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Haem degradation and bilirubin metabolism defects v1.0 CLPX Gene migrated from ENSG00000166855 to ENSG00000166855 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 ABCB6 Gene migrated from ENSG00000115657 to ENSG00000115657 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 HFE Gene migrated from ENSG00000010704 to ENSG00000010704 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 GATA1 Gene migrated from ENSG00000102145 to ENSG00000102145 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 SLC10A2 Gene migrated from ENSG00000125255 to ENSG00000125255 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 CYB5A Gene migrated from ENSG00000166347 to ENSG00000166347 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 BLVRA Gene migrated from ENSG00000106605 to ENSG00000106605 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 ABCC2 Gene migrated from ENSG00000023839 to ENSG00000023839 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 UGT1A1 Gene migrated from ENSG00000241635 to ENSG00000241635 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 HMOX1 Gene migrated from ENSG00000100292 to ENSG00000100292 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 CYB5R3 Gene migrated from ENSG00000100243 to ENSG00000100243 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 UROS Gene migrated from ENSG00000188690 to ENSG00000188690 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 UROD Gene migrated from ENSG00000126088 to ENSG00000126088 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 ALAS2 Gene migrated from ENSG00000158578 to ENSG00000158578 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 ALAD Gene migrated from ENSG00000148218 to ENSG00000148218 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 HMBS Gene migrated from ENSG00000256269 to ENSG00000256269 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 CPOX Gene migrated from ENSG00000080819 to ENSG00000080819 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 PPOX Gene migrated from ENSG00000143224 to ENSG00000143224 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 SLCO1B3 Gene migrated from ENSG00000111700 to ENSG00000111700 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 NR1H4 Gene migrated from ENSG00000012504 to ENSG00000012504 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 ABCB4 Gene migrated from ENSG00000005471 to ENSG00000005471 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 ABCB11 Gene migrated from ENSG00000073734 to ENSG00000073734 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 SLCO1B1 Gene migrated from ENSG00000134538 to ENSG00000134538 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 ATP8B1 Gene migrated from ENSG00000081923 to ENSG00000081923 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 FECH Gene migrated from ENSG00000066926 to ENSG00000066926 (gene set migration)
Haem degradation and bilirubin metabolism defects v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.20
Haem degradation and bilirubin metabolism defects v0.20 Bryony Thompson Copied gene CLPX from panel Mendeliome
Haem degradation and bilirubin metabolism defects v0.20 CLPX Bryony Thompson gene: CLPX was added
gene: CLPX was added to Haem degradation and bilirubin metabolism defects. Sources: Literature
Mode of inheritance for gene: CLPX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLPX were set to 28874591; 25957689
Phenotypes for gene: CLPX were set to protoporphyria, erythropoietic, 2 MONDO:0060729
Haem degradation and bilirubin metabolism defects v0.19 SLC10A2 Zornitza Stark Marked gene: SLC10A2 as ready
Haem degradation and bilirubin metabolism defects v0.19 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Amber List (Moderate Evidence).
Haem degradation and bilirubin metabolism defects v0.19 SLC10A2 Zornitza Stark Publications for gene: SLC10A2 were set to 9109432
Haem degradation and bilirubin metabolism defects v0.18 SLC10A2 Zornitza Stark Classified gene: SLC10A2 as Amber List (moderate evidence)
Haem degradation and bilirubin metabolism defects v0.18 SLC10A2 Zornitza Stark Gene: slc10a2 has been classified as Amber List (Moderate Evidence).
Haem degradation and bilirubin metabolism defects v0.17 SLC10A2 Zornitza Stark reviewed gene: SLC10A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 9109432, 40814585; Phenotypes: Bile acid malabsorption, primary, MIM# 613291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.17 SLCO1B3 Bryony Thompson gene: SLCO1B3 was added
gene: SLCO1B3 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: SLCO1B3 was set to Other
Publications for gene: SLCO1B3 were set to 36964102, 33860121
Phenotypes for gene: SLCO1B3 were set to Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport
Haem degradation and bilirubin metabolism defects v0.17 SLC10A2 Bryony Thompson gene: SLC10A2 was added
gene: SLC10A2 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Red
Mode of inheritance for gene: SLC10A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A2 were set to 9109432
Phenotypes for gene: SLC10A2 were set to bile acid malabsorption, primary, 1 MONDO:0013214; Disorders of bile acid metabolism
Haem degradation and bilirubin metabolism defects v0.17 NR1H4 Bryony Thompson gene: NR1H4 was added
gene: NR1H4 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR1H4 were set to 26888176, 32443034
Phenotypes for gene: NR1H4 were set to Disorders of bile acid metabolism; cholestasis, progressive familial intrahepatic, 5 MONDO:0014884
Haem degradation and bilirubin metabolism defects v0.17 ABCB4 Bryony Thompson gene: ABCB4 was added
gene: ABCB4 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB4 were set to 8666348
Phenotypes for gene: ABCB4 were set to Disorders of bile acid metabolism; progressive familial intrahepatic cholestasis type 3 MONDO:0011214
Haem degradation and bilirubin metabolism defects v0.17 ABCB11 Bryony Thompson gene: ABCB11 was added
gene: ABCB11 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 9806540
Phenotypes for gene: ABCB11 were set to progressive familial intrahepatic cholestasis type 2 MONDO:0011156; Disorders of bile acid metabolism
Haem degradation and bilirubin metabolism defects v0.17 ATP8B1 Bryony Thompson gene: ATP8B1 was added
gene: ATP8B1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 9500542
Phenotypes for gene: ATP8B1 were set to progressive familial intrahepatic cholestasis type 1 MONDO:0008892; Disorders of bile acid metabolism
Haem degradation and bilirubin metabolism defects v0.17 SLCO1B1 Bryony Thompson gene: SLCO1B1 was added
gene: SLCO1B1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: SLCO1B1 was set to Other
Publications for gene: SLCO1B1 were set to 36964102, 33860121
Phenotypes for gene: SLCO1B1 were set to Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport
Haem degradation and bilirubin metabolism defects v0.17 ABCC2 Bryony Thompson gene: ABCC2 was added
gene: ABCC2 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC2 were set to 21044052, 11477083
Phenotypes for gene: ABCC2 were set to Disorders of haem degradation and bilirubin metabolism; Dubin-Johnson syndrome MONDO:0009380
Haem degradation and bilirubin metabolism defects v0.17 UGT1A1 Bryony Thompson gene: UGT1A1 was added
gene: UGT1A1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGT1A1 were set to 26595536
Phenotypes for gene: UGT1A1 were set to Disorders of haem degradation and bilirubin metabolism; Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725
Haem degradation and bilirubin metabolism defects v0.17 BLVRA Bryony Thompson gene: BLVRA was added
gene: BLVRA was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Amber
Mode of inheritance for gene: BLVRA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BLVRA were set to 19580635, 21278388
Phenotypes for gene: BLVRA were set to Disorders of haem degradation and bilirubin metabolism; hyperbiliverdinemia MONDO:0013595
Haem degradation and bilirubin metabolism defects v0.17 HMOX1 Bryony Thompson gene: HMOX1 was added
gene: HMOX1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMOX1 were set to 21088618, 9884342, 20844238, 33066778
Phenotypes for gene: HMOX1 were set to Disorders of haem degradation and bilirubin metabolism; heme oxygenase 1 deficiency MONDO:0013536
Haem degradation and bilirubin metabolism defects v0.17 CYB5A Bryony Thompson gene: CYB5A was added
gene: CYB5A was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Amber
Mode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5A were set to 22170710, 20080843, 32051920, 3951505
Phenotypes for gene: CYB5A were set to Disorders of haem degradation and bilirubin metabolism; methemoglobinemia type 4 MONDO:0009605
Haem degradation and bilirubin metabolism defects v0.17 CYB5R3 Bryony Thompson gene: CYB5R3 was added
gene: CYB5R3 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5R3 were set to 2107882, 1707593, 12393396
Phenotypes for gene: CYB5R3 were set to Disorders of haem degradation and bilirubin metabolism; methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606
Haem degradation and bilirubin metabolism defects v0.17 ABCB6 Bryony Thompson gene: ABCB6 was added
gene: ABCB6 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Red
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCB6 were set to 24947683
Phenotypes for gene: ABCB6 were set to familial pseudohyperkalemia MONDO:0012204; Disorders of heme synthesis and porphyrias
Haem degradation and bilirubin metabolism defects v0.16 Bryony Thompson Panel name changed from Porphyria to Haem degradation and bilirubin metabolism defects
HPO terms changed from Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472 to Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472;Hyperbilirubinemia, HP:0002904
List of related panels changed from Porphyria; MONDO:0037939;Abnormal circulating porphyrin concentration; HP:0010472 to Porphyria; MONDO:0037939;Abnormal circulating porphyrin concentration; HP:0010472;Hyperbilirubinemia; HP:0002904
Haem degradation and bilirubin metabolism defects v0.15 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata, MIM# 176200 to Porphyria variegata, MIM# 176200; Variegate porphyria, childhood-onset, MIM# 620483
Haem degradation and bilirubin metabolism defects v0.14 PPOX Zornitza Stark Publications for gene: PPOX were set to 27982422
Haem degradation and bilirubin metabolism defects v0.13 PPOX Zornitza Stark edited their review of gene: PPOX: Changed publications: 9811936, 11286631, 33159949
Haem degradation and bilirubin metabolism defects v0.13 PPOX Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Variegate porphyria, childhood-onset, MIM# 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.13 Zornitza Stark HPO terms changed from to Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472
List of related panels changed from to Porphyria; MONDO:0037939;Abnormal circulating porphyrin concentration; HP:0010472
Haem degradation and bilirubin metabolism defects v0.12 UROS Zornitza Stark Publications for gene: UROS were set to 8829650
Haem degradation and bilirubin metabolism defects v0.11 UROS Crystle Lee reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334762, 27512208; Phenotypes: Porphyria, congenital erythropoietic (MIM#263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.11 HMBS Zornitza Stark Marked gene: HMBS as ready
Haem degradation and bilirubin metabolism defects v0.11 HMBS Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.11 HMBS Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, acute intermittent, MIM# 176000, Porphyria, acute intermittent, nonerythroid variant, MIM# 176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haem degradation and bilirubin metabolism defects v0.11 CPOX Zornitza Stark Marked gene: CPOX as ready
Haem degradation and bilirubin metabolism defects v0.11 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.11 CPOX Zornitza Stark reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coproporphyria, MIM# 121300, Harderoporphyria, MIM# 618892; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.11 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Haem degradation and bilirubin metabolism defects v0.11 GATA1 Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence).
Haem degradation and bilirubin metabolism defects v0.11 UROS Zornitza Stark Marked gene: UROS as ready
Haem degradation and bilirubin metabolism defects v0.11 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.11 UROS Zornitza Stark Publications for gene: UROS were set to
Haem degradation and bilirubin metabolism defects v0.10 UROD Zornitza Stark Marked gene: UROD as ready
Haem degradation and bilirubin metabolism defects v0.10 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.10 UROD Zornitza Stark Publications for gene: UROD were set to
Haem degradation and bilirubin metabolism defects v0.9 UROD Zornitza Stark Mode of inheritance for gene: UROD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haem degradation and bilirubin metabolism defects v0.8 PPOX Zornitza Stark Marked gene: PPOX as ready
Haem degradation and bilirubin metabolism defects v0.8 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.8 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata 176200 to Porphyria variegata, MIM# 176200
Haem degradation and bilirubin metabolism defects v0.7 PPOX Zornitza Stark Publications for gene: PPOX were set to
Haem degradation and bilirubin metabolism defects v0.6 FECH Zornitza Stark Marked gene: FECH as ready
Haem degradation and bilirubin metabolism defects v0.6 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.6 FECH Zornitza Stark Publications for gene: FECH were set to
Haem degradation and bilirubin metabolism defects v0.5 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
Haem degradation and bilirubin metabolism defects v0.5 ALAS2 Zornitza Stark Gene: alas2 has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.5 ALAS2 Zornitza Stark Mode of inheritance for gene: ALAS2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Haem degradation and bilirubin metabolism defects v0.4 ALAD Zornitza Stark Marked gene: ALAD as ready
Haem degradation and bilirubin metabolism defects v0.4 ALAD Zornitza Stark Gene: alad has been classified as Green List (High Evidence).
Haem degradation and bilirubin metabolism defects v0.4 ALAD Zornitza Stark Publications for gene: ALAD were set to
Haem degradation and bilirubin metabolism defects v0.3 HFE Zornitza Stark Marked gene: HFE as ready
Haem degradation and bilirubin metabolism defects v0.3 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Haem degradation and bilirubin metabolism defects v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Haem degradation and bilirubin metabolism defects v0.2 HFE Bryony Thompson Classified gene: HFE as Red List (low evidence)
Haem degradation and bilirubin metabolism defects v0.2 HFE Bryony Thompson Gene: hfe has been classified as Red List (Low Evidence).
Haem degradation and bilirubin metabolism defects v0.1 HFE Belinda Chong edited their review of gene: HFE: Changed publications: 30683557
Haem degradation and bilirubin metabolism defects v0.1 HFE Zornitza Stark reviewed gene: HFE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Porphyria cutanea tarda, susceptibility to} 176100, {Porphyria variegata, susceptibility to} 176200; Mode of inheritance: None
Haem degradation and bilirubin metabolism defects v0.1 PPOX Paul De Fazio reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 27982422; Phenotypes: Porphyria variegata, MIM#600923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Haem degradation and bilirubin metabolism defects v0.1 UROD Paul De Fazio reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9792863; Phenotypes: Porphyria cutanea tarda; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Haem degradation and bilirubin metabolism defects v0.1 GATA1 Belinda Chong reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25251786, 17148589; Phenotypes: Congenital Erythropoietic Porphyria; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Haem degradation and bilirubin metabolism defects v0.1 UROD Paul De Fazio Deleted their review
Haem degradation and bilirubin metabolism defects v0.1 UROD Paul De Fazio reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9792863; Phenotypes: Porphyria cutanea tarda; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.1 ALAD Ain Roesley reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16343966, 30724374, 31311713; Phenotypes: Porphyria, acute hepatic (MIM# 612740); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.1 UROS Paul De Fazio reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8829650; Phenotypes: Congenital erythropoietic porphyria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Haem degradation and bilirubin metabolism defects v0.1 HFE Belinda Chong reviewed gene: HFE: Rating: RED; Mode of pathogenicity: None; Publications: 235200; Phenotypes: Hemochromatosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.1 Bryony Thompson Panel name changed from Porphyria_RMH to Porphyria
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Haem degradation and bilirubin metabolism defects v0.0 FECH Zornitza Stark Tag SV/CNV tag was added to gene: FECH.
Tag deep intronic tag was added to gene: FECH.
Haem degradation and bilirubin metabolism defects v0.0 FECH Zornitza Stark reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20105171, 23016163; Phenotypes: Protoporphyria, erythropoietic, 1, MIM# 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.0 UROS Bryony Thompson gene: UROS was added
gene: UROS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyrias with erosive photodermatosis; Porphyria, congenital erythropoietic 263700
Haem degradation and bilirubin metabolism defects v0.0 UROD Bryony Thompson gene: UROD was added
gene: UROD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Haem degradation and bilirubin metabolism defects v0.0 PPOX Bryony Thompson gene: PPOX was added
gene: PPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PPOX were set to Porphyria variegata 176200
Haem degradation and bilirubin metabolism defects v0.0 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000
Haem degradation and bilirubin metabolism defects v0.0 HFE Bryony Thompson gene: HFE was added
gene: HFE was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: HFE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Porphyria cutanea tarda, susceptibility to}, 176100; {Porphyria variegata, susceptibility to}, 176200
Haem degradation and bilirubin metabolism defects v0.0 GATA1 Bryony Thompson gene: GATA1 was added
gene: GATA1 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 25251786; 17148589
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Haem degradation and bilirubin metabolism defects v0.0 FECH Bryony Thompson gene: FECH was added
gene: FECH was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, autosomal recessive, 177000
Haem degradation and bilirubin metabolism defects v0.0 CPOX Bryony Thompson gene: CPOX was added
gene: CPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Harderoporphyria 121300
Haem degradation and bilirubin metabolism defects v0.0 ALAS2 Bryony Thompson gene: ALAS2 was added
gene: ALAS2 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751
Haem degradation and bilirubin metabolism defects v0.0 ALAD Bryony Thompson gene: ALAD was added
gene: ALAD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)
Haem degradation and bilirubin metabolism defects v0.0 Bryony Thompson Added panel Porphyria_RMH