PanelApp (stage)
  1. Panels
  2. Liver Failure_Paediatric
Description
This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.

Please also consider using the Cholestasis panel if clinically indicated.
Panel Activity

5 reviewers

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Rylee Peters (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Suliman Khan (Victorian Clinical Genetics Services)

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

66 Entities

66 reviewed, 55 green

List Entity Reviews Mode of inheritance Details
66 Entitiess
Green Green List (high evidence)
ABCB11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 2, MIM# 601847
Tags
Green Green List (high evidence)
ABCB4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3, MIM# 602347
Tags
Green Green List (high evidence)
ACADM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Tags
  • treatable
Green Green List (high evidence)
AKR1D1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 2, MIM# 235555
Tags
  • treatable
Green Green List (high evidence)
ALDOB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fructose intolerance, hereditary, MIM# 229600
Tags
  • treatable
Green Green List (high evidence)
ALMS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alstrom syndrome, MIM# 203800
Tags
Green Green List (high evidence)
AMACR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 4, MIM# 214950
Tags
Green Green List (high evidence)
ATP6AP1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Wilson disease, MIM#277900
Tags
Green Green List (high evidence)
ATP8B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1, MIM# 211600
Tags
Green Green List (high evidence)
BCS1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • GRACILE syndrome, MIM# 603358
  • Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400
Tags
Green Green List (high evidence)
CCDC115
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIo, MIM# 616828
Tags
Green Green List (high evidence)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • CPT II deficiency, infantile, MIM# 600649
Tags
  • treatable
Green Green List (high evidence)
CYP7B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bile acid synthesis defect, congenital, 3, MIM# 613812
Tags
Green Green List (high evidence)
DGUOK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880
Tags
Green Green List (high evidence)
FAH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type I, MIM#276700
Tags
  • treatable
Green Green List (high evidence)
FH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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)
GALT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Galactosaemia, MIM#230400
Tags
  • treatable
Green Green List (high evidence)
GBE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IV, MIM# 232500
Tags
Green Green List (high evidence)
GFM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Trifunctional protein deficiency, MIM# 609015
Tags
  • treatable
Green Green List (high evidence)
HSD3B7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Alagille syndrome, MIM# 118450
Tags
Green Green List (high evidence)
LARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Cholesteryl ester storage disease, MIM# 278000
  • Wolman disease, MIM# 278000
Tags
  • treatable
Green Green List (high evidence)
MARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Tags
Green Green List (high evidence)
NBAS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Infantile liver failure syndrome 2, MIM# 616483
Tags
Green Green List (high evidence)
NOTCH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alagille syndrome 2, MIM# 610205
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease, MIM# 257220
Tags
Green Green List (high evidence)
NR1H4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
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 list
  • Expert Review Green
Phenotypes
  • Ornithine transcarbamylase deficiency, MIM# 311250
Tags
Green Green List (high evidence)
PHKG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IXc, MIM# 613027
Tags
Green Green List (high evidence)
POLG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
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 list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
Tags
Green Green List (high evidence)
SERAC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Tags
Green Green List (high evidence)
SH2D1A
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
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 list
  • Expert Review Green
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)
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 list
  • Expert Review Green
Phenotypes
  • Transaldolase deficiency, MIM#606003
Tags
Green Green List (high evidence)
TJP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Liver failure, transient infantile, MIM# 613070
Tags
Green Green List (high evidence)
TTC37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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
Amber Amber List (moderate evidence)
ABCD3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Bile acid synthesis defect, congenital, 5 (MIM#616278)
Tags
Amber Amber List (moderate evidence)
MRM2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
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)
POLG2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
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)
TFAM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
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 list
  • Expert Review Amber
Phenotypes
  • Triokinase and FMN cyclase deficiency syndrome, MIM#618805
  • Developmental delay
  • cataracts
  • liver dysfunction
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)
COQ2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
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 list
  • Expert Review Red
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453
Tags
Red Red List (low evidence)
IL18BP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • {?Hepatitis, fulminant viral, susceptibility to} 618549
Tags
Red Red List (low evidence)
PTF1A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Pancreatic agenesis 2, MIM# 615935
Tags

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