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  2. Haem degradation and bilirubin metabolism defects

Haem degradation and bilirubin metabolism defects (Version 0.17)

Level 2: Metabolic disorders

Relevant disorders: Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472;Hyperbilirubinemia, HP:0002904
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. 

This panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.
Panel Activity

5 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

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

24 Entities

9 reviewed, 18 green

List Entity Reviews Mode of inheritance Details
24 Entitiess
Green List (high evidence)
ABCB11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • progressive familial intrahepatic cholestasis type 2 MONDO:0011156
  • Disorders of bile acid metabolism
Tags
Green List (high evidence)
ABCB4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of bile acid metabolism
  • progressive familial intrahepatic cholestasis type 3 MONDO:0011214
Tags
Green List (high evidence)
ABCC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • Dubin-Johnson syndrome MONDO:0009380
Tags
Green List (high evidence)
ALAD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria, acute hepatic 612740
  • {Lead poisoning, susceptibility to} 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
Tags
Green List (high evidence)
ALAS2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Protoporphyria, erythropoietic, X-linked, 300752
  • Anemia, sideroblastic, X-linked, 300751
Tags
Green List (high evidence)
ATP8B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • progressive familial intrahepatic cholestasis type 1 MONDO:0008892
  • Disorders of bile acid metabolism
Tags
Green List (high evidence)
CPOX
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Coproporphyria 121300
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
  • Harderoporphyria 121300
Tags
Green List (high evidence)
CYB5R3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606
Tags
Green List (high evidence)
FECH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Protoporphyria, erythropoietic, autosomal recessive, 177000
Tags
  • deep intronic
  • SV/CNV
Green List (high evidence)
HMBS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria, acute intermittent, 176000
  • Porphyria, acute intermittent, nonerythroid variant, 176000
Tags
Green List (high evidence)
HMOX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • heme oxygenase 1 deficiency MONDO:0013536
Tags
Green List (high evidence)
NR1H4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of bile acid metabolism
  • cholestasis, progressive familial intrahepatic, 5 MONDO:0014884
Tags
Green List (high evidence)
PPOX
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria variegata, MIM# 176200
  • Variegate porphyria, childhood-onset, MIM# 620483
Tags
Green List (high evidence)
SLCO1B1
0 reviews
 Other
Sources
  • Expert Review Green
Phenotypes
  • Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport
Tags
Green List (high evidence)
SLCO1B3
0 reviews
 Other
Sources
  • Expert Review Green
Phenotypes
  • Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport
Tags
Green List (high evidence)
UGT1A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725
Tags
Green List (high evidence)
UROD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Tags
Green List (high evidence)
UROS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyrias with erosive photodermatosis
  • Porphyria, congenital erythropoietic 263700
Tags
Amber List (moderate evidence)
BLVRA
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • hyperbiliverdinemia MONDO:0013595
Tags
Amber List (moderate evidence)
CYB5A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • methemoglobinemia type 4 MONDO:0009605
Tags
Amber List (moderate evidence)
GATA1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
  • Congenital erythropoietic porphyria
Tags
Red List (low evidence)
ABCB6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • familial pseudohyperkalemia MONDO:0012204
  • Disorders of heme synthesis and porphyrias
Tags
Red List (low evidence)
HFE
2 reviews
2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • {Porphyria cutanea tarda, susceptibility to}, 176100
  • {Porphyria variegata, susceptibility to}, 176200
Tags
Red List (low evidence)
SLC10A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • bile acid malabsorption, primary, 1 MONDO:0013214
  • Disorders of bile acid metabolism
Tags

Downloads

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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