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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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. |
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| 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 |
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| 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) |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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) |
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| Haem degradation and bilirubin metabolism defects v0.0 | Bryony Thompson Added panel Porphyria_RMH | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||