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  2. Metal Metabolism Disorders

Metal Metabolism Disorders (Version 0.45)

Level 2: Metabolic disorders

Relevant disorders: Abnormality of iron homeostasis, HP:0011031;Abnormal blood transition element cation concentration, HP:0011030
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  
This panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.
Panel Activity

5 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Danielle Ariti (University of Melbourne)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

49 Entities

11 reviewed, 42 green

List Entity Reviews Mode of inheritance Details
49 Entitiess
Green List (high evidence)
ABCB7
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 301310 Anemia, sideroblastic, with ataxia
Tags
Green List (high evidence)
ALAS2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 300752 Protoporphyria, erythropoietic, X-linked
  • Sideroblastic anaemia - increased serum ferritin
  • 300751 Anemia, sideroblastic, 1
Tags
Green List (high evidence)
AP1S1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MEDNIK syndrome MONDO:0012251
  • Disorders of copper metabolism
Tags
Green List (high evidence)
ATP7A
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Disorders of copper metabolism
  • Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)
Tags
Green List (high evidence)
ATP7B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 277900 WILSON DISEASE
Tags
Green List (high evidence)
BMP6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • {Iron overload, susceptibility to} 620121
Tags
Green List (high evidence)
CLDN10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of magnesium metabolism
  • HELIX syndrome MONDO:0060564
Tags
Green List (high evidence)
CLDN16
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of magnesium metabolism
  • renal hypomagnesemia 3 MONDO:0009550
Tags
Green List (high evidence)
CLDN19
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of magnesium metabolism
  • renal hypomagnesemia 5 with ocular involvement MONDO:0009548
Tags
Green List (high evidence)
CNNM2
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • renal hypomagnesemia 6 MONDO:0013480
  • Disorders of magnesium metabolism
Tags
Green List (high evidence)
CP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 604290 ACERULOPLASMINEMIA
  • 604290 Hemosiderosis, systemic, due to aceruloplasminemia
Tags
Green List (high evidence)
FTL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
  • LFTD
  • NBIA3
  • 615604 L-FERRITIN DEFICIENCY
  • HRFTC
  • 606159 Neurodegeneration with brain iron accumulation 3
  • 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
  • 600886 Hyperferritinemia-cataract syndrome
  • 615604 L-ferritin deficiency, dominant and recessive
Tags
Green List (high evidence)
GBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 230800 Gaucher disease, type I
  • 230900 Gaucher disease, type II
  • 231005 Gaucher disease, type IIIC
  • 231000 Gaucher disease, type III
Tags
Green List (high evidence)
GLRX5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 616860 Anemia, sideroblastic, 3, pyridoxine-refractory
  • Sideroblastic anaemia - increased serum ferritin
Tags
Green List (high evidence)
GPHN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of molybdenum cofactor metabolism
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212
Tags
Green List (high evidence)
HAMP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 613313 Hemochromatosis, type 2B
  • 613313 HEMOCHROMATOSIS, TYPE 2B
  • HFE2B
Tags
Green List (high evidence)
HFE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 235200 Hemochromatosis
  • 235200 HEMOCHROMATOSIS, TYPE 1
  • 235200HEMOCHROMATOSIS, TYPE 1
  • HFE1
Tags
Green List (high evidence)
HFE2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • HFE2A
  • 602390 HEMOCHROMATOSIS, TYPE 2A
  • 602390 Hemochromatosis, type 2A
Tags
Green List (high evidence)
KCNJ10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780
  • Disorders of magnesium metabolism
Tags
Green List (high evidence)
MOCOS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of molybdenum cofactor metabolism
  • xanthinuria type II MONDO:0011346
Tags
Green List (high evidence)
MOCS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of molybdenum cofactor metabolism
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643
Tags
Green List (high evidence)
MOCS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644
  • Disorders of molybdenum cofactor metabolism
Tags
Green List (high evidence)
PIGA
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072
Tags
Green List (high evidence)
SECISBP2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • thyroid hormone metabolism, abnormal 1 MONDO:0800046
  • Other disorders of trace element metabolism
Tags
Green List (high evidence)
SEPSECS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • pontocerebellar hypoplasia type 2D MONDO:0013438
  • Other disorders of trace element metabolism
Tags
Green List (high evidence)
SLC11A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
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
Tags
Green List (high evidence)
SLC12A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of magnesium metabolism
  • Gitelman syndrome MONDO:0009904
Tags
Green List (high evidence)
SLC25A38
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 205950 Anemia, sideroblastic, 2, pyridoxine-refractory
  • Sideroblastic anaemia - increased serum ferritin
Tags
Green List (high evidence)
SLC30A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hypermanganesemia syndrome MONDO:0013208
  • Disorders of magnesium metabolism
Tags
Green List (high evidence)
SLC30A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Zinc deficiency, transient neonatal , MIM#608118
  • Disorders of zinc metabolism
Tags
Green List (high evidence)
SLC30A9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Birk-Landau-Perez syndrome (MIM#617595)
  • Disorders of zinc metabolism
Tags
Green List (high evidence)
SLC33A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of copper metabolism
  • Huppke-Brendel syndrome MONDO:0013772
Tags
Green List (high evidence)
SLC39A13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873
  • Disorders of zinc metabolism
Tags
Green List (high evidence)
SLC39A14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hypermanganesemia with dystonia 2 MONDO:0014864
  • Disorders of magnesium metabolism
Tags
Green List (high evidence)
SLC39A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • acrodermatitis enteropathica MONDO:0008713
  • Disorders of zinc metabolism
Tags
Green List (high evidence)
SLC39A8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SLC39A8-CDG MONDO:0014746
  • Other disorders of trace element metabolism
Tags
Green List (high evidence)
SLC40A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 606069 HEMOCHROMATOSIS, TYPE 4
  • HFE4
  • 606069 Hemochromatosis, type 4
Tags
Green List (high evidence)
STAB1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperferritinemia, MIM# 620729
Tags
Green List (high evidence)
TF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 209300 Atransferrinemia
  • 209300 Atransferrinemia, Hypoferritinaemia
Tags
Green List (high evidence)
TFR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • 604250 Hemochromatosis, type 3
  • HFE3
  • 604250 HEMOCHROMATOSIS, TYPE 3
Tags
Green List (high evidence)
TMPRSS6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • IRIDA
  • 206200 Iron-refractory iron deficiency anemia
  • 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Tags
Green List (high evidence)
TRPM6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism
Tags
Amber List (moderate evidence)
FECH
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • EPP1
  • 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Tags
Amber List (moderate evidence)
FXYD2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism
Tags
Amber List (moderate evidence)
TFRC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of iron metabolism
  • TFRC-related combined immunodeficiency MONDO:0014760
Tags
Red List (low evidence)
CYBRD1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Iron metabolism disease, MONDO:0002279, CYBRD1-related
Tags
Red List (low evidence)
FTH1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Hemochromatosis, type 5, MIM# 615517
Tags
  • 5'UTR
Red List (low evidence)
HEPH
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Iron metabolism defect
Tags
Red List (low evidence)
STEAP3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234
Tags

Downloads

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  • Green list (high evidence)
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