STEAP3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615234 ?Anemia, hypochromic microcytic, with iron overload 2; PMID(s): 22031863
Created: 5 Feb 2019, 5:51 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
March 2019 Additional comments
A single family with 3 affected individuals, presented with high iron overload and severe hypochromic anaemia The STEAP3 gene encodes a ferrireductase involved in the acquisition of iron.
This gene can be classed as Amber
Created: 5 Feb 2019, 5:50 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Anemia, hypochromic microcytic, with iron overload 2 OMIM:615234
  • severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014094
OMIM
609671
Clinvar variants
Variants in STEAP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: STEAP3 were changed from 615234 ?Anemia, hypochromic microcytic, with iron overload 2 to ?Anemia, hypochromic microcytic, with iron overload 2 OMIM:615234; severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014094

29 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: steap3 has been classified as Amber List (Moderate Evidence).

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STEAP3.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STEAP3. Mode of inheritance for gene STEAP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 615234 ?Anemia, hypochromic microcytic, with iron overload 2 for gene: STEAP3 Publications for gene STEAP3 were changed from to 22031863 Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: STEAP3 was added gene: STEAP3 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: STEAP3 was set to