Activity

Filter

Cancel
Date Panel Item Activity
523 actions
Iron metabolism disorders - NOT common HFE mutations v2.4 STAB1 Achchuthan Shanmugasundram Classified gene: STAB1 as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v2.4 STAB1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of STAB1 gene to green rating in the next GMS review.
Iron metabolism disorders - NOT common HFE mutations v2.4 STAB1 Achchuthan Shanmugasundram Gene: stab1 has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v2.3 STAB1 Achchuthan Shanmugasundram changed review comment from: PMID:37490907 reported the identification of biallelic variants in STAB10 gene 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.; to: PMID:37490907 reported the identification of biallelic variants in STAB10 gene 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.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Iron metabolism disorders - NOT common HFE mutations v2.3 STAB1 Achchuthan Shanmugasundram commented on gene: STAB1: PMID:37490907 reported the identification of biallelic variants in STAB10 gene 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.
Iron metabolism disorders - NOT common HFE mutations v2.3 STAB1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: STAB1.
Iron metabolism disorders - NOT common HFE mutations v2.3 STAB1 Achchuthan Shanmugasundram reviewed gene: STAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37490907; Phenotypes: Genetic hyperferritinemia without iron overload (disorder), SNOMED:766929007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v2.3 STAB1 Edoardo Monfrini gene: STAB1 was added
gene: STAB1 was added to Iron metabolism disorders - NOT common HFE mutations. Sources: Literature
Mode of inheritance for gene: STAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAB1 were set to 37490907
Phenotypes for gene: STAB1 were set to Hyperferritinemia without iron overload
Penetrance for gene: STAB1 were set to Complete
Review for gene: STAB1 was set to GREEN
Added comment: Sources: Literature
Iron metabolism disorders - NOT common HFE mutations v2.1 Catherine Snow Panel version 2.0 has been signed off on 2023-03-22
Iron metabolism disorders - NOT common HFE mutations v2.0 Catherine Snow promoted panel to version 2.0
Iron metabolism disorders - NOT common HFE mutations v1.41 Eleanor Williams Panel name changed from Iron metabolism disorders to Iron metabolism disorders - NOT common HFE mutations
List of related panels changed from R96 to Iron metabolism disorders; R96
Iron metabolism disorders - NOT common HFE mutations v1.40 BMP6 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: BMP6.
Iron metabolism disorders - NOT common HFE mutations v1.40 BMP6 Achchuthan Shanmugasundram Phenotypes for gene: BMP6 were changed from {Iron overload, susceptibility to}, OMIM:620121; Hemochromatosis type 5 ORPHA:447792 to {Iron overload, susceptibility to}, OMIM:620121
Iron metabolism disorders - NOT common HFE mutations v1.39 BMP6 Achchuthan Shanmugasundram Phenotypes for gene: BMP6 were changed from Hemochromatosis type 5 ORPHA:447792 to {Iron overload, susceptibility to}, OMIM:620121; Hemochromatosis type 5 ORPHA:447792
Iron metabolism disorders - NOT common HFE mutations v1.38 FTL Achchuthan Shanmugasundram Tag Q2_21_MOI was removed from gene: FTL.
Iron metabolism disorders - NOT common HFE mutations v1.38 FTL Achchuthan Shanmugasundram commented on gene: FTL
Iron metabolism disorders - NOT common HFE mutations v1.37 FTL Achchuthan Shanmugasundram Mode of inheritance for gene FTL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v1.36 HFE Arina Puzriakova Phenotypes for gene: HFE were changed from 235200 HEMOCHROMATOSIS, TYPE 1; HFE1; 235200 Hemochromatosis; 235200HEMOCHROMATOSIS, TYPE 1 to Hemochromatosis, OMIM:235200
Iron metabolism disorders - NOT common HFE mutations v1.35 HEPH Arina Puzriakova commented on gene: HEPH
Iron metabolism disorders - NOT common HFE mutations v1.35 FTH1 Arina Puzriakova commented on gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v1.34 HEPH Arina Puzriakova Source Expert Review Red was added to HEPH.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v1.34 FTH1 Arina Puzriakova Source Expert Review Red was added to FTH1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v1.33 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Iron metabolism disorders - NOT common HFE mutations v1.33 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Iron metabolism disorders - NOT common HFE mutations v1.33 GBA Sarah Leigh commented on gene: GBA
Iron metabolism disorders - NOT common HFE mutations v1.33 CYBRD1 Sarah Leigh Tag gene-checked tag was added to gene: CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v1.33 BMP6 Sarah Leigh Tag gene-checked tag was added to gene: BMP6.
Iron metabolism disorders - NOT common HFE mutations v1.33 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282 to Emphysema due to AAT deficiency OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders - NOT common HFE mutations v1.32 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY P to ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders - NOT common HFE mutations v1.31 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY to ALPHA-1-ANTITRYPSIN DEFICIENCY P
Iron metabolism disorders - NOT common HFE mutations v1.30 SEC23B Sarah Leigh Phenotypes for gene: SEC23B were changed from 224100 Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II OMIM:224100; congenital dyserythropoietic anemia type 2 MONDO:0009134
Iron metabolism disorders - NOT common HFE mutations v1.29 ACVR1 Sarah Leigh Added comment: Comment on phenotypes: This phenotype does not appear to be relevant to this panel.
Iron metabolism disorders - NOT common HFE mutations v1.29 ACVR1 Sarah Leigh Phenotypes for gene: ACVR1 were changed from new type of IRIDA; IRIDA to Fibrodysplasia ossificans progressiva OMIM:135100
Iron metabolism disorders - NOT common HFE mutations v1.28 STEAP3 Sarah Leigh 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
Iron metabolism disorders - NOT common HFE mutations v1.27 HEPH Sarah Leigh Publications for gene: HEPH were set to
Iron metabolism disorders - NOT common HFE mutations v1.26 FTH1 Sarah Leigh Phenotypes for gene: FTH1 were changed from 615517 ?Hemochromatosis, type 5; HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 to ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225
Iron metabolism disorders - NOT common HFE mutations v1.25 FECH Sarah Leigh Phenotypes for gene: FECH were changed from EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 to Protoporphyria, erythropoietic, 1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Iron metabolism disorders - NOT common HFE mutations v1.24 TFR2 Sarah Leigh Phenotypes for gene: TFR2 were changed from 604250 HEMOCHROMATOSIS, TYPE 3; 604250 Hemochromatosis, type 3; HFE3 to Hemochromatosis, type 3 OMIM:604250; hemochromatosis type 3 MONDO:0011417
Iron metabolism disorders - NOT common HFE mutations v1.23 TF Sarah Leigh Phenotypes for gene: TF were changed from 209300 Atransferrinemia, Hypoferritinaemia; 209300 Atransferrinemia to Atransferrinemia OMIM:209300; atransferrinemia MONDO:0008846
Iron metabolism disorders - NOT common HFE mutations v1.22 SLC40A1 Sarah Leigh Phenotypes for gene: SLC40A1 were changed from HFE4; 606069 Hemochromatosis, type 4; 606069 HEMOCHROMATOSIS, TYPE 4 to Hemochromatosis, type 4 OMIM:606069; hemochromatosis type 4 MONDO:0011631
Iron metabolism disorders - NOT common HFE mutations v1.21 SLC25A38 Sarah Leigh Phenotypes for gene: SLC25A38 were changed from 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950; sideroblastic anemia 2 MONDO:0008785
Iron metabolism disorders - NOT common HFE mutations v1.20 SLC11A2 Sarah Leigh Phenotypes for gene: SLC11A2 were changed from Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100 to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100; microcytic anemia with liver iron overload MONDO:0008787
Iron metabolism disorders - NOT common HFE mutations v1.19 SLC11A2 Sarah Leigh Phenotypes for gene: SLC11A2 were changed from 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1; DMT1-related anemia; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100
Iron metabolism disorders - NOT common HFE mutations v1.18 HFE2 Sarah Leigh Phenotypes for gene: HFE2 were changed from HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A to Hemochromatosis, type 2A OMIM:602390
Iron metabolism disorders - NOT common HFE mutations v1.17 HAMP Sarah Leigh Phenotypes for gene: HAMP were changed from 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B to Hemochromatosis, type 2B OMIM:613313
Iron metabolism disorders - NOT common HFE mutations v1.16 GLRX5 Sarah Leigh Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860
Iron metabolism disorders - NOT common HFE mutations v1.15 GBA Sarah Leigh Phenotypes for gene: GBA were changed from 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I to Gaucher disease, type II OMIM:230900; Gaucher disease, type IIIC OMIM:231005; Gaucher disease, type III OMIM:231000; Gaucher disease, type I OMIM:230800
Iron metabolism disorders - NOT common HFE mutations v1.14 FTL Sarah Leigh edited their review of gene: FTL: Added comment: The MOI for FTL should be "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to detect biallielic variants found in L-ferritin deficiency, dominant and recessive OMIM:615604.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v1.14 FTL Sarah Leigh Tag Q2_21_MOI tag was added to gene: FTL.
Iron metabolism disorders - NOT common HFE mutations v1.14 FTL Sarah Leigh Phenotypes for gene: FTL were changed from Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 OMIM:606159
Iron metabolism disorders - NOT common HFE mutations v1.13 FTL Sarah Leigh Deleted their comment
Iron metabolism disorders - NOT common HFE mutations v1.13 FTL Sarah Leigh Phenotypes for gene: FTL were changed from 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 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159
Iron metabolism disorders - NOT common HFE mutations v1.12 FTL Sarah Leigh Added comment: Comment on phenotypes: L-ferritin deficiency, dominant and recessive OMIM:615604;Hyperferritinemia-cataract syndrome OMIM:600886;Neurodegeneration with brain iron accumulation 3 OMIM:606159
Iron metabolism disorders - NOT common HFE mutations v1.12 FTL Sarah Leigh Phenotypes for gene: FTL were changed from 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 to 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
Iron metabolism disorders - NOT common HFE mutations v1.11 CYBRD1 Sarah Leigh Added comment: Comment on phenotypes: There is no OMIM, MONDO or ORPHANET disease association to this gene. The term hereditary hemochromatosis MONDO:0006507 was chosen as it represent the general disease described in the limited literature associated with this gene.
Iron metabolism disorders - NOT common HFE mutations v1.11 CYBRD1 Sarah Leigh Phenotypes for gene: CYBRD1 were changed from hereditary hemochromatosis MONDO:0006507 to hereditary hemochromatosis MONDO:0006507
Iron metabolism disorders - NOT common HFE mutations v1.10 CYBRD1 Sarah Leigh Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload; Iron overload to hereditary hemochromatosis MONDO:0006507
Iron metabolism disorders - NOT common HFE mutations v1.9 CP Sarah Leigh Phenotypes for gene: CP were changed from 604290 Hemosiderosis, systemic, due to aceruloplasminemia; 604290 ACERULOPLASMINEMIA to aceruloplasminemia MONDO:0011426; Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290
Iron metabolism disorders - NOT common HFE mutations v1.8 BMP6 Sarah Leigh Phenotypes for gene: BMP6 were changed from NA IRON OVERLOAD; 112266 Mild to moderate iron overload; Iron overload to Hemochromatosis type 5 ORPHA:447792
Iron metabolism disorders - NOT common HFE mutations v1.7 BMP6 Sarah Leigh Publications for gene: BMP6 were set to 26582087
Iron metabolism disorders - NOT common HFE mutations v1.6 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin to Protoporphyria, erythropoietic, X-linked OMIM:300752; Anemia, sideroblastic, 1 OMIM:300751; X-linked erythropoietic protoporphyria MONDO:0010420; X-linked sideroblastic anemia 1 MONDO:0020721
Iron metabolism disorders - NOT common HFE mutations v1.5 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Iron metabolism disorders - NOT common HFE mutations v1.4 HEPH Zornitza Stark reviewed gene: HEPH: Rating: RED; Mode of pathogenicity: None; Publications: 30182051, 30060949; Phenotypes: Iron metabolism defect; Mode of inheritance: None
Iron metabolism disorders - NOT common HFE mutations v1.4 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
Iron metabolism disorders - NOT common HFE mutations v1.4 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
Iron metabolism disorders - NOT common HFE mutations v1.3 Catherine Snow Panel version has been signed off
Iron metabolism disorders - NOT common HFE mutations v1.2 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Iron metabolism disorders - NOT common HFE mutations v1.0 Louise Daugherty promoted panel to version 1.0
Iron metabolism disorders - NOT common HFE mutations v0.55 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Iron metabolism disorders - NOT common HFE mutations v0.54 Louise Daugherty List of related panels changed from to R96
Iron metabolism disorders - NOT common HFE mutations v0.53 ATP7B Louise Daugherty Classified gene: ATP7B as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.53 ATP7B Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.53 ATP7B Louise Daugherty Gene: atp7b has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.52 ABCB7 Louise Daugherty Classified gene: ABCB7 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.52 ABCB7 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.52 ABCB7 Louise Daugherty Gene: abcb7 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.51 ALAS2 Louise Daugherty Classified gene: ALAS2 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.51 ALAS2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.51 ALAS2 Louise Daugherty Gene: alas2 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.50 GLRX5 Louise Daugherty Classified gene: GLRX5 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.50 GLRX5 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.50 GLRX5 Louise Daugherty Gene: glrx5 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.49 SLC25A38 Louise Daugherty Classified gene: SLC25A38 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.49 SLC25A38 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.49 SLC25A38 Louise Daugherty Gene: slc25a38 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Classified gene: FECH as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Gene: fech has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Classified gene: SERPINA1 as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red.
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Gene: serpina1 has been classified as Red List (Low Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.46 HEPH Louise Daugherty changed review comment from: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.; to: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.

Discrepant reviews, to be discussed at July workshop to agree rating.
Iron metabolism disorders - NOT common HFE mutations v0.46 HEPH Louise Daugherty Classified gene: HEPH as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.46 HEPH Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.46 HEPH Louise Daugherty Gene: heph has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.45 SEC23B Louise Daugherty Classified gene: SEC23B as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.45 SEC23B Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red. It is Green on the rare anaemias panel
Iron metabolism disorders - NOT common HFE mutations v0.45 SEC23B Louise Daugherty Gene: sec23b has been classified as Red List (Low Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.44 FTH1 Louise Daugherty changed review comment from: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.; to: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.44 CDAN1 Louise Daugherty Classified gene: CDAN1 as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.44 CDAN1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red. YNEGLH noted that it is Green on the Rare Anaemia panel.
Iron metabolism disorders - NOT common HFE mutations v0.44 CDAN1 Louise Daugherty Gene: cdan1 has been classified as Red List (Low Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.43 CDAN1 Louise Daugherty commented on gene: CDAN1: Discrepant reviews, to be discussed at July workshop to agree rating.
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Classified gene: FTH1 as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Gene: fth1 has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.42 FTH1 Louise Daugherty commented on gene: FTH1: Discrepant reviews, to be discussed at July workshop to agree rating.
Iron metabolism disorders - NOT common HFE mutations v0.41 ALAS2 Louise Daugherty Deleted their comment
Iron metabolism disorders - NOT common HFE mutations v0.41 SLC25A38 Louise Daugherty Deleted their comment
Iron metabolism disorders - NOT common HFE mutations v0.41 STEAP3 Louise Daugherty Classified gene: STEAP3 as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.41 STEAP3 Louise Daugherty Added comment: 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).
Iron metabolism disorders - NOT common HFE mutations v0.41 STEAP3 Louise Daugherty Gene: steap3 has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.40 ACVR1 Louise Daugherty Classified gene: ACVR1 as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.40 ACVR1 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Red. 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 Red (webex 8.03.19 WWMGLH comments v1.doc). This is supported by the other GLHs in the Haematology Specialist Test Group
Iron metabolism disorders - NOT common HFE mutations v0.40 ACVR1 Louise Daugherty Gene: acvr1 has been classified as Red List (Low Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.39 ABCB7 Louise Daugherty commented on gene: ABCB7: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 ALAS2 Louise Daugherty commented on gene: ALAS2: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 GLRX5 Louise Daugherty commented on gene: GLRX5: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 SLC25A38 Louise Daugherty commented on gene: SLC25A38: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 ATP7B Louise Daugherty commented on gene: ATP7B: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 CYBRD1 Louise Daugherty commented on gene: CYBRD1: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 FECH Louise Daugherty commented on gene: FECH: 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
Iron metabolism disorders - NOT common HFE mutations v0.39 GBA Louise Daugherty commented on gene: GBA: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 HEPH Louise Daugherty commented on gene: HEPH: 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
Iron metabolism disorders - NOT common HFE mutations v0.39 SERPINA1 Louise Daugherty commented on gene: SERPINA1: 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 Red
Iron metabolism disorders - NOT common HFE mutations v0.39 ABCB7 Louise Daugherty commented on gene: ABCB7: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 ALAS2 Louise Daugherty commented on gene: ALAS2: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 GLRX5 Louise Daugherty commented on gene: GLRX5: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 SLC25A38 Louise Daugherty commented on gene: SLC25A38: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 STEAP3 Louise Daugherty commented on gene: STEAP3: 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
Iron metabolism disorders - NOT common HFE mutations v0.39 SEC23B Louise Daugherty commented on gene: SEC23B: 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 Red
Iron metabolism disorders - NOT common HFE mutations v0.39 CDAN1 Louise Daugherty commented on gene: CDAN1: 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 Red
Iron metabolism disorders - NOT common HFE mutations v0.39 FTH1 Louise Daugherty commented on gene: FTH1: 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
Iron metabolism disorders - NOT common HFE mutations v0.39 BMP6 Louise Daugherty commented on gene: BMP6: 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 Green
Iron metabolism disorders - NOT common HFE mutations v0.39 ACVR1 Louise Daugherty commented on gene: ACVR1: 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 Red
Iron metabolism disorders - NOT common HFE mutations v0.38 SEC23B Louise Daugherty Source Wessex and West Midlands GLH was added to SEC23B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.38 CDAN1 Louise Daugherty Source Wessex and West Midlands GLH was added to CDAN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.37 ABCB7 PATRICIA BIGNELL commented on gene: ABCB7: I had a discussion with Cambridge and Dr WJH Griffiths to see what he recommends for patients with iron overload; advice was to include SLC25A38, GLRX5, ALAS2 and ABCB7. We have found 8 patients with Iron overload that have a variant in the above genes.
Iron metabolism disorders - NOT common HFE mutations v0.37 ALAS2 PATRICIA BIGNELL commented on gene: ALAS2: I had a discussion with Cambridge and Dr WJH Griffiths to see what he recommends for patients with iron overload; advice was to include SLC25A38, GLRX5, ALAS2 and ABCB7. We have found 8 patients with Iron overload that have a variant in the above genes.
Iron metabolism disorders - NOT common HFE mutations v0.37 GLRX5 PATRICIA BIGNELL commented on gene: GLRX5: I had a discussion with Cambridge and Dr WJH Griffiths to see what he recommends for patients with iron overload; advice was to include SLC25A38, GLRX5, ALAS2 and ABCB7. We have found 8 patients with Iron overload that have a variant in the above genes.
Iron metabolism disorders - NOT common HFE mutations v0.37 SLC25A38 PATRICIA BIGNELL commented on gene: SLC25A38: I had a discussion with Cambridge and Dr WJH Griffiths to see what he recommends for patients with iron overload; advice was to include SLC25A38, GLRX5, ALAS2 and ABCB7. We have found 8 patients with Iron overload that have a variant in the above genes.
Iron metabolism disorders - NOT common HFE mutations v0.37 ATP7B PATRICIA BIGNELL reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 CYBRD1 PATRICIA BIGNELL reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 FECH PATRICIA BIGNELL reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 GBA PATRICIA BIGNELL reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 HEPH PATRICIA BIGNELL reviewed gene: HEPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 SERPINA1 PATRICIA BIGNELL reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 ABCB7 PATRICIA BIGNELL reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 ALAS2 PATRICIA BIGNELL reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 GLRX5 PATRICIA BIGNELL reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 SLC25A38 PATRICIA BIGNELL reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 STEAP3 PATRICIA BIGNELL reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 SEC23B PATRICIA BIGNELL reviewed gene: SEC23B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 CDAN1 PATRICIA BIGNELL reviewed gene: CDAN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 FTH1 PATRICIA BIGNELL reviewed gene: FTH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.37 BMP6 PATRICIA BIGNELL reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.37 ACVR1 PATRICIA BIGNELL reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.36 SERPINA1 Louise Daugherty Source Wessex and West Midlands GLH was added to SERPINA1.
Iron metabolism disorders - NOT common HFE mutations v0.36 SERPINA1 Louise Daugherty Source NHS GMS was added to SERPINA1.
Iron metabolism disorders - NOT common HFE mutations v0.36 SERPINA1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINA1.
Iron metabolism disorders - NOT common HFE mutations v0.36 SERPINA1 Louise Daugherty Source North West GLH was added to SERPINA1.
Iron metabolism disorders - NOT common HFE mutations v0.35 SERPINA1 Louise Daugherty commented on gene: SERPINA1: Changed gene listed on panel from SERPINC1 to SERPINA1, incorrect gene listed by North West GLH, Yorkshire and North East GLH and Wessex and the West Midlands GLH. The phenotype is 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD which matches SERPINA1. Gene changed after comments from Carl Fratter and Patrica Bignell highlighting the error.
Iron metabolism disorders - NOT common HFE mutations v0.35 SERPINA1 Louise Daugherty SERPINC1 was changed to SERPINA1
Iron metabolism disorders - NOT common HFE mutations v0.35 SERPINC1 Louise Daugherty Source North West GLH was removed from SERPINC1.
Source Yorkshire and North East GLH was removed from SERPINC1.
Source NHS GMS was removed from SERPINC1.
Source Wessex and West Midlands GLH was removed from SERPINC1.
Source Expert list was added to SERPINC1.
Iron metabolism disorders - NOT common HFE mutations v0.34 CYBRD1 Louise Daugherty Source London South GLH was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.34 ALAS2 Louise Daugherty Source London South GLH was added to ALAS2.
Iron metabolism disorders - NOT common HFE mutations v0.34 GLRX5 Louise Daugherty Source London South GLH was added to GLRX5.
Iron metabolism disorders - NOT common HFE mutations v0.34 SLC25A38 Louise Daugherty Source London South GLH was added to SLC25A38.
Iron metabolism disorders - NOT common HFE mutations v0.33 CYBRD1 Louise Daugherty commented on gene: CYBRD1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 ALAS2 Louise Daugherty commented on gene: ALAS2: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 GLRX5 Louise Daugherty commented on gene: GLRX5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 SLC25A38 Louise Daugherty commented on gene: SLC25A38: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 BMP6 Louise Daugherty commented on gene: BMP6: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Iron metabolism disorders - NOT common HFE mutations v0.32 CYBRD1 Frances Smith reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 ALAS2 Frances Smith reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 GLRX5 Frances Smith reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 SLC25A38 Frances Smith reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 BMP6 Frances Smith edited their review of gene: BMP6: Changed rating: GREEN
Iron metabolism disorders - NOT common HFE mutations v0.31 SLC25A38 Louise Daugherty Phenotypes for gene: SLC25A38 were changed from 205950 Anemia, sideroblastic, 2, pyridoxine-refractory to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.30 GLRX5 Louise Daugherty Publications for gene: GLRX5 were set to 30401706; 24003969; 30098397
Iron metabolism disorders - NOT common HFE mutations v0.29 GLRX5 Louise Daugherty Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory to 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.28 ALAS2 Louise Daugherty Publications for gene: ALAS2 were set to 30401706; 24003969; 30098397
Iron metabolism disorders - NOT common HFE mutations v0.27 ALAS2 Louise Daugherty Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1 to 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.26 CYBRD1 Louise Daugherty Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload to NA IRON OVERLOAD; N/A Primary iron overload; Iron overload
Iron metabolism disorders - NOT common HFE mutations v0.25 SEC23B Carl Fratter reviewed gene: SEC23B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Iron metabolism disorders - NOT common HFE mutations v0.25 CDAN1 Carl Fratter reviewed gene: CDAN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Iron metabolism disorders - NOT common HFE mutations v0.25 TMPRSS6 Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200.IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 TFR2 Louise Daugherty commented on gene: TFR2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TFR2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604250.HEMOCHROMATOSIS, TYPE 3; HFE3; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 TF Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 SLC40A1 Louise Daugherty commented on gene: SLC40A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC40A1; 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: 606069.HEMOCHROMATOSIS, TYPE 4; HFE4; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 SLC11A2 Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia (OMIM entry 600523); PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 SERPINC1 Louise Daugherty commented on gene: SERPINC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 HFE2 Louise Daugherty commented on gene: HFE2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HJV; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 602390.HEMOCHROMATOSIS, TYPE 2A; HFE2A; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 HFE Louise Daugherty commented on gene: HFE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HFE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235200.HEMOCHROMATOSIS, TYPE 1; HFE1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 HEPH Louise Daugherty commented on gene: HEPH: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HEPH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Not submitted; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 HAMP Louise Daugherty commented on gene: HAMP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAMP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613313.HEMOCHROMATOSIS, TYPE 2B; HFE2B; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 FTL Louise Daugherty commented on gene: FTL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; 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: 600886.HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC, 606159. NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 , 615604. L-FERRITIN DEFICIENCY; LFTD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 FTH1 Louise Daugherty commented on gene: FTH1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTH1; 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: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 FECH Louise Daugherty commented on gene: FECH: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FECH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 177000.PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 CYBRD1 Louise Daugherty commented on gene: CYBRD1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYBRD1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: NA IRON OVERLOAD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 CP Louise Daugherty commented on gene: CP: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CP; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604290.ACERULOPLASMINEMIA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 BMP6 Louise Daugherty commented on gene: BMP6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BMP6; 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: NA IRON OVERLOAD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 ATP7B Louise Daugherty commented on gene: ATP7B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ATP7B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277900.WILSON DISEASE; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.25 ACVR1 Louise Daugherty commented on gene: ACVR1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVR1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.24 TMPRSS6 Steve Keeney reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA, IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 TFR2 Steve Keeney reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604250 HEMOCHROMATOSIS, TYPE 3, HFE3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 TF Steve Keeney reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 SLC40A1 Steve Keeney reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606069 HEMOCHROMATOSIS, TYPE 4, HFE4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.24 SLC11A2 Steve Keeney reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, AHMIO1 DMT1-related anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 SERPINC1 Steve Keeney reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY, A1ATD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 HFE2 Steve Keeney reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602390 HEMOCHROMATOSIS, TYPE 2A, HFE2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 HFE Steve Keeney reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235200HEMOCHROMATOSIS, TYPE 1, HFE1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.24 HEPH Steve Keeney reviewed gene: HEPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Iron metabolism disorders - NOT common HFE mutations v0.24 HAMP Steve Keeney reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613313 HEMOCHROMATOSIS, TYPE 2B, HFE2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 GBA Steve Keeney reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 FTL Steve Keeney reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT, HRFTC, 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NBIA3, 615604 L-FERRITIN DEFICIENCY, LFTD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.24 FTH1 Steve Keeney reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5, HFE5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.24 FECH Steve Keeney reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1, EPP1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 CYBRD1 Steve Keeney reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA IRON OVERLOAD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 CP Steve Keeney reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604290 ACERULOPLASMINEMIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 BMP6 Steve Keeney reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA IRON OVERLOAD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.24 ATP7B Steve Keeney reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277900 WILSON DISEASE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.24 ACVR1 Steve Keeney reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.23 TMPRSS6 Louise Daugherty Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
Iron metabolism disorders - NOT common HFE mutations v0.23 TFR2 Louise Daugherty Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2
Iron metabolism disorders - NOT common HFE mutations v0.23 TF Louise Daugherty Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF
Iron metabolism disorders - NOT common HFE mutations v0.23 SLC40A1 Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1
Iron metabolism disorders - NOT common HFE mutations v0.23 SLC11A2 Louise Daugherty Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia for gene: SLC11A2
Iron metabolism disorders - NOT common HFE mutations v0.23 SERPINC1 Louise Daugherty Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1
Iron metabolism disorders - NOT common HFE mutations v0.23 HFE2 Louise Daugherty Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2
Iron metabolism disorders - NOT common HFE mutations v0.23 HFE Louise Daugherty Added phenotypes HFE1; 235200HEMOCHROMATOSIS, TYPE 1 for gene: HFE
Iron metabolism disorders - NOT common HFE mutations v0.23 HAMP Louise Daugherty Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP
Iron metabolism disorders - NOT common HFE mutations v0.23 GBA Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Iron metabolism disorders - NOT common HFE mutations v0.23 FTL Louise Daugherty Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL
Iron metabolism disorders - NOT common HFE mutations v0.23 FTH1 Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.23 FECH Louise Daugherty Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Iron metabolism disorders - NOT common HFE mutations v0.23 CYBRD1 Louise Daugherty Added phenotypes NA IRON OVERLOAD for gene: CYBRD1
Iron metabolism disorders - NOT common HFE mutations v0.23 CP Louise Daugherty Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP
Iron metabolism disorders - NOT common HFE mutations v0.23 BMP6 Louise Daugherty Added phenotypes NA IRON OVERLOAD for gene: BMP6
Iron metabolism disorders - NOT common HFE mutations v0.23 ATP7B Louise Daugherty Added phenotypes 277900 WILSON DISEASE for gene: ATP7B
Iron metabolism disorders - NOT common HFE mutations v0.23 ACVR1 Louise Daugherty Added phenotypes IRIDA for gene: ACVR1
Iron metabolism disorders - NOT common HFE mutations v0.21 TMPRSS6 Louise Daugherty Source North West GLH was added to TMPRSS6.
Iron metabolism disorders - NOT common HFE mutations v0.21 TFR2 Louise Daugherty Source North West GLH was added to TFR2.
Iron metabolism disorders - NOT common HFE mutations v0.21 TF Louise Daugherty Source North West GLH was added to TF.
Iron metabolism disorders - NOT common HFE mutations v0.21 SLC40A1 Louise Daugherty Source North West GLH was added to SLC40A1.
Iron metabolism disorders - NOT common HFE mutations v0.21 SLC11A2 Louise Daugherty Source North West GLH was added to SLC11A2.
Iron metabolism disorders - NOT common HFE mutations v0.21 SERPINC1 Louise Daugherty Source North West GLH was added to SERPINC1.
Iron metabolism disorders - NOT common HFE mutations v0.21 HFE2 Louise Daugherty Source North West GLH was added to HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.21 HFE Louise Daugherty Source North West GLH was added to HFE.
Iron metabolism disorders - NOT common HFE mutations v0.21 HEPH Louise Daugherty Source North West GLH was added to HEPH.
Iron metabolism disorders - NOT common HFE mutations v0.21 HAMP Louise Daugherty Source North West GLH was added to HAMP.
Iron metabolism disorders - NOT common HFE mutations v0.21 GBA Louise Daugherty Source North West GLH was added to GBA.
Iron metabolism disorders - NOT common HFE mutations v0.21 FTL Louise Daugherty Source North West GLH was added to FTL.
Iron metabolism disorders - NOT common HFE mutations v0.21 FTH1 Louise Daugherty Source North West GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.21 FECH Louise Daugherty Source North West GLH was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.21 CYBRD1 Louise Daugherty Source North West GLH was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.21 CP Louise Daugherty Source North West GLH was added to CP.
Iron metabolism disorders - NOT common HFE mutations v0.21 BMP6 Louise Daugherty Source North West GLH was added to BMP6.
Iron metabolism disorders - NOT common HFE mutations v0.21 ATP7B Louise Daugherty Source North West GLH was added to ATP7B.
Iron metabolism disorders - NOT common HFE mutations v0.21 ACVR1 Louise Daugherty Source North West GLH was added to ACVR1.
Iron metabolism disorders - NOT common HFE mutations v0.20 TMPRSS6 Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 TFR2 Louise Daugherty commented on gene: TFR2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TFR2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604250 HEMOCHROMATOSIS, TYPE 3; HFE3; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 TF Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 SLC40A1 Louise Daugherty commented on gene: SLC40A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC40A1; Suggested intial 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: 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 SLC11A2 Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 SERPINC1 Louise Daugherty commented on gene: SERPINC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 SEC23B Louise Daugherty reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.20 HFE2 Louise Daugherty commented on gene: HFE2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HJV; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 602390 HEMOCHROMATOSIS, TYPE 2A; HFE2A; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 HFE Louise Daugherty commented on gene: HFE: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HFE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235200 HEMOCHROMATOSIS, TYPE 1; HFE1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 HEPH Louise Daugherty commented on gene: HEPH: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HEPH; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: N/A; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 HAMP Louise Daugherty commented on gene: HAMP: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAMP; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 GBA Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I;230900 Gaucher disease, type II;231000 Gaucher disease, type III;231005 Gaucher disease, type IIIC; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 FTL Louise Daugherty commented on gene: FTL: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; Suggested intial 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: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 FTH1 Louise Daugherty commented on gene: FTH1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTH1; Suggested intial 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: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 FECH Louise Daugherty commented on gene: FECH: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FECH; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 CYBRD1 Louise Daugherty commented on gene: CYBRD1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYBRD1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Primary iron overload; PMID(s): 15338274
Iron metabolism disorders - NOT common HFE mutations v0.20 CP Louise Daugherty commented on gene: CP: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CP; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604290 ACERULOPLASMINEMIA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 CDAN1 Louise Daugherty reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.20 BMP6 Louise Daugherty commented on gene: BMP6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BMP6; Suggested intial 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: N/A Iron overload; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 ATP7B Louise Daugherty commented on gene: ATP7B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ATP7B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277900 WILSON DISEASE; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.20 ACVR1 Louise Daugherty commented on gene: ACVR1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVR1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.19 SEC23B Louise Daugherty Mode of inheritance for gene: SEC23B was changed from to BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.18 SEC23B Louise Daugherty Classified gene: SEC23B as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.18 SEC23B Louise Daugherty Gene: sec23b has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.17 CDAN1 Louise Daugherty Mode of inheritance for gene: CDAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.16 CDAN1 Louise Daugherty Classified gene: CDAN1 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.16 CDAN1 Louise Daugherty Gene: cdan1 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.15 TMPRSS6 Mandy nesbitt reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA, IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 TFR2 Mandy nesbitt reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604250 HEMOCHROMATOSIS, TYPE 3, HFE3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 TF Mandy nesbitt reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 SLC40A1 Mandy nesbitt reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606069 HEMOCHROMATOSIS, TYPE 4, HFE4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.15 SLC11A2 Mandy nesbitt reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, AHMIO1 DMT1-related anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 SERPINC1 Mandy nesbitt reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY, A1ATD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.15 SEC23B Mandy nesbitt reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224100 Dyserythropoietic anemia, congenital, type II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 HFE2 Mandy nesbitt reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602390 HEMOCHROMATOSIS, TYPE 2A, HFE2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 HFE Mandy nesbitt reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235200 HEMOCHROMATOSIS, TYPE 1, HFE1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 HEPH Mandy nesbitt reviewed gene: HEPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Iron metabolism disorders - NOT common HFE mutations v0.15 HAMP Mandy nesbitt reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613313 HEMOCHROMATOSIS, TYPE 2B, HFE2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 GBA Mandy nesbitt reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 FTL Mandy nesbitt reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT, HRFTC, 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NBIA3, 615604 L-FERRITIN DEFICIENCY, LFTD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.15 FTH1 Mandy nesbitt reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5, HFE5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.15 FECH Mandy nesbitt reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1, EPP1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 CYBRD1 Mandy nesbitt reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15338274; Phenotypes: N/A Primary iron overload; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 CP Mandy nesbitt reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604290 ACERULOPLASMINEMIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 CDAN1 Mandy nesbitt reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 BMP6 Mandy nesbitt reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.15 ATP7B Mandy nesbitt reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277900 WILSON DISEASE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.15 ACVR1 Mandy nesbitt reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.14 TMPRSS6 Louise Daugherty Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
Iron metabolism disorders - NOT common HFE mutations v0.14 TFR2 Louise Daugherty Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2
Iron metabolism disorders - NOT common HFE mutations v0.14 TF Louise Daugherty Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF
Iron metabolism disorders - NOT common HFE mutations v0.14 SLC40A1 Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1
Iron metabolism disorders - NOT common HFE mutations v0.14 SLC11A2 Louise Daugherty Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia for gene: SLC11A2
Iron metabolism disorders - NOT common HFE mutations v0.14 SERPINC1 Louise Daugherty Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1
Iron metabolism disorders - NOT common HFE mutations v0.14 SEC23B Louise Daugherty Added phenotypes 224100 Dyserythropoietic anemia, congenital, type II for gene: SEC23B
Iron metabolism disorders - NOT common HFE mutations v0.14 HFE2 Louise Daugherty Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2
Iron metabolism disorders - NOT common HFE mutations v0.14 HFE Louise Daugherty Added phenotypes 235200 HEMOCHROMATOSIS, TYPE 1; HFE1 for gene: HFE
Iron metabolism disorders - NOT common HFE mutations v0.14 HAMP Louise Daugherty Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP
Iron metabolism disorders - NOT common HFE mutations v0.14 GBA Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Iron metabolism disorders - NOT common HFE mutations v0.14 FTL Louise Daugherty Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL
Iron metabolism disorders - NOT common HFE mutations v0.14 FTH1 Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.14 FECH Louise Daugherty Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Iron metabolism disorders - NOT common HFE mutations v0.14 CYBRD1 Louise Daugherty Added phenotypes N/A Primary iron overload for gene: CYBRD1
Iron metabolism disorders - NOT common HFE mutations v0.14 CP Louise Daugherty Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP
Publications for gene CP were changed from 8641692; 8789443; 11756598(potentially evidence for AD inheritance) to 15338274
Iron metabolism disorders - NOT common HFE mutations v0.14 CDAN1 Louise Daugherty Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia for gene: CDAN1
Iron metabolism disorders - NOT common HFE mutations v0.14 BMP6 Louise Daugherty Added phenotypes Iron overload for gene: BMP6
Iron metabolism disorders - NOT common HFE mutations v0.14 ATP7B Louise Daugherty Added phenotypes 277900 WILSON DISEASE for gene: ATP7B
Iron metabolism disorders - NOT common HFE mutations v0.14 ACVR1 Louise Daugherty Added phenotypes IRIDA for gene: ACVR1
Iron metabolism disorders - NOT common HFE mutations v0.13 SEC23B Louise Daugherty Source NHS GMS was added to SEC23B.
Iron metabolism disorders - NOT common HFE mutations v0.13 CDAN1 Louise Daugherty Source NHS GMS was added to CDAN1.
Iron metabolism disorders - NOT common HFE mutations v0.12 TMPRSS6 Louise Daugherty Source Yorkshire and North East GLH was added to TMPRSS6.
Iron metabolism disorders - NOT common HFE mutations v0.12 TFR2 Louise Daugherty Source Yorkshire and North East GLH was added to TFR2.
Iron metabolism disorders - NOT common HFE mutations v0.12 TF Louise Daugherty Source Yorkshire and North East GLH was added to TF.
Iron metabolism disorders - NOT common HFE mutations v0.12 SLC40A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC40A1.
Iron metabolism disorders - NOT common HFE mutations v0.12 SLC11A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC11A2.
Iron metabolism disorders - NOT common HFE mutations v0.12 SERPINC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERPINC1.
Iron metabolism disorders - NOT common HFE mutations v0.12 SEC23B Louise Daugherty gene: SEC23B was added
gene: SEC23B was added to Iron metabolism disorders. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: SEC23B was set to
Iron metabolism disorders - NOT common HFE mutations v0.12 HFE2 Louise Daugherty Source Yorkshire and North East GLH was added to HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.12 HFE Louise Daugherty Source Yorkshire and North East GLH was added to HFE.
Iron metabolism disorders - NOT common HFE mutations v0.12 HEPH Louise Daugherty Source Yorkshire and North East GLH was added to HEPH.
Iron metabolism disorders - NOT common HFE mutations v0.12 HAMP Louise Daugherty Source Yorkshire and North East GLH was added to HAMP.
Iron metabolism disorders - NOT common HFE mutations v0.12 GBA Louise Daugherty Source Yorkshire and North East GLH was added to GBA.
Iron metabolism disorders - NOT common HFE mutations v0.12 FTL Louise Daugherty Source Yorkshire and North East GLH was added to FTL.
Iron metabolism disorders - NOT common HFE mutations v0.12 FTH1 Louise Daugherty Source Yorkshire and North East GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.12 FECH Louise Daugherty Source Yorkshire and North East GLH was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.12 CYBRD1 Louise Daugherty Source Yorkshire and North East GLH was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.12 CP Louise Daugherty Source Yorkshire and North East GLH was added to CP.
Iron metabolism disorders - NOT common HFE mutations v0.12 CDAN1 Louise Daugherty gene: CDAN1 was added
gene: CDAN1 was added to Iron metabolism disorders. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: CDAN1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.12 BMP6 Louise Daugherty Source Yorkshire and North East GLH was added to BMP6.
Iron metabolism disorders - NOT common HFE mutations v0.12 ATP7B Louise Daugherty Source Yorkshire and North East GLH was added to ATP7B.
Iron metabolism disorders - NOT common HFE mutations v0.12 ACVR1 Louise Daugherty Source Yorkshire and North East GLH was added to ACVR1.
Iron metabolism disorders - NOT common HFE mutations v0.11 TMPRSS6 Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200 Iron-refractory iron deficiency anemia; PMID(s): 18408718; 19357398
Iron metabolism disorders - NOT common HFE mutations v0.11 TFR2 Louise Daugherty commented on gene: TFR2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TFR2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604250 Hemochromatosis, type 3; PMID(s): 10802645; 11313241
Iron metabolism disorders - NOT common HFE mutations v0.11 TF Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Atransferrinemia; PMID(s): 11110675; 15466165
Iron metabolism disorders - NOT common HFE mutations v0.11 SLC40A1 Louise Daugherty commented on gene: SLC40A1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC40A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 606069 Hemochromatosis, type 4; PMID(s): 11431687; 16351644
Iron metabolism disorders - NOT common HFE mutations v0.11 SLC11A2 Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; PMID(s): 15459009; 16160008; 16439678
Iron metabolism disorders - NOT common HFE mutations v0.11 HFE2 Louise Daugherty commented on gene: HFE2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HJV(HFE2); Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 602390 Hemochromatosis, type 2A; PMID(s): 14982873.
Iron metabolism disorders - NOT common HFE mutations v0.11 HFE Louise Daugherty commented on gene: HFE: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HFE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235200 Hemochromatosis; PMID(s): 18199861
Iron metabolism disorders - NOT common HFE mutations v0.11 HAMP Louise Daugherty commented on gene: HAMP: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HAMP; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613313 Hemochromatosis, type 2B; PMID(s): 12469120; 15198949; 12915468
Iron metabolism disorders - NOT common HFE mutations v0.11 FTL Louise Daugherty commented on gene: FTL: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; PMID(s): 23421845; 19176363; 23940258; 18413574
Iron metabolism disorders - NOT common HFE mutations v0.11 FTH1 Louise Daugherty commented on gene: FTH1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTH1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 615517 ?Hemochromatosis, type 5; PMID(s): 11389486
Iron metabolism disorders - NOT common HFE mutations v0.11 CP Louise Daugherty commented on gene: CP: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CP; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 604290 Hemosiderosis, systemic, due to aceruloplasminemia; PMID(s): 8641692; 8789443; 11756598(potentially evidence for AD inheritance)
Iron metabolism disorders - NOT common HFE mutations v0.11 BMP6 Louise Daugherty commented on gene: BMP6: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BMP6; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 112266 Mild to moderate iron overload; PMID(s): 26582087
Iron metabolism disorders - NOT common HFE mutations v0.10 TMPRSS6 Frances Smith reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: 18408718, 19357398; Phenotypes: 206200 Iron-refractory iron deficiency anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 TFR2 Frances Smith reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10802645, 11313241; Phenotypes: 604250 Hemochromatosis, type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 TF Frances Smith reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: 11110675, 15466165; Phenotypes: 209300 Atransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 SLC40A1 Frances Smith reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11431687, 16351644; Phenotypes: 606069 Hemochromatosis, type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 SLC11A2 Frances Smith reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15459009, 16160008, 16439678; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 HFE2 Frances Smith reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14982873; Phenotypes: 602390 Hemochromatosis, type 2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 HFE Frances Smith reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: 18199861; Phenotypes: 235200 Hemochromatosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 HAMP Frances Smith reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: 12469120, 15198949, 12915468; Phenotypes: 613313 Hemochromatosis, type 2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 FTL Frances Smith reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23421845, 19176363, 23940258, 18413574; Phenotypes: 600886 Hyperferritinemia-cataract syndrome, 615604 L-ferritin deficiency, dominant and recessive, 606159 Neurodegeneration with brain iron accumulation 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 FTH1 Frances Smith reviewed gene: FTH1: Rating: RED; Mode of pathogenicity: ; Publications: 11389486; Phenotypes: 615517 ?Hemochromatosis, type 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 CP Frances Smith reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: 8641692, 8789443, 11756598(potentially evidence for AD inheritance); Phenotypes: 604290 Hemosiderosis, systemic, due to aceruloplasminemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.10 BMP6 Frances Smith reviewed gene: BMP6: Rating: RED; Mode of pathogenicity: ; Publications: 26582087; Phenotypes: 112266 Mild to moderate iron overload; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.9 TMPRSS6 Louise Daugherty Added phenotypes 206200 Iron-refractory iron deficiency anemia for gene: TMPRSS6
Publications for gene TMPRSS6 were changed from 25588876; 28476747; 23729726 to 19357398; 18408718
Iron metabolism disorders - NOT common HFE mutations v0.9 TFR2 Louise Daugherty Added phenotypes 604250 Hemochromatosis, type 3 for gene: TFR2
Publications for gene TFR2 were changed from 24055163; 18094142; 26029709 to 10802645; 11313241
Iron metabolism disorders - NOT common HFE mutations v0.9 TF Louise Daugherty Added phenotypes 209300 Atransferrinemia for gene: TF
Publications for gene TF were changed from 23888904; 25486930; 11110675 to 15466165; 11110675
Iron metabolism disorders - NOT common HFE mutations v0.9 SLC40A1 Louise Daugherty Added phenotypes 606069 Hemochromatosis, type 4 for gene: SLC40A1
Publications for gene SLC40A1 were changed from 19846751 to 16351644; 11431687
Iron metabolism disorders - NOT common HFE mutations v0.9 SLC11A2 Louise Daugherty Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1 for gene: SLC11A2
Publications for gene SLC11A2 were changed from 29178181; 21871825 to 16160008; 16439678; 15459009
Iron metabolism disorders - NOT common HFE mutations v0.9 HFE2 Louise Daugherty Added phenotypes 602390 Hemochromatosis, type 2A for gene: HFE2
Publications for gene HFE2 were changed from 30166352; 14982873; 19342478; 14647275 to 14982873
Iron metabolism disorders - NOT common HFE mutations v0.9 HFE Louise Daugherty Added phenotypes 235200 Hemochromatosis for gene: HFE
Publications for gene HFE were changed from 27518069; 18210110; 24266916 to 18199861
Iron metabolism disorders - NOT common HFE mutations v0.9 HAMP Louise Daugherty Added phenotypes 613313 Hemochromatosis, type 2B for gene: HAMP
Publications for gene HAMP were changed from 22297252; 14630809 to 12469120; 15198949; 12915468
Iron metabolism disorders - NOT common HFE mutations v0.9 FTL Louise Daugherty Added phenotypes 606159 Neurodegeneration with brain iron accumulation 3; 615604 L-ferritin deficiency, dominant and recessive; 600886 Hyperferritinemia-cataract syndrome for gene: FTL
Publications for gene FTL were changed from 20511138; 29797321; 12547246; Neuroferritinopathy GeneReviews 2018; 23421845 to 18413574; 23940258; 23421845; 19176363
Iron metabolism disorders - NOT common HFE mutations v0.9 FTH1 Louise Daugherty Added phenotypes 615517 ?Hemochromatosis, type 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.9 CP Louise Daugherty Added phenotypes 604290 Hemosiderosis, systemic, due to aceruloplasminemia for gene: CP
Publications for gene CP were changed from 16629161; Aceruloplasminemia GeneReviews 2018; 24002824; 29503155 to 8641692; 8789443; 11756598(potentially evidence for AD inheritance)
Iron metabolism disorders - NOT common HFE mutations v0.9 BMP6 Louise Daugherty Added phenotypes 112266 Mild to moderate iron overload for gene: BMP6
Publications for gene BMP6 were changed from 28335084; 26582087 to 26582087
Iron metabolism disorders - NOT common HFE mutations v0.7 TMPRSS6 Louise Daugherty Source London South GLH was added to TMPRSS6.
Iron metabolism disorders - NOT common HFE mutations v0.7 TFR2 Louise Daugherty Source London South GLH was added to TFR2.
Iron metabolism disorders - NOT common HFE mutations v0.7 TF Louise Daugherty Source London South GLH was added to TF.
Iron metabolism disorders - NOT common HFE mutations v0.7 SLC40A1 Louise Daugherty Source London South GLH was added to SLC40A1.
Iron metabolism disorders - NOT common HFE mutations v0.7 SLC11A2 Louise Daugherty Source London South GLH was added to SLC11A2.
Iron metabolism disorders - NOT common HFE mutations v0.7 HFE2 Louise Daugherty Source London South GLH was added to HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.7 HFE Louise Daugherty Source London South GLH was added to HFE.
Iron metabolism disorders - NOT common HFE mutations v0.7 HAMP Louise Daugherty Source London South GLH was added to HAMP.
Iron metabolism disorders - NOT common HFE mutations v0.7 FTL Louise Daugherty Source London South GLH was added to FTL.
Iron metabolism disorders - NOT common HFE mutations v0.7 FTH1 Louise Daugherty Source London South GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.7 CP Louise Daugherty Source London South GLH was added to CP.
Iron metabolism disorders - NOT common HFE mutations v0.7 BMP6 Louise Daugherty Source London South GLH was added to BMP6.
Iron metabolism disorders - NOT common HFE mutations v0.6 HFE2 Louise Daugherty commented on gene: HFE2: New HGNC approved gene symbol for HFE2 is HJV
Iron metabolism disorders - NOT common HFE mutations v0.6 HFE2 Louise Daugherty Tag new-gene-name tag was added to gene: HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.6 TMPRSS6 Louise Daugherty reviewed gene: TMPRSS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 TFR2 Louise Daugherty reviewed gene: TFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 TF Louise Daugherty reviewed gene: TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 STEAP3 Louise Daugherty reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 SLC40A1 Louise Daugherty reviewed gene: SLC40A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 SLC25A38 Louise Daugherty reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 SLC11A2 Louise Daugherty reviewed gene: SLC11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 SERPINC1 Louise Daugherty reviewed gene: SERPINC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 HFE2 Louise Daugherty reviewed gene: HFE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 HFE Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 HEPH Louise Daugherty reviewed gene: HEPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 HAMP Louise Daugherty reviewed gene: HAMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 GLRX5 Louise Daugherty reviewed gene: GLRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 FTL Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 FTH1 Louise Daugherty reviewed gene: FTH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 FECH Louise Daugherty reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 CYBRD1 Louise Daugherty reviewed gene: CYBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 BMP6 Louise Daugherty reviewed gene: BMP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 ALAS2 Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 ACVR1 Louise Daugherty reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.6 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 TMPRSS6 Carl Fratter reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 TFR2 Carl Fratter reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 TF Carl Fratter reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 STEAP3 Carl Fratter reviewed gene: STEAP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 SLC40A1 Carl Fratter reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 SLC25A38 Carl Fratter reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 SLC11A2 Carl Fratter reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 SERPINC1 Carl Fratter reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 HFE2 Carl Fratter reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 HFE Carl Fratter reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 HEPH Carl Fratter reviewed gene: HEPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 HAMP Carl Fratter reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 GLRX5 Carl Fratter reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 GBA Carl Fratter reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 FTL Carl Fratter reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 FTH1 Carl Fratter reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 FECH Carl Fratter reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 CYBRD1 Carl Fratter reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 CP Carl Fratter reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 BMP6 Carl Fratter reviewed gene: BMP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 ATP7B Carl Fratter reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 ALAS2 Carl Fratter reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.5 ACVR1 Carl Fratter reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 ABCB7 Carl Fratter reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.4 TMPRSS6 Louise Daugherty Source NHS GMS was added to TMPRSS6.
Iron metabolism disorders - NOT common HFE mutations v0.4 TFR2 Louise Daugherty Source NHS GMS was added to TFR2.
Iron metabolism disorders - NOT common HFE mutations v0.4 TF Louise Daugherty Source NHS GMS was added to TF.
Iron metabolism disorders - NOT common HFE mutations v0.4 STEAP3 Louise Daugherty Source NHS GMS was added to STEAP3.
Iron metabolism disorders - NOT common HFE mutations v0.4 SLC40A1 Louise Daugherty Source NHS GMS was added to SLC40A1.
Iron metabolism disorders - NOT common HFE mutations v0.4 SLC25A38 Louise Daugherty Source NHS GMS was added to SLC25A38.
Iron metabolism disorders - NOT common HFE mutations v0.4 SLC11A2 Louise Daugherty Source NHS GMS was added to SLC11A2.
Iron metabolism disorders - NOT common HFE mutations v0.4 SERPINC1 Louise Daugherty Source NHS GMS was added to SERPINC1.
Iron metabolism disorders - NOT common HFE mutations v0.4 HFE2 Louise Daugherty Source NHS GMS was added to HFE2.
Iron metabolism disorders - NOT common HFE mutations v0.4 HFE Louise Daugherty Source NHS GMS was added to HFE.
Iron metabolism disorders - NOT common HFE mutations v0.4 HEPH Louise Daugherty Source NHS GMS was added to HEPH.
Iron metabolism disorders - NOT common HFE mutations v0.4 HAMP Louise Daugherty Source NHS GMS was added to HAMP.
Iron metabolism disorders - NOT common HFE mutations v0.4 GLRX5 Louise Daugherty Source NHS GMS was added to GLRX5.
Iron metabolism disorders - NOT common HFE mutations v0.4 GBA Louise Daugherty Source NHS GMS was added to GBA.
Iron metabolism disorders - NOT common HFE mutations v0.4 FTL Louise Daugherty Source NHS GMS was added to FTL.
Iron metabolism disorders - NOT common HFE mutations v0.4 FTH1 Louise Daugherty Source NHS GMS was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.4 FECH Louise Daugherty Source NHS GMS was added to FECH.
Iron metabolism disorders - NOT common HFE mutations v0.4 CYBRD1 Louise Daugherty Source NHS GMS was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.4 CP Louise Daugherty Source NHS GMS was added to CP.
Iron metabolism disorders - NOT common HFE mutations v0.4 BMP6 Louise Daugherty Source NHS GMS was added to BMP6.
Iron metabolism disorders - NOT common HFE mutations v0.4 ATP7B Louise Daugherty Source NHS GMS was added to ATP7B.
Iron metabolism disorders - NOT common HFE mutations v0.4 ALAS2 Louise Daugherty Source NHS GMS was added to ALAS2.
Iron metabolism disorders - NOT common HFE mutations v0.4 ACVR1 Louise Daugherty Source NHS GMS was added to ACVR1.
Iron metabolism disorders - NOT common HFE mutations v0.4 ABCB7 Louise Daugherty Source NHS GMS was added to ABCB7.
Iron metabolism disorders - NOT common HFE mutations v0.3 TMPRSS6 Louise Daugherty Source Expert Review Green was added to TMPRSS6.
Mode of inheritance for gene TMPRSS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
Publications for gene TMPRSS6 were changed from to 25588876; 28476747; 23729726
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 TFR2 Louise Daugherty Source Expert Review Green was added to TFR2.
Mode of inheritance for gene TFR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2
Publications for gene TFR2 were changed from to 24055163; 18094142; 26029709
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 TF Louise Daugherty Source Expert Review Green was added to TF.
Mode of inheritance for gene TF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF
Publications for gene TF were changed from to 23888904; 25486930; 11110675
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 STEAP3 Louise Daugherty 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)
Iron metabolism disorders - NOT common HFE mutations v0.3 SLC40A1 Louise Daugherty Source Expert Review Green was added to SLC40A1.
Mode of inheritance for gene SLC40A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1
Publications for gene SLC40A1 were changed from to 19846751
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 SLC25A38 Louise Daugherty Source Expert Review Green was added to SLC25A38.
Mode of inheritance for gene SLC25A38 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 205950 Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38
Publications for gene SLC25A38 were changed from to 19412178; 24323989; 21393332
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 SLC11A2 Louise Daugherty Source Expert Review Green was added to SLC11A2.
Mode of inheritance for gene SLC11A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1; DMT1-related anemia for gene: SLC11A2
Publications for gene SLC11A2 were changed from to 29178181; 21871825
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 SERPINC1 Louise Daugherty Source Expert Review Green was added to SERPINC1.
Mode of inheritance for gene SERPINC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY for gene: SERPINC1
Publications for gene SERPINC1 were changed from to 18210110; 27296815
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 HFE2 Louise Daugherty Source Expert Review Green was added to HFE2.
Mode of inheritance for gene HFE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2
Publications for gene HFE2 were changed from to 30166352; 14982873; 19342478; 14647275
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 HFE Louise Daugherty Source Expert Review Green was added to HFE.
Mode of inheritance for gene HFE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 235200 HEMOCHROMATOSIS, TYPE 1; HFE1 for gene: HFE
Publications for gene HFE were changed from to 27518069; 18210110; 24266916
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 HEPH Louise Daugherty Source Expert Review Green was added to HEPH.
Mode of inheritance for gene HEPH was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 HAMP Louise Daugherty Source Expert Review Green was added to HAMP.
Mode of inheritance for gene HAMP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP
Publications for gene HAMP were changed from to 22297252; 14630809
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 GLRX5 Louise Daugherty Source Expert Review Green was added to GLRX5.
Mode of inheritance for gene GLRX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 616860 Anemia, sideroblastic, 3, pyridoxine-refractory for gene: GLRX5
Publications for gene GLRX5 were changed from to 30401706; 24003969; 30098397
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 GBA Louise Daugherty Source Expert Review Green was added to GBA.
Mode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA
Publications for gene GBA were changed from to 27265538; 27816428; 20575041
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 FTL Louise Daugherty Source Expert Review Green was added to FTL.
Mode of inheritance for gene FTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL
Publications for gene FTL were changed from to 20511138; 29797321; 12547246; Neuroferritinopathy GeneReviews 2018; 23421845
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 FTH1 Louise Daugherty Source Expert Review Green was added to FTH1.
Mode of inheritance for gene FTH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Publications for gene FTH1 were changed from to 11389486
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 FECH Louise Daugherty Source Expert Review Green was added to FECH.
Mode of inheritance for gene FECH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 for gene: FECH
Publications for gene FECH were changed from to 26387792; 20857522; 28614581
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 CYBRD1 Louise Daugherty Source Expert Review Green was added to CYBRD1.
Mode of inheritance for gene CYBRD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene CYBRD1 were changed from to 15338274; 27884173
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 CP Louise Daugherty Source Expert Review Green was added to CP.
Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 604290 ACERULOPLASMINEMIA for gene: CP
Publications for gene CP were changed from to 16629161; Aceruloplasminemia GeneReviews 2018; 24002824; 29503155
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 BMP6 Louise Daugherty Source Expert Review Green was added to BMP6.
Mode of inheritance for gene BMP6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Iron overload for gene: BMP6
Publications for gene BMP6 were changed from to 28335084; 26582087
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 ATP7B Louise Daugherty Source Expert Review Green was added to ATP7B.
Mode of inheritance for gene ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 277900 WILSON DISEASE for gene: ATP7B
Publications for gene ATP7B were changed from to 24002824; 18210110; 27982432; 24266916; 28433102
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 ALAS2 Louise Daugherty Source Expert Review Green was added to ALAS2.
Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1 for gene: ALAS2
Publications for gene ALAS2 were changed from to 30401706; 24003969; 30098397
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 ACVR1 Louise Daugherty Source Expert Review Green was added to ACVR1.
Mode of inheritance for gene ACVR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes new type of IRIDA for gene: ACVR1
Publications for gene ACVR1 were changed from to 28476747
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.3 ABCB7 Louise Daugherty Source Expert Review Green was added to ABCB7.
Mode of inheritance for gene ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes 301310 Anemia, sideroblastic, with ataxia for gene: ABCB7
Publications for gene ABCB7 were changed from to 30401706; 10196363; 29787825
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.2 TMPRSS6 Louise Daugherty gene: TMPRSS6 was added
gene: TMPRSS6 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TMPRSS6 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 TFR2 Louise Daugherty gene: TFR2 was added
gene: TFR2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TFR2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 TF Louise Daugherty gene: TF was added
gene: TF was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TF was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 STEAP3 Louise Daugherty 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
Iron metabolism disorders - NOT common HFE mutations v0.2 SLC40A1 Louise Daugherty gene: SLC40A1 was added
gene: SLC40A1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC40A1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 SLC25A38 Louise Daugherty gene: SLC25A38 was added
gene: SLC25A38 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC25A38 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 SLC11A2 Louise Daugherty gene: SLC11A2 was added
gene: SLC11A2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLC11A2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 SERPINC1 Louise Daugherty gene: SERPINC1 was added
gene: SERPINC1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SERPINC1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 HFE2 Louise Daugherty gene: HFE2 was added
gene: HFE2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HFE2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 HFE Louise Daugherty gene: HFE was added
gene: HFE was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HFE was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 HEPH Louise Daugherty gene: HEPH was added
gene: HEPH was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HEPH was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 HAMP Louise Daugherty gene: HAMP was added
gene: HAMP was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: HAMP was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 GLRX5 Louise Daugherty gene: GLRX5 was added
gene: GLRX5 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GLRX5 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 GBA Louise Daugherty gene: GBA was added
gene: GBA was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GBA was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 FTL Louise Daugherty gene: FTL was added
gene: FTL was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FTL was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 FTH1 Louise Daugherty gene: FTH1 was added
gene: FTH1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FTH1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 FECH Louise Daugherty gene: FECH was added
gene: FECH was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FECH was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 CYBRD1 Louise Daugherty gene: CYBRD1 was added
gene: CYBRD1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CYBRD1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 CP Louise Daugherty gene: CP was added
gene: CP was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: CP was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 BMP6 Louise Daugherty gene: BMP6 was added
gene: BMP6 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BMP6 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 ATP7B Louise Daugherty gene: ATP7B was added
gene: ATP7B was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ATP7B was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 ALAS2 Louise Daugherty gene: ALAS2 was added
gene: ALAS2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ALAS2 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 ACVR1 Louise Daugherty gene: ACVR1 was added
gene: ACVR1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ACVR1 was set to
Iron metabolism disorders - NOT common HFE mutations v0.2 ABCB7 Louise Daugherty gene: ABCB7 was added
gene: ABCB7 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ABCB7 was set to
Iron metabolism disorders - NOT common HFE mutations v0.0 Ellen McDonagh Added Panel Iron metabolism disorders
Set panel types to: GMS Rare Disease