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Cholestasis v3.19 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200; MONDO:0044327 to Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200
Cholestasis v3.18 SCYL1 Eleanor Williams Classified gene: SCYL1 as Amber List (moderate evidence)
Cholestasis v3.18 SCYL1 Eleanor Williams Gene: scyl1 has been classified as Amber List (Moderate Evidence).
Cholestasis v3.17 SCYL1 Eleanor Williams Tag Q1_26_NHS_review tag was added to gene: SCYL1.
Cholestasis v3.16 SCYL1 Ida Ertmanska commented on gene: SCYL1: Comment on list classification: As reviewed by Karen Stals, biallelic mutations in SCYL1 were reported in at least 7 pedigrees where affected individuals presented with acute liver failure with onset in infancy / early childhood. Based on available evidence, this gene should be promoted to Green for Cholestasis.
Cholestasis v3.16 SCYL1 Ida Ertmanska Phenotypes for gene: SCYL1 were changed from Liver failure; cholestasis; ataxia; peripheral neuropathy; cerebellar atrophy to cholestasis, MONDO:0001751; acute liver failure, MONDO:0019542; Spinocerebellar ataxia, autosomal recessive 21, OMIM:616719
Cholestasis v3.15 SCYL1 Ida Ertmanska Publications for gene: SCYL1 were set to PMID: 30842961; PMID: 33442927; PMID: 30842961; PMID: 29419818
Cholestasis v3.14 SCYL1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: SCYL1.
Cholestasis v3.14 SCYL1 Ida Ertmanska reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29419818, 30842961, 33442927; Phenotypes: cholestasis, MONDO:0001751, acute liver failure, MONDO:0019542, Spinocerebellar ataxia, autosomal recessive 21, OMIM:616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v3.14 SCYL1 Karen Stals changed review comment from: Multiple patients reported with biallelic variants in SCYL1, early presentation of liver failure and cholestasis in infancy(episodes may resolve), with later development of a neurological phenotype.
Sources: Literature; to: Multiple patients reported with biallelic variants in SCYL1, early presentation of liver failure and cholestasis in infancy (episodes may resolve), with later development of a neurological phenotype.
Sources: Literature
Cholestasis v3.14 SCYL1 Karen Stals gene: SCYL1 was added
gene: SCYL1 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL1 were set to PMID: 30842961; PMID: 33442927; PMID: 30842961; PMID: 29419818
Phenotypes for gene: SCYL1 were set to Liver failure; cholestasis; ataxia; peripheral neuropathy; cerebellar atrophy
Penetrance for gene: SCYL1 were set to Complete
Review for gene: SCYL1 was set to GREEN
gene: SCYL1 was marked as current diagnostic
Added comment: Multiple patients reported with biallelic variants in SCYL1, early presentation of liver failure and cholestasis in infancy(episodes may resolve), with later development of a neurological phenotype.
Sources: Literature
Cholestasis v3.14 PSKH1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PSKH1.
Cholestasis v3.14 RINT1 Achchuthan Shanmugasundram Tag Q2_25_ demote_red was removed from gene: RINT1.
Tag Q2_25_expert_review was removed from gene: RINT1.
Cholestasis v3.14 RINT1 Achchuthan Shanmugasundram edited their review of gene: RINT1: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.; Changed rating: RED
Cholestasis v3.14 PSKH1 Achchuthan Shanmugasundram commented on gene: PSKH1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Cholestasis v3.13 RINT1 Achchuthan Shanmugasundram Source NHS GMS was added to RINT1.
Source Expert Review Red was added to RINT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cholestasis v3.13 PSKH1 Achchuthan Shanmugasundram Source NHS GMS was added to PSKH1.
Source Expert Review Green was added to PSKH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v3.12 UNC45A Arina Puzriakova Publications for gene: UNC45A were set to 29429573
Cholestasis v3.11 UNC45A Arina Puzriakova Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, OMIM:619377; Aagenaes syndrome, MONDO:0008966
Cholestasis v3.10 UNC45A Ida Ertmanska changed review comment from: UNC45A has been linked to Aagenaes syndrome - a condition characterized by neonatal cholestasis, lymphedema, and giant cell hepatitis. There are at least 28 affected individuals from 25 different families who presented with neonatal cholestasis and lymphedema (PMIDs:37328071;39887522). Based on the reported evidence, this gene should be rated Green for Cholestasis.

PMID: 37328071 Almaas et al., 2023
26 patients with Aagenaes syndrome from 24 different families. 19 individuals homozygous for c.-98G>T (5' UTR region) in UNC45A & 7 individuals compound heterozygous for c.-98G>T (no homozygotes reported in gnomAD v4) and an exonic loss-of-function variant in UNC45A: c.1101delC, p.Lys368Serfs*53; c.1572_1573insAT, p.Asp525Metfs*16; c.1646_1647delTT, p.Phe549Cysfs*37; c.2028+1G>A (intron 18); c.2590C>T, p.Gln864*.
Method: WGS + Sanger in first family, Sanger seq in subsequent patients. Tested unaffected parents were heterozygous for either the 5'UTR c.-98G>T variant, or an exonic variant.
Phenotype: 26/26 patients presented with cholestasis in infancy and childhood. All patients, except two young infants, had lymphedema of the lower limbs (age of onset: birth - 15 years); 19/26 also had lymphedema of the upper limbs.

Confirmed lower expression of UNC45A mRNA and protein in mutant HEK293T cells than controls.
Levels of expression of UNC45A mRNA from whole blood (relative to WT controls): 50% for patients homozygous for c.-98G>T; 37% in compound heterozygotes; 79% in parents het for c.-98G>T; 50% in parents het for exonic LoF variants.
Similar trend seen in protein levels: 50% of control UNC45A levels in homozygotes, and 17% of control residual blood protein in compound hets.

PMID: 39887522 Tan et al., 2025
Two siblings, compound het for c.-88G>A and c.1591C>T, p.(Arg531Ter) in UNC45A. Method: WES
Phenotype: both siblings presented with neonatal cholestasis and lymphedema; one sibling developed severe liver failure.

This gene is associated with Osteootohepatoenteric syndrome, 619377 in OMIM - hypothesised to be a separate disease entity, characterised by bone fragility, hearing loss, cholestasis, and congenital diarrhea (PMID: 29429573 Esteve et al., 2018).; to: UNC45A has been linked to Aagenaes syndrome - a condition characterized by neonatal cholestasis, lymphedema, and giant cell hepatitis. There are at least 28 affected individuals from 25 different families who presented with neonatal cholestasis and lymphedema (PMIDs:37328071;39887522). Based on the reported evidence, this gene should be rated Green for Cholestasis.

PMID: 37328071 Almaas et al., 2023
26 patients with Aagenaes syndrome from 24 different families. 19 individuals homozygous for c.-98G>T (5' UTR region) in UNC45A & 7 individuals compound heterozygous for c.-98G>T (no homozygotes reported in gnomAD v4) and an exonic loss-of-function variant in UNC45A: c.1101delC, p.Lys368Serfs*53; c.1572_1573insAT, p.Asp525Metfs*16; c.1646_1647delTT, p.Phe549Cysfs*37; c.2028+1G>A (intron 18); c.2590C>T, p.Gln864*.
Method: WGS + Sanger in first family, Sanger seq in subsequent patients. Tested unaffected parents were heterozygous for either the 5'UTR c.-98G>T variant, or an exonic variant.
Phenotype: 26/26 patients presented with cholestasis in infancy and childhood. All patients, except two young infants, had lymphedema of the lower limbs (age of onset: birth - 15 years); 19/26 also had lymphedema of the upper limbs.

Confirmed lower expression of UNC45A mRNA and protein in mutant HEK293T cells than controls.
Levels of expression of UNC45A mRNA from whole blood (relative to WT controls): 50% for patients homozygous for c.-98G>T; 37% in compound heterozygotes; 79% in parents het for c.-98G>T; 50% in parents het for exonic LoF variants.
Similar trend seen in protein levels: 50% of control UNC45A levels in homozygotes, and 17% of control residual blood protein in compound hets.

PMID: 39887522 Tan et al., 2025
Two siblings, compound het for c.-88G>A and c.1591C>T, p.(Arg531Ter) in UNC45A. Method: WES
Phenotype: both siblings presented with neonatal cholestasis and lymphedema; one sibling developed severe liver failure.

This gene is associated with Osteootohepatoenteric syndrome, 619377 in OMIM (accessed 10th Oct 2025) - hypothesised to be a separate disease entity, characterised by bone fragility, hearing loss, cholestasis, and congenital diarrhea (PMID: 29429573 Esteve et al., 2018).
Cholestasis v3.10 UNC45A Ida Ertmanska reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37328071, 39887522; Phenotypes: Osteootohepatoenteric syndrome, OMIM:619377, Aagenaes syndrome, MONDO:0008966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v3.10 ERCC1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

PMID: 40684071 - liver dysfunction was reported in all affected individuals with ERCC1-hepatorenal syndrome, with three children requiring liver transplants.

Progressive cholestatic liver disease was found in 3 individuals (PV50LD, PV46LD, XE28CH). Individual CA16LD also developed neonatal cholestasis which resolved, and XE1AH developed liver disease later than others in the cohort but showed signs suggestive of chronic cholestatic disease.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - liver dysfunction was reported in all affected individuals with ERCC1-hepatorenal syndrome, with three children requiring liver transplants.

Progressive cholestatic liver disease was found in 3 individuals (PV50LD, PV46LD, XE28CH). Individual CA16LD also developed neonatal cholestasis which resolved, and XE1AH developed liver disease later than others in the cohort but showed signs suggestive of chronic cholestatic disease (PMID: 40684071)
Cholestasis v3.10 ERCC1 Arina Puzriakova Classified gene: ERCC1 as Amber List (moderate evidence)
Cholestasis v3.10 ERCC1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

PMID: 40684071 - liver dysfunction was reported in all affected individuals with ERCC1-hepatorenal syndrome, with three children requiring liver transplants.

Progressive cholestatic liver disease was found in 3 individuals (PV50LD, PV46LD, XE28CH). Individual CA16LD also developed neonatal cholestasis which resolved, and XE1AH developed liver disease later than others in the cohort but showed signs suggestive of chronic cholestatic disease.
Cholestasis v3.10 ERCC1 Arina Puzriakova Gene: ercc1 has been classified as Amber List (Moderate Evidence).
Cholestasis v3.9 ERCC1 Arina Puzriakova gene: ERCC1 was added
gene: ERCC1 was added to Cholestasis. Sources: Literature
Q3_25_promote_green tags were added to gene: ERCC1.
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC1 were set to 40684071
Phenotypes for gene: ERCC1 were set to hepatorenal syndrome, MONDO:0001382
Review for gene: ERCC1 was set to GREEN
Added comment: ERCC1 is associated with a spectrum of DNA repair disorders from severe neonatal conditions (Cerebrooculofacioskeletal syndrome 4, OMIM:610758) to multisystem disorders (Xeroderma Pigmentosum) that can extend into adolescence and early adulthood.

A recent study (PMID: 40684071) identified seven individuals from five families carrying biallelic ERCC1 variants, who exhibited a distinct clinical phenotype including growth restriction, photosensitivity, and kidney and liver dysfunction. Hepatocellular carcinoma developed in four children, resulting in death in two. Older individuals exhibited additional features, including ataxia, basal cell carcinomas, pancreatic insufficiency, ovarian failure, hypothyroidism, and restrictive lung disease. Most reported individuals have c.466ā€‰Cā€‰>ā€‰T (p.Arg156Trp) on at least one allele, often with a LOF variant in trans. Functional assays using patient-derived fibroblasts demonstrated significant destabilisation of the ERCC1-XPF complex and defects in NER and ICL repair.
Sources: Literature
Cholestasis v3.8 PSKH1 Arina Puzriakova Phenotypes for gene: PSKH1 were changed from hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, OMIM:620962
Cholestasis v3.7 RINT1 Achchuthan Shanmugasundram Tag Q2_25_ demote_amber was removed from gene: RINT1.
Tag Q2_25_ demote_red tag was added to gene: RINT1.
Cholestasis v3.7 RINT1 Achchuthan Shanmugasundram Tag Q2_25_ demote_red was removed from gene: RINT1.
Tag Q2_25_ demote_amber tag was added to gene: RINT1.
Cholestasis v3.7 RINT1 Achchuthan Shanmugasundram Tag Q2_25_ demote_red tag was added to gene: RINT1.
Tag Q2_25_expert_review tag was added to gene: RINT1.
Cholestasis v3.7 RINT1 Achchuthan Shanmugasundram changed review comment from: As reviewed previously, PMID:31204009 reported three unrelated individuals with compound heterozygous RINT1 variants and infantile acute liver failure (MIM #618641). However, focal cholestasis was only reported in one patient (proband 3), while jaundice was reported in a different patient (proband 1). Increased bilirubin levels are reported in all three patients. There is also functional evidence on patient dermal fibroblasts available for the splice-variant that was identified in all three patients.

PMID:37463447 reported three individuals from two unrelated families with novel biallelic RINT1 loss-of-function variants and they presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, dysmorphic features and neurodevelopmental delay, expanding the phenotypic spectrum of the disorder. Although acute liver failure or episodic liver dysfunction are reported in these cases, cholestasis or hyperbilirubinaemia are not reported.

PMID:39186236 also reported a patient withy acute liver failure due to RINT1 deficiency, however without any reports of cholestasis or hyperbilirubinaemia.

As per the National Genomic Test Directory (https://www.england.nhs.uk/publication/national-genomic-test-directories/), this panel includes both cholestasis and hyperbilirubinaemia.

As Zornitza Stark has reviewed this gene red on this panel based on the phenotype being acute liver failure, clinical opinion is sought on whether this gene can remain green on this panel.; to: As reviewed previously, PMID:31204009 reported three unrelated individuals with compound heterozygous RINT1 variants and infantile acute liver failure (MIM #618641). However, focal cholestasis was only reported in one patient (proband 3), while jaundice was reported in a different patient (proband 1). Increased bilirubin levels are reported in all three patients. There is also functional evidence on patient dermal fibroblasts available for the splice-variant that was identified in all three patients.

PMID:37463447 reported three individuals from two unrelated families with novel biallelic RINT1 loss-of-function variants and they presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, dysmorphic features and neurodevelopmental delay, expanding the phenotypic spectrum of the disorder. Although acute liver failure or episodic liver dysfunction are reported in these cases, cholestasis or hyperbilirubinaemia are not reported.

PMID:39186236 also reported a patient withy acute liver failure due to RINT1 deficiency, however without any reports of cholestasis or hyperbilirubinaemia.

As per the National Genomic Test Directory (https://www.england.nhs.uk/publication/national-genomic-test-directories/), this panel includes neonatal conjugated hyperbilirubinaemia, unexplained cholestasis or cholestasis of pregnancy-onset.

As Zornitza Stark has reviewed this gene red on this panel based on the phenotype being acute liver failure, clinical opinion is sought on whether this gene can remain green on this panel.
Cholestasis v3.7 RINT1 Achchuthan Shanmugasundram changed review comment from: As reviewed previously, PMID:31204009 reported three unrelated individuals with compound heterozygous RNT1 variants and infantile acute liver failure (MIM #618641). However, focal cholestasis was only reported in one patient (proband 3), while jaundice was reported in a different patient (proband 1). Increased bilirubin levels are reported in all three patients. There is also functional evidence on patient dermal fibroblasts available for the splice-variant that was identified in all three patients.

PMID:37463447 reported three individuals from two unrelated families with novel biallelic RINT1 loss-of-function variants and they presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, dysmorphic features and neurodevelopmental delay, expanding the phenotypic spectrum of the disorder. Although acute liver failure or episodic liver dysfunction are reported in these cases, cholestasis or hyperbilirubinaemia are not reported.

PMID:39186236 also reported a patient withy acute liver failure due to RINT1 deficiency, however without any reports of cholestasis or hyperbilirubinaemia.

As per the National Genomic Test Directory (https://www.england.nhs.uk/publication/national-genomic-test-directories/), this panel should include both cholestasis and hyperbilirubinaemia.

As Zornitza Stark has reviewed this gene red on this panel based on the phenotype being acute liver failure, clinical opinion is sought on whether this gene can remain green on this panel.; to: As reviewed previously, PMID:31204009 reported three unrelated individuals with compound heterozygous RINT1 variants and infantile acute liver failure (MIM #618641). However, focal cholestasis was only reported in one patient (proband 3), while jaundice was reported in a different patient (proband 1). Increased bilirubin levels are reported in all three patients. There is also functional evidence on patient dermal fibroblasts available for the splice-variant that was identified in all three patients.

PMID:37463447 reported three individuals from two unrelated families with novel biallelic RINT1 loss-of-function variants and they presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, dysmorphic features and neurodevelopmental delay, expanding the phenotypic spectrum of the disorder. Although acute liver failure or episodic liver dysfunction are reported in these cases, cholestasis or hyperbilirubinaemia are not reported.

PMID:39186236 also reported a patient withy acute liver failure due to RINT1 deficiency, however without any reports of cholestasis or hyperbilirubinaemia.

As per the National Genomic Test Directory (https://www.england.nhs.uk/publication/national-genomic-test-directories/), this panel includes both cholestasis and hyperbilirubinaemia.

As Zornitza Stark has reviewed this gene red on this panel based on the phenotype being acute liver failure, clinical opinion is sought on whether this gene can remain green on this panel.
Cholestasis v3.7 RINT1 Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31204009, 37463447, 39186236; Phenotypes: Infantile liver failure syndrome 3, OMIM:618641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v3.7 VIPAS39 Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
Cholestasis v3.6 RINT1 Zornitza Stark reviewed gene: RINT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cholestasis v3.6 PSKH1 Achchuthan Shanmugasundram Classified gene: PSKH1 as Amber List (moderate evidence)
Cholestasis v3.6 PSKH1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and functional studies) available for the promotion of this gene to green rating in the next GMS update.
Cholestasis v3.6 PSKH1 Achchuthan Shanmugasundram Gene: pskh1 has been classified as Amber List (Moderate Evidence).
Cholestasis v3.5 PSKH1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSKH1.
Cholestasis v3.5 PSKH1 Achchuthan Shanmugasundram gene: PSKH1 was added
gene: PSKH1 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSKH1 were set to 39132680
Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382
Review for gene: PSKH1 was set to GREEN
Added comment: PMID:39132680 reported the identification of homozygous PSKH1 variants in four consanguineous families from a cohort of 279 families with intrahepatic cholestasis. Two of the four families (families 1 and 2) had the same homozygous founder variant (p.Arg121Trp), while different homozygous variants were reported in the other two families (family 3 - p.Ile126Val & family 4 - p.Arg183Cys).

The clinical presentations of the cases are as follows:
Family 1 - One patient died at 10 months of age with cholestasis/ liver impairment and kidney impairment.
Family 2 - Three cousins with cholestasis (two with liver failure needing transplant) and kidney features (two with kidney failure, 1 with renal echogenicity).
Family 3 - Two siblings with hepatic fibrosis (one with unilateral renal agenesis).
Family 4 - Two siblings with unexplained liver cirrhosis (one needing transplant) but normal kidney function.

Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Sources: Literature
Cholestasis v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22
Cholestasis v3.0 Sarah Leigh promoted panel to version 3.0
Cholestasis v2.3 GBE1 Catherine Snow Tag Q1_22_NHS_review was removed from gene: GBE1.
Tag Q2_22_rating was removed from gene: GBE1.
Tag Q2_22_expert_review was removed from gene: GBE1.
Cholestasis v2.3 GALK1 Catherine Snow Tag Q1_22_NHS_review was removed from gene: GALK1.
Tag Q2_22_rating was removed from gene: GALK1.
Tag Q2_22_expert_review was removed from gene: GALK1.
Cholestasis v2.3 CYP7A1 Catherine Snow Tag for-review was removed from gene: CYP7A1.
Tag gene-checked was removed from gene: CYP7A1.
Cholestasis v2.3 GBE1 Catherine Snow reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v2.3 GALK1 Catherine Snow reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v2.3 CYP7A1 Catherine Snow reviewed gene: CYP7A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v2.2 GBE1 Catherine Snow Source NHS GMS was added to GBE1.
Source Expert Review Amber was added to GBE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cholestasis v2.2 GALK1 Catherine Snow Source Expert Review Red was added to GALK1.
Source NHS GMS was added to GALK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cholestasis v2.2 CYP7A1 Catherine Snow Source Expert Review Red was added to CYP7A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cholestasis v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30
Cholestasis v2.0 Arina Puzriakova promoted panel to version 2.0
Cholestasis v1.110 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Cholestasis v1.110 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Cholestasis v1.110 GBA Sarah Leigh commented on gene: GBA
Cholestasis v1.110 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID:ā€Æ29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.āˆ—442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID:ā€Æ29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID:ā€Æ29220678).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cholestasis v1.110 ZFYVE19 Sarah Leigh Publications for gene: ZFYVE19 were set to 32737136
Cholestasis v1.109 ZFYVE19 Sarah Leigh Phenotypes for gene: ZFYVE19 were changed from Cholestasis to Cholestasis, progressive familial intrahepatic, 9, OMIM:619849
Cholestasis v1.108 YARS Sarah Leigh Publications for gene: YARS were set to 30304524; 29232904; 27633801
Cholestasis v1.107 GALK1 Ivone Leong Tag Q2_22_rating tag was added to gene: GALK1.
Tag Q2_22_expert_review tag was added to gene: GALK1.
Cholestasis v1.107 GBE1 Ivone Leong Tag Q2_22_rating tag was added to gene: GBE1.
Tag Q2_22_expert_review tag was added to gene: GBE1.
Cholestasis v1.107 ZFYVE19 Arina Puzriakova Tag gene-checked tag was added to gene: ZFYVE19.
Cholestasis v1.107 CYP7A1 Sarah Leigh Tag gene-checked tag was added to gene: CYP7A1.
Cholestasis v1.107 CYP7A1 Sarah Leigh Publications for gene: CYP7A1 were set to 9802883
Cholestasis v1.106 AP1S1 Ivone Leong Classified gene: AP1S1 as Red List (low evidence)
Cholestasis v1.106 AP1S1 Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red based on expert review by Miranda Durkie (Genetics).
Cholestasis v1.106 AP1S1 Ivone Leong Gene: ap1s1 has been classified as Red List (Low Evidence).
Cholestasis v1.105 AP1S1 Ivone Leong Tag Q2_21_rating was removed from gene: AP1S1.
Cholestasis v1.105 AP1S1 Miranda Durkie reviewed gene: AP1S1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32306098; Phenotypes: Congenital diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.105 TRMU Ivone Leong Tag for-review was removed from gene: TRMU.
Tag Q1_22_NHS_review was removed from gene: TRMU.
Cholestasis v1.105 SMPD1 Ivone Leong Tag for-review was removed from gene: SMPD1.
Tag Q1_22_NHS_review was removed from gene: SMPD1.
Cholestasis v1.105 RINT1 Ivone Leong Tag for-review was removed from gene: RINT1.
Tag Q1_22_NHS_review was removed from gene: RINT1.
Cholestasis v1.105 POLG Ivone Leong Tag for-review was removed from gene: POLG.
Tag Q1_22_NHS_review was removed from gene: POLG.
Cholestasis v1.105 MVK Ivone Leong Tag for-review was removed from gene: MVK.
Tag Q1_22_NHS_review was removed from gene: MVK.
Cholestasis v1.105 MPI Ivone Leong Tag for-review was removed from gene: MPI.
Tag Q4_21_NHS_review was removed from gene: MPI.
Cholestasis v1.105 LIPA Ivone Leong Tag for-review was removed from gene: LIPA.
Tag Q4_21_NHS_review was removed from gene: LIPA.
Cholestasis v1.105 HADHA Ivone Leong Tag for-review was removed from gene: HADHA.
Tag Q1_22_NHS_review was removed from gene: HADHA.
Cholestasis v1.105 GBE1 Ivone Leong Tag for-review was removed from gene: GBE1.
Cholestasis v1.105 CFTR Ivone Leong Tag for-review was removed from gene: CFTR.
Tag Q4_21_NHS_review was removed from gene: CFTR.
Cholestasis v1.105 ADK Ivone Leong Tag for-review was removed from gene: ADK.
Tag Q4_21_NHS_review was removed from gene: ADK.
Cholestasis v1.105 NBAS Ivone Leong Tag for-review was removed from gene: NBAS.
Tag Q1_22_NHS_review was removed from gene: NBAS.
Cholestasis v1.105 GALK1 Ivone Leong Tag for-review was removed from gene: GALK1.
Cholestasis v1.105 GALE Ivone Leong Tag for-review was removed from gene: GALE.
Tag Q1_22_NHS_review was removed from gene: GALE.
Cholestasis v1.105 ZFYVE19 Ivone Leong Tag for-review was removed from gene: ZFYVE19.
Cholestasis v1.105 YARS Ivone Leong Tag watchlist was removed from gene: YARS.
Tag for-review was removed from gene: YARS.
Cholestasis v1.105 USP53 Ivone Leong Tag for-review was removed from gene: USP53.
Cholestasis v1.105 UNC45A Ivone Leong Tag for-review was removed from gene: UNC45A.
Cholestasis v1.105 PKHD1 Ivone Leong Tag for-review was removed from gene: PKHD1.
Cholestasis v1.105 MPV17 Ivone Leong Tag for-review was removed from gene: MPV17.
Cholestasis v1.105 KIF12 Ivone Leong Tag for-review was removed from gene: KIF12.
Cholestasis v1.105 HNF1B Ivone Leong Tag for-review was removed from gene: HNF1B.
Cholestasis v1.105 GBA Ivone Leong Tag for-review was removed from gene: GBA.
Cholestasis v1.105 GALT Ivone Leong Tag for-review was removed from gene: GALT.
Cholestasis v1.105 GALM Ivone Leong Tag for-review was removed from gene: GALM.
Cholestasis v1.105 DGUOK Ivone Leong Tag for-review was removed from gene: DGUOK.
Cholestasis v1.105 CYP7B1 Ivone Leong Tag for-review was removed from gene: CYP7B1.
Cholestasis v1.105 COG7 Ivone Leong Tag for-review was removed from gene: COG7.
Cholestasis v1.105 ATP7B Ivone Leong Tag for-review was removed from gene: ATP7B.
Cholestasis v1.105 TRMU Ivone Leong commented on gene: TRMU: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 SMPD1 Ivone Leong commented on gene: SMPD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 RINT1 Ivone Leong commented on gene: RINT1
Cholestasis v1.105 POLG Ivone Leong commented on gene: POLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 MVK Ivone Leong commented on gene: MVK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 MPI Ivone Leong commented on gene: MPI: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 LIPA Ivone Leong commented on gene: LIPA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 HADHA Ivone Leong commented on gene: HADHA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GBE1 Ivone Leong commented on gene: GBE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 CFTR Ivone Leong commented on gene: CFTR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 ADK Ivone Leong commented on gene: ADK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 NBAS Ivone Leong commented on gene: NBAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GALK1 Ivone Leong commented on gene: GALK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GALE Ivone Leong commented on gene: GALE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 ZFYVE19 Ivone Leong commented on gene: ZFYVE19
Cholestasis v1.105 YARS Ivone Leong commented on gene: YARS
Cholestasis v1.105 USP53 Ivone Leong commented on gene: USP53: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 UNC45A Ivone Leong commented on gene: UNC45A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 PKHD1 Ivone Leong commented on gene: PKHD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 MPV17 Ivone Leong commented on gene: MPV17: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 KIF12 Ivone Leong commented on gene: KIF12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 HNF1B Ivone Leong commented on gene: HNF1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GBA Ivone Leong commented on gene: GBA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GALT Ivone Leong commented on gene: GALT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 GALM Ivone Leong commented on gene: GALM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 DGUOK Ivone Leong commented on gene: DGUOK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 CYP7B1 Ivone Leong commented on gene: CYP7B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 COG7 Ivone Leong commented on gene: COG7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.105 ATP7B Ivone Leong commented on gene: ATP7B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.104 TRMU Ivone Leong Source Expert Review Green was added to TRMU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 SMPD1 Ivone Leong Source Expert Review Green was added to SMPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 RINT1 Ivone Leong Source Expert Review Green was added to RINT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 POLG Ivone Leong Source Expert Review Green was added to POLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 MVK Ivone Leong Source Expert Review Green was added to MVK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 MPI Ivone Leong Source Expert Review Green was added to MPI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 LIPA Ivone Leong Source Expert Review Green was added to LIPA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 HADHA Ivone Leong Source Expert Review Green was added to HADHA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GBE1 Ivone Leong Source Expert Review Green was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 CFTR Ivone Leong Source Expert Review Green was added to CFTR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 ADK Ivone Leong Source Expert Review Green was added to ADK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 NBAS Ivone Leong Source Expert Review Green was added to NBAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GALK1 Ivone Leong Source Expert Review Green was added to GALK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GALE Ivone Leong Source Expert Review Green was added to GALE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 ZFYVE19 Ivone Leong Source Expert Review Green was added to ZFYVE19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 YARS Ivone Leong Source Expert Review Green was added to YARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 USP53 Ivone Leong Source Expert Review Green was added to USP53.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 UNC45A Ivone Leong Source Expert Review Green was added to UNC45A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 PKHD1 Ivone Leong Source Expert Review Green was added to PKHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 MPV17 Ivone Leong Source Expert Review Green was added to MPV17.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 KIF12 Ivone Leong Source Expert Review Green was added to KIF12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 HNF1B Ivone Leong Source Expert Review Green was added to HNF1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GBA Ivone Leong Source Expert Review Green was added to GBA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GALT Ivone Leong Source Expert Review Green was added to GALT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 GALM Ivone Leong Source Expert Review Green was added to GALM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 DGUOK Ivone Leong Source Expert Review Green was added to DGUOK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 CYP7B1 Ivone Leong Source Expert Review Green was added to CYP7B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 COG7 Ivone Leong Source Expert Review Green was added to COG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.104 ATP7B Ivone Leong Source Expert Review Green was added to ATP7B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.103 YARS Alison Bybee changed review comment from: Case report of homozygous biallelic variant inherited from heterozygous parents, child affected with complex clinical conditions culminating in death at 12 months of age. PMID 33490854 reports a case with failure to thrive and cholestatic hepatitis, followed by progressive liver disease, exocrine pancreatic insufficiency, acute renal failure, recurrent infections, ichthyosis, hematologic concerns, hypotonia, and global developmental delay, amongst other features. Autopsy confirmed significant end-stage fibrotic liver disease with cholestasis.
Sources: Literature; to: PMID 33490854 (2021) - Case report of homozygous biallelic variant inherited from heterozygous parents, child affected with complex clinical conditions culminating in death at 12 months of age. PMID 33490854 reports a case with failure to thrive and cholestatic hepatitis, followed by progressive liver disease, exocrine pancreatic insufficiency, acute renal failure, recurrent infections, ichthyosis, hematologic concerns, hypotonia, and global developmental delay, amongst other features. Autopsy confirmed significant end-stage fibrotic liver disease with cholestasis.
Sources: Literature
Cholestasis v1.103 ZFYVE19 Alison Bybee changed review comment from: PMID: 33853651 (2021) - Case report on Moroccan child with biallelic, predicted complete LoF variant in ZFYVE19 and heterozygous consanguineous parents. Patient had neonatal onset PFIC, high-GGT intrahepatic cholestasis, histopathological features of ductal plate malformation/congenital hepatic fibrosis, and cultured patient fibroblasts had features of ciliopathy.

Source: Literature.; to: PMID: 33853651 (2021) - Case report on Moroccan child with biallelic, predicted complete LoF variant in ZFYVE19 homozygous variant with heterozygous consanguineous parents. Patient had neonatal onset PFIC, high-GGT intrahepatic cholestasis, histopathological features of ductal plate malformation/congenital hepatic fibrosis, and cultured patient fibroblasts had features of ciliopathy.

Source: Literature.
Cholestasis v1.103 YARS Alison Bybee reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 33490854; Phenotypes: failure to thrive (FTT), cholestatic hepatitis, progressive liver disease, exocrine pancreatic insufficiency, acute renal failure, recurrent infections, ichthyosis, hematologic concern, , hypotonia, global developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.103 ZFYVE19 Alison Bybee reviewed gene: ZFYVE19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33853651; Phenotypes: neonatal cholestasis, cilia dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.103 TRMU Ivone Leong Tag Q1_22_NHS_review tag was added to gene: TRMU.
Cholestasis v1.103 SMPD1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: SMPD1.
Cholestasis v1.103 RINT1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: RINT1.
Cholestasis v1.103 POLG Ivone Leong Tag Q1_22_NHS_review tag was added to gene: POLG.
Cholestasis v1.103 NBAS Ivone Leong Tag Q1_22_NHS_review tag was added to gene: NBAS.
Cholestasis v1.103 MVK Ivone Leong Tag Q1_22_NHS_review tag was added to gene: MVK.
Cholestasis v1.103 HADHA Ivone Leong Tag Q1_22_NHS_review tag was added to gene: HADHA.
Cholestasis v1.103 GBE1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: GBE1.
Cholestasis v1.103 GALK1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: GALK1.
Cholestasis v1.103 GALE Ivone Leong Tag Q1_22_NHS_review tag was added to gene: GALE.
Cholestasis v1.103 HADHA Miranda Durkie reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9003853, 10518281; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.103 TRMU Miranda Durkie reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23625533, 19732863; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.103 SMPD1 Miranda Durkie reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27198631, 31811098; Phenotypes: Niemann Pick disease A, Niemann Pick disease B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.103 RINT1 Miranda Durkie reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31204009; Phenotypes: Infantile liver failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.103 POLG Miranda Durkie reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20142534, 33720099, 17682973; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.103 MVK Miranda Durkie reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9714005, 21425920; Phenotypes: Mevalonate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.103 NBAS Ivone Leong Phenotypes for gene: NBAS were changed from Infantile liver failure syndrome 2, 616483 to Infantile liver failure syndrome 2, OMIM:616483
Cholestasis v1.102 GBE1 Ivone Leong Publications for gene: GBE1 were set to 8613547
Cholestasis v1.101 GALK1 Ivone Leong Publications for gene: GALK1 were set to
Cholestasis v1.100 GBE1 Miranda Durkie reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301758; Phenotypes: Polyglucosan body disease, adult form; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.100 NBAS Miranda Durkie reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31761904; Phenotypes: Infantile liver failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.100 GALK1 Miranda Durkie reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33413482, PMID: 28108845; Phenotypes: Galactokinase deficiency with cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.100 GALE Miranda Durkie reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21290786; Phenotypes: Epimerase deficiency galactosemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.100 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Mevalonic aciduria, OMIM:610377, MONDO:0012481 to Mevalonic aciduria, OMIM:610377
Cholestasis v1.99 MYO5B Arina Puzriakova Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850; Cholestasis; MYO5B associated disease to Diarrhea 2, with microvillus atrophy, OMIM:251850
Cholestasis v1.98 MPI Ivone Leong Added comment: Comment on publications: Comment on publications: New publications added.
Cholestasis v1.98 MPI Ivone Leong Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110
Cholestasis v1.97 MPI Ivone Leong Tag Q4_21_NHS_review tag was added to gene: MPI.
Cholestasis v1.97 LIPA Ivone Leong Added comment: Comment on publications: Comment on publications: New publications added.
Cholestasis v1.97 LIPA Ivone Leong Publications for gene: LIPA were set to 8254026; 29702543; 8617513; 7759067; 8598644; 26137452; 29731497; 23485521
Cholestasis v1.96 LIPA Ivone Leong Tag Q4_21_NHS_review tag was added to gene: LIPA.
Cholestasis v1.96 CFTR Ivone Leong changed review comment from: Comment on publications: New publicatins added.; to: Comment on publications: New publications added.
Cholestasis v1.96 CFTR Ivone Leong Added comment: Comment on publications: New publicatins added.
Cholestasis v1.96 CFTR Ivone Leong Publications for gene: CFTR were set to 21194565; 27806795; 22798282; 9934970; 26436368; 31041076
Cholestasis v1.95 CFTR Ivone Leong Publications for gene: CFTR were set to 21194565; 27806795; 22798282; 9934970
Cholestasis v1.94 CFTR Ivone Leong Tag Q4_21_NHS_review tag was added to gene: CFTR.
Cholestasis v1.94 ADK Ivone Leong Tag Q4_21_NHS_review tag was added to gene: ADK.
Cholestasis v1.94 ADK Ivone Leong Publications for gene: ADK were set to 21963049; 27500280; 26642971
Cholestasis v1.93 MPI Miranda Durkie reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33413482, PMID: 28108845; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.93 LIPA Miranda Durkie reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26137452, PMID: 33964214; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.93 CFTR Miranda Durkie reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22798282, PMID: 27806795, PMID: 26436368, PMID: 31041076; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.93 ADK Miranda Durkie reviewed gene: ADK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33309011, PMID: 27500280, PMID: 21963049; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.93 FARSA Ivone Leong Classified gene: FARSA as Amber List (moderate evidence)
Cholestasis v1.93 FARSA Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber as there is now an additional case (see comment for publication).
Cholestasis v1.93 FARSA Ivone Leong Gene: farsa has been classified as Amber List (Moderate Evidence).
Cholestasis v1.92 FARSA Ivone Leong Added comment: Comment on publications: PMID:33598926 describes one other case with cholestasis
Cholestasis v1.92 FARSA Ivone Leong Publications for gene: FARSA were set to 31355908
Cholestasis v1.91 FARSA Ivone Leong Tag watchlist tag was added to gene: FARSA.
Cholestasis v1.91 MMP15 Ivone Leong Tag watchlist tag was added to gene: MMP15.
Cholestasis v1.91 MMP15 Ivone Leong Classified gene: MMP15 as Amber List (moderate evidence)
Cholestasis v1.91 MMP15 Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 33875846 describes 3 patients from 2 families with biallelic variants in MMP15 (one is Pro353fs and other is Gly231Arg). One family with 2 affected siblings presented with cholestasis, hepatomegaly, high hepatic transaminases, and congenital heart disease. The other unrelated case showed similar symptoms.

As there are only 2 cases and currently there are no animal models that replicate the human phenotype this gene has been given an Amber rating until more evidence is available.
Cholestasis v1.91 MMP15 Ivone Leong Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.90 MMP15 Ivone Leong Phenotypes for gene: MMP15 were changed from Cholestasis; congenital heart disease to Cholestasis, MONDO:0001751; congenital heart disease, MONDO:0005453
Cholestasis v1.89 MMP15 Ivone Leong Publications for gene: MMP15 were set to PMID: 33875846
Cholestasis v1.88 MMP15 Dmitrijs Rots gene: MMP15 was added
gene: MMP15 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to PMID: 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; congenital heart disease
Penetrance for gene: MMP15 were set to unknown
Review for gene: MMP15 was set to GREEN
Added comment: Three cases from two families with biallelic variants and very similar phenotype including rare combination of symtoms (allagile-like) cholestasis and congenital heart disease.
Sources: Literature
Cholestasis v1.88 VPS50 Ivone Leong Entity copied from Intellectual disability v3.1322
Cholestasis v1.88 VPS50 Ivone Leong gene: VPS50 was added
gene: VPS50 was added to Cholestasis. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: VPS50.
Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS50 were set to 34037727
Phenotypes for gene: VPS50 were set to Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum
Penetrance for gene: VPS50 were set to Complete
Cholestasis v1.87 SLC51A Ivone Leong Classified gene: SLC51A as Red List (low evidence)
Cholestasis v1.87 SLC51A Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. As there is only 1 case there is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Cholestasis v1.87 SLC51A Ivone Leong Gene: slc51a has been classified as Red List (Low Evidence).
Cholestasis v1.86 SLC51A Ivone Leong Phenotypes for gene: SLC51A were changed from Cholestasis, progressive familial intrahepatic, 6, MIM# 619484 to ?Cholestasis, progressive familial intrahepatic, 6, OMIM:619484
Cholestasis v1.85 SLC51A Zornitza Stark gene: SLC51A was added
gene: SLC51A was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: SLC51A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51A were set to 31863603
Phenotypes for gene: SLC51A were set to Cholestasis, progressive familial intrahepatic, 6, MIM# 619484
Review for gene: SLC51A was set to RED
Added comment: Single individual reported with homozygous LoF variant, who presented with chronic malabsorptive diarrhoea, easy bruising, episodes of prolonged bleeding that required blood transfusions, and failure to thrive. Laboratory testing at age 2.5 years showed elevated liver transaminases and alkaline phosphatase. Liver biopsy demonstrated portal and periportal fibrosis and hepatocytes with foci of hepatocytic cholestasis. Analysis of bile acids in a blood spot were normal. Treatment with ursodiol and cholestyramine was started at 5 years of age. The coagulopathy resolved and his growth was adequate, but his liver transaminases, direct bilirubin, and GGT levels remained elevated.
Sources: Literature
Cholestasis v1.85 JAG1 Arina Puzriakova Phenotypes for gene: JAG1 were changed from Alagille syndrome; Neonatal and Adult Cholestasis; Alagille syndrome 1, 118450 to Alagille syndrome 1, OMIM:118450; Neonatal and Adult Cholestasis
Cholestasis v1.84 FARSA Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.79
Cholestasis v1.84 FARSA Ivone Leong gene: FARSA was added
gene: FARSA was added to Cholestasis. Sources: Expert Review Red,Literature
Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSA were set to 31355908
Phenotypes for gene: FARSA were set to ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013
Cholestasis v1.83 AP1S1 Ivone Leong Classified gene: AP1S1 as Amber List (moderate evidence)
Cholestasis v1.83 AP1S1 Ivone Leong Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.82 AP1S1 Ivone Leong gene: AP1S1 was added
gene: AP1S1 was added to Cholestasis. Sources: Literature
Q2_21_rating tags were added to gene: AP1S1.
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 32306098; 15668823; 19057675; 23423674; 30244301
Phenotypes for gene: AP1S1 were set to Non-syndromic congenital intestinal failure; MEDNIK syndrome, OMIM:609313
Review for gene: AP1S1 was set to GREEN
Added comment: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. This gene is also Amber with a recommendation to promote to Green on the Intestinal failure panel (Version 1.40) with the following reviews:

" Established gene-disease association with MEDNIK syndrome - PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease - 2 consanguineous families, each carrying a homozygous missense AP1S1 variant - AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense variants. Sources: Literature
Zornitza Stark (Australian Genomics), 5 Oct 2020"

"This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. After discussion with the Genomics England Clinical Team it was decided that it was appropriate to consider all evidence (including the cases that have an intestinal phenotype for this gene - MEDNIK syndrome), therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review."

After discussion with the Genomics England Clinical Team it was decided that this gene should also be included in this panel.
Sources: Literature
Cholestasis v1.81 TMEM67 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM67.
Cholestasis v1.81 RPGRIP1L Arina Puzriakova Tag curated_removed tag was added to gene: RPGRIP1L.
Cholestasis v1.81 CC2D2A Arina Puzriakova Tag curated_removed tag was added to gene: CC2D2A.
Cholestasis v1.81 BCS1L Eleanor Williams Source: Expert Review Amber was removed from gene: BCS1L
Cholestasis v1.80 PEX2 Eleanor Williams Source: Expert Review Green was removed from gene: PEX2
Cholestasis v1.79 CYP7A1 Eleanor Williams Source: Expert Review Red was removed from gene: CYP7A1
Cholestasis v1.78 RINT1 Eleanor Williams Classified gene: RINT1 as Amber List (moderate evidence)
Cholestasis v1.78 RINT1 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with recommendation for green rating, pending review of whether the phenotype is within the scope of this panel.
Cholestasis v1.78 RINT1 Eleanor Williams Gene: rint1 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.77 RINT1 Eleanor Williams Tag for-review tag was added to gene: RINT1.
Cholestasis v1.77 RINT1 Eleanor Williams gene: RINT1 was added
gene: RINT1 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to 31204009
Phenotypes for gene: RINT1 were set to Infantile liver failure syndrome 3 OMIM:618641; infantile liver failure syndrome 3 MONDO:0032844
Review for gene: RINT1 was set to GREEN
Added comment: Associated with Infantile liver failure syndrome 3 #618641 (AR) in OMIM. Probable association with Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities in Gene2Phenotype.

PMID:31204009 - Cousin et al 2019 - describe 3 unrelated children with recurrent acute liver failure (RALF) and skeletal abnormalities who were found by WES to have compound heterozygous alterations in RINT1. All had splice alterations at the same position (c.1333+1G>A or G>T) together with a missense (p.Ala368Thr or p.Leu370Pro) or in-frame deletion (p.Val618_Lys619del). One variant was inherited from each parent. 2 of the 3 children had short stature. Imaging showed that they had abnormalities affecting the vertebrae and pelvis. Studies on patient dermal fibroblasts showed that the splice-variant results in skipping of exon 9 leading to an out-of-frame product and nonsense-mediated transcript decay and that there was decreased RINT1 protein levels, abnormal Golgi morphology, and impaired autophagic flux compared to control fibroblasts.
Sources: Literature
Cholestasis v1.76 CC2D2A Ivone Leong Tag for-review was removed from gene: CC2D2A.
Cholestasis v1.76 RPGRIP1L Ivone Leong Tag for-review was removed from gene: RPGRIP1L.
Cholestasis v1.76 MPI Arina Puzriakova Publications for gene: MPI were set to 12414827; 10980531; 9585601; 28108845
Cholestasis v1.75 MPI Arina Puzriakova Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, OMIM:602579 to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257
Cholestasis v1.74 MPI Ivone Leong Tag for-review tag was added to gene: MPI.
Cholestasis v1.74 LIPA Ivone Leong Tag for-review tag was added to gene: LIPA.
Cholestasis v1.74 HADHA Ivone Leong Tag for-review tag was added to gene: HADHA.
Cholestasis v1.74 TRMU Ivone Leong Tag for-review tag was added to gene: TRMU.
Cholestasis v1.74 SMPD1 Ivone Leong Tag for-review tag was added to gene: SMPD1.
Cholestasis v1.74 POLG Ivone Leong Tag for-review tag was added to gene: POLG.
Cholestasis v1.74 MVK Ivone Leong Tag for-review tag was added to gene: MVK.
Cholestasis v1.74 GBE1 Ivone Leong Tag for-review tag was added to gene: GBE1.
Cholestasis v1.74 CFTR Ivone Leong Tag for-review tag was added to gene: CFTR.
Cholestasis v1.74 ADK Ivone Leong Tag for-review tag was added to gene: ADK.
Cholestasis v1.74 MPI Ivone Leong reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 LIPA Ivone Leong reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 HADHA Ivone Leong reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 TRMU Ivone Leong reviewed gene: TRMU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 SMPD1 Ivone Leong reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 POLG Ivone Leong reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 MVK Ivone Leong reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 GBE1 Ivone Leong reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 CFTR Ivone Leong reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.74 ADK Ivone Leong reviewed gene: ADK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.73 MPI Ivone Leong gene: MPI was added
gene: MPI was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 12414827; 10980531; 9585601; 28108845
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, OMIM:602579
Cholestasis v1.73 LIPA Ivone Leong gene: LIPA was added
gene: LIPA was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 8254026; 29702543; 8617513; 7759067; 8598644; 26137452; 29731497; 23485521
Phenotypes for gene: LIPA were set to lysosomal acid lipase deficiency; Wolman disease, OMIM:278000, MONDO:0019148; Cholesteryl ester storage disease, OMIM:278000, MONDO:0019149; Neonatal and Adult Cholestasis; cholestasis
Cholestasis v1.73 HADHA Ivone Leong gene: HADHA was added
gene: HADHA was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 10518281; 9003853
Phenotypes for gene: HADHA were set to LCHAD deficiency, OMIM:609016, MONDO:0012173
Cholestasis v1.73 TRMU Ivone Leong gene: TRMU was added
gene: TRMU was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMU were set to 21153446; 21931168; 19732863; 23625533
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, OMIM:613070
Cholestasis v1.73 SMPD1 Ivone Leong gene: SMPD1 was added
gene: SMPD1 was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, OMIM:257200, MONDO:0009756
Cholestasis v1.73 POLG Ivone Leong gene: POLG was added
gene: POLG was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758
Cholestasis v1.73 MVK Ivone Leong gene: MVK was added
gene: MVK was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria, OMIM:610377, MONDO:0012481
Cholestasis v1.73 GBE1 Ivone Leong gene: GBE1 was added
gene: GBE1 was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 8613547
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, OMIM:232500
Cholestasis v1.73 CFTR Ivone Leong gene: CFTR was added
gene: CFTR was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFTR were set to 21194565; 27806795; 22798282; 9934970
Phenotypes for gene: CFTR were set to Cholestasis; Neonatal and Adult Cholestasis; Cystic fibrosis, OMIM:219700, MONDO:0009061; {Pancreatitis, hereditary}, OMIM:167800
Cholestasis v1.73 ADK Ivone Leong gene: ADK was added
gene: ADK was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADK were set to 21963049; 27500280; 26642971
Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency, OMIM:614300, MONDO:0013676
Cholestasis v1.72 PKHD1 Ivone Leong Classified gene: PKHD1 as Amber List (moderate evidence)
Cholestasis v1.72 PKHD1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is Green on the Neonatal cholestasis panel (v1.13). There is enough evidence to support a gene-disease association; however, this gene has been given an Amber rating and a "for-review" tag for consideration of promoting to Green status at the next major review.
Cholestasis v1.72 PKHD1 Ivone Leong Gene: pkhd1 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.71 PKHD1 Ivone Leong Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, 263200 to Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200; MONDO:0044327
Cholestasis v1.70 PKHD1 Ivone Leong Tag for-review tag was added to gene: PKHD1.
Cholestasis v1.70 GALK1 Ivone Leong Classified gene: GALK1 as Amber List (moderate evidence)
Cholestasis v1.70 GALK1 Ivone Leong Gene: galk1 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.69 GALK1 Ivone Leong Classified gene: GALK1 as Amber List (moderate evidence)
Cholestasis v1.69 GALK1 Ivone Leong Gene: galk1 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.68 GALK1 Ivone Leong gene: GALK1 was added
gene: GALK1 was added to Cholestasis. Sources: Expert Review
for-review tags were added to gene: GALK1.
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, OMIM:230200; MONDO:0009255 Edit
Review for gene: GALK1 was set to AMBER
Added comment: This gene is associated with an appropriate phenotype in OMIM and Gene2phenotype. It is a Green gene on Inborn errors of metabolism (v2.28) and Fetal anomalies (v1.111). There is enough evidence for a gene-disease association.

After discussion with the Genomics England Clinical Team, it was decided that this gene should be added as an Amber gene on this panel as the phenotype can mimic cholestasis with a presentation with jaundice.
Sources: Expert Review
Cholestasis v1.67 GALE Ivone Leong Classified gene: GALE as Amber List (moderate evidence)
Cholestasis v1.67 GALE Ivone Leong Gene: gale has been classified as Amber List (Moderate Evidence).
Cholestasis v1.66 GALE Ivone Leong gene: GALE was added
gene: GALE was added to Cholestasis. Sources: Expert Review
for-review tags were added to gene: GALE.
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALE were set to 27604308
Phenotypes for gene: GALE were set to Galactose epimerase deficiency, OMIM:230350; MONDO:0009257
Review for gene: GALE was set to AMBER
Added comment: This gene is associated with an appropriate phenotype in OMIM and Gene2phenotype. It is a Green gene on Inborn errors of metabolism (v2.28) and Fetal anomalies (v1.111). There is enough evidence for a gene-disease association.

After discussion with the Genomics England Clinical Team, it was decided that this gene should be added as an Amber gene on this panel as the phenotype can mimic cholestasis with a presentation with jaundice.
Sources: Expert Review
Cholestasis v1.65 GALT Ivone Leong Classified gene: GALT as Amber List (moderate evidence)
Cholestasis v1.65 GALT Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.7) with the following review:
"Sarah Leigh (Genomics England Curator):

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 14 variants reported.
Sarah Leigh (Genomics England Curator), 14 Aug 2018

Comment on phenotypes: Phenotype appears to include features relevant to the neonatal cholestasis panel
Sarah Leigh (Genomics England Curator), 14 Aug 2018"

Therefore, this gene has been given an Amber rating and will be promoted to Green status at the next major review.
Cholestasis v1.65 GALT Ivone Leong Gene: galt has been classified as Amber List (Moderate Evidence).
Cholestasis v1.64 GALT Ivone Leong Classified gene: GALT as Amber List (moderate evidence)
Cholestasis v1.64 GALT Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.7) with the following review:
"Sarah Leigh (Genomics England Curator):

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 14 variants reported.
Sarah Leigh (Genomics England Curator), 14 Aug 2018

Comment on phenotypes: Phenotype appears to include features relevant to the neonatal cholestasis panel
Sarah Leigh (Genomics England Curator), 14 Aug 2018"

Therefore, this gene has been given an Amber rating and will be promoted to Green status at the next major review.
Cholestasis v1.64 GALT Ivone Leong Gene: galt has been classified as Amber List (Moderate Evidence).
Cholestasis v1.63 GALT Ivone Leong Tag for-review tag was added to gene: GALT.
Cholestasis v1.63 GALM Ivone Leong Phenotypes for gene: GALM were changed from Galactosemia IV, 618881 to Galactosemia IV, OMIM:618881; MONDO:0030105
Cholestasis v1.62 GALT Ivone Leong Phenotypes for gene: GALT were changed from Galactosemia, MIM# 230400 to Galactosemia, OMIM:230400; MONDO:0018116
Cholestasis v1.61 GALM Ivone Leong Classified gene: GALM as Amber List (moderate evidence)
Cholestasis v1.61 GALM Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with an appropriate phenotype in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be Green. The gene has been given an Amber rating and will be promoted to Green at the next review.
Cholestasis v1.61 GALM Ivone Leong Gene: galm has been classified as Amber List (Moderate Evidence).
Cholestasis v1.60 GALM Ivone Leong Tag for-review tag was added to gene: GALM.
Cholestasis v1.60 NBAS Ivone Leong commented on gene: NBAS: After consultation with the Genomics Clinical Team this gene has been left on this panel for the following reason:
"Helen Brittain (Genomics England):
Infantile liver failure: the evidence for this seems good. It doesn't clearly map to any of our panels or the GMS indications. The closest would probably be cholestasis. I think it is worth adding there as amber, for expert phenotypic review in the next GMS iteration."
Cholestasis v1.60 NBAS Ivone Leong changed review comment from: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel.
Sources: Literature; to: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel.
Sources: Literature
Cholestasis v1.60 COG7 Ivone Leong Classified gene: COG7 as Amber List (moderate evidence)
Cholestasis v1.60 COG7 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.4) with the following review:
"Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in 3 unrelated families, together with supportive in vitro studies (PMID 19577670)."

This gene has been given an Amber rating and will be made Green at the next review.
Cholestasis v1.60 COG7 Ivone Leong Gene: cog7 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.59 COG7 Ivone Leong Tag for-review tag was added to gene: COG7.
Cholestasis v1.59 ATP7B Ivone Leong Publications for gene: ATP7B were set to
Cholestasis v1.58 ATP7B Ivone Leong Phenotypes for gene: ATP7B were changed from Wilson disease, MIM# 277900 to Wilson disease, 277900
Cholestasis v1.57 ATP7B Ivone Leong Classified gene: ATP7B as Amber List (moderate evidence)
Cholestasis v1.57 ATP7B Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.4) with the following review:
"Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on comments by Helen Britain, Genomics England Clinical Fellow
Created: 3 Sep 2018, 11:31 a.m.

Associated with phenotype in OMIM and not in Gen2Phen. Numerous variants identified in unrelated cases, however, seldom reported in young children.

Comments of Helen Britain, Genomics England Clinical Fellow "the age of onset is often later than the target range of this panel, however when there is a juvenile onset, the presentation is often primarily hepatic. There are treatment options for affected individuals and confirmatory biochemical tests. Therefore, even though this is not a classical phenotypic fit, I think on balance it worth including."
Created: 14 Aug 2018, 9:33 a.m."

Therefore, this Gene has been given an Amber gene rating and will be promoted to Green status at next review.
Cholestasis v1.57 ATP7B Ivone Leong Gene: atp7b has been classified as Amber List (Moderate Evidence).
Cholestasis v1.56 ATP7B Ivone Leong Tag for-review tag was added to gene: ATP7B.
Cholestasis v1.56 COG7 Ivone Leong Phenotypes for gene: COG7 were changed from Congenital disorder of glycosylation, type IIe , MIM#608779 to Congenital disorder of glycosylation, type IIe , 608779
Cholestasis v1.55 CYP7A1 Ivone Leong Tag for-review tag was added to gene: CYP7A1.
Cholestasis v1.55 CYP7A1 Ivone Leong commented on gene: CYP7A1: CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet.

Therefore, this gene should be demoted from Green to Red.
Cholestasis v1.55 CYP7A1 Ivone Leong edited their review of gene: CYP7A1: Changed rating: GREEN
Cholestasis v1.55 CYP7A1 Ivone Leong Deleted their comment
Cholestasis v1.55 CYP7A1 Ivone Leong changed review comment from: CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet.; to: CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet.
Cholestasis v1.55 CYP7A1 Ivone Leong edited their review of gene: CYP7A1: Added comment: CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet.; Changed rating: RED
Cholestasis v1.55 CYP7B1 Ivone Leong Publications for gene: CYP7B1 were set to 9802883; 31337596; 30366773; 18367963
Cholestasis v1.54 CYP7B1 Ivone Leong Tag for-review tag was added to gene: CYP7B1.
Cholestasis v1.54 CYP7B1 Ivone Leong Classified gene: CYP7B1 as Amber List (moderate evidence)
Cholestasis v1.54 CYP7B1 Ivone Leong Added comment: Comment on list classification: The case described in PMID: 9802883 has already been reviewed by Ellen McDonagh (Genomics England Curator), 25 Jul 2018. Variant is CYP7B1 (R388X/R388X) and the individual is of Hispanic ancestry.

PMID: 18367963 and 31337596 describe 4 unrelated cases from Taiwan who all had the same variant (R112X/R112X). PMID: 31337596 found that the allele frequency of p.R112X is 0.16% in the Taiwanese populatio, compared with the allele frequency of the worldwide population (0.014%). All 4 had neonatal cholestasis.

PMID: 21567895 describes a Japanese patient with R112X/R417C with progressive cholestatic liver disease.

PMID: 24658845 describes a patient from a consanguineous Pakistani family with cholestatic liver disease with R417C/R417C.

There is enough evidence to support gene-disease association. This gene will be promoted to Green status at the next review.
Cholestasis v1.54 CYP7B1 Ivone Leong Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.53 CYP7B1 Ivone Leong Publications for gene: CYP7B1 were set to 9802883; 31337596; 30366773
Cholestasis v1.52 CYP7B1 Ivone Leong Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis to Bile acid synthesis defect, congenital, 3, 613812; Neonatal and Adult Cholestasis
Cholestasis v1.51 CYP7B1 Ivone Leong Publications for gene: CYP7B1 were set to 9802883
Cholestasis v1.50 DGUOK Ivone Leong Classified gene: DGUOK as Amber List (moderate evidence)
Cholestasis v1.50 DGUOK Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and will be promoted to Green status at the next review.

This gene is also Green on Mitochondrial liver disease (v1.3), Mitochondrial DNA maintenance disorder (1.3), Inborn errors of metabolism (v2.24) and Possible mitochondrial disorder - nuclear genes (v1.17), Mitochondrial disorders (v2.8). It is also a Green gene on the Neonatal cholestasis panel (v1.4).
Cholestasis v1.50 DGUOK Ivone Leong Gene: dguok has been classified as Amber List (Moderate Evidence).
Cholestasis v1.49 DGUOK Ivone Leong Tag for-review tag was added to gene: DGUOK.
Cholestasis v1.49 DGUOK Ivone Leong Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
Cholestasis v1.48 GBA Ivone Leong Classified gene: GBA as Amber List (moderate evidence)
Cholestasis v1.48 GBA Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber review and will be promoted to a Green gene at the next review.

This gene is also Green on the Neonatal cholestasis panel (v1.4) with the following review:
"Comment when marking as ready: Associated with relevant phenotype in OMIM and as both DD and IF Gen2Phen gene. At least 40 variants reported.
Sarah Leigh (Genomics England Curator), 14 Aug 2018"
Cholestasis v1.48 GBA Ivone Leong Gene: gba has been classified as Amber List (Moderate Evidence).
Cholestasis v1.47 GBA Ivone Leong Tag for-review tag was added to gene: GBA.
Cholestasis v1.47 IARS Ivone Leong commented on gene: IARS: "New gene name" tag added, the new gene name is IARS1.
Cholestasis v1.47 IARS Ivone Leong Tag new-gene-name tag was added to gene: IARS.
Cholestasis v1.47 IARS Ivone Leong Classified gene: IARS as Amber List (moderate evidence)
Cholestasis v1.47 IARS Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. Based on the available evidence there is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.

This gene is also Amber on the Neonatal cholestasis panel (v1.4) with the following review:
"Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 8 variants reported in 4 unrelated cases. Cholestasis was only evident in 2 of these cases and one of these cases also carried a heterozygous ABCB11 variant, which may contribute to the manifestation of cholestasis.
Created: 15 Aug 2018, 1:13 p.m."
Cholestasis v1.47 IARS Ivone Leong Gene: iars has been classified as Amber List (Moderate Evidence).
Cholestasis v1.46 IARS Ivone Leong Phenotypes for gene: IARS were changed from Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Cholestasis v1.45 NPHP3 Ivone Leong Classified gene: NPHP3 as Amber List (moderate evidence)
Cholestasis v1.45 NPHP3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association; however, as cholestasis is not a prominant feature of Renal-hepatic-pancreatic dysplasia and there does not appear to be any cases with isolated cholestasis phenotype. Therefore, this gene has been given an Amber rating.

This gene is Green on Cystic kidney disease (v2.19), Unexplained paediatric onset end-stage renal disease (v1.11), Fetal anomalies (v1.92) and Renal ciliopathies (v1.30).

It is also Amber on Neonatal cholestasis (v1.4) with the following review:
"Comment on list classification: Cholestasis is not a major feature of Nephronophthisis 3. Biallelic variants in this gene have been reported in Caroli syndrome and renal-hepatic-pancreatic dysplasia; only a small number of cases have been reported and features vary. It would be less likely for variants in this gene to present with isolated cholestasis; NPHP3 is on a number of other panels including rare multisystem ciliopathies and cystic kidneys.
Anna de Burca (Genomics England Curator), 25 Jul 2018"
Cholestasis v1.45 NPHP3 Ivone Leong Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.44 NPHP3 Ivone Leong Publications for gene: NPHP3 were set to 18371931; 20007846; 32341812
Cholestasis v1.43 GBA Ivone Leong Phenotypes for gene: GBA were changed from Gaucher disease to 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
Cholestasis v1.42 HNF1B Ivone Leong Classified gene: HNF1B as Amber List (moderate evidence)
Cholestasis v1.42 HNF1B Ivone Leong Added comment: Comment on list classification: Comment on list classification: New gene added by Zornitiza Stark. Based on the available evidence there is enough evidence to support a gene-disease association. Therefore, this gene is rated Amber and will be promoted to Green in the next review.

This gene is also Green on the Neonatal Cholestasis panel (v1.4)
Cholestasis v1.42 HNF1B Ivone Leong Gene: hnf1b has been classified as Amber List (Moderate Evidence).
Cholestasis v1.41 HNF1B Ivone Leong Tag for-review tag was added to gene: HNF1B.
Cholestasis v1.41 HNF1B Ivone Leong Phenotypes for gene: HNF1B were changed from Renal cysts and diabetes syndrome, MIM# 137920 to Renal cysts and diabetes syndrome, 137920
Cholestasis v1.40 MPV17 Ivone Leong Classified gene: MPV17 as Amber List (moderate evidence)
Cholestasis v1.40 MPV17 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitiza Stark. Based on the available evidence there is enough evidence to support a gene-disease association. Therefore, this gene is rated Amber and will be promoted to Green in the next review.

This gene is also Green on the Neonatal Cholestasis panel (v1.4)
Cholestasis v1.40 MPV17 Ivone Leong Gene: mpv17 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.39 MPV17 Ivone Leong Tag for-review tag was added to gene: MPV17.
Cholestasis v1.39 MPV17 Ivone Leong Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Cholestasis v1.38 PKHD1 Ivone Leong Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 to Polycystic kidney disease 4, with or without hepatic disease, 263200
Cholestasis v1.37 NPHP3 Ivone Leong Phenotypes for gene: NPHP3 were changed from Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 to Renal-hepatic-pancreatic dysplasia 1, 208540
Cholestasis v1.36 UNC45A Ivone Leong Classified gene: UNC45A as Amber List (moderate evidence)
Cholestasis v1.36 UNC45A Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and will be promoted to Green at the next panel review.
Cholestasis v1.36 UNC45A Ivone Leong Gene: unc45a has been classified as Amber List (Moderate Evidence).
Cholestasis v1.35 UNC45A Ivone Leong Tag for-review tag was added to gene: UNC45A.
Cholestasis v1.35 KIF12 Ivone Leong Tag for-review tag was added to gene: KIF12.
Cholestasis v1.35 KIF12 Ivone Leong Classified gene: KIF12 as Amber List (moderate evidence)
Cholestasis v1.35 KIF12 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber status and will be promoted to Green at the next review.
Cholestasis v1.35 KIF12 Ivone Leong Gene: kif12 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.34 LSR Ivone Leong Tag watchlist tag was added to gene: LSR.
Cholestasis v1.34 LSR Ivone Leong Classified gene: LSR as Amber List (moderate evidence)
Cholestasis v1.34 LSR Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. As there are only 2 cases this gene has been given an Amber rating.
Cholestasis v1.34 LSR Ivone Leong Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v1.33 WDR83OS Ivone Leong Classified gene: WDR83OS as Red List (low evidence)
Cholestasis v1.33 WDR83OS Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene has been given a Red rating as there is only one case available.
Cholestasis v1.33 WDR83OS Ivone Leong Gene: wdr83os has been classified as Red List (Low Evidence).
Cholestasis v1.32 GALM Ivone Leong Phenotypes for gene: GALM were changed from type IV galactosaemia to Galactosemia IV, 618881
Cholestasis v1.31 PEX14 Ivone Leong Classified gene: PEX14 as Amber List (moderate evidence)
Cholestasis v1.31 PEX14 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is currently not enough evidence to support gene-disease association. This gene has been given Amber status until further evidence is available.
Cholestasis v1.31 PEX14 Ivone Leong Gene: pex14 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.30 PEX14 Ivone Leong Publications for gene: PEX14 were set to 21686775; 18285423
Cholestasis v1.29 PEX14 Ivone Leong Phenotypes for gene: PEX14 were changed from Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 to Peroxisome biogenesis disorder 13A (Zellweger), 614887
Cholestasis v1.28 PPM1F Ivone Leong Classified gene: PPM1F as Red List (low evidence)
Cholestasis v1.28 PPM1F Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. As there is currently only 1 case, this gene has been given a Red rating.
Cholestasis v1.28 PPM1F Ivone Leong Gene: ppm1f has been classified as Red List (Low Evidence).
Cholestasis v1.27 USP53 Ivone Leong commented on gene: USP53: There is enough evidence to support a gene-disease association. This gene will be promoted to Green status at the next review.
Cholestasis v1.27 USP53 Ivone Leong Tag for-review tag was added to gene: USP53.
Cholestasis v1.27 USP53 Ivone Leong Publications for gene: USP53 were set to 30250217; 32124521
Cholestasis v1.26 USP53 Ivone Leong Phenotypes for gene: USP53 were changed from Paediatric cholestatic liver disease to Paediatric cholestatic liver disease; Cholestasis; deafness
Cholestasis v1.25 USP53 Ivone Leong Publications for gene: USP53 were set to 30250217
Cholestasis v1.24 ZFYVE19 Arina Puzriakova Tag for-review tag was added to gene: ZFYVE19.
Cholestasis v1.24 ZFYVE19 Arina Puzriakova Classified gene: ZFYVE19 as Amber List (moderate evidence)
Cholestasis v1.24 ZFYVE19 Arina Puzriakova Gene: zfyve19 has been classified as Amber List (Moderate Evidence).
Cholestasis v1.23 ZFYVE19 Arina Puzriakova gene: ZFYVE19 was added
gene: ZFYVE19 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: ZFYVE19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE19 were set to 32737136
Phenotypes for gene: ZFYVE19 were set to Cholestasis
Review for gene: ZFYVE19 was set to GREEN
Added comment: PMID: 32737136 (2020) - Nine Han Chinese children from seven families with biallelic, predicted complete LoF variants in ZFYVE19. All patients had high-GGT intrahepatic cholestasis, portal hypertension, and histopathological features of the ductal plate malformation/congenital hepatic fibrosis.

ZFYVE19 depletion in cultured cells from one patient yielded centriolar and axonemal abnormalities, and immunostaining for two ciliary proteins DCDC2 and ACALT showed abnormal localisation in patient cholangiocytes, indicating this as a novel ciliopathy disorder.
Sources: Literature
Cholestasis v1.22 Ivone Leong Panel version has been signed off
Cholestasis v1.19 CC2D2A Ivone Leong Classified gene: CC2D2A as No list
Cholestasis v1.19 CC2D2A Ivone Leong Added comment: Comment on list classification: This gene has been downgraded from Green to Grey based on expert review from Miranda Durkie (Genetics).
Cholestasis v1.19 CC2D2A Ivone Leong Gene: cc2d2a has been removed from the panel.
Cholestasis v1.18 TMEM67 Ivone Leong Classified gene: TMEM67 as No list
Cholestasis v1.18 TMEM67 Ivone Leong Added comment: Comment on list classification: This gene has been downgraded from Green to Grey based on expert review from Miranda Durkie (Genetics).
Cholestasis v1.18 TMEM67 Ivone Leong Gene: tmem67 has been removed from the panel.
Cholestasis v1.17 TMEM67 Ivone Leong Tag for-review was removed from gene: TMEM67.
Cholestasis v1.17 RPGRIP1L Ivone Leong Classified gene: RPGRIP1L as No list
Cholestasis v1.17 RPGRIP1L Ivone Leong Added comment: Comment on list classification: This gene has been downgraded from Green to Grey based on expert review from Miranda Durkie (Genetics).
Cholestasis v1.17 RPGRIP1L Ivone Leong Gene: rpgrip1l has been removed from the panel.
Cholestasis v1.16 UNC45A Zornitza Stark gene: UNC45A was added
gene: UNC45A was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45A were set to 29429573
Phenotypes for gene: UNC45A were set to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Review for gene: UNC45A was set to GREEN
gene: UNC45A was marked as current diagnostic
Added comment: Three unrelated families reported.
Sources: Expert list
Cholestasis v1.16 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cholestasis v1.16 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cholestasis v1.16 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 30366773; 25771912; 8616994
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Review for gene: PKHD1 was set to GREEN
gene: PKHD1 was marked as current diagnostic
Added comment: Periportal fibrosis is a key feature, cholestasis reported.
Sources: Expert list
Cholestasis v1.16 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 21686775; 18285423
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Review for gene: PEX14 was set to AMBER
Added comment: Two cases reported with cholestasis.
Sources: Expert list
Cholestasis v1.16 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP3 were set to 18371931; 20007846; 32341812
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Review for gene: NPHP3 was set to GREEN
Added comment: Very rare ciliopathy with prominent liver phenotype, including cholestasis.
Sources: Expert list
Cholestasis v1.16 NBAS Zornitza Stark reviewed gene: NBAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cholestasis v1.16 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Review for gene: MPV17 was set to GREEN
gene: MPV17 was marked as current diagnostic
Added comment: Hepatic involvement is prominent, cholestasis described in addition to hepatomegaly, persistent neonatal jaundice, Reye-like syndrome, progressive hepatic failure.
Sources: Expert list
Cholestasis v1.16 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735; 27891590
Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Review for gene: IARS was set to AMBER
Added comment: Liver dysfunction is variable, intermittent, and not present in all individuals reported. However, two individuals specifically reported as having cholestasis.
Sources: Expert list
Cholestasis v1.16 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 28324003; 29727438; 30791938; 25741167
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920
Review for gene: HNF1B was set to GREEN
Added comment: Multiple case reports of cholestasis in individuals with HNF1B-related disease.
Sources: Expert list
Cholestasis v1.16 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 32324335
Phenotypes for gene: GBA were set to Gaucher disease
Review for gene: GBA was set to GREEN
gene: GBA was marked as current diagnostic
Added comment: Ten cases reported presenting as neonatal cholestasis. Treatable metabolic disorder.
Sources: Expert list
Cholestasis v1.16 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALT were set to 30693370
Phenotypes for gene: GALT were set to Galactosemia, MIM# 230400
Review for gene: GALT was set to GREEN
Added comment: Liver disease, including cholestasis is a prominent part of the presenting phenotype of this relatively common, treatable metabolic disorder.
Sources: Expert list
Cholestasis v1.16 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Review for gene: DGUOK was set to GREEN
gene: DGUOK was marked as current diagnostic
Added comment: Progressive liver disease including cholestasis is a prominent part of the presenting phenotype.
Sources: Expert list
Cholestasis v1.16 CYP7B1 Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337596, 30366773; Phenotypes: Bile acid synthesis defect, congenital, 3, MIM# 613812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.16 CYP7A1 Zornitza Stark reviewed gene: CYP7A1: Rating: RED; Mode of pathogenicity: None; Publications: 9802883; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.16 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG7 were set to 19577670; 17395513; 15107842
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe , MIM#608779
Review for gene: COG7 was set to GREEN
Added comment: Hepatomegaly, abnormal LFTs, cholestasis reported in several affected individuals with this CDG, often as part of the initial presentation.
Sources: Expert list
Cholestasis v1.16 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease, MIM# 277900
Review for gene: ATP7B was set to GREEN
gene: ATP7B was marked as current diagnostic
Added comment: Although the classic presentation of Wilson's disease is with hepatitis or liver failure, consider including in this panel as a relatively common, treatable cause of liver disease.
Sources: Expert list
Cholestasis v1.16 YARS Sarah Leigh Tag watchlist tag was added to gene: YARS.
Cholestasis v1.16 YARS Sarah Leigh commented on gene: YARS: The new gene for YARS is YARS1
Cholestasis v1.16 YARS Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants are associated with Charcot-Marie-Tooth disease, dominant intermediate C 608323, while biallelic variants are associated with a complex phenotype that may include intellectual disability, hearing loss and liver damage.
Cholestasis v1.16 YARS Sarah Leigh Phenotypes for gene: YARS were changed from Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction
Cholestasis v1.15 YARS Sarah Leigh Classified gene: YARS as Amber List (moderate evidence)
Cholestasis v1.15 YARS Sarah Leigh Gene: yars has been classified as Amber List (Moderate Evidence).
Cholestasis v1.14 YARS Sarah Leigh Tag for-review tag was added to gene: YARS.
Cholestasis v1.14 YARS Sarah Leigh gene: YARS was added
gene: YARS was added to Cholestasis. Sources: Literature
new-gene-name tags were added to gene: YARS.
Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS were set to 30304524; 29232904; 27633801
Phenotypes for gene: YARS were set to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction
Review for gene: YARS was set to AMBER
Added comment: Biallelic variants in three families with complex clinical conditions including developmental delay and liver damage. PMID 30304524 reports an extended family with microcephaly, expressive language delay, hearing loss, cholestatic liver disease, amongst other features. PMID 29232904 reports a proband whose phenotype included hearing loss, retnititis pigmentosa, hypotonia, transiant fatty liver, but did not include intellectual disability. PMID 27633801 reports two sibblings with hypotionia and liver dysfunction. The older brother at 15 years of age has mild delays, he attends school on an individualized educational program and functions at a grade 3 level.
Sources: Literature
Cholestasis v1.13 NBAS Ivone Leong changed review comment from: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes.
Sources: Literature; to: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel.
Sources: Literature
Cholestasis v1.13 NBAS Ivone Leong Publications for gene: NBAS were set to 26541327, 28629372, 30622725, 26073778, 32146038, 31761904
Cholestasis v1.12 NBAS Ivone Leong Classified gene: NBAS as Amber List (moderate evidence)
Cholestasis v1.12 NBAS Ivone Leong Gene: nbas has been classified as Amber List (Moderate Evidence).
Cholestasis v1.11 NBAS Ivone Leong gene: NBAS was added
gene: NBAS was added to Cholestasis. Sources: Literature
for-review tags were added to gene: NBAS.
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 26541327, 28629372, 30622725, 26073778, 32146038, 31761904
Phenotypes for gene: NBAS were set to Infantile liver failure syndrome 2, 616483
Review for gene: NBAS was set to AMBER
Added comment: There are >3 unrelated cases of patients with variants in NBAS with infantile liver failure. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes.
Sources: Literature
Cholestasis v1.10 FARSB Arina Puzriakova Classified gene: FARSB as Amber List (moderate evidence)
Cholestasis v1.10 FARSB Arina Puzriakova Added comment: Comment on list classification: Gene has been added following suggestion for a GMS panel by the clinical team, but this is subject to review by the GMS specialist group, as not a clear match for this panel.
Cholestasis v1.10 FARSB Arina Puzriakova Gene: farsb has been classified as Amber List (Moderate Evidence).
Cholestasis v1.9 FARSB Arina Puzriakova gene: FARSB was added
gene: FARSB was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSB were set to 29573043; 29979980; 30014610
Phenotypes for gene: FARSB were set to Rajab interstitial lung disease with brain calcifications, 613658
Added comment: Associated with Rajab interstitial lung disease with brain calcifications in OMIM, but not in G2P.

Biallelic variants are associated with a multisystem disorder characterised by interstitial lung disease, cerebral aneurysms and brain calcifications, cirrhosis, and failure to thrive. At least six unrelated families described:

Antonellis et al. (2018) (PMID: 29573043) - Compound heterozygous variants (c.767C>T, p.Thr256Met; c.1486delCinsAA, p.His496Lysfs*14) identified in a male. Expression studies using patient fibroblasts showed severe depletion in protein levels, with indication of a loss-off-function effect.

Xu et al. 2018 (PMID: 29979980) - five affected individuals from four families with biallelic FARSB variants.

Zadjali et al. (2018) (PMID: 30014610) - eight affected individuals from a large consanguineous Omani family revealed homozygosity for a missense variant (c.853G>A, p.Glu285Lys).
Sources: Literature
Cholestasis v1.8 TMEM67 Ivone Leong Tag for-review tag was added to gene: TMEM67.
Cholestasis v1.8 CC2D2A Ivone Leong Phenotypes for gene: CC2D2A were changed from COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285 to COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285; Congenital hepatic fibrosis; Ciliopathy
Cholestasis v1.7 CC2D2A Ivone Leong Publications for gene: CC2D2A were set to 27959436; 19574260; 18950740
Cholestasis v1.6 CC2D2A Ivone Leong Tag for-review tag was added to gene: CC2D2A.
Cholestasis v1.6 RPGRIP1L Ivone Leong Tag for-review tag was added to gene: RPGRIP1L.
Cholestasis v1.6 RPGRIP1L Ivone Leong Phenotypes for gene: RPGRIP1L were changed from Meckel syndrome 5 (611561); Joubert syndrome 7 (611560); COACH syndrome (216360) to Meckel syndrome 5 (611561); Joubert syndrome 7 (611560); COACH syndrome (216360); Congenital hepatic fibrosis
Cholestasis v1.5 RPGRIP1L Ivone Leong Publications for gene: RPGRIP1L were set to 17558409; 19574260
Cholestasis v1.4 CC2D2A Miranda Durkie reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: ; Publications: 28680603; Phenotypes: ; Mode of inheritance:
Cholestasis v1.4 RPGRIP1L Miranda Durkie reviewed gene: RPGRIP1L: Rating: RED; Mode of pathogenicity: ; Publications: 28680603; Phenotypes: ; Mode of inheritance:
Cholestasis v1.4 TMEM67 Miranda Durkie reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: ; Publications: 28680603; Phenotypes: ; Mode of inheritance:
Cholestasis v1.3 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). In vitro expression analysis and enzyme activity assay of the patientsā€™ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973)

Note only two individuals were reported as having transient cholestasis.
Sources: Literature
Cholestasis v1.3 WDR83OS Zornitza Stark gene: WDR83OS was added
gene: WDR83OS was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR83OS were set to 30250217
Phenotypes for gene: WDR83OS were set to Cholestasis
Review for gene: WDR83OS was set to RED
Added comment: One consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS. The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR.
Sources: Literature
Cholestasis v1.3 LSR Zornitza Stark gene: LSR was added
gene: LSR was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSR were set to 32303357; 30250217
Phenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature
Review for gene: LSR was set to AMBER
Added comment: Two families reported.
Sources: Literature
Cholestasis v1.3 USP53 Zornitza Stark reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250217, 32124521; Phenotypes: Cholestasis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cholestasis v1.3 PPM1F Zornitza Stark gene: PPM1F was added
gene: PPM1F was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1F were set to 30250217; 30976738
Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentation
Review for gene: PPM1F was set to RED
Added comment: One consanguineous family reported.
Sources: Literature
Cholestasis v1.3 KIF12 Zornitza Stark gene: KIF12 was added
gene: KIF12 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF12 were set to 30250217; 30976738
Phenotypes for gene: KIF12 were set to Cholestasis; High Gamma-Glutamyltransferase (GGT)
Review for gene: KIF12 was set to GREEN
gene: KIF12 was marked as current diagnostic
Added comment: Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense.
Sources: Literature
Cholestasis v1.3 Sarah Leigh Panel version has been signed off
Cholestasis v1.0 Ivone Leong promoted panel to version 1.0
Cholestasis v0.27 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Cholestasis v0.26 USP53 Ivone Leong Phenotypes for gene: USP53 were changed from to Paediatric cholestatic liver disease
Cholestasis v0.25 USP53 Ivone Leong Mode of inheritance for gene: USP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.24 Ivone Leong List of related panels changed from to R171
Cholestasis v0.22 USP53 Ivone Leong Classified gene: USP53 as Amber List (moderate evidence)
Cholestasis v0.22 USP53 Ivone Leong Added comment: Comment on list classification: Demoted to amber as awaiting further evidence.
Cholestasis v0.22 USP53 Ivone Leong Gene: usp53 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.21 BCS1L Anna de Burca edited their review of gene: BCS1L: Added comment: Following discussion with the NHS GMS gastrohepatology specialist group on 14.01.19, it was agreed that although the phenotype associated with this gene is generally broader than isolated cholestasis, it would be appropriate to include on this panel as this might be the first presenting feature.; Changed rating: GREEN
Cholestasis v0.21 VPS33B Ivone Leong Marked gene: VPS33B as ready
Cholestasis v0.21 VPS33B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 VPS33B Ivone Leong Gene: vps33b has been classified as Green List (High Evidence).
Cholestasis v0.21 VIPAS39 Ivone Leong Marked gene: VIPAS39 as ready
Cholestasis v0.21 VIPAS39 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 VIPAS39 Ivone Leong Gene: vipas39 has been classified as Green List (High Evidence).
Cholestasis v0.21 UGT1A1 Ivone Leong Marked gene: UGT1A1 as ready
Cholestasis v0.21 UGT1A1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 UGT1A1 Ivone Leong Gene: ugt1a1 has been classified as Green List (High Evidence).
Cholestasis v0.21 TJP2 Ivone Leong Marked gene: TJP2 as ready
Cholestasis v0.21 TJP2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 TJP2 Ivone Leong Gene: tjp2 has been classified as Green List (High Evidence).
Cholestasis v0.21 TALDO1 Ivone Leong Marked gene: TALDO1 as ready
Cholestasis v0.21 TALDO1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 TALDO1 Ivone Leong Gene: taldo1 has been classified as Green List (High Evidence).
Cholestasis v0.21 SLC25A13 Ivone Leong Marked gene: SLC25A13 as ready
Cholestasis v0.21 SLC25A13 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 SLC25A13 Ivone Leong Gene: slc25a13 has been classified as Green List (High Evidence).
Cholestasis v0.21 SERPINA1 Ivone Leong Marked gene: SERPINA1 as ready
Cholestasis v0.21 SERPINA1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 SERPINA1 Ivone Leong Gene: serpina1 has been classified as Green List (High Evidence).
Cholestasis v0.21 NR1H4 Ivone Leong Marked gene: NR1H4 as ready
Cholestasis v0.21 NR1H4 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 NR1H4 Ivone Leong Gene: nr1h4 has been classified as Green List (High Evidence).
Cholestasis v0.21 NPC2 Ivone Leong Marked gene: NPC2 as ready
Cholestasis v0.21 NPC2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 NPC2 Ivone Leong Gene: npc2 has been classified as Green List (High Evidence).
Cholestasis v0.21 NPC1 Ivone Leong Marked gene: NPC1 as ready
Cholestasis v0.21 NPC1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 NPC1 Ivone Leong Gene: npc1 has been classified as Green List (High Evidence).
Cholestasis v0.21 NOTCH2 Ivone Leong Marked gene: NOTCH2 as ready
Cholestasis v0.21 NOTCH2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 NOTCH2 Ivone Leong Gene: notch2 has been classified as Green List (High Evidence).
Cholestasis v0.21 MYO5B Ivone Leong Marked gene: MYO5B as ready
Cholestasis v0.21 MYO5B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 MYO5B Ivone Leong Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.21 JAG1 Ivone Leong Marked gene: JAG1 as ready
Cholestasis v0.21 JAG1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 JAG1 Ivone Leong Gene: jag1 has been classified as Green List (High Evidence).
Cholestasis v0.21 HSD3B7 Ivone Leong Marked gene: HSD3B7 as ready
Cholestasis v0.21 HSD3B7 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 HSD3B7 Ivone Leong Gene: hsd3b7 has been classified as Green List (High Evidence).
Cholestasis v0.21 DCDC2 Ivone Leong Marked gene: DCDC2 as ready
Cholestasis v0.21 DCDC2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 DCDC2 Ivone Leong Gene: dcdc2 has been classified as Green List (High Evidence).
Cholestasis v0.21 CYP27A1 Ivone Leong Marked gene: CYP27A1 as ready
Cholestasis v0.21 CYP27A1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 CYP27A1 Ivone Leong Gene: cyp27a1 has been classified as Green List (High Evidence).
Cholestasis v0.21 CLDN1 Ivone Leong Marked gene: CLDN1 as ready
Cholestasis v0.21 CLDN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 CLDN1 Ivone Leong Gene: cldn1 has been classified as Green List (High Evidence).
Cholestasis v0.21 BAAT Ivone Leong Marked gene: BAAT as ready
Cholestasis v0.21 BAAT Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 BAAT Ivone Leong Gene: baat has been classified as Green List (High Evidence).
Cholestasis v0.21 ATP8B1 Ivone Leong Marked gene: ATP8B1 as ready
Cholestasis v0.21 ATP8B1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 ATP8B1 Ivone Leong Gene: atp8b1 has been classified as Green List (High Evidence).
Cholestasis v0.21 AKR1D1 Ivone Leong Marked gene: AKR1D1 as ready
Cholestasis v0.21 AKR1D1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 AKR1D1 Ivone Leong Gene: akr1d1 has been classified as Green List (High Evidence).
Cholestasis v0.21 ABCB4 Ivone Leong Marked gene: ABCB4 as ready
Cholestasis v0.21 ABCB4 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 ABCB4 Ivone Leong Gene: abcb4 has been classified as Green List (High Evidence).
Cholestasis v0.21 ALDOB Ivone Leong Marked gene: ALDOB as ready
Cholestasis v0.21 ALDOB Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green
Cholestasis v0.21 ALDOB Ivone Leong Gene: aldob has been classified as Green List (High Evidence).
Cholestasis v0.21 AMACR Ivone Leong Marked gene: AMACR as ready
Cholestasis v0.21 AMACR Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 AMACR Ivone Leong Gene: amacr has been classified as Green List (High Evidence).
Cholestasis v0.21 AMACR Ivone Leong commented on gene: AMACR: Miranda Durkie (Sheffield Diagnostic Genetics Service) discussed with Simon Olpin (Sheffield Children's NHS Foundation Trust) about the inclusion of AMARC on this panel. He recommends that the gene remains as a green gene on the panel and that he has diagnosed 3 cases of AMARC deficiency in the clinic.
Cholestasis v0.21 ABCC2 Ivone Leong Marked gene: ABCC2 as ready
Cholestasis v0.21 ABCC2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 ABCC2 Ivone Leong Gene: abcc2 has been classified as Green List (High Evidence).
Cholestasis v0.21 ABCB11 Ivone Leong Marked gene: ABCB11 as ready
Cholestasis v0.21 ABCB11 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 ABCB11 Ivone Leong Gene: abcb11 has been classified as Green List (High Evidence).
Cholestasis v0.21 SERPINA1 Ivone Leong Publications for gene: SERPINA1 were set to 26126923; 26003074; 24750955
Cholestasis v0.20 GNAS Ivone Leong Marked gene: GNAS as ready
Cholestasis v0.20 GNAS Ivone Leong Gene: gnas has been classified as Amber List (Moderate Evidence).
Cholestasis v0.20 GNAS Ivone Leong Classified gene: GNAS as Amber List (moderate evidence)
Cholestasis v0.20 GNAS Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence for this gene to be rated green. Therefore, demoted from green to amber.
Cholestasis v0.20 GNAS Ivone Leong Gene: gnas has been classified as Amber List (Moderate Evidence).
Cholestasis v0.19 FAH Ivone Leong Classified gene: FAH as Green List (high evidence)
Cholestasis v0.19 FAH Ivone Leong Added comment: Comment on list classification: Promoted from red to green. As advised by the GMS Gastrohepatology Specialist group via email 15-01-2019. FAH is also a green gene on the Neonatal Cholestasis panel (Version 1.3).
Cholestasis v0.19 FAH Ivone Leong Gene: fah has been classified as Green List (High Evidence).
Cholestasis v0.17 FAH Ivone Leong gene: FAH was added
gene: FAH was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 26589959; 23311542; 11112833; 28755194; 28493866; 15759101
Phenotypes for gene: FAH were set to Neonatal and Adult Cholestasis; Tyrosinaemia, Type 1, 276700; Cholestasis
Cholestasis v0.16 ALDOB Ivone Leong Classified gene: ALDOB as Green List (high evidence)
Cholestasis v0.16 ALDOB Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. As advised by the GMS Gastrohepatology Specialist group via email 15-01-2019. ALDOB is also a green gene on the Neonatal Cholestasis panel (Version 1.3).
Cholestasis v0.16 ALDOB Ivone Leong Gene: aldob has been classified as Green List (High Evidence).
Cholestasis v0.15 PEX6 Ivone Leong Marked gene: PEX6 as ready
Cholestasis v0.15 PEX6 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Cholestasis v0.15 PEX6 Ivone Leong Gene: pex6 has been classified as Green List (High Evidence).
Cholestasis v0.15 PEX26 Ivone Leong Marked gene: PEX26 as ready
Cholestasis v0.15 PEX26 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Cholestasis v0.15 PEX26 Ivone Leong Gene: pex26 has been classified as Green List (High Evidence).
Cholestasis v0.15 PEX12 Ivone Leong Marked gene: PEX12 as ready
Cholestasis v0.15 PEX12 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Cholestasis v0.15 PEX12 Ivone Leong Gene: pex12 has been classified as Green List (High Evidence).
Cholestasis v0.15 PEX1 Ivone Leong Marked gene: PEX1 as ready
Cholestasis v0.15 PEX1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Cholestasis v0.15 PEX1 Ivone Leong Gene: pex1 has been classified as Green List (High Evidence).
Cholestasis v0.15 CC2D2A Ivone Leong Marked gene: CC2D2A as ready
Cholestasis v0.15 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Cholestasis v0.15 TMEM67 Ivone Leong Marked gene: TMEM67 as ready
Cholestasis v0.15 TMEM67 Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence).
Cholestasis v0.15 TMEM67 Ivone Leong Classified gene: TMEM67 as Green List (high evidence)
Cholestasis v0.15 TMEM67 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. Promoted from amber to green.
Cholestasis v0.15 TMEM67 Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence).
Cholestasis v0.14 RPGRIP1L Ivone Leong Marked gene: RPGRIP1L as ready
Cholestasis v0.14 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence).
Cholestasis v0.14 RPGRIP1L Ivone Leong Classified gene: RPGRIP1L as Green List (high evidence)
Cholestasis v0.14 RPGRIP1L Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. Promoted from amber to green.
Cholestasis v0.14 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence).
Cholestasis v0.13 CC2D2A Ivone Leong Classified gene: CC2D2A as Green List (high evidence)
Cholestasis v0.13 CC2D2A Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. Promoted from amber to green.
Cholestasis v0.13 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Cholestasis v0.11 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1L were set to 17558409; 19574260
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5 (611561); Joubert syndrome 7 (611560); COACH syndrome (216360)
Cholestasis v0.11 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to 28680603; 16415887; 26191240; 19058225
Phenotypes for gene: TMEM67 were set to COACH syndrome (216360); {Bardet-Biedl syndrome 14, modifier of} (615991); Nephronophthisis 11 (613550); Meckel syndrome 3 (607361); Joubert syndrome 6 (310688); congenital hepatic fibrosis
Cholestasis v0.10 SERPINA1 Anna de Burca reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30589493; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.10 PEX2 Ivone Leong Source Other was added to PEX2.
Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 for gene: PEX2
Publications for gene PEX2 were changed from to 14630978; 1546315; 2454948
Cholestasis v0.10 CC2D2A Ivone Leong Source Other was added to CC2D2A.
Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285 for gene: CC2D2A
Publications for gene CC2D2A were changed from to 27959436; 19574260; 18950740
Cholestasis v0.10 CYP7B1 Ivone Leong Source Other was added to CYP7B1.
Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7B1
Publications for gene CYP7B1 were changed from to 9802883
Cholestasis v0.10 ALDOB Ivone Leong Source Other was added to ALDOB.
Mode of inheritance for gene ALDOB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes acute liver failure; Neonatal and Adult Cholestasis; Fructose intolerance, hereditary for gene: ALDOB
Cholestasis v0.10 PEX12 Ivone Leong Source Other was added to PEX12.
Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 3B 266510; Peroxisome biogenesis disorder 3A (Zellweger) 614859 for gene: PEX12
Publications for gene PEX12 were changed from to 9090384; 9354782
Cholestasis v0.10 PEX26 Ivone Leong Source Other was added to PEX26.
Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger)614872 for gene: PEX26
Publications for gene PEX26 were changed from to 12851857; 17336976; 15858711
Cholestasis v0.10 PEX6 Ivone Leong Source Other was added to PEX6.
Mode of inheritance for gene PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 for gene: PEX6
Publications for gene PEX6 were changed from to 10408779; 8670792; 8940266
Cholestasis v0.10 SERPINA1 Ivone Leong Source Other was added to SERPINA1.
Mode of inheritance for gene SERPINA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Alpha-1 Antitrypsin Deficiency; Neonatal and Adult Cholestasis for gene: SERPINA1
Publications for gene SERPINA1 were changed from to 26126923; 26003074; 24750955
Cholestasis v0.10 PEX1 Ivone Leong Source Other was added to PEX1.
Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100; Zellweger syndrome; Neonatal and Adult Cholestasis for gene: PEX1
Publications for gene PEX1 were changed from to 9398848; 22871920; 9398847
Cholestasis v0.10 VPS33B Ivone Leong Source Other was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added 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 for gene: VPS33B
Cholestasis v0.10 VIPAS39 Ivone Leong Source Other was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Cholestasis v0.10 UGT1A1 Ivone Leong Source Other was added to UGT1A1.
Mode of inheritance for gene UGT1A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Gilbert syndrome] 143500; Crigler-Najjar syndrome, type I 218800; Neonatal and Adult Cholestasis; Crigler-Najjar syndrome, type II 606785; unconjugated jaundice for gene: UGT1A1
Publications for gene UGT1A1 were changed from to 11013440
Cholestasis v0.10 TJP2 Ivone Leong Source Other was added to TJP2.
Mode of inheritance for gene TJP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cholestasis, Progressive Familial Intrahepatic 4; Neonatal and Adult Cholestasis; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Cholestasis v0.10 TALDO1 Ivone Leong Source Other was added to TALDO1.
Mode of inheritance for gene TALDO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Transaldolase deficiency, 606003 for gene: TALDO1
Publications for gene TALDO1 were changed from to 18331807; 11283793; 21119539; 19299175; 23315216; 25388407; 29721915; 24097415
Cholestasis v0.10 SLC25A13 Ivone Leong Source Other was added to SLC25A13.
Mode of inheritance for gene SLC25A13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added 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 for gene: SLC25A13
Publications for gene SLC25A13 were changed from to 11343052; 11281457; 12424587
Cholestasis v0.10 NR1H4 Ivone Leong Source Other was added to NR1H4.
Mode of inheritance for gene NR1H4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ciliopathy; modifier of other genetic cholestatic conditions; Cholestasis, Progressive Familial Intrahepatic 5; Cholestasis, progressive familial intrahepatic 5, 617049; Neonatal and Adult Cholestasis for gene: NR1H4
Cholestasis v0.10 NPC2 Ivone Leong Source Other was added to NPC2.
Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Niemann-Pick disease type C2, 607625 for gene: NPC2
Publications for gene NPC2 were changed from to 17470133; 11567215; 11125141; 12955717
Cholestasis v0.10 NPC1 Ivone Leong Source Other was added to NPC1.
Mode of inheritance for gene NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Niemann-Pick disease, type D, 257220; Niemann-Pick disease type C1, 257220; Neonatal and Adult Cholestasis for gene: NPC1
Publications for gene NPC1 were changed from to 9634529; 10480349; 11545687; 10521290; 9211849; 24135395; 12554680; 11754101
Cholestasis v0.10 NOTCH2 Ivone Leong Source Other was added to NOTCH2.
Mode of inheritance for gene NOTCH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Alagille syndrome 2; Neonatal and Adult Cholestasis for gene: NOTCH2
Publications for gene NOTCH2 were changed from to 22209762; 16773578
Cholestasis v0.10 JAG1 Ivone Leong Mode of inheritance for gene JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Alagille syndrome 1, 118450; Neonatal and Adult Cholestasis; Alagille syndrome for gene: JAG1
Publications for gene JAG1 were changed from to 23881058
Cholestasis v0.10 HSD3B7 Ivone Leong Source Other was added to HSD3B7.
Mode of inheritance for gene HSD3B7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid sythesis defect, congenital, 1 607765; Neonatal and Adult Cholestasis for gene: HSD3B7
Publications for gene HSD3B7 were changed from to 12679481; 11067870
Cholestasis v0.10 GNAS Ivone Leong Source Other was added to GNAS.
Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GNAS was changed from to Other - please provide details in the comments
Added phenotypes Cholestasis; McCune-Albright syndrome for gene: GNAS
Publications for gene GNAS were changed from to 10673080
Cholestasis v0.10 DCDC2 Ivone Leong Source Other was added to DCDC2.
Mode of inheritance for gene DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sclerosing cholangitis, neonatal, 617394; PFIC type 5; Neonatal sclerosis cholangitis; Neonatal and Adult Cholestasis for gene: DCDC2
Publications for gene DCDC2 were changed from to 25557784; 27319779; 27469900
Cholestasis v0.10 CYP7A1 Ivone Leong Source Other was added to CYP7A1.
Mode of inheritance for gene CYP7A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7A1
Publications for gene CYP7A1 were changed from to 9802883
Cholestasis v0.10 CYP27A1 Ivone Leong Source Other was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Severe neonatal cholestasis; Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Publications for gene CYP27A1 were changed from to 9186905; 28937538; 16278884; 11903362; 8514861; 2019602; 12000359; 7915755
Cholestasis v0.10 CLDN1 Ivone Leong Source Other was added to CLDN1.
Mode of inheritance for gene CLDN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added 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 for gene: CLDN1
Publications for gene CLDN1 were changed from to 24641442; 16619213; 15521008; 12164927; 28154377; 29146216
Cholestasis v0.10 BCS1L Ivone Leong Source Other was added to BCS1L.
Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cholestasis; GRACILE syndrome for gene: BCS1L
Publications for gene BCS1L were changed from to 11528392; 12215968; 9792866
Cholestasis v0.10 BAAT Ivone Leong Source Other was added to BAAT.
Mode of inheritance for gene BAAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypercholanemia, Familial; Hypercholanemia, familial, 607748; fat soluble vitamin deficiency; Neonatal and Adult Cholestasis; cholestasis for gene: BAAT
Publications for gene BAAT were changed from to 23415802; 12704386
Cholestasis v0.10 ATP8B1 Ivone Leong Source Other was added to ATP8B1.
Mode of inheritance for gene ATP8B1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for gene ATP8B1 was changed from to Other - please provide details in the comments
Added 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 for gene: ATP8B1
Cholestasis v0.10 AMACR Ivone Leong Source Other was added to AMACR.
Mode of inheritance for gene AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 4 214950 for gene: AMACR
Publications for gene AMACR were changed from to 12512044; 10655068
Cholestasis v0.10 AKR1D1 Ivone Leong Source Other was added to AKR1D1.
Mode of inheritance for gene AKR1D1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added 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 for gene: AKR1D1
Cholestasis v0.10 ABCC2 Ivone Leong Source Other was added to ABCC2.
Mode of inheritance for gene ABCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes modifier in biliary atresia; Dubin Johnson syndrome; Cholestasis; intrahepatic cholestasis of pregnancy; Dubin-Johnson syndrome, 237500 for gene: ABCC2
Publications for gene ABCC2 were changed from to 11477083; 21044052; 9425227; 29499989; 12942343; 10053008; 29707407
Cholestasis v0.10 ABCB4 Ivone Leong Source Other was added to ABCB4.
Mode of inheritance for gene ABCB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for gene ABCB4 was changed from to Other - please provide details in the comments
Added 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 for gene: ABCB4
Cholestasis v0.10 ABCB11 Ivone Leong Source Other was added to ABCB11.
Mode of inheritance for gene ABCB11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene ABCB11 was changed from to Other - please provide details in the comments
Added 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 for gene: ABCB11
Cholestasis v0.9 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, 251850; Cholestasis; MYO5B associated disease
Cholestasis v0.8 MYO5B Ivone Leong Publications for gene: MYO5B were set to
Cholestasis v0.7 MYO5B Ivone Leong Mode of inheritance for gene: MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.6 USP53 Ivone Leong Publications for gene: USP53 were set to
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 MYO5B Anna de Burca reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28027573; Phenotypes: Cholestasis, Microvillus inclusion disease with cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.5 USP53 Anna de Burca reviewed gene: USP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30250217; Phenotypes: Paediatric cholestatic liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.4 PEX2 Ivone Leong Source Expert Review Amber was added to PEX2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 CC2D2A Ivone Leong Source Expert Review Amber was added to CC2D2A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 CYP7B1 Ivone Leong Source Expert Review Amber was added to CYP7B1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 ALDOB Ivone Leong Source Expert Review Amber was added to ALDOB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 PEX12 Ivone Leong Source Expert Review Green was added to PEX12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX26 Ivone Leong Source Expert Review Green was added to PEX26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX6 Ivone Leong Source Expert Review Green was added to PEX6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 SERPINA1 Ivone Leong Source Expert Review Green was added to SERPINA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX1 Ivone Leong Source Expert Review Green was added to PEX1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 USP53 Ivone Leong Source Expert Review Green was added to USP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 MYO5B Ivone Leong Source Expert Review Green was added to MYO5B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 VPS33B Ivone Leong Source Expert Review Green was added to VPS33B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 VIPAS39 Ivone Leong Source Expert Review Green was added to VIPAS39.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 UGT1A1 Ivone Leong Source Expert Review Green was added to UGT1A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 TJP2 Ivone Leong Source Expert Review Green was added to TJP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 TALDO1 Ivone Leong Source Expert Review Green was added to TALDO1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 SLC25A13 Ivone Leong Source Expert Review Green was added to SLC25A13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NR1H4 Ivone Leong Source Expert Review Green was added to NR1H4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NPC2 Ivone Leong Source Expert Review Green was added to NPC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NPC1 Ivone Leong Source Expert Review Green was added to NPC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NOTCH2 Ivone Leong Source Expert Review Green was added to NOTCH2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 JAG1 Ivone Leong Source Expert Review Green was added to JAG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 HSD3B7 Ivone Leong Source Expert Review Green was added to HSD3B7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 GNAS Ivone Leong Source Expert Review Green was added to GNAS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 DCDC2 Ivone Leong Source Expert Review Green was added to DCDC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CYP7A1 Ivone Leong Source Expert Review Green was added to CYP7A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CYP27A1 Ivone Leong Source Expert Review Green was added to CYP27A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CLDN1 Ivone Leong Source Expert Review Green was added to CLDN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 BCS1L Ivone Leong Source Expert Review Green was added to BCS1L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 BAAT Ivone Leong Source Expert Review Green was added to BAAT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ATP8B1 Ivone Leong Source Expert Review Green was added to ATP8B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 AMACR Ivone Leong Source Expert Review Green was added to AMACR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 AKR1D1 Ivone Leong Source Expert Review Green was added to AKR1D1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCC2 Ivone Leong Source Expert Review Green was added to ABCC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCB4 Ivone Leong Source Expert Review Green was added to ABCB4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCB11 Ivone Leong Source Expert Review Green was added to ABCB11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.3 PEX2 Ivone Leong reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CC2D2A Ivone Leong reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP7B1 Ivone Leong reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ALDOB Ivone Leong reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX12 Ivone Leong reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX26 Ivone Leong reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX6 Ivone Leong reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 SERPINA1 Ivone Leong reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX1 Ivone Leong reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 USP53 Ivone Leong reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 MYO5B Ivone Leong reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 VPS33B Ivone Leong reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 VIPAS39 Ivone Leong reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 UGT1A1 Ivone Leong reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 TJP2 Ivone Leong reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 TALDO1 Ivone Leong reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 SLC25A13 Ivone Leong reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NR1H4 Ivone Leong reviewed gene: NR1H4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NPC2 Ivone Leong reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NPC1 Ivone Leong reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NOTCH2 Ivone Leong reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 JAG1 Ivone Leong reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 HSD3B7 Ivone Leong reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 GNAS Ivone Leong reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 DCDC2 Ivone Leong reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP7A1 Ivone Leong reviewed gene: CYP7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP27A1 Ivone Leong reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CLDN1 Ivone Leong reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 BCS1L Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 BAAT Ivone Leong reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ATP8B1 Ivone Leong reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 AMACR Ivone Leong reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 AKR1D1 Ivone Leong reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCC2 Ivone Leong reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCB4 Ivone Leong reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCB11 Ivone Leong reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.2 PEX2 Ivone Leong gene: PEX2 was added
gene: PEX2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX2 was set to
Cholestasis v0.2 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CC2D2A was set to
Cholestasis v0.2 CYP7B1 Ivone Leong gene: CYP7B1 was added
gene: CYP7B1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP7B1 was set to
Cholestasis v0.2 ALDOB Ivone Leong gene: ALDOB was added
gene: ALDOB was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ALDOB was set to
Cholestasis v0.2 PEX12 Ivone Leong gene: PEX12 was added
gene: PEX12 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX12 was set to
Cholestasis v0.2 PEX26 Ivone Leong gene: PEX26 was added
gene: PEX26 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX26 was set to
Cholestasis v0.2 PEX6 Ivone Leong gene: PEX6 was added
gene: PEX6 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX6 was set to
Cholestasis v0.2 SERPINA1 Ivone Leong gene: SERPINA1 was added
gene: SERPINA1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: SERPINA1 was set to
Cholestasis v0.2 PEX1 Ivone Leong gene: PEX1 was added
gene: PEX1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX1 was set to
Cholestasis v0.2 USP53 Ivone Leong gene: USP53 was added
gene: USP53 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: USP53 was set to
Cholestasis v0.2 MYO5B Ivone Leong gene: MYO5B was added
gene: MYO5B was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: MYO5B was set to
Cholestasis v0.2 VPS33B Ivone Leong gene: VPS33B was added
gene: VPS33B was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: VPS33B was set to
Cholestasis v0.2 VIPAS39 Ivone Leong gene: VIPAS39 was added
gene: VIPAS39 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: VIPAS39 was set to
Cholestasis v0.2 UGT1A1 Ivone Leong gene: UGT1A1 was added
gene: UGT1A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: UGT1A1 was set to
Cholestasis v0.2 TJP2 Ivone Leong gene: TJP2 was added
gene: TJP2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: TJP2 was set to
Cholestasis v0.2 TALDO1 Ivone Leong gene: TALDO1 was added
gene: TALDO1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: TALDO1 was set to
Cholestasis v0.2 SLC25A13 Ivone Leong gene: SLC25A13 was added
gene: SLC25A13 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: SLC25A13 was set to
Cholestasis v0.2 NR1H4 Ivone Leong gene: NR1H4 was added
gene: NR1H4 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NR1H4 was set to
Cholestasis v0.2 NPC2 Ivone Leong gene: NPC2 was added
gene: NPC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NPC2 was set to
Cholestasis v0.2 NPC1 Ivone Leong gene: NPC1 was added
gene: NPC1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NPC1 was set to
Cholestasis v0.2 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NOTCH2 was set to
Cholestasis v0.2 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: JAG1 was set to
Cholestasis v0.2 HSD3B7 Ivone Leong gene: HSD3B7 was added
gene: HSD3B7 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: HSD3B7 was set to
Cholestasis v0.2 GNAS Ivone Leong gene: GNAS was added
gene: GNAS was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: GNAS was set to
Cholestasis v0.2 DCDC2 Ivone Leong gene: DCDC2 was added
gene: DCDC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: DCDC2 was set to
Cholestasis v0.2 CYP7A1 Ivone Leong gene: CYP7A1 was added
gene: CYP7A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP7A1 was set to
Cholestasis v0.2 CYP27A1 Ivone Leong gene: CYP27A1 was added
gene: CYP27A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP27A1 was set to
Cholestasis v0.2 CLDN1 Ivone Leong gene: CLDN1 was added
gene: CLDN1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CLDN1 was set to
Cholestasis v0.2 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: BCS1L was set to
Cholestasis v0.2 BAAT Ivone Leong gene: BAAT was added
gene: BAAT was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: BAAT was set to
Cholestasis v0.2 ATP8B1 Ivone Leong gene: ATP8B1 was added
gene: ATP8B1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ATP8B1 was set to
Cholestasis v0.2 AMACR Ivone Leong gene: AMACR was added
gene: AMACR was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: AMACR was set to
Cholestasis v0.2 AKR1D1 Ivone Leong gene: AKR1D1 was added
gene: AKR1D1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: AKR1D1 was set to
Cholestasis v0.2 ABCC2 Ivone Leong gene: ABCC2 was added
gene: ABCC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCC2 was set to
Cholestasis v0.2 ABCB4 Ivone Leong gene: ABCB4 was added
gene: ABCB4 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCB4 was set to
Cholestasis v0.2 ABCB11 Ivone Leong gene: ABCB11 was added
gene: ABCB11 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCB11 was set to
Cholestasis v0.0 Ellen McDonagh Added Panel Cholestasis
Set panel types to: GMS Rare Disease