Description
Neonatal cholestasis eligibility inclusion criteria (from rare disease eligibility criteria v1.8.1)
- Neonatal cholestasis in which a known genetic disease has been excluded and in which a monogenic cause is considered likely by a specialist Liver Unit. 

Neonatal cholestasis eligibility exclusion criteria 
- Infective causes after excluding known genetic disease. 

Prior genetic testing guidance - Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 

- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. 

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out. Neonatal cholestasis eligibility prior genetic testing genes 

Closing statement These requirements will be kept under continual review during the main programme and may be subject to change.

11 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Jane Hartley (Birmingham Women and Children's Hospital)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

91 Entities

90 reviewed, 53 green

List Entity Reviews Mode of inheritance Details
91 Entitiess
Green Green List (high evidence)
ABCB11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis, benign recurrent intrahepatic, 2, 605479
  • Cholestasis, progressive familial intrahepatic 2, 601847
  • Cholestasis, Progressive Familial Intrahepatic 2
  • Familial Intrahepatic Cholestasis
  • PFIC2
Green Green List (high evidence)
ABCB4
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis, intrahepatic, of pregnancy, 3, 614972
  • Cholestasis, progressive familial intrahepatic 3, 602347
  • Cholestasis, Progressive Familial Intrahepatic 3
  • Familial Intrahepatic Cholestasis
  • Progressive Familial Intrahepatic Cholestasis
  • cholelithiasis
  • gallstones
  • modifier in other forms of genetic cholestasis
  • PFIC
  • PFIC3
Green Green List (high evidence)
ATP8B1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis, benign recurrent intrahepatic, 243300
  • Cholestasis, intrahepatic, of pregnancy, 1, 147480
  • Cholestasis, progressive familial intrahepatic 1, 211600
  • Cholestasis, Progressive Familial Intrahepatic 1
  • Familial Intrahepatic Cholestasis
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay
Green Green List (high evidence)
VPS33B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neonatal and Adult Cholestasis
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
  • Arthrogryposis, Renal Dysfunction, and Cholestasis 1
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
  • Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
  • ARC syndrome
  • arthrogryposis-renal-cholestasis syndrome
Green Green List (high evidence)
ABCC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dubin-Johnson syndrome, 237500
  • Cholestasis
  • intrahepatic cholestasis of pregnancy
  • modifier in biliary atresia
  • Dubin Johnson syndrome
Green Green List (high evidence)
ADK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency 614300
Tags
  • treatable
Green Green List (high evidence)
AKR1D1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Neonatal and Adult Cholestasis
  • Bile acid synthesis defect, congenital, 2
  • Bile acid synthesis defect, congenital, 2 235555
  • bile salt synthesis defect
  • cholestasis
  • fat soluble vitamin deficiency
  • liver failure
Green Green List (high evidence)
ALDOB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Fructose intolerance, hereditary
  • acute liver failure
Green Green List (high evidence)
ATP7B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wilson disease 277900
Green Green List (high evidence)
BAAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • Hypercholanemia, Familial
  • Hypercholanemia, familial, 607748
  • cholestasis
  • fat soluble vitamin deficiency
Green Green List (high evidence)
CC2D2A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • COACH syndrome 216360
  • Meckel syndrome 6 612284
  • Joubert syndrome 9 612285
Green Green List (high evidence)
CFTR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis
  • Cystic fibrosis, 219700
  • Pancreatitis, 167800
Green Green List (high evidence)
CLDN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626
  • ichthyosis-hypotrichosis-sclerosing cholangitis
  • NISCH syndrome
  • Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
Green Green List (high evidence)
COG7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIe 608779
Green Green List (high evidence)
CYP27A1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Severe neonatal cholestasis
  • Cerebrotendinous xanthomatosis, 213700
Green Green List (high evidence)
DCDC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • Neonatal sclerosis cholangitis
  • PFIC type 5
  • Sclerosing cholangitis, neonatal, 617394
Green Green List (high evidence)
DGUOK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Cholestasis
Green Green List (high evidence)
FAH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • Tyrosinaemia, Type 1, 276700
  • Cholestasis
Green Green List (high evidence)
GALT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galactosemia 230400
Green Green List (high evidence)
GBA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gaucher disease, perinatal lethal 608013
  • Gaucher disease, type I 230800
  • Gaucher disease, type II 230900
  • Gaucher disease, type III 231000
  • Gaucher disease, type IIIC 231005
Green Green List (high evidence)
GBE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease IV 232500
Green Green List (high evidence)
HADHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LCHAD deficiency 609016
Green Green List (high evidence)
HNF1B
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cholestasis
  • neonatal and adult onset jaundice and cholestasis
Green Green List (high evidence)
HSD3B7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
Phenotypes
  • Neonatal and Adult Cholestasis
  • Bile acid sythesis defect, congenital, 1 607765
Green Green List (high evidence)
INVS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 2, infantile 602088
Green Green List (high evidence)
JAG1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome
  • Neonatal and Adult Cholestasis
  • Alagille syndrome 1, 118450
Green Green List (high evidence)
LIPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • lysosomal acid lipase deficiency
  • cholestasis
  • Cholesteryl ester storage disease 278000
  • Wolman disease 278000
Green Green List (high evidence)
MPI
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ib 602579
Green Green List (high evidence)
MPV17
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810
  • cholestasis
  • liver failure
Green Green List (high evidence)
MVK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Mevalonic aciduria 610377
Green Green List (high evidence)
NOTCH2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Alagille syndrome 2
Green Green List (high evidence)
NPC1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
Phenotypes
  • Neonatal and Adult Cholestasis
  • Niemann-Pick disease type C1, 257220
  • Niemann-Pick disease, type D, 257220
Green Green List (high evidence)
NPC2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neonatal and Adult Cholestasis
  • Niemann-Pick disease type C2, 607625
Green Green List (high evidence)
NR1H4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis, progressive familial intrahepatic 5, 617049
  • Cholestasis, Progressive Familial Intrahepatic 5
  • modifier of other genetic cholestatic conditions
  • ciliopathy
Green Green List (high evidence)
PEX1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Peroxisome Biogenesis Disorder 1A (Zellweger), 214100
  • Zellweger syndrome
Green Green List (high evidence)
PEX10
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
  • Peroxisome biogenesis disorder 6B 614871
Green Green List (high evidence)
PEX12
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) 614859
  • Peroxisome biogenesis disorder 3B 266510
Green Green List (high evidence)
PEX13
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger) 614883
  • Peroxisome biogenesis disorder 11B 614885
Green Green List (high evidence)
PEX14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 13A (Zellweger) 614887
Tags
  • cnv
Green Green List (high evidence)
PEX16
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 8A (Zellweger) 614876
Green Green List (high evidence)
PEX19
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) 614886
Green Green List (high evidence)
PEX2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Peroxisome Biogenesis Disorder 5A (Zellweger), 614866
Green Green List (high evidence)
PEX26
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger)614872
Green Green List (high evidence)
PEX3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Green Green List (high evidence)
PEX6
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
Green Green List (high evidence)
POLG
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
Green Green List (high evidence)
SLC25A13
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neonatal and Adult Cholestasis
  • Citrullinemia type 2, neonatal onset
  • Citrullinemia type 2, adult onset
  • Citrullinemia, adult-onset type II 603471
  • Citrullinemia, type II, neonatal-onset 605814
  • CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY
  • NICCD
Green Green List (high evidence)
SMPD1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease, type A 257200
Green Green List (high evidence)
TALDO1
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Transaldolase deficiency, 606003
Green Green List (high evidence)
TJP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis, progressive familial intrahepatic 4, 615878
  • Cholestasis, Progressive Familial Intrahepatic 4
Green Green List (high evidence)
TRMU
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Liver failure, transient infantile 613070
Green Green List (high evidence)
UGT1A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neonatal and Adult Cholestasis
  • Crigler-Najjar syndrome, type I 218800
  • Crigler-Najjar syndrome, type II 606785
  • [Gilbert syndrome] 143500
  • unconjugated jaundice
Green Green List (high evidence)
VIPAS39
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Neonatal and Adult Cholestasis
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
  • Arthrogryposis, Renal Dysfunction, and Cholestasis 2
  • ARC syndrome
  • Arthrogryposis-renal-cholestasis syndrome
Amber Amber List (moderate evidence)
AMACR
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Neonatal and Adult Cholestasis
  • Bile acid synthesis defect, congenital, 4 214950
Amber Amber List (moderate evidence)
BCS1L
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • GRACILE syndrome
  • Cholestasis
Tags
  • watchlist
Amber Amber List (moderate evidence)
CYP7B1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Neonatal and Adult Cholestasis
  • Bile acid synthesis defect, congenital, 3
Amber Amber List (moderate evidence)
GNAS
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • McCune-Albright syndrome
  • Cholestasis
Amber Amber List (moderate evidence)
HAMP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Hemochromatosis, type 2B 613313
Amber Amber List (moderate evidence)
HFE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis 235200
Amber Amber List (moderate evidence)
HFE2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Hemochromatosis, type 2A 602390
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
IARS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 617093
Amber Amber List (moderate evidence)
MKS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 1 249000
Amber Amber List (moderate evidence)
NPHP3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Amber
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 208540
Amber Amber List (moderate evidence)
PKHD1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Amber
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease 263200
Tags
  • watchlist
Amber Amber List (moderate evidence)
TFR2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Hemochromatosis, type 3 604250
Amber Amber List (moderate evidence)
TMEM216
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Meckel syndrome 2 603194
Red Red List (low evidence)
ABCD3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Bile acid synthesis defect, congenital, 5 616278
Red Red List (low evidence)
ABCG5
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Sitosterolemia 210250
Red Red List (low evidence)
ABCG8
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Sitosterolemia 210250
  • intrahepatic cholestasis of pregnancy
Red Red List (low evidence)
ARG1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Argininemia 207800
Red Red List (low evidence)
CYP7A1
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
Red Red List (low evidence)
DHCR7
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Red Red List (low evidence)
EHHADH
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • ?Fanconi renotubular syndrome 3 615605
Red Red List (low evidence)
EPHX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • ?Hypercholanemia, Familial 607748
Red Red List (low evidence)
GPBAR1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Neonatal and Adult Cholestasis
Red Red List (low evidence)
HSD17B4
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Neonatal and Adult Cholestasis
  • D-bifunctional protein deficiency, 261515
  • peroxisomal bifunctional protein deficiency
Red Red List (low evidence)
MYO5B
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • MYO5B associated disease
  • Cholestasis
Red Red List (low evidence)
NPHP1
2 reviews
1 red
Not set
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • N/A
Red Red List (low evidence)
NPHP4
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Nephronophthisis 4 606966
  • Senior-Loken syndrome 4 606996
Red Red List (low evidence)
PEX11B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • ?Peroxisome biogenesis disorder 14B 614920
Red Red List (low evidence)
PEX5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
Red Red List (low evidence)
PEX7
1 review
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 9B 614879
  • Rhizomelic chondrodysplasia punctata, type 1 215100
Red Red List (low evidence)
SCP2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • ?Leukoencephalopathy with dystonia and motor neuropathy 613724
Red Red List (low evidence)
SERPINA1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Alpha-1 Antitrypsin Deficiency
Red Red List (low evidence)
SLC10A1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Sodium taurocholate cotransporting polypeptide deficiency
Red Red List (low evidence)
SLC10A2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Bile acid malabsorption, primary 613291
Red Red List (low evidence)
SLC27A5
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Neonatal and Adult Cholestasis
Red Red List (low evidence)
SLC30A10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermanganesemia with dystonia 1 613280
Red Red List (low evidence)
SLC40A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Hemochromatosis, type 4 606069
Red Red List (low evidence)
UTP4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • North American Indian Childhood Cirrhosis

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