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Metal Metabolism Disorders v0.45 KCNJ10 Bryony Thompson gene: KCNJ10 was added
gene: KCNJ10 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ10 were set to 19289823, 21849804, 11466414
Phenotypes for gene: KCNJ10 were set to EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780; Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 SLC12A3 Bryony Thompson gene: SLC12A3 was added
gene: SLC12A3 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 34604137, 35170241
Phenotypes for gene: SLC12A3 were set to Disorders of magnesium metabolism; Gitelman syndrome MONDO:0009904
Metal Metabolism Disorders v0.45 CNNM2 Bryony Thompson gene: CNNM2 was added
gene: CNNM2 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 34604137, 35170241
Phenotypes for gene: CNNM2 were set to renal hypomagnesemia 6 MONDO:0013480; Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 CLDN19 Bryony Thompson gene: CLDN19 was added
gene: CLDN19 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 17033971, 22422540, 27530400
Phenotypes for gene: CLDN19 were set to Disorders of magnesium metabolism; renal hypomagnesemia 5 with ocular involvement MONDO:0009548
Metal Metabolism Disorders v0.45 CLDN16 Bryony Thompson gene: CLDN16 was added
gene: CLDN16 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 26426912, 16501001, 10878661
Phenotypes for gene: CLDN16 were set to Disorders of magnesium metabolism; renal hypomagnesemia 3 MONDO:0009550
Metal Metabolism Disorders v0.45 CLDN10 Bryony Thompson gene: CLDN10 was added
gene: CLDN10 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN10 were set to 28686597
Phenotypes for gene: CLDN10 were set to Disorders of magnesium metabolism; HELIX syndrome MONDO:0060564
Metal Metabolism Disorders v0.45 FXYD2 Bryony Thompson gene: FXYD2 was added
gene: FXYD2 was added to Metal Metabolism Disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FXYD2 were set to 17980699, 12763862, 18448590, 11062458, 25765846, 27014088
Phenotypes for gene: FXYD2 were set to Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 TRPM6 Bryony Thompson gene: TRPM6 was added
gene: TRPM6 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to 23942199
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 SEPSECS Bryony Thompson gene: SEPSECS was added
gene: SEPSECS was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 20920667, 25044680, 31748115, 29464431
Phenotypes for gene: SEPSECS were set to pontocerebellar hypoplasia type 2D MONDO:0013438; Other disorders of trace element metabolism
Metal Metabolism Disorders v0.45 SECISBP2 Bryony Thompson gene: SECISBP2 was added
gene: SECISBP2 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 16228000, 19602558, 21084748, 22247018
Phenotypes for gene: SECISBP2 were set to thyroid hormone metabolism, abnormal 1 MONDO:0800046; Other disorders of trace element metabolism
Metal Metabolism Disorders v0.45 SLC30A9 Bryony Thompson gene: SLC30A9 was added
gene: SLC30A9 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A9 were set to 37041080
Phenotypes for gene: SLC30A9 were set to Birk-Landau-Perez syndrome (MIM#617595); Disorders of zinc metabolism
Metal Metabolism Disorders v0.45 SLC39A13 Bryony Thompson gene: SLC39A13 was added
gene: SLC39A13 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A13 were set to 18985159, 18513683
Phenotypes for gene: SLC39A13 were set to Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873; Disorders of zinc metabolism
Metal Metabolism Disorders v0.45 SLC30A2 Bryony Thompson gene: SLC30A2 was added
gene: SLC30A2 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC30A2 were set to 17065149, 22733820, 32278324, 30450693, 28665435
Phenotypes for gene: SLC30A2 were set to Zinc deficiency, transient neonatal , MIM#608118; Disorders of zinc metabolism
Metal Metabolism Disorders v0.45 SLC39A4 Bryony Thompson gene: SLC39A4 was added
gene: SLC39A4 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 19370757
Phenotypes for gene: SLC39A4 were set to acrodermatitis enteropathica MONDO:0008713; Disorders of zinc metabolism
Metal Metabolism Disorders v0.45 SLC39A8 Bryony Thompson gene: SLC39A8 was added
gene: SLC39A8 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978, 26637979
Phenotypes for gene: SLC39A8 were set to SLC39A8-CDG MONDO:0014746; Other disorders of trace element metabolism
Metal Metabolism Disorders v0.45 SLC39A14 Bryony Thompson gene: SLC39A14 was added
gene: SLC39A14 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142, 29685658
Phenotypes for gene: SLC39A14 were set to hypermanganesemia with dystonia 2 MONDO:0014864; Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 SLC30A10 Bryony Thompson gene: SLC30A10 was added
gene: SLC30A10 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341972, 22341971, 29193034
Phenotypes for gene: SLC30A10 were set to hypermanganesemia syndrome MONDO:0013208; Disorders of magnesium metabolism
Metal Metabolism Disorders v0.45 TFRC Bryony Thompson gene: TFRC was added
gene: TFRC was added to Metal Metabolism Disorders. Sources: Expert Review Amber
Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFRC were set to 26642240
Phenotypes for gene: TFRC were set to Disorders of iron metabolism; TFRC-related combined immunodeficiency MONDO:0014760
Metal Metabolism Disorders v0.45 SLC33A1 Bryony Thompson gene: SLC33A1 was added
gene: SLC33A1 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC33A1 were set to 31194315
Phenotypes for gene: SLC33A1 were set to Disorders of copper metabolism; Huppke-Brendel syndrome MONDO:0013772
Metal Metabolism Disorders v0.45 AP1S1 Bryony Thompson gene: AP1S1 was added
gene: AP1S1 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 31399000
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome MONDO:0012251; Disorders of copper metabolism
Metal Metabolism Disorders v0.45 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 20170900, 33137485, 31969342, 31558336
Phenotypes for gene: ATP7A were set to Disorders of copper metabolism; Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)
Metal Metabolism Disorders v0.45 MOCOS Bryony Thompson gene: MOCOS was added
gene: MOCOS was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCOS were set to 25370766, 17368066, 34356852
Phenotypes for gene: MOCOS were set to Disorders of molybdenum cofactor metabolism; xanthinuria type II MONDO:0011346
Metal Metabolism Disorders v0.45 GPHN Bryony Thompson gene: GPHN was added
gene: GPHN was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 27604308, 11095995, 22040219, 9812897
Phenotypes for gene: GPHN were set to Disorders of molybdenum cofactor metabolism; sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212
Metal Metabolism Disorders v0.45 MOCS2 Bryony Thompson gene: MOCS2 was added
gene: MOCS2 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS2 were set to 27604308, 10053004
Phenotypes for gene: MOCS2 were set to sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644; Disorders of molybdenum cofactor metabolism
Metal Metabolism Disorders v0.45 MOCS1 Bryony Thompson gene: MOCS1 was added
gene: MOCS1 was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS1 were set to 27604308, 9731530
Phenotypes for gene: MOCS1 were set to Disorders of molybdenum cofactor metabolism; sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643
Metal Metabolism Disorders v0.44 Bryony Thompson Panel name changed from Iron metabolism disorders to Metal Metabolism Disorders
HPO terms changed from Abnormality of iron homeostasis, HP:0011031 to Abnormality of iron homeostasis, HP:0011031;Abnormal blood transition element cation concentration, HP:0011030
List of related panels changed from Abnormality of iron homeostasis; HP:0011031 to Abnormality of iron homeostasis; HP:0011031;Abnormal blood transition element cation concentration; HP:0011030
Metal Metabolism Disorders v0.43 Bryony Thompson removed gene:PLA2G6 from the panel
Metal Metabolism Disorders v0.42 Bryony Thompson removed gene:PANK2 from the panel
Metal Metabolism Disorders v0.41 Bryony Thompson removed gene:FA2H from the panel
Metal Metabolism Disorders v0.40 Bryony Thompson removed gene:C19orf12 from the panel
Metal Metabolism Disorders v0.39 Bryony Thompson removed gene:ATP13A2 from the panel
Metal Metabolism Disorders v0.38 Bryony Thompson removed gene:WDR45 from the panel
Metal Metabolism Disorders v0.37 STAB1 Zornitza Stark Phenotypes for gene: STAB1 were changed from Iron metabolism metabolism, MONDO:0002279, STAB1-related; Hyperferritinaemia without iron overload to Hyperferritinemia, MIM# 620729
Metal Metabolism Disorders v0.36 STAB1 Zornitza Stark reviewed gene: STAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperferritinemia, MIM# 620729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.36 CYBRD1 Zornitza Stark Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related
Metal Metabolism Disorders v0.35 CYBRD1 Zornitza Stark edited their review of gene: CYBRD1: Changed phenotypes: Iron metabolism disease, MONDO:0002279, CYBRD1-related
Metal Metabolism Disorders v0.35 STAB1 Zornitza Stark Marked gene: STAB1 as ready
Metal Metabolism Disorders v0.35 STAB1 Zornitza Stark Gene: stab1 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.35 STAB1 Zornitza Stark Phenotypes for gene: STAB1 were changed from Iron metabolism metabolism, MONDO:0002279, STAB1; Hyperferritinaemia without iron overload to Iron metabolism metabolism, MONDO:0002279, STAB1-related; Hyperferritinaemia without iron overload
Metal Metabolism Disorders v0.34 STAB1 Zornitza Stark Phenotypes for gene: STAB1 were changed from Hyperferritinaemia without iron overload to Iron metabolism metabolism, MONDO:0002279, STAB1; Hyperferritinaemia without iron overload
Metal Metabolism Disorders v0.33 STAB1 Zornitza Stark Classified gene: STAB1 as Green List (high evidence)
Metal Metabolism Disorders v0.33 STAB1 Zornitza Stark Gene: stab1 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.32 STAB1 Chern Lim gene: STAB1 was added
gene: STAB1 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: STAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAB1 were set to 37490907; 28052375
Phenotypes for gene: STAB1 were set to Hyperferritinaemia without iron overload
Review for gene: STAB1 was set to GREEN
gene: STAB1 was marked as current diagnostic
Added comment: PMID: 37490907
- Biallelic variants identified in 10 individuals from 7 families with unexplained hyperferritinaemia without iron overload. All of them were in good health and had no dysmorphologies, psycho-motor development abnormalities, hearing or vision disorders, or other pathologies.
- Homozygous/compound heterozygous variants: missense, frameshift, stopgain, inframe del of 3 AAs, one synonymous.
- Samples from three of the patients from two families showed no immunoreactivity with anti-stabilin-1 compared to control liver where high signal was detected in the liver sinusoids (immunohistochemistry analysis).
- Patients’ peripheral monocytes and monocyte-derived macrophages showed very little expression of stabilin-1 on CD14+ monocytes and macrophages compared to control subjects (flow cytometry analysis).
- These families have also been published in PMID: 28052375.
Sources: Literature
Metal Metabolism Disorders v0.32 Zornitza Stark HPO terms changed from to Abnormality of iron homeostasis, HP:0011031
List of related panels changed from to Abnormality of iron homeostasis; HP:0011031
Metal Metabolism Disorders v0.31 BMP6 Zornitza Stark Phenotypes for gene: BMP6 were changed from Iron overload, mild to moderate to {Iron overload, susceptibility to} 620121
Metal Metabolism Disorders v0.30 BMP6 Zornitza Stark edited their review of gene: BMP6: Changed phenotypes: {Iron overload, susceptibility to} 620121
Metal Metabolism Disorders v0.30 PIGA Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Metal Metabolism Disorders v0.30 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Metal Metabolism Disorders v0.29 PIGA Alison Yeung Marked gene: PIGA as ready
Metal Metabolism Disorders v0.29 PIGA Alison Yeung Gene: piga has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.29 PIGA Alison Yeung Classified gene: PIGA as Green List (high evidence)
Metal Metabolism Disorders v0.29 PIGA Alison Yeung Gene: piga has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.28 PIGA Alison Yeung gene: PIGA was added
gene: PIGA was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: PIGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIGA were set to 34875027
Phenotypes for gene: PIGA were set to Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072
Review for gene: PIGA was set to GREEN
Added comment: Heterozygous variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.
Sources: Literature
Metal Metabolism Disorders v0.27 STEAP3 Zornitza Stark Marked gene: STEAP3 as ready
Metal Metabolism Disorders v0.27 STEAP3 Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.27 STEAP3 Zornitza Stark Phenotypes for gene: STEAP3 were changed from 615234 ?Anemia, hypochromic microcytic, with iron overload 2 to Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234
Metal Metabolism Disorders v0.26 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to 22031863
Metal Metabolism Disorders v0.25 STEAP3 Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.24 STEAP3 Zornitza Stark Classified gene: STEAP3 as Red List (low evidence)
Metal Metabolism Disorders v0.24 STEAP3 Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.23 STEAP3 Zornitza Stark reviewed gene: STEAP3: Rating: RED; Mode of pathogenicity: None; Publications: 22031863, 25515317, 26675350; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.23 SLC11A2 Danielle Ariti reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21871825, 15459009; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.23 TF Danielle Ariti reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 11110675, 3472216; Phenotypes: Atransferrinaemia MIM# 209300, iron overload, hypochromic anaemia, low serum transferrin, Hemosiderosis of the heart and/or liver, Congestive heart failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.23 TMPRSS6 Danielle Ariti reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18408718, 8596229, 18596229, 19592582; Phenotypes: Iron-refractory iron deficiency anaemia MIM# 206200, Iron malabsorption, hypochromic microcytic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.23 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Metal Metabolism Disorders v0.22 FTL Bryony Thompson Marked gene: FTL as ready
Metal Metabolism Disorders v0.22 FTL Bryony Thompson Gene: ftl has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.22 FTL Bryony Thompson reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493028; Phenotypes: Hyperferritinemia-cataract syndrome MIM#600886, L-ferritin deficiency, dominant and recessive MIM#615604, Neurodegeneration with brain iron accumulation 3 MIM#606159; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.22 ATP13A2 Bryony Thompson Marked gene: ATP13A2 as ready
Metal Metabolism Disorders v0.22 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.22 ATP13A2 Bryony Thompson Classified gene: ATP13A2 as Green List (high evidence)
Metal Metabolism Disorders v0.22 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.21 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 27604308; 16964263
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693; Disorder of iron metabolism
Review for gene: ATP13A2 was set to GREEN
gene: ATP13A2 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). ATP13A2 deficiency causes a neurodegeneration with brain iron accumulation disorder, which is considered a disorder of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.20 WDR45 Bryony Thompson Marked gene: WDR45 as ready
Metal Metabolism Disorders v0.20 WDR45 Bryony Thompson Gene: wdr45 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.20 WDR45 Bryony Thompson Classified gene: WDR45 as Green List (high evidence)
Metal Metabolism Disorders v0.20 WDR45 Bryony Thompson Gene: wdr45 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.19 WDR45 Bryony Thompson gene: WDR45 was added
gene: WDR45 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 27604308; 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 MIM#300894; Beta-propeller protein-associated neurodegeneration; Disorder of iron metabolism
Review for gene: WDR45 was set to GREEN
gene: WDR45 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). NBIA is considered a disorder of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.18 FA2H Bryony Thompson Marked gene: FA2H as ready
Metal Metabolism Disorders v0.18 FA2H Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.18 FA2H Bryony Thompson Classified gene: FA2H as Green List (high evidence)
Metal Metabolism Disorders v0.18 FA2H Bryony Thompson Gene: fa2h has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.17 FA2H Bryony Thompson gene: FA2H was added
gene: FA2H was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 27604308; 18463364; 19068277; 20104589; 20853438
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive MIM#612319; Fatty acid hydroxylase-associated neurodegeneration; Disorder of iron metabolism
Review for gene: FA2H was set to GREEN
gene: FA2H was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). FA2H deficiency can cause neurodegeneration with brain iron accumulation, which is considered a disorder of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.16 C19orf12 Bryony Thompson Marked gene: C19orf12 as ready
Metal Metabolism Disorders v0.16 C19orf12 Bryony Thompson Gene: c19orf12 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.16 C19orf12 Bryony Thompson Classified gene: C19orf12 as Green List (high evidence)
Metal Metabolism Disorders v0.16 C19orf12 Bryony Thompson Gene: c19orf12 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.15 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 27604308; 21981780
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4 MIM#614298; Disorder of iron metabolism
Review for gene: C19orf12 was set to GREEN
gene: C19orf12 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). NBIA4 is considered a disorder of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.14 PLA2G6 Bryony Thompson Marked gene: PLA2G6 as ready
Metal Metabolism Disorders v0.14 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.14 PLA2G6 Bryony Thompson Classified gene: PLA2G6 as Green List (high evidence)
Metal Metabolism Disorders v0.14 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.13 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 27604308; 16783378
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B MIM#610217; Disorder of iron metabolism
Review for gene: PLA2G6 was set to GREEN
gene: PLA2G6 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PLA2G6 deficiency is considered an inborn error of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.12 PANK2 Bryony Thompson Marked gene: PANK2 as ready
Metal Metabolism Disorders v0.12 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.12 PANK2 Bryony Thompson Classified gene: PANK2 as Green List (high evidence)
Metal Metabolism Disorders v0.12 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.11 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 27604308; 11479594
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 MIM#234200; Disorder of iron metabolism
Review for gene: PANK2 was set to GREEN
gene: PANK2 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PANK2 deficiency is considered an inborn error of iron metabolism.
Sources: Literature
Metal Metabolism Disorders v0.10 Zornitza Stark Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Marked gene: HEPH as ready
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Gene: heph has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Phenotypes for gene: HEPH were changed from to Iron metabolism defect
Metal Metabolism Disorders v0.8 HEPH Zornitza Stark Publications for gene: HEPH were set to
Metal Metabolism Disorders v0.7 HEPH Zornitza Stark Classified gene: HEPH as Red List (low evidence)
Metal Metabolism Disorders v0.7 HEPH Zornitza Stark Gene: heph has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.6 HEPH Zornitza Stark reviewed gene: HEPH: Rating: RED; Mode of pathogenicity: None; Publications: 30182051, 30060949; Phenotypes: Iron metabolism defect; Mode of inheritance: None
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Marked gene: FTH1 as ready
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Tag 5'UTR tag was added to gene: FTH1.
Metal Metabolism Disorders v0.6 FTH1 Zornitza Stark Phenotypes for gene: FTH1 were changed from 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5 to Hemochromatosis, type 5, MIM# 615517
Metal Metabolism Disorders v0.5 FTH1 Zornitza Stark Classified gene: FTH1 as Red List (low evidence)
Metal Metabolism Disorders v0.5 FTH1 Zornitza Stark Gene: fth1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.4 FTH1 Zornitza Stark reviewed gene: FTH1: Rating: RED; Mode of pathogenicity: None; Publications: 11389486; Phenotypes: Hemochromatosis, type 5, MIM# 615517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Marked gene: CYBRD1 as ready
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.4 CYBRD1 Zornitza Stark Phenotypes for gene: CYBRD1 were changed from Iron overload; NA IRON OVERLOAD; N/A Primary iron overload to Iron overload
Metal Metabolism Disorders v0.3 CYBRD1 Zornitza Stark Mode of inheritance for gene: CYBRD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.2 CYBRD1 Zornitza Stark Classified gene: CYBRD1 as Red List (low evidence)
Metal Metabolism Disorders v0.2 CYBRD1 Zornitza Stark Gene: cybrd1 has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.1 CYBRD1 Zornitza Stark reviewed gene: CYBRD1: Rating: RED; Mode of pathogenicity: None; Publications: 15338274; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Marked gene: BMP6 as ready
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Gene: bmp6 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.1 BMP6 Zornitza Stark Phenotypes for gene: BMP6 were changed from 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD to Iron overload, mild to moderate
Metal Metabolism Disorders v0.0 BMP6 Zornitza Stark reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26582087, 32464486; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Metal Metabolism Disorders v0.0 STEAP3 Zornitza Stark gene: STEAP3 was added
gene: STEAP3 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: STEAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STEAP3 were set to 22031863
Phenotypes for gene: STEAP3 were set to 615234 ?Anemia, hypochromic microcytic, with iron overload 2
Metal Metabolism Disorders v0.0 HEPH Zornitza Stark gene: HEPH was added
gene: HEPH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: HEPH was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Metal Metabolism Disorders v0.0 FTH1 Zornitza Stark gene: FTH1 was added
gene: FTH1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTH1 were set to 11389486
Phenotypes for gene: FTH1 were set to 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5
Metal Metabolism Disorders v0.0 FECH Zornitza Stark gene: FECH was added
gene: FECH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FECH were set to 20857522; 26387792; 28614581
Phenotypes for gene: FECH were set to EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Metal Metabolism Disorders v0.0 TMPRSS6 Zornitza Stark gene: TMPRSS6 was added
gene: TMPRSS6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS6 were set to 19357398; 18408718
Phenotypes for gene: TMPRSS6 were set to IRIDA; 206200 Iron-refractory iron deficiency anemia; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Metal Metabolism Disorders v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 11313241; 10802645
Phenotypes for gene: TFR2 were set to 604250 Hemochromatosis, type 3; HFE3; 604250 HEMOCHROMATOSIS, TYPE 3
Metal Metabolism Disorders v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TF were set to 15466165; 11110675
Phenotypes for gene: TF were set to 209300 Atransferrinemia; 209300 Atransferrinemia, Hypoferritinaemia
Metal Metabolism Disorders v0.0 SLC40A1 Zornitza Stark gene: SLC40A1 was added
gene: SLC40A1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC40A1 were set to 16351644; 11431687
Phenotypes for gene: SLC40A1 were set to 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606069 Hemochromatosis, type 4
Metal Metabolism Disorders v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 21393332; 19412178; 24323989
Phenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Metal Metabolism Disorders v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC11A2 were set to 16439678; 15459009; 16160008
Phenotypes for gene: SLC11A2 were set to AHMIO1; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia; 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; DMT1-related anemia
Metal Metabolism Disorders v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE2 were set to 14982873
Phenotypes for gene: HFE2 were set to HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A
Metal Metabolism Disorders v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 18199861
Phenotypes for gene: HFE were set to 235200 Hemochromatosis; 235200 HEMOCHROMATOSIS, TYPE 1; 235200HEMOCHROMATOSIS, TYPE 1; HFE1
Metal Metabolism Disorders v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAMP were set to 12915468; 15198949; 12469120
Phenotypes for gene: HAMP were set to 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B
Metal Metabolism Disorders v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRX5 were set to 24003969; 30401706; 25342667; 30098397
Phenotypes for gene: GLRX5 were set to 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Metal Metabolism Disorders v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27265538; 27816428; 20575041
Phenotypes for gene: GBA were set to 230800 Gaucher disease, type I; 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III
Metal Metabolism Disorders v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTL were set to 23940258; 18413574; 23421845; 19176363
Phenotypes for gene: FTL were set to 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
Metal Metabolism Disorders v0.0 CYBRD1 Zornitza Stark gene: CYBRD1 was added
gene: CYBRD1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: CYBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYBRD1 were set to 15338274; 27884173
Phenotypes for gene: CYBRD1 were set to Iron overload; NA IRON OVERLOAD; N/A Primary iron overload
Metal Metabolism Disorders v0.0 CP Zornitza Stark gene: CP was added
gene: CP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CP were set to 15338274
Phenotypes for gene: CP were set to 604290 ACERULOPLASMINEMIA; 604290 Hemosiderosis, systemic, due to aceruloplasminemia
Metal Metabolism Disorders v0.0 BMP6 Zornitza Stark gene: BMP6 was added
gene: BMP6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP6 were set to 26582087
Phenotypes for gene: BMP6 were set to 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD
Metal Metabolism Disorders v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 24002824; 18210110; 27982432; 28433102; 24266916
Phenotypes for gene: ATP7B were set to 277900 WILSON DISEASE
Metal Metabolism Disorders v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ALAS2 were set to 24003969; 30401706; 10029606; 30098397
Phenotypes for gene: ALAS2 were set to 300752 Protoporphyria, erythropoietic, X-linked; Sideroblastic anaemia - increased serum ferritin; 300751 Anemia, sideroblastic, 1
Metal Metabolism Disorders v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ABCB7 were set to 10196363; 30401706; 29787825
Phenotypes for gene: ABCB7 were set to 301310 Anemia, sideroblastic, with ataxia
Metal Metabolism Disorders v0.0 Zornitza Stark Added panel Iron metabolism disorders