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 is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

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.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/515/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (23/09/2019).
This panel will continue to be curated. 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 for the GMS panels.

6 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Mandy nesbitt (Healthcare Professional)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • 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
  • 300752 Protoporphyria, erythropoietic, X-linked
  • 300751 Anemia, sideroblastic, 1
  • Sideroblastic anaemia - increased serum ferritin
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
  • NA IRON OVERLOAD
  • 112266 Mild to moderate iron overload
  • Iron overload
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
  • 604290 Hemosiderosis, systemic, due to aceruloplasminemia
  • 604290 ACERULOPLASMINEMIA
Tags
Green Green List (high evidence)
CYBRD1
6 reviews
5 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
  • NA IRON OVERLOAD
  • N/A Primary iron overload
  • Iron overload
Tags
Green Green List (high evidence)
FTL
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
  • NBIA3
  • 615604 L-FERRITIN DEFICIENCY
  • LFTD
  • 600886 Hyperferritinemia-cataract syndrome
  • HRFTC
  • 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
  • 615604 L-ferritin deficiency, dominant and recessive
  • 606159 Neurodegeneration with brain iron accumulation 3
  • 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
Tags
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
  • 230900 Gaucher disease, type II
  • 231005 Gaucher disease, type IIIC
  • 231000 Gaucher disease, type III
  • 230800 Gaucher disease, type I
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
  • 616860 Anemia, sideroblastic, 3, pyridoxine-refractory
  • Sideroblastic anaemia - increased serum ferritin
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
  • 613313 Hemochromatosis, type 2B
  • 613313 HEMOCHROMATOSIS, TYPE 2B
  • HFE2B
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
  • HFE2A
  • 602390 HEMOCHROMATOSIS, TYPE 2A
  • 602390 Hemochromatosis, type 2A
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
  • 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
  • AHMIO1
  • DMT1-related anemia
  • 206100 Anemia, hypochromic microcytic, with iron overload 1
  • AHMIO1 DMT1-related anemia
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
  • 205950 Anemia, sideroblastic, 2, pyridoxine-refractory
  • Sideroblastic anaemia - increased serum ferritin
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
  • HFE4
  • 606069 Hemochromatosis, type 4
  • 606069 HEMOCHROMATOSIS, TYPE 4
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
  • 209300 Atransferrinemia, Hypoferritinaemia
  • 209300 Atransferrinemia
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
  • 604250 HEMOCHROMATOSIS, TYPE 3
  • 604250 Hemochromatosis, type 3
  • HFE3
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
  • EPP1
  • 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Tags
Amber Amber List (moderate evidence)
FTH1
6 reviews
3 green 1 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
  • 615517 ?Hemochromatosis, type 5
  • HFE5
  • 615517 HEMOCHROMATOSIS, TYPE 5
Tags
Amber Amber List (moderate evidence)
HEPH
5 reviews
3 green
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
  • 615234 ?Anemia, hypochromic microcytic, with iron overload 2
Tags
Red Red List (low evidence)
ACVR1
5 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
  • new type of IRIDA
  • IRIDA
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
  • 224120 Dyserythropoietic anemia, congenital, type Ia
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
  • 224100 Dyserythropoietic anemia, congenital, type II
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
  • A1ATD
  • 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY
Tags

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