PanelApp
  1. Panels
  2. Liverome Superpanel
Description
This panel contains genes associated with liver disease. It was created for use in the Melbourne Genomics Transplant Clinical Change Project.

203 Entities

188 reviewed, 142 green

List Entity Reviews Mode of inheritance Details
203 Entitiess
Green Green List (high evidence)
ABCB11
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR
  • Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR
Tags
Green Green List (high evidence)
ABCB11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic 2, MIM# 601847
Tags
Green 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 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 Green List (high evidence)
ABCB4
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3 MIM#602347
  • disorder of bile acid metabolism
  • Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972)
  • Gallbladder disease 1 (MIM#600803)
Tags
Green Green List (high evidence)
ABCB4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Progressive familial intrahepatic cholestasis type 3, MONDO:0011214
Tags
Green Green List (high evidence)
ABCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dubin-Johnson syndrome, MIM# 237500
Tags
Green 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 Green List (high evidence)
ACADM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Tags
  • treatable
Green Green List (high evidence)
ADK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Tags
Green Green List (high evidence)
AKR1D1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 2, MIM# 235555
Tags
  • treatable
Green Green List (high evidence)
AKR1D1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bile acid synthesis defect, congenital, 2, MIM# 235555
Tags
  • treatable
Green 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 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 Green List (high evidence)
ALDOB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fructose intolerance, hereditary, MIM# 229600
Tags
  • treatable
Green Green List (high evidence)
ALDOB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fructose intolerance, hereditary, MIM# 229600
Tags
  • treatable
Green Green List (high evidence)
ALG5
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polycystic kidney disease 7, MIM# 620056
  • Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline
Tags
Green Green List (high evidence)
ALG8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Tags
Green Green List (high evidence)
ALMS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alstrom syndrome, MIM# 203800
Tags
Green Green List (high evidence)
AMACR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 4, MIM# 214950
Tags
Green Green List (high evidence)
AMACR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bile acid synthesis defect, congenital, 4, MIM# 214950
Tags
Green Green List (high evidence)
ASL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • NHS GMS
  • Genomics England PanelApp
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Argininosuccinic aciduria 207900
Tags
  • treatable
Green Green List (high evidence)
ATP6AP1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 47, MIM# 300972
Tags
Green Green List (high evidence)
ATP6AP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIr, MIM# 301045
Tags
Green Green List (high evidence)
ATP7B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wilson disease, MIM# 277900
Tags
Green Green List (high evidence)
ATP7B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Wilson disease, MIM#277900
Tags
Green Green List (high evidence)
ATP8B1
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1, MIM# 211600
  • Cholestasis, benign recurrent intrahepatic, MIM# 243300
  • Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Tags
Green 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 Green List (high evidence)
ATP8B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1, MIM# 211600
Tags
Green Green List (high evidence)
BAAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid conjugation defect 1, MIM# 619232
Tags
Green Green List (high evidence)
BCS1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • GRACILE syndrome, MIM# 603358
  • Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400
Tags
Green Green List (high evidence)
BCS1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • GRACILE syndrome, MIM# 603358
  • Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400
Tags
Green Green List (high evidence)
CC2D2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • COACH syndrome 2, MIM# 619111
  • Meckel syndrome 6, MIM#612284
Tags
Green Green List (high evidence)
CCDC115
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIo, MIM# 616828
Tags
Green Green List (high evidence)
CLDN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
Tags
Green Green List (high evidence)
COG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIe , MIM#608779
Tags
Green 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 Green List (high evidence)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CPT II deficiency, infantile, MIM# 600649
Tags
  • treatable
Green 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 Green List (high evidence)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrotendinous xanthomatosis, MIM# 213700
Tags
Green Green List (high evidence)
CYP7B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bile acid synthesis defect, congenital, 3, MIM# 613812
Tags
Green Green List (high evidence)
CYP7B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 3, MIM# 613812
Tags
Green Green List (high evidence)
DCDC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sclerosing cholangitis, neonatal, MIM# 617394
Tags
Green Green List (high evidence)
DGUOK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
  • Portal hypertension, noncirrhotic, 1, MIM# 617068
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Tags
Green Green List (high evidence)
DGUOK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
  • Portal hypertension, noncirrhotic, 1, MIM# 617068
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Tags
Green Green List (high evidence)
DNAJB11
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease (618061)
  • Ivermark II syndrome
Tags
Green Green List (high evidence)
ERCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hepatorenal syndrome, MONDO:0001382, ERCC1-related
Tags
Green Green List (high evidence)
ERCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hepatorenal syndrome, MONDO:0001382, ERCC1-related
Tags
Green Green List (high evidence)
FAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tyrosinemia, type I, MIM#276700
Tags
  • treatable
Green Green List (high evidence)
FAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tyrosinaemia, type I, MIM# 276700
Tags
  • treatable
Green 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 Green List (high evidence)
FH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fumarase deficiency, MIM#606812
Tags
Green Green List (high evidence)
FOCAD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Liver disease, severe congenital, MIM# 619991
Tags
Green Green List (high evidence)
FOCAD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Liver disease, severe congenital, MIM# 619991
Tags
Green Green List (high evidence)
GALM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • type IV galactosaemia
Tags
Green Green List (high evidence)
GALT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Galactosaemia, MIM#230400
Tags
  • treatable
Green Green List (high evidence)
GALT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galactosemia, MIM# 230400
Tags
  • treatable
Green Green List (high evidence)
GANAB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 3 (600666)
Tags
Green Green List (high evidence)
GBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gaucher disease
Tags
  • new gene name
Green Green List (high evidence)
GBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease IV, MIM# 232500
Tags
Green Green List (high evidence)
GBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glycogen storage disease IV, MIM# 232500
Tags
Green Green List (high evidence)
GFM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 1, MIM# 609060
Tags
Green Green List (high evidence)
HADHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial trifunctional protein deficiency, MIM# 609015
Tags
  • treatable
Green Green List (high evidence)
HADHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Trifunctional protein deficiency, MIM# 609015
Tags
  • treatable
Green 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 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 Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal cysts and diabetes syndrome, MIM# 137920
Tags
Green Green List (high evidence)
HSD3B7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid synthesis defect, congenital, 1 MIM#607765
Tags
  • treatable
Green Green List (high evidence)
HSD3B7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bile acid synthesis defect, congenital, 1, MIM# 607765
Tags
Green Green List (high evidence)
IARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093
Tags
Green Green List (high evidence)
JAG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alagille syndrome, MIM# 118450
Tags
Green Green List (high evidence)
JAG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome, MIM#118450
Tags
Green Green List (high evidence)
KIF12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Tags
Green Green List (high evidence)
LARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
Green Green List (high evidence)
LIPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholesteryl ester storage disease, MIM# 278000
  • Wolman disease, MIM# 278000
Tags
  • treatable
Green Green List (high evidence)
LRP5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic liver disease 4 with or without kidney cysts (617875)
Tags
Green Green List (high evidence)
LSR
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Progressive familial intrahepatic cholestasis, MONDO:0015762, LSR-related
  • transient neonatal cholestasis
  • intellectual disability
  • short stature
Tags
Green Green List (high evidence)
MARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Interstitial lung and liver disease, MIM#615486
Tags
Green Green List (high evidence)
MED12
2 reviews
2 green 		Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hardikar syndrome, MIM# 301068
Tags
Green Green List (high evidence)
MPI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Ib, MIM# 602579
Tags
Green Green List (high evidence)
MPV17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Tags
Green Green List (high evidence)
MPV17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Tags
Green Green List (high evidence)
MYO5B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis
  • Microvillus inclusion disease, MIM#251850
Tags
Green Green List (high evidence)
NBAS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Infantile liver failure syndrome 2, MIM# 616483
Tags
Green Green List (high evidence)
NOTCH2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome 2 (MIM#610205)
Tags
Green Green List (high evidence)
NOTCH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alagille syndrome 2, MIM# 610205
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-Pick disease, MIM# 257220
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Niemann-Pick disease, MIM# 257220
Tags
Green Green List (high evidence)
NPC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-pick disease, type C2 MIM#607625
Tags
Green Green List (high evidence)
NPHP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Tags
Green Green List (high evidence)
NR1H4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
Tags
Green Green List (high evidence)
NR1H4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
Tags
Green 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 Green List (high evidence)
OTC
1 review
1 green 		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
  • Expert list
Phenotypes
  • Ornithine transcarbamylase deficiency, MIM# 311250
Tags
Green Green List (high evidence)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
Tags
Green Green List (high evidence)
PEX12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Tags
Green Green List (high evidence)
PEX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Tags
Green Green List (high evidence)
PEX26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Tags
Green Green List (high evidence)
PEX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Tags
Green Green List (high evidence)
PHKG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Glycogen storage disease IXc, MIM# 613027
Tags
Green Green List (high evidence)
PKD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Tags
Green Green List (high evidence)
PKD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Tags
Green Green List (high evidence)
PKHD1
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 4 with or without hepatic disease (263200)
Tags
Green Green List (high evidence)
PKHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Tags
Green Green List (high evidence)
POLG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Tags
Green 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 Green List (high evidence)
PRKCSH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic Liver Disease 1 with or without kidney cysts (174050)
Tags
Green Green List (high evidence)
PSKH1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 13, MIM# 620962
Tags
Green Green List (high evidence)
PYGL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease VI, MIM# 232700
Tags
Green Green List (high evidence)
RINT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Infantile liver failure syndrome 3, MIM# 618641
Tags
Green Green List (high evidence)
SCYL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
Tags
Green Green List (high evidence)
SEC63
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic Liver Disease 2 with or without kidney cysts (617004)
Tags
Green Green List (high evidence)
SERAC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Tags
Green Green List (high evidence)
SERPINA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Emphysema due to AAT deficiency, MIM#613490
  • Emphysema-cirrhosis, due to AAT deficiency, MIM#613490
  • Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490
  • alpha 1-antitrypsin deficiency, MONDO#0013282
Tags
Green Green List (high evidence)
SH2D1A
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Tags
Green Green List (high evidence)
SKIV2L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichohepatoenteric syndrome 2, MIM# 614602
  • Respiratory infections
  • IUGR
  • Facial dysmorphic features
  • Wooly hair
  • Early-onset intractable diarrhoea
  • Liver cirrhosis
  • Platelet abnormalities
Tags
Green Green List (high evidence)
SLC25A13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Citrullinemia, type II, neonatal-onset, MIM# 605814
Tags
Green Green List (high evidence)
SLC25A13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Citrullinemia, type II, neonatal-onset, MIM# 605814
Tags
Green Green List (high evidence)
SLC30A10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280
Tags
Green Green List (high evidence)
SLC37A4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation
Tags
Green 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 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 Green List (high evidence)
STN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Tags
Green Green List (high evidence)
TALDO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Transaldolase deficiency, MIM#606003
Tags
Green Green List (high evidence)
TALDO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Transaldolase deficiency, MIM# 606003
Tags
Green Green List (high evidence)
TJP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Tags
Green Green List (high evidence)
TJP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Tags
Green Green List (high evidence)
TRMU
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Liver failure, transient infantile, MIM# 613070
Tags
Green Green List (high evidence)
TTC26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534
  • Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Tags
Green Green List (high evidence)
TTC37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Trichohepatoenteric syndrome 1, MIM# 222470
Tags
Green Green List (high evidence)
TULP3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, MIM# 619902
Tags
Green 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 Green List (high evidence)
UGT1A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Crigler-Najjar syndrome, type I MIM#218800
  • Crigler-Najjar syndrome, type II MIM#606785
Tags
Green Green List (high evidence)
UNC45A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteootohepatoenteric syndrome, MIM# 619377
  • Cholestasis
  • Diarrhoea
  • Bone fragility
  • Impaired hearing
Tags
Green 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 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
Green Green List (high evidence)
USP53
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Tags
Green Green List (high evidence)
VIPAS39
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Tags
Green Green List (high evidence)
VPS50
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685
  • Neonatal cholestatic liver disease
  • Failure to thrive
  • Profound global developmental delay
  • Postnatal microcephaly
  • Seizures
  • Abnormality of the corpus callosum
Tags
Green Green List (high evidence)
WDR83OS
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016
Tags
Green Green List (high evidence)
ZFYVE19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cholestasis
Tags
Amber Amber List (moderate evidence)
ABCD3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Bile acid synthesis defect, congenital, 5 (MIM#616278)
Tags
Amber Amber List (moderate evidence)
ALG9
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Polycystic liver and kidney disease
Tags
Amber 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 Amber List (moderate evidence)
CFTR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystic fibrosis, MIM# 219700
Tags
Amber 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 Amber List (moderate evidence)
DHCR7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Smith-Lemli-Opitz syndrome, MIM# 270400
Tags
Amber 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
Amber Amber List (moderate evidence)
IARS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Tags
  • new gene name
Amber Amber List (moderate evidence)
LARS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
  • new gene name
Amber Amber List (moderate evidence)
LIPA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholesteryl ester storage disease, MIM# 278000
  • Wolman disease, MIM# 278000
Tags
Amber Amber List (moderate evidence)
MMP15
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cholestasis
  • Congenital heart disease
Tags
Amber Amber List (moderate evidence)
MPI
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ib, MIM# 602579
Tags
Amber Amber List (moderate evidence)
MRM2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 17, MIM# 618567
Tags
Amber Amber List (moderate evidence)
MTM1
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, centronuclear, X-linked, MIM# 310400
Tags
Amber Amber List (moderate evidence)
PEX14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Tags
Amber Amber List (moderate evidence)
PLEC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related
Tags
Amber Amber List (moderate evidence)
POLG2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM# 618528
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4 610131
Tags
Amber Amber List (moderate evidence)
SEC16B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Tags
Amber Amber List (moderate evidence)
SEC61B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Polycystic liver disease with or without renal cysts
Tags
Amber Amber List (moderate evidence)
SEMA7A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874
Tags
Amber Amber List (moderate evidence)
SLC10A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • bile acid malabsorption, primary, 1 MONDO:0013214
  • Disorders of bile acid metabolism
Tags
Amber Amber List (moderate evidence)
TFAM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Tags
Amber Amber List (moderate evidence)
TKFC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Triokinase and FMN cyclase deficiency syndrome, MIM#618805
  • Developmental delay
  • cataracts
  • liver dysfunction
Tags
Amber Amber List (moderate evidence)
TRMU
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Liver failure, transient infantile, MIM# 613070
Tags
Amber Amber List (moderate evidence)
YKT6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, YKT6-related
Tags
Red 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 Red List (low evidence)
ABCG5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Sitosterolemia 2, MIM# 618666
Tags
Red Red List (low evidence)
ABCG8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Sitosterolemia 1, MIM# 210250
Tags
Red Red List (low evidence)
ARG1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Argininemia, MIM# 207800
Tags
Red Red List (low evidence)
COQ2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, MIM#607426
Tags
Red Red List (low evidence)
CYC1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453
Tags
Red Red List (low evidence)
HADHA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • LCHAD deficiency, MIM# 609016
  • Mitochondrial trifunctional protein deficiency, MIM# 609015
Tags
Red Red List (low evidence)
HAMP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2B, MIM# 613313
Tags
Red 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 Red List (low evidence)
HFE
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, MIM# 235200
Tags
Red Red List (low evidence)
HFE2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2A, MIM# 602390
Tags
  • new gene name
Red Red List (low evidence)
IL18BP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • {?Hepatitis, fulminant viral, susceptibility to} 618549
Tags
Red Red List (low evidence)
INVS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 2, infantile, MIM# 602088
Tags
Red Red List (low evidence)
MKS1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 1, MIM# 249000
Tags
Red Red List (low evidence)
MVK
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Mevalonic aciduria, MIM# 610377
Tags
Red Red List (low evidence)
NPHP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 4 609583
  • Nephronophthisis 1, juvenile ,MIM# 256100
  • Senior-Loken syndrome-1 , MIM#266900
Tags
Red Red List (low evidence)
NPHP4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 4, MIM# 606966
  • Senior-Loken syndrome 4, MIM# 606996
Tags
Red Red List (low evidence)
PEX10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870
Tags
Red Red List (low evidence)
PEX11B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 14B, MIM# 614920
Tags
Red Red List (low evidence)
PEX13
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883
Tags
Red Red List (low evidence)
PEX16
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Tags
Red Red List (low evidence)
PEX19
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876
Tags
Red Red List (low evidence)
PEX3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886
Tags
Red Red List (low evidence)
PEX5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882
Tags
Red Red List (low evidence)
PEX7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110
Tags
Red Red List (low evidence)
POLG
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Tags
Red Red List (low evidence)
PPM1F
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • sclerosing cholangitis
  • short stature
  • hypothyroidism
  • abnormal tongue pigmentatio
Tags
Red Red List (low evidence)
PTF1A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pancreatic agenesis 2, MIM# 615935
Tags
Red Red List (low evidence)
SLC27A5
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorder of bile acid metabolism
Tags
Red Red List (low evidence)
SLC30A10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280
Tags
Red Red List (low evidence)
SLC40A1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 4, MIM# 606069
Tags
Red Red List (low evidence)
SLC51A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 6, MIM# 619484
Tags
Red Red List (low evidence)
SLC51B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bile acid malabsorption, primary, 2, MIM# 619481
  • Congenital diarrhoea
  • Cholestasis
Tags
Red Red List (low evidence)
SMPD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-Pick disease
Tags
Red Red List (low evidence)
TFR2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemochromatosis, type 3 (MIM#604250)
Tags
Red Red List (low evidence)
TMEM216
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 2, MIM# 603194
Tags

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