Cholestasis (Version 3.4)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R171 Cholestasis' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R171 Cholestasis'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Panel Activity

19 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
Miranda Durkie (Genetics)

Group: GeCIP domain
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
Bill Griffiths (Cambridge University Hospitals)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Jane Hartley (Birmingham Women and Children's Hospital)

Group: Other NHS organisation
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other 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
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

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

Group: Other
Workplace: Other
Alison Bybee (King's College London)

Group: Other NHS organisation
Workplace: Other diagnostic lab

78 Entities

78 reviewed, 58 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 78 Entitiess
Green Green List (high evidence)	ABCB11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Familial Intrahepatic Cholestasis Cholestasis, progressive familial intrahepatic 2, 601847 Cholestasis, Progressive Familial Intrahepatic 2 PFIC2 Cholestasis, benign recurrent intrahepatic, 2, 605479 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	ABCB4	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Progressive Familial Intrahepatic Cholestasis modifier in other forms of genetic cholestasis Familial Intrahepatic Cholestasis gallstones cholelithiasis PFIC PFIC3 Cholestasis, progressive familial intrahepatic 3, 602347 Cholestasis, intrahepatic, of pregnancy, 3, 614972 Neonatal and Adult Cholestasis Cholestasis, Progressive Familial Intrahepatic 3 Tags
Green Green List (high evidence)	ABCC2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes modifier in biliary atresia Dubin Johnson syndrome Cholestasis intrahepatic cholestasis of pregnancy Dubin-Johnson syndrome, 237500 Tags
Green Green List (high evidence)	ADK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypermethioninemia due to adenosine kinase deficiency, OMIM:614300, MONDO:0013676 Tags
Green Green List (high evidence)	AKR1D1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Other UKGTN Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 2 235555 fat soluble vitamin deficiency liver failure bile salt synthesis defect Bile acid synthesis defect, congenital, 2 Neonatal and Adult Cholestasis cholestasis Tags
Green Green List (high evidence)	ALDOB	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Other UKGTN Victorian Clinical Genetics Services Phenotypes acute liver failure Neonatal and Adult Cholestasis Fructose intolerance, hereditary Tags
Green Green List (high evidence)	AMACR	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Neonatal and Adult Cholestasis Bile acid synthesis defect, congenital, 4 214950 Tags
Green Green List (high evidence)	ATP7B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Wilson disease, 277900 Tags
Green Green List (high evidence)	ATP8B1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Familial Intrahepatic Cholestasis Cholestasis, intrahepatic, of pregnancy, 1, 147480 Cholestasis, Progressive Familial Intrahepatic 1 Cholestasis, benign recurrent intrahepatic, 243300 Cholestasis, progressive familial intrahepatic 1, 211600 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	BAAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Hypercholanemia, Familial fat soluble vitamin deficiency Hypercholanemia, familial, 607748 cholestasis Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	BCS1L	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Phenotypes Cholestasis GRACILE syndrome Tags
Green Green List (high evidence)	CFTR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cholestasis Neonatal and Adult Cholestasis Cystic fibrosis, OMIM:219700, MONDO:0009061 {Pancreatitis, hereditary}, OMIM:167800 Tags
Green Green List (high evidence)	CLDN1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes ichthyosis-hypotrichosis-sclerosing cholangitis Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626 Neonatal and Adult Cholestasis NISCH syndrome Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome Tags
Green Green List (high evidence)	COG7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIe , 608779 Tags
Green Green List (high evidence)	CYP27A1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Other UKGTN Victorian Clinical Genetics Services Phenotypes Severe neonatal cholestasis Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP7B1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Other UKGTN Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 3, 613812 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	DCDC2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Other Victorian Clinical Genetics Services Phenotypes Sclerosing cholangitis, neonatal, 617394 PFIC type 5 Neonatal sclerosis cholangitis Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	DGUOK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Tags
Green Green List (high evidence)	FAH	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neonatal and Adult Cholestasis Tyrosinaemia, Type 1, 276700 Cholestasis Tags
Green Green List (high evidence)	GALE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Galactose epimerase deficiency, OMIM:230350 MONDO:0009257 Tags
Green Green List (high evidence)	GALM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galactosemia IV, OMIM:618881 MONDO:0030105 Tags
Green Green List (high evidence)	GALT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Galactosemia, OMIM:230400 MONDO:0018116 Tags
Green Green List (high evidence)	GBA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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)	HADHA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes LCHAD deficiency, OMIM:609016, MONDO:0012173 Tags
Green Green List (high evidence)	HNF1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Renal cysts and diabetes syndrome, 137920 Tags
Green Green List (high evidence)	HSD3B7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Bile acid sythesis defect, congenital, 1 607765 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	JAG1	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Alagille syndrome 1, OMIM:118450 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	KIF12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis High Gamma-Glutamyltransferase (GGT) Tags
Green Green List (high evidence)	LIPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes lysosomal acid lipase deficiency Wolman disease, OMIM:278000, MONDO:0019148 Cholesteryl ester storage disease, OMIM:278000, MONDO:0019149 Neonatal and Adult Cholestasis cholestasis Tags
Green Green List (high evidence)	MPI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Tags
Green Green List (high evidence)	MPV17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags
Green Green List (high evidence)	MVK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mevalonic aciduria, OMIM:610377 Tags
Green Green List (high evidence)	MYO5B	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Diarrhea 2, with microvillus atrophy, OMIM:251850 Tags
Green Green List (high evidence)	NBAS	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 2, OMIM:616483 Tags
Green Green List (high evidence)	NOTCH2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Alagille syndrome 2 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	NPC1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Niemann-Pick disease, type D, 257220 Niemann-Pick disease type C1, 257220 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	NPC2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Neonatal and Adult Cholestasis Niemann-Pick disease type C2, 607625 Tags
Green Green List (high evidence)	NR1H4	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes ciliopathy Cholestasis, Progressive Familial Intrahepatic 5 modifier of other genetic cholestatic conditions Neonatal and Adult Cholestasis Cholestasis, progressive familial intrahepatic 5, 617049 Tags
Green Green List (high evidence)	PEX1	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100 Zellweger syndrome Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	PEX12	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Peroxisome biogenesis disorder 3B 266510 Peroxisome biogenesis disorder 3A (Zellweger) 614859 Tags
Green Green List (high evidence)	PEX26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Peroxisome biogenesis disorder 7A (Zellweger)614872 Tags
Green Green List (high evidence)	PEX6	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 Tags
Green Green List (high evidence)	PKHD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200 MONDO:0044327 Tags
Green Green List (high evidence)	POLG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758 Tags
Green Green List (high evidence)	RINT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 3 OMIM:618641 infantile liver failure syndrome 3 MONDO:0032844 Tags
Green Green List (high evidence)	SERPINA1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Alpha-1 Antitrypsin Deficiency Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	SLC25A13	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY NICCD Citrullinemia type 2, neonatal onset Citrullinemia type 2, adult onset Citrullinemia, adult-onset type II 603471 Citrullinemia, type II, neonatal-onset 605814 Neonatal and Adult Cholestasis Tags
Green Green List (high evidence)	SMPD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Niemann-Pick disease, type A, OMIM:257200, MONDO:0009756 Tags
Green Green List (high evidence)	TALDO1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Transaldolase deficiency, 606003 Tags
Green Green List (high evidence)	TJP2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Cholestasis, Progressive Familial Intrahepatic 4 Neonatal and Adult Cholestasis Cholestasis, progressive familial intrahepatic 4, 615878 Tags
Green Green List (high evidence)	TRMU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Liver failure, transient infantile, OMIM:613070 Tags
Green Green List (high evidence)	UGT1A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes [Gilbert syndrome] 143500 Crigler-Najjar syndrome, type I 218800 Neonatal and Adult Cholestasis Crigler-Najjar syndrome, type II 606785 unconjugated jaundice Tags
Green Green List (high evidence)	UNC45A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cholestasis Diarrhoea Bone fragility Impaired hearing Tags
Green Green List (high evidence)	USP53	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Paediatric cholestatic liver disease Cholestasis deafness Tags
Green Green List (high evidence)	VIPAS39	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Arthrogryposis, Renal Dysfunction, and Cholestasis 2 ARC syndrome Arthrogryposis-renal-cholestasis syndrome Neonatal and Adult Cholestasis Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 Tags
Green Green List (high evidence)	VPS33B	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes arthrogryposis-renal-cholestasis syndrome Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome ARC syndrome Neonatal and Adult Cholestasis Arthrogryposis, Renal Dysfunction, And Cholestasis 1 Tags
Green Green List (high evidence)	YARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C 608323 Intellectual disability deafness nystagmus liver dysfunction Tags new-gene-name
Green Green List (high evidence)	ZFYVE19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis, progressive familial intrahepatic, 9, OMIM:619849 Tags gene-checked
Amber Amber List (moderate evidence)	FARSA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 Tags watchlist
Amber Amber List (moderate evidence)	FARSB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rajab interstitial lung disease with brain calcifications, 613658 Tags
Amber Amber List (moderate evidence)	GBE1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Amber Amber List (moderate evidence)	GNAS	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Other Phenotypes McCune-Albright syndrome Cholestasis Tags
Amber Amber List (moderate evidence)	IARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 Tags new-gene-name
Amber Amber List (moderate evidence)	LSR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes transient neonatal cholestasis intellectual disability short stature Tags watchlist
Amber Amber List (moderate evidence)	MMP15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cholestasis, MONDO:0001751 congenital heart disease, MONDO:0005453 Tags watchlist
Amber Amber List (moderate evidence)	NPHP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Renal-hepatic-pancreatic dysplasia 1, 208540 Tags
Amber Amber List (moderate evidence)	PEX14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Amber Amber List (moderate evidence)	PEX2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Other Phenotypes Neonatal and Adult Cholestasis Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 Tags
Amber Amber List (moderate evidence)	VPS50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Red Red List (low evidence)	AP1S1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Non-syndromic congenital intestinal failure MEDNIK syndrome, OMIM:609313 Tags
Red Red List (low evidence)	CYP7A1	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Other Phenotypes Bile acid synthesis defect, congenital, 3 Neonatal and Adult Cholestasis Tags
Red Red List (low evidence)	GALK1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Phenotypes Galactokinase deficiency with cataracts, OMIM:230200 MONDO:0009255 Edit Tags
Red Red List (low evidence)	PPM1F	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes sclerosing cholangitis short stature hypothyroidism abnormal tongue pigmentation Tags
Red Red List (low evidence)	SLC51A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Cholestasis, progressive familial intrahepatic, 6, OMIM:619484 Tags
Red Red List (low evidence)	WDR83OS	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cholestasis Tags
No list No list	CC2D2A	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed NHS GMS Other Phenotypes COACH syndrome 216360 Meckel syndrome 6 612284 Joubert syndrome 9 612285 Congenital hepatic fibrosis Ciliopathy Tags curated_removed
No list No list	RPGRIP1L	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 5 (611561) Joubert syndrome 7 (611560) COACH syndrome (216360) Congenital hepatic fibrosis Tags curated_removed
No list No list	TMEM67	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Removed Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes COACH syndrome (216360) {Bardet-Biedl syndrome 14, modifier of} (615991) Nephronophthisis 11 (613550) Meckel syndrome 3 (607361) Joubert syndrome 6 (310688) congenital hepatic fibrosis Tags curated_removed

Major version comments

2023-03-22 17:15 Sarah Leigh (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:50 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-09-04 09:18 Ivone Leong (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.24) was signed off under NHS Genomic Medicine Service governance on (04/09/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Cholestasis (Version 3.4)

19 reviewers

78 Entities

78 reviewed, 58 green

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