Neonatal cholestasis (Version 1.26)

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.

Panel Activity

13 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
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

95 Entities

95 reviewed, 59 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 95 Entitiess
Green Green List (high evidence)	ABCB11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services 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 Tags
Green Green List (high evidence)	ABCB4	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services 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 Tags
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 Tags
Green Green List (high evidence)	ADK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services 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 Tags
Green Green List (high evidence)	ALDOB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Fructose intolerance, hereditary acute liver failure Tags
Green Green List (high evidence)	ATP7B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wilson disease 277900 Tags
Green Green List (high evidence)	ATP8B1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services 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 Tags
Green Green List (high evidence)	BAAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Hypercholanemia, Familial Hypercholanemia, familial, 607748 cholestasis fat soluble vitamin deficiency Tags
Green Green List (high evidence)	CC2D2A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes COACH syndrome 216360 Meckel syndrome 6 612284 Joubert syndrome 9 612285 Tags
Green Green List (high evidence)	CFTR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Cholestasis Cystic fibrosis, 219700 Pancreatitis, 167800 Tags
Green Green List (high evidence)	CLDN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN 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 Tags
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 Tags
Green Green List (high evidence)	CYP27A1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Severe neonatal cholestasis Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP7B1	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 3, 613812 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	DCDC2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Neonatal sclerosis cholangitis PFIC type 5 Sclerosing cholangitis, neonatal, 617394 Tags
Green Green List (high evidence)	DGUOK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Cholestasis Tags
Green Green List (high evidence)	FAH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Tyrosinaemia, Type 1, 276700 Cholestasis Tags
Green Green List (high evidence)	GALE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Galactose epimerase deficiency, OMIM:230350 MONDO:0009257 Tags
Green Green List (high evidence)	GALK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Galactokinase deficiency with cataracts, OMIM:230200 MONDO:0009255 Tags
Green Green List (high evidence)	GALM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Galactosemia IV, OMIM:618881 MONDO:0030105 Tags
Green Green List (high evidence)	GALT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galactosemia 230400 Tags
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 Tags new-gene-name
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, OMIM:232500 Tags
Green Green List (high evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LCHAD deficiency 609016 Tags
Green Green List (high evidence)	HNF1B	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis neonatal and adult onset jaundice and cholestasis Tags
Green Green List (high evidence)	HSD3B7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Bile acid sythesis defect, congenital, 1 607765 Tags
Green Green List (high evidence)	INVS	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis 2, infantile 602088 Tags
Green Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green 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 Tags
Green Green List (high evidence)	JAG1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Other UKGTN Victorian Clinical Genetics Services Phenotypes Alagille syndrome 1, OMIM:118450 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	LIPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis lysosomal acid lipase deficiency cholestasis Cholesteryl ester storage disease 278000 Wolman disease 278000 Tags
Green Green List (high evidence)	MPI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Tags
Green Green List (high evidence)	MPV17	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810 cholestasis liver failure Tags
Green Green List (high evidence)	MVK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria, OMIM:610377 Tags
Green Green List (high evidence)	NOTCH2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Alagille syndrome 2 Tags
Green Green List (high evidence)	NPC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Niemann-Pick disease type C1, 257220 Niemann-Pick disease, type D, 257220 Tags
Green Green List (high evidence)	NPC2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Niemann-Pick disease type C2, 607625 Tags
Green Green List (high evidence)	NR1H4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Cholestasis, progressive familial intrahepatic 5, 617049 Cholestasis, Progressive Familial Intrahepatic 5 modifier of other genetic cholestatic conditions ciliopathy Tags
Green Green List (high evidence)	PEX1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Peroxisome Biogenesis Disorder 1A (Zellweger), 214100 Zellweger syndrome Tags
Green Green List (high evidence)	PEX10	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871 Tags
Green Green List (high evidence)	PEX12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) 614859 Peroxisome biogenesis disorder 3B 266510 Tags
Green Green List (high evidence)	PEX13	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) 614883 Peroxisome biogenesis disorder 11B 614885 Tags
Green Green List (high evidence)	PEX14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 13A (Zellweger) 614887 Tags cnv
Green Green List (high evidence)	PEX16	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) 614876 Tags
Green Green List (high evidence)	PEX19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) 614886 Tags
Green Green List (high evidence)	PEX2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 Tags
Green Green List (high evidence)	PEX26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 7A (Zellweger)614872 Tags
Green Green List (high evidence)	PEX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green Green List (high evidence)	PEX6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 Tags
Green Green List (high evidence)	PKHD1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Polycystic kidney disease 4, with or without hepatic disease 263200 Tags
Green Green List (high evidence)	POLG	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Tags
Green Green List (high evidence)	SLC25A13	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green UKGTN 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 Tags
Green Green List (high evidence)	SMPD1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type A 257200 Tags
Green Green List (high evidence)	TALDO1	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Transaldolase deficiency, 606003 Tags
Green Green List (high evidence)	TJP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Cholestasis, progressive familial intrahepatic 4, 615878 Cholestasis, Progressive Familial Intrahepatic 4 Tags
Green Green List (high evidence)	TRMU	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Liver failure, transient infantile 613070 Tags
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 Tags
Green Green List (high evidence)	VIPAS39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 ARC syndrome Arthrogryposis-renal-cholestasis syndrome Tags
Green Green List (high evidence)	VPS33B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services 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 Tags
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 Tags
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)	GNAS	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes McCune-Albright syndrome Cholestasis Tags
Amber Amber List (moderate evidence)	HAMP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 2B 613313 Tags
Amber Amber List (moderate evidence)	HFE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hemochromatosis 235200 Tags
Amber Amber List (moderate evidence)	HFE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 2A 602390 Tags new-gene-name
Amber Amber List (moderate evidence)	IARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 617093 Tags new-gene-name
Amber Amber List (moderate evidence)	MKS1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Phenotypes Meckel syndrome 1 249000 Tags
Amber Amber List (moderate evidence)	NPHP3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Phenotypes Renal-hepatic-pancreatic dysplasia 208540 Tags
Amber Amber List (moderate evidence)	TFR2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 3 604250 Tags
Amber Amber List (moderate evidence)	TMEM216	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Meckel syndrome 2 603194 Tags
Red Red List (low evidence)	ABCD3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid synthesis defect, congenital, 5 616278 Tags
Red Red List (low evidence)	ABCG5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes Sitosterolemia 210250 Tags
Red Red List (low evidence)	ABCG8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes Sitosterolemia 210250 intrahepatic cholestasis of pregnancy Tags
Red Red List (low evidence)	ARG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Argininemia, OMIM:207800 Tags
Red Red List (low evidence)	CYP7A1	3 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Neonatal and Adult Cholestasis Tags
Red Red List (low evidence)	DHCR7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Red Red List (low evidence)	EHHADH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Red Phenotypes ?Fanconi renotubular syndrome 3 615605 Tags
Red Red List (low evidence)	EPHX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes ?Hypercholanemia, Familial 607748 Tags
Red Red List (low evidence)	GPBAR1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Neonatal and Adult Cholestasis Tags
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 Tags
Red Red List (low evidence)	MYO5B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Diarrhea 2, with microvillus atrophy, OMIM:251850 Tags
Red Red List (low evidence)	NPHP1	2 reviews 1 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes N/A Tags
Red Red List (low evidence)	NPHP4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephronophthisis 4 606966 Senior-Loken syndrome 4 606996 Tags
Red Red List (low evidence)	PEX11B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Peroxisome biogenesis disorder 14B 614920 Tags
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 Tags
Red Red List (low evidence)	PEX7	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 9B 614879 Rhizomelic chondrodysplasia punctata, type 1 215100 Tags
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 Tags
Red Red List (low evidence)	SERPINA1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red UKGTN Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Alpha-1 Antitrypsin Deficiency Tags
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 Tags
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 Tags
Red Red List (low evidence)	SLC27A5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes Neonatal and Adult Cholestasis Tags
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, OMIM:613280 Tags
Red Red List (low evidence)	SLC40A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hemochromatosis, type 4 606069 Tags
Red Red List (low evidence)	UTP4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes North American Indian Childhood Cirrhosis Tags
Red Red List (low evidence)	WDR83OS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Cholestasis Tags

Major version comments

2018-09-03 11:44 Sarah Leigh (Genomics England Curator) promoted panel to 1.0
This panel has been subjected to extensive internal and external review.

Neonatal cholestasis (Version 1.26)

13 reviewers

95 Entities

95 reviewed, 59 green

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