Description
This panel is used for clinical indication 'R96 Iron metabolism disorders - NOT common HFE mutations' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R96 Iron metabolism disorders - NOT common HFE mutations'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/515/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (03/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

8 reviewers

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Steve Keeney (Central Manchester Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Mandy nesbitt (Healthcare Professional)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Frances Smith (King's College Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

26 Entities

26 reviewed, 18 green

List Entity Reviews Mode of inheritance Details
26 Entitiess
Green Green List (high evidence)
ABCB7
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 301310 Anemia, sideroblastic, with ataxia
Tags
Green Green List (high evidence)
ALAS2
4 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Protoporphyria, erythropoietic, X-linked OMIM:300752
  • Anemia, sideroblastic, 1 OMIM:300751
  • X-linked erythropoietic protoporphyria MONDO:0010420
  • X-linked sideroblastic anemia 1 MONDO:0020721
Tags
Green Green List (high evidence)
ATP7B
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 277900 WILSON DISEASE
Tags
Green Green List (high evidence)
BMP6
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Hemochromatosis type 5 ORPHA:447792
Tags
Green Green List (high evidence)
CP
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • aceruloplasminemia MONDO:0011426
  • Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290
Tags
Green Green List (high evidence)
CYBRD1
8 reviews
5 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • hereditary hemochromatosis MONDO:0006507
Tags
Green Green List (high evidence)
FTL
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Hyperferritinemia-cataract syndrome OIMM:600886
  • L-ferritin deficiency, dominant and recessive OMIM:615604
  • Neurodegeneration with brain iron accumulation 3 OMIM:606159
Tags
  • Q2_21_MOI
Green Green List (high evidence)
GBA
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Gaucher disease, type II OMIM:230900
  • Gaucher disease, type IIIC OMIM:231005
  • Gaucher disease, type III OMIM:231000
  • Gaucher disease, type I OMIM:230800
Tags
Green Green List (high evidence)
GLRX5
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860
Tags
Green Green List (high evidence)
HAMP
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Hemochromatosis, type 2B OMIM:613313
Tags
Green Green List (high evidence)
HFE
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 235200 HEMOCHROMATOSIS, TYPE 1
  • HFE1
  • 235200 Hemochromatosis
  • 235200HEMOCHROMATOSIS, TYPE 1
Tags
Green Green List (high evidence)
HFE2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Hemochromatosis, type 2A OMIM:602390
Tags
  • new-gene-name
Green Green List (high evidence)
SLC11A2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100
  • microcytic anemia with liver iron overload MONDO:0008787
Tags
Green Green List (high evidence)
SLC25A38
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950
  • sideroblastic anemia 2 MONDO:0008785
Tags
Green Green List (high evidence)
SLC40A1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Hemochromatosis, type 4 OMIM:606069
  • hemochromatosis type 4 MONDO:0011631
Tags
Green Green List (high evidence)
TF
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Atransferrinemia OMIM:209300
  • atransferrinemia MONDO:0008846
Tags
Green Green List (high evidence)
TFR2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Hemochromatosis, type 3 OMIM:604250
  • hemochromatosis type 3 MONDO:0011417
Tags
Green Green List (high evidence)
TMPRSS6
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 206200 Iron-refractory iron deficiency anemia
  • IRIDA
  • 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Tags
Amber Amber List (moderate evidence)
FECH
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Protoporphyria, erythropoietic, 1 OMIM:177000
  • protoporphyria, erythropoietic, 1 MONDO:0008319
Tags
Amber Amber List (moderate evidence)
FTH1
7 reviews
3 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • ?Hemochromatosis, type 5 OMIM:615517
  • hemochromatosis type 5 MONDO:0014225
Tags
Amber Amber List (moderate evidence)
HEPH
6 reviews
3 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Tags
Amber Amber List (moderate evidence)
STEAP3
3 reviews
1 green
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
Tags
Red Red List (low evidence)
ACVR1
6 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Fibrodysplasia ossificans progressiva OMIM:135100
Tags
Red Red List (low evidence)
CDAN1
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
  • Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Tags
Red Red List (low evidence)
SEC23B
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Dyserythropoietic anemia, congenital, type II OMIM:224100
  • congenital dyserythropoietic anemia type 2 MONDO:0009134
Tags
Red Red List (low evidence)
SERPINA1
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Emphysema due to AAT deficiency OMIM:613490
  • alpha 1-antitrypsin deficiency MONDO:0013282
Tags

Major version comments

Downloads

Download lists

Download Version