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Cholestasis v0.240 VPS50 Ain Roesley changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
severe ID, muscular hypotonia, sensorineural hearing impairment, microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Cholestasis v0.240 VPS50 Ain Roesley Classified gene: VPS50 as Green List (high evidence)
Cholestasis v0.240 VPS50 Ain Roesley Gene: vps50 has been classified as Green List (High Evidence).
Cholestasis v0.239 VPS50 Ain Roesley changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively. The 428kb deletion spans the entire VPS50 gene.

Sanger confirmed the Lys5* to be 'homozygous' in the proband.

Phenotypes include:
microcephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive
Cholestasis v0.239 VPS50 Ain Roesley reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cholestasis v0.239 HSD3B7 Zornitza Stark Marked gene: HSD3B7 as ready
Cholestasis v0.239 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Cholestasis v0.239 HSD3B7 Zornitza Stark Phenotypes for gene: HSD3B7 were changed from to Bile acid synthesis defect, congenital, 1 MIM#607765
Cholestasis v0.238 HSD3B7 Zornitza Stark Mode of inheritance for gene: HSD3B7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.237 HSD3B7 Zornitza Stark Tag treatable tag was added to gene: HSD3B7.
Cholestasis v0.237 HSD3B7 Zornitza Stark reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.237 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Cholestasis v0.237 Zornitza Stark List of related panels changed from to Cholestasis HP:0001396
Cholestasis v0.236 GALT Zornitza Stark Marked gene: GALT as ready
Cholestasis v0.236 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Cholestasis v0.236 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Cholestasis v0.236 LSR Elena Savva reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32303357, 30250217, 15265030; Phenotypes: transient neonatal cholestasis, intellectual disability, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.236 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Cholestasis v0.236 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Cholestasis v0.236 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM# 229600
Cholestasis v0.235 ALDOB Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.234 ALDOB Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.234 ALDOB Zornitza Stark Tag treatable tag was added to gene: ALDOB.
Cholestasis v0.234 BAAT Zornitza Stark Marked gene: BAAT as ready
Cholestasis v0.234 BAAT Zornitza Stark Gene: baat has been classified as Green List (High Evidence).
Cholestasis v0.234 AKR1D1 Zornitza Stark Tag treatable tag was added to gene: AKR1D1.
Cholestasis v0.234 FOCAD Zornitza Stark changed review comment from: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).
Sources: Expert Review; to: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).

Cholestasis is a feature.


Sources: Expert Review
Cholestasis v0.234 FOCAD Zornitza Stark Marked gene: FOCAD as ready
Cholestasis v0.234 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Cholestasis v0.234 FOCAD Zornitza Stark Classified gene: FOCAD as Green List (high evidence)
Cholestasis v0.234 FOCAD Zornitza Stark Gene: focad has been classified as Green List (High Evidence).
Cholestasis v0.233 FOCAD Zornitza Stark gene: FOCAD was added
gene: FOCAD was added to Cholestasis. Sources: Expert Review
Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOCAD were set to 35864190
Phenotypes for gene: FOCAD were set to Liver disease, severe congenital, MIM# 619991
Review for gene: FOCAD was set to GREEN
Added comment: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).
Sources: Expert Review
Cholestasis v0.232 SEMA7A Zornitza Stark Marked gene: SEMA7A as ready
Cholestasis v0.232 SEMA7A Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence).
Cholestasis v0.232 SEMA7A Zornitza Stark Classified gene: SEMA7A as Amber List (moderate evidence)
Cholestasis v0.232 SEMA7A Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence).
Cholestasis v0.231 SEMA7A Zornitza Stark gene: SEMA7A was added
gene: SEMA7A was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: SEMA7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA7A were set to 34585848
Phenotypes for gene: SEMA7A were set to Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874
Review for gene: SEMA7A was set to AMBER
Added comment: Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype.
Sources: Expert list
Cholestasis v0.230 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Cholestasis v0.230 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Cholestasis v0.230 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Cholestasis v0.229 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Cholestasis v0.228 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Cholestasis v0.228 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Cholestasis v0.228 SERPINA1 Zornitza Stark Phenotypes for gene: SERPINA1 were changed from to Emphysema due to AAT deficiency, MIM#613490; Emphysema-cirrhosis, due to AAT deficiency, MIM#613490; Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490; alpha 1-antitrypsin deficiency, MONDO#0013282
Cholestasis v0.227 SERPINA1 Zornitza Stark Publications for gene: SERPINA1 were set to
Cholestasis v0.226 SERPINA1 Zornitza Stark Mode of inheritance for gene: SERPINA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.225 SERPINA1 Samantha Ayres reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301692, 9041988, 34408829; Phenotypes: Emphysema due to AAT deficiency, MIM#613490, Emphysema-cirrhosis, due to AAT deficiency, MIM#613490, Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490, alpha 1-antitrypsin deficiency, MONDO#0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.225 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Cholestasis v0.225 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Cholestasis v0.225 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205)
Cholestasis v0.224 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Cholestasis v0.223 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.222 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.222 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.222 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803)
Cholestasis v0.221 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to 8666348; 17726488
Cholestasis v0.220 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cholestasis v0.219 ABCB4 Lucy Spencer reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18482588, 28924228, 32376413; Phenotypes: Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cholestasis v0.219 VPS50 Zornitza Stark Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum
Cholestasis v0.218 VPS50 Zornitza Stark edited their review of gene: VPS50: Changed phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685, Neonatal cholestatic liver disease, Failure to thrive, Profound global developmental delay, Postnatal microcephaly, Seizures, Abnormality of the corpus callosum
Cholestasis v0.218 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Cholestasis v0.218 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Cholestasis v0.218 ATP8B1 Zornitza Stark Publications for gene: ATP8B1 were set to
Cholestasis v0.217 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cholestasis v0.216 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300, Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Cholestasis v0.216 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.; to: Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Cholestasis v0.216 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Cholestasis v0.216 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300; Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Cholestasis v0.215 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.214 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300
Cholestasis v0.214 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15239083; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.214 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis, progressive familial intrahepatic, 8 619662 to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Cholestasis v0.213 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8 619662
Cholestasis v0.212 KIF12 Zornitza Stark edited their review of gene: KIF12: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Cholestasis v0.212 USP53 Zornitza Stark Publications for gene: USP53 were set to 30250217; 32124521
Cholestasis v0.211 USP53 Zornitza Stark changed review comment from: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature
Cholestasis v0.211 USP53 Zornitza Stark edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013
Cholestasis v0.211 USP53 Zornitza Stark Phenotypes for gene: USP53 were changed from Cholestasis; deafness to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Cholestasis v0.210 USP53 Zornitza Stark edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Cholestasis v0.210 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Cholestasis v0.210 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.210 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Cholestasis v0.210 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.209 MMP15 Zornitza Stark 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 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: Literature
Cholestasis v0.208 ADK Zornitza Stark Publications for gene: ADK were set to 21963049; 17120046
Cholestasis v0.207 ADK Zornitza Stark Classified gene: ADK as Green List (high evidence)
Cholestasis v0.207 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Cholestasis v0.206 ADK Zornitza Stark edited their review of gene: ADK: Added comment: Additional cases with neonatal cholestasis.; Changed rating: GREEN; Changed publications: 21963049, 17120046, 33309011
Cholestasis v0.206 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cholestasis v0.205 TTC26 Zornitza Stark Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Cholestasis v0.204 TTC26 Zornitza Stark edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Cholestasis v0.204 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#124000 to GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400
Cholestasis v0.203 BCS1L Zornitza Stark edited their review of gene: BCS1L: Changed phenotypes: GRACILE syndrome, MIM# 603358, Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400
Cholestasis v0.203 BCS1L Zornitza Stark edited their review of gene: BCS1L: Changed phenotypes: GRACILE syndrome, MIM# 603358, Mitochondrial complex III deficiency, nuclear type 1 , MIM#12400
Cholestasis v0.203 SLC51A Zornitza Stark Marked gene: SLC51A as ready
Cholestasis v0.203 SLC51A Zornitza Stark Gene: slc51a has been classified as Red List (Low Evidence).
Cholestasis v0.203 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 v0.202 SLC51B Zornitza Stark Marked gene: SLC51B as ready
Cholestasis v0.202 SLC51B Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence).
Cholestasis v0.202 SLC51B Zornitza Stark gene: SLC51B was added
gene: SLC51B was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC51B were set to 28898457
Phenotypes for gene: SLC51B were set to Bile acid malabsorption, primary, 2, MIM# 619481; Congenital diarrhoea; Cholestasis
Review for gene: SLC51B was set to RED
Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis.
Sources: Literature
Cholestasis v0.201 VPS50 Zornitza Stark Marked gene: VPS50 as ready
Cholestasis v0.201 VPS50 Zornitza Stark Gene: vps50 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.201 VPS50 Zornitza Stark Classified gene: VPS50 as Amber List (moderate evidence)
Cholestasis v0.201 VPS50 Zornitza Stark Gene: vps50 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.200 VPS50 Zornitza Stark gene: VPS50 was added
gene: VPS50 was added to Cholestasis. Sources: Literature
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
Review for gene: VPS50 was set to AMBER
Added comment: Schneeberger et al (2021 - PMID: 34037727) describe the phenotype of 2 unrelated individuals with biallelic VPS50 variants.

Common features included transient neonatal cholestasis, failure to thrive, severe DD with failure to achieve milestones (last examination at 2y and 2y2m respectively), postnatal microcephaly, seizures (onset at 6m and 25m) and irritability. There was corpus callosum hypoplasia on brain imaging.

Both individuals were homozygous for variants private to each family (no/not known consanguinity applying to each case). The first individual was homozygous for a splicing variant (NM_017667.4:c.1978-1G>T) and had a similarly unaffected sister deceased with no available DNA for testing. The other individual was homozygous for an in-frame deletion (c.1823_1825delCAA / p.(Thr608del)).

VPS50 encodes a critical component of the endosome-associated recycling protein (EARP) complex, which functions in recycling endocytic vesicles back to the plasma membrane [OMIM based on Schindler et al]. The complex contains VPS50, VPS51, VPS52, VPS53, the three latter also being components of GARP (Golgi-associated-retrograde protein) complex. GARP contains VPS54 instead of VPS50 and is required for trafficking of proteins to the trans-golgi network. Thus VPS50 (also named syndetin) and VPS54 function in the EARP and GARP complexes, to define directional movement of their endocytic vesicles [OMIM based on Schindler et al]. The VPS50 subunit is required for recycling of the transferrin receptor.

As discussed by Schneeberger et al (refs provided in text):
- VPS50 has a high expression in mouse and human brain as well as throughout mouse brain development.
- Mice deficient for Vps50 have not been reported. vps50 knockdown in zebrafish results in severe developmental defects of the body axis. Knockout mice for other proteins of the EARP/GARP complex (e.g. Vps52, 53 and 54) display embryonic lethality.

Studies performed by Schneeberger et al included:
- Transcript analysis for the 1st variant demonstrated skipping of ex21 (in patient derived fabriblasts) leading to an in frame deletion of 81 bp (r.1978_2058del) with predicted loss of 27 residues (p.Leu660_Leu686del).
- Similar VPS50 mRNA levels but significant reduction of protein levels (~5% and ~8% of controls) were observed in fibroblasts from patients 1 and 2. Additionally, significant reductions in the amounts of VPS52 and VPS53 protein levels were observed despite mRNA levels similar to controls. Overall, this suggested drastic reduction of functional EARP complex levels.
- Lysosomes appeared to have similar morphology, cellular distribution and likely unaffected function in patient fibroblasts.
- Transferrin receptor recycling was shown to be delayed in patient fibroblasts suggestive of compromise of endocytic-recycling function.

As the authors comment, the phenotype of both individuals with biallelic VPS50 variants overlaps with the corresponding phenotype reported in 15 subjects with biallelic VPS53 or VPS51 mutations notably, severe DD/ID, microcephaly and early onset epilepsy, CC anomalies. Overall, for this group, they propose the term "GARP and/or EARP deficiency disorders".

There is no VPS50-associated phenotype in OMIM or G2P. SysID includes VPS50 among the ID candidate genes.
Sources: Literature
Cholestasis v0.199 ABCC2 Zornitza Stark Marked gene: ABCC2 as ready
Cholestasis v0.199 ABCC2 Zornitza Stark Gene: abcc2 has been classified as Green List (High Evidence).
Cholestasis v0.199 ABCC2 Zornitza Stark Phenotypes for gene: ABCC2 were changed from to Dubin-Johnson syndrome, MIM# 237500
Cholestasis v0.198 ABCC2 Zornitza Stark Mode of inheritance for gene: ABCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.197 ABCC2 Zornitza Stark reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.197 TTC26 Zornitza Stark changed review comment from: Three unrelated families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature; to: 7 families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature
Cholestasis v0.197 TTC26 Zornitza Stark Marked gene: TTC26 as ready
Cholestasis v0.197 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Cholestasis v0.197 TTC26 Zornitza Stark Classified gene: TTC26 as Green List (high evidence)
Cholestasis v0.197 TTC26 Zornitza Stark Gene: ttc26 has been classified as Green List (High Evidence).
Cholestasis v0.196 TTC26 Zornitza Stark gene: TTC26 was added
gene: TTC26 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903
Phenotypes for gene: TTC26 were set to Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Review for gene: TTC26 was set to GREEN
Added comment: Three unrelated families and functional data including zebrafish model. Cholestasis prominent.
Sources: Literature
Cholestasis v0.195 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Cholestasis v0.195 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Cholestasis v0.195 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism
Cholestasis v0.194 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to
Cholestasis v0.193 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.192 ABCB4 Zornitza Stark reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 8666348, 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.192 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Cholestasis v0.191 UNC45A Zornitza Stark edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing
Cholestasis v0.191 BAAT Zornitza Stark Phenotypes for gene: BAAT were changed from to Bile acid conjugation defect 1, MIM# 619232
Cholestasis v0.190 BAAT Zornitza Stark Publications for gene: BAAT were set to
Cholestasis v0.189 BAAT Zornitza Stark Mode of inheritance for gene: BAAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.188 BAAT Zornitza Stark reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 12704386, 23415802; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.187 TJP2 Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.186 TJP2 Zornitza Stark reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.186 NR1H4 Zornitza Stark Marked gene: NR1H4 as ready
Cholestasis v0.186 NR1H4 Zornitza Stark Gene: nr1h4 has been classified as Green List (High Evidence).
Cholestasis v0.186 NR1H4 Zornitza Stark Phenotypes for gene: NR1H4 were changed from to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049
Cholestasis v0.185 NR1H4 Zornitza Stark Publications for gene: NR1H4 were set to
Cholestasis v0.184 NR1H4 Zornitza Stark Mode of inheritance for gene: NR1H4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.183 NR1H4 Zornitza Stark reviewed gene: NR1H4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26888176, 32443034; Phenotypes: Cholestasis, progressive familial intrahepatic, 5, MIM# 617049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.183 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Cholestasis v0.183 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence).
Cholestasis v0.183 AKR1D1 Zornitza Stark Phenotypes for gene: AKR1D1 were changed from to Bile acid synthesis defect, congenital, 2, MIM# 235555
Cholestasis v0.182 AKR1D1 Zornitza Stark Publications for gene: AKR1D1 were set to
Cholestasis v0.181 AKR1D1 Zornitza Stark Mode of inheritance for gene: AKR1D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.180 AKR1D1 Zornitza Stark reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.180 SLC27A5 Zornitza Stark Phenotypes for gene: SLC27A5 were changed from to Disorder of bile acid metabolism
Cholestasis v0.179 SLC27A5 Zornitza Stark edited their review of gene: SLC27A5: Changed phenotypes: Disorder of bile acid metabolism
Cholestasis v0.179 ZFYVE19 Zornitza Stark Marked gene: ZFYVE19 as ready
Cholestasis v0.179 ZFYVE19 Zornitza Stark Gene: zfyve19 has been classified as Green List (High Evidence).
Cholestasis v0.179 ZFYVE19 Zornitza Stark Classified gene: ZFYVE19 as Green List (high evidence)
Cholestasis v0.179 ZFYVE19 Zornitza Stark Gene: zfyve19 has been classified as Green List (High Evidence).
Cholestasis v0.178 ZFYVE19 Zornitza Stark 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 v0.177 ABCB11 Zornitza Stark Publications for gene: ABCB11 were set to 23141890
Cholestasis v0.176 ABCB11 Zornitza Stark reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 16871584, 23141890, 9806540, 15300568, 11172067; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.176 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Cholestasis v0.176 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Cholestasis v0.176 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Cholestasis v0.175 UNC45A Zornitza Stark Publications for gene: UNC45A were set to
Cholestasis v0.174 UNC45A Zornitza Stark Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.173 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.173 TRMU Zornitza Stark Marked gene: TRMU as ready
Cholestasis v0.173 TRMU Zornitza Stark Gene: trmu has been classified as Amber List (Moderate Evidence).
Cholestasis v0.173 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070
Cholestasis v0.172 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.171 TRMU Zornitza Stark Classified gene: TRMU as Amber List (moderate evidence)
Cholestasis v0.171 TRMU Zornitza Stark Gene: trmu has been classified as Amber List (Moderate Evidence).
Cholestasis v0.170 TRMU Zornitza Stark reviewed gene: TRMU: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Liver failure, transient infantile, MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.170 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Cholestasis v0.170 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Cholestasis v0.170 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Meckel syndrome 2, MIM# 603194
Cholestasis v0.169 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.168 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Cholestasis v0.168 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Cholestasis v0.167 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.167 TFR2 Zornitza Stark Classified gene: TFR2 as Red List (low evidence)
Cholestasis v0.167 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Cholestasis v0.166 TFR2 Zornitza Stark changed review comment from: Multiple families reported.; to: Multiple families reported but cirrhosis rather than cholestasis.
Cholestasis v0.166 TFR2 Zornitza Stark edited their review of gene: TFR2: Changed rating: RED
Cholestasis v0.166 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Cholestasis v0.166 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Red List (Low Evidence).
Cholestasis v0.166 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease
Cholestasis v0.165 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.164 SMPD1 Zornitza Stark Classified gene: SMPD1 as Red List (low evidence)
Cholestasis v0.164 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Red List (Low Evidence).
Cholestasis v0.163 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.163 SLC40A1 Zornitza Stark Marked gene: SLC40A1 as ready
Cholestasis v0.163 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Red List (Low Evidence).
Cholestasis v0.163 SLC40A1 Zornitza Stark Phenotypes for gene: SLC40A1 were changed from to Hemochromatosis, type 4, MIM# 606069
Cholestasis v0.162 SLC40A1 Zornitza Stark Mode of inheritance for gene: SLC40A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.161 SLC40A1 Zornitza Stark Classified gene: SLC40A1 as Red List (low evidence)
Cholestasis v0.161 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Red List (Low Evidence).
Cholestasis v0.160 SLC40A1 Zornitza Stark reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 4, MIM# 606069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.160 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Cholestasis v0.160 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Red List (Low Evidence).
Cholestasis v0.160 SLC30A10 Zornitza Stark Phenotypes for gene: SLC30A10 were changed from to Hypermanganesemia with dystonia 1, MIM# 613280
Cholestasis v0.159 SLC30A10 Zornitza Stark Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.158 SLC30A10 Zornitza Stark Classified gene: SLC30A10 as Red List (low evidence)
Cholestasis v0.158 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Red List (Low Evidence).
Cholestasis v0.157 SLC30A10 Zornitza Stark reviewed gene: SLC30A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermanganesemia with dystonia 1, MIM# 613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.157 POLG Zornitza Stark Marked gene: POLG as ready
Cholestasis v0.157 POLG Zornitza Stark Gene: polg has been classified as Red List (Low Evidence).
Cholestasis v0.157 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Cholestasis v0.156 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.155 POLG Zornitza Stark Classified gene: POLG as Red List (low evidence)
Cholestasis v0.155 POLG Zornitza Stark Gene: polg has been classified as Red List (Low Evidence).
Cholestasis v0.154 POLG Zornitza Stark reviewed gene: POLG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.154 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Cholestasis v0.154 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Cholestasis v0.154 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Cholestasis v0.153 PKHD1 Zornitza Stark Publications for gene: PKHD1 were set to
Cholestasis v0.152 PKHD1 Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.151 PKHD1 Zornitza Stark reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30366773, 25771912, 8616994; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.151 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Cholestasis v0.151 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Cholestasis v0.151 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110
Cholestasis v0.150 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.150 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.149 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Cholestasis v0.149 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Cholestasis v0.148 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.148 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Cholestasis v0.148 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Cholestasis v0.148 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882
Cholestasis v0.147 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.146 PEX5 Zornitza Stark Classified gene: PEX5 as Red List (low evidence)
Cholestasis v0.146 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Cholestasis v0.145 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.145 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Cholestasis v0.145 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Cholestasis v0.145 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886
Cholestasis v0.144 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.143 PEX3 Zornitza Stark Classified gene: PEX3 as Red List (low evidence)
Cholestasis v0.143 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Cholestasis v0.142 PEX3 Zornitza Stark reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.142 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Cholestasis v0.142 PEX19 Zornitza Stark Gene: pex19 has been classified as Red List (Low Evidence).
Cholestasis v0.142 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876
Cholestasis v0.141 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Cholestasis v0.140 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.139 PEX19 Zornitza Stark Classified gene: PEX19 as Red List (low evidence)
Cholestasis v0.139 PEX19 Zornitza Stark Gene: pex19 has been classified as Red List (Low Evidence).
Cholestasis v0.138 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: RED; Mode of pathogenicity: None; Publications: 20683989; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.138 PEX16 Zornitza Stark Classified gene: PEX16 as Red List (low evidence)
Cholestasis v0.138 PEX16 Zornitza Stark Gene: pex16 has been classified as Red List (Low Evidence).
Cholestasis v0.137 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Cholestasis v0.137 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Cholestasis v0.137 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Cholestasis v0.136 PEX16 Zornitza Stark Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.135 PEX16 Zornitza Stark reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.135 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Cholestasis v0.135 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.135 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Cholestasis v0.134 PEX14 Zornitza Stark Publications for gene: PEX14 were set to
Cholestasis v0.133 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.132 PEX14 Zornitza Stark Classified gene: PEX14 as Amber List (moderate evidence)
Cholestasis v0.132 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.131 PEX14 Zornitza Stark reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 21686775, 18285423; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.131 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Cholestasis v0.131 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Cholestasis v0.131 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883
Cholestasis v0.130 PEX13 Zornitza Stark Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.129 PEX13 Zornitza Stark Classified gene: PEX13 as Red List (low evidence)
Cholestasis v0.129 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Cholestasis v0.128 PEX13 Zornitza Stark reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.128 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Cholestasis v0.128 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Cholestasis v0.128 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B, MIM# 614920
Cholestasis v0.127 PEX11B Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.126 PEX11B Zornitza Stark Classified gene: PEX11B as Red List (low evidence)
Cholestasis v0.126 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Cholestasis v0.125 PEX11B Zornitza Stark reviewed gene: PEX11B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 14B, MIM# 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.125 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Cholestasis v0.125 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Cholestasis v0.125 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870
Cholestasis v0.124 PEX10 Zornitza Stark Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.123 PEX10 Zornitza Stark Classified gene: PEX10 as Red List (low evidence)
Cholestasis v0.123 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Cholestasis v0.122 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.122 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Cholestasis v0.122 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Cholestasis v0.122 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Cholestasis v0.121 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.120 NPHP4 Zornitza Stark Classified gene: NPHP4 as Red List (low evidence)
Cholestasis v0.120 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Cholestasis v0.119 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.119 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Cholestasis v0.119 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Cholestasis v0.119 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Cholestasis v0.118 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Cholestasis v0.117 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.116 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931, 20007846, 32341812; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.116 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Cholestasis v0.116 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cholestasis v0.116 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4 609583; Nephronophthisis 1, juvenile ,MIM# 256100; Senior-Loken syndrome-1 , MIM#266900
Cholestasis v0.115 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.114 NPHP1 Zornitza Stark Classified gene: NPHP1 as Red List (low evidence)
Cholestasis v0.114 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cholestasis v0.113 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4 609583, Nephronophthisis 1, juvenile ,MIM# 256100, Senior-Loken syndrome-1 , MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.113 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Cholestasis v0.113 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.113 MYO5B Zornitza Stark Classified gene: MYO5B as Green List (high evidence)
Cholestasis v0.113 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.112 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO5B were set to 28027573; 27532546
Phenotypes for gene: MYO5B were set to Cholestasis; Microvillus inclusion disease, MIM#251850
Review for gene: MYO5B was set to GREEN
Added comment: Cholestasis has been reported in association with microvillus inclusion disease, but PMID: 28027573 and PMID: 27532546 also report cholestasis with normal or low γ‐glutamyltransferase activity, without diarrhoea, in a total of 13 unrelated individuals with biallelic variants in MYO5B. The youngest proband presented at 2 days of age, although in most cases the onset of symptoms was at more than one month of age.
Sources: Expert list
Cholestasis v0.111 MVK Zornitza Stark Marked gene: MVK as ready
Cholestasis v0.111 MVK Zornitza Stark Gene: mvk has been classified as Red List (Low Evidence).
Cholestasis v0.111 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Mevalonic aciduria, MIM# 610377
Cholestasis v0.110 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.109 MVK Zornitza Stark Classified gene: MVK as Red List (low evidence)
Cholestasis v0.109 MVK Zornitza Stark Gene: mvk has been classified as Red List (Low Evidence).
Cholestasis v0.108 MVK Zornitza Stark reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.108 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Cholestasis v0.108 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Cholestasis v0.108 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Cholestasis v0.107 MPV17 Zornitza Stark Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.106 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.106 MPI Zornitza Stark Marked gene: MPI as ready
Cholestasis v0.106 MPI Zornitza Stark Gene: mpi has been classified as Amber List (Moderate Evidence).
Cholestasis v0.106 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579
Cholestasis v0.105 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.104 MPI Zornitza Stark Classified gene: MPI as Amber List (moderate evidence)
Cholestasis v0.104 MPI Zornitza Stark Gene: mpi has been classified as Amber List (Moderate Evidence).
Cholestasis v0.103 MPI Zornitza Stark reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.103 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Cholestasis v0.103 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Cholestasis v0.103 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Meckel syndrome 1, MIM# 249000
Cholestasis v0.102 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.101 MKS1 Zornitza Stark Classified gene: MKS1 as Red List (low evidence)
Cholestasis v0.101 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Cholestasis v0.100 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 1, MIM# 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.100 LIPA Zornitza Stark Marked gene: LIPA as ready
Cholestasis v0.100 LIPA Zornitza Stark Gene: lipa has been classified as Amber List (Moderate Evidence).
Cholestasis v0.100 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000
Cholestasis v0.99 LIPA Zornitza Stark Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.98 LIPA Zornitza Stark Classified gene: LIPA as Amber List (moderate evidence)
Cholestasis v0.98 LIPA Zornitza Stark Gene: lipa has been classified as Amber List (Moderate Evidence).
Cholestasis v0.97 LIPA Zornitza Stark reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.97 LARS Zornitza Stark Classified gene: LARS as Amber List (moderate evidence)
Cholestasis v0.97 LARS Zornitza Stark Gene: lars has been classified as Amber List (Moderate Evidence).
Cholestasis v0.96 LARS Zornitza Stark changed review comment from: Six unrelated families reported in the literature, reviewed in PMID: 30349989.; to: Six unrelated families reported in the literature, reviewed in PMID: 30349989. However, presenting phenotype is that of liver failure rather than cholestasis.
Cholestasis v0.96 LARS Zornitza Stark edited their review of gene: LARS: Changed rating: AMBER
Cholestasis v0.96 INVS Zornitza Stark Marked gene: INVS as ready
Cholestasis v0.96 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Cholestasis v0.96 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, MIM# 602088
Cholestasis v0.95 INVS Zornitza Stark Publications for gene: INVS were set to
Cholestasis v0.94 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.93 INVS Zornitza Stark Classified gene: INVS as Red List (low evidence)
Cholestasis v0.93 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Cholestasis v0.92 INVS Zornitza Stark reviewed gene: INVS: Rating: RED; Mode of pathogenicity: None; Publications: 10421642; Phenotypes: Nephronophthisis 2, infantile, MIM# 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.92 IARS Zornitza Stark Tag new gene name tag was added to gene: IARS.
Cholestasis v0.92 IARS Zornitza Stark Publications for gene: IARS were set to 27426735
Cholestasis v0.91 IARS Zornitza Stark Classified gene: IARS as Amber List (moderate evidence)
Cholestasis v0.91 IARS Zornitza Stark Gene: iars has been classified as Amber List (Moderate Evidence).
Cholestasis v0.90 IARS Zornitza Stark reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.90 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Cholestasis v0.90 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Cholestasis v0.90 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Cholestasis v0.89 HNF1B Zornitza Stark Publications for gene: HNF1B were set to
Cholestasis v0.88 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.87 HNF1B Zornitza Stark reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324003, 29727438, 30791938, 25741167; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.87 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Cholestasis v0.87 HFE2 Zornitza Stark Gene: hfe2 has been classified as Red List (Low Evidence).
Cholestasis v0.87 HFE2 Zornitza Stark Phenotypes for gene: HFE2 were changed from to Hemochromatosis, type 2A, MIM# 602390
Cholestasis v0.86 HFE2 Zornitza Stark Mode of inheritance for gene: HFE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.85 HFE2 Zornitza Stark Classified gene: HFE2 as Red List (low evidence)
Cholestasis v0.85 HFE2 Zornitza Stark Gene: hfe2 has been classified as Red List (Low Evidence).
Cholestasis v0.84 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Cholestasis v0.84 HFE2 Zornitza Stark reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, MIM# 602390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.84 HFE Zornitza Stark Marked gene: HFE as ready
Cholestasis v0.84 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Cholestasis v0.84 HFE Zornitza Stark Phenotypes for gene: HFE were changed from to Hemochromatosis, MIM# 235200
Cholestasis v0.83 HFE Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.82 HFE Zornitza Stark Classified gene: HFE as Red List (low evidence)
Cholestasis v0.82 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Cholestasis v0.81 HFE Zornitza Stark reviewed gene: HFE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.81 HAMP Zornitza Stark Marked gene: HAMP as ready
Cholestasis v0.81 HAMP Zornitza Stark Gene: hamp has been classified as Red List (Low Evidence).
Cholestasis v0.81 HAMP Zornitza Stark Phenotypes for gene: HAMP were changed from to Hemochromatosis, type 2B, MIM# 613313
Cholestasis v0.80 HAMP Zornitza Stark Publications for gene: HAMP were set to
Cholestasis v0.79 HAMP Zornitza Stark Mode of inheritance for gene: HAMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.78 HAMP Zornitza Stark Classified gene: HAMP as Red List (low evidence)
Cholestasis v0.78 HAMP Zornitza Stark Gene: hamp has been classified as Red List (Low Evidence).
Cholestasis v0.77 HAMP Zornitza Stark reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: None; Publications: 12469120; Phenotypes: Hemochromatosis, type 2B, MIM# 613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.77 HADHA Zornitza Stark Marked gene: HADHA as ready
Cholestasis v0.77 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Cholestasis v0.77 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016; Mitochondrial trifunctional protein deficiency, MIM# 609015
Cholestasis v0.76 HADHA Zornitza Stark Publications for gene: HADHA were set to
Cholestasis v0.75 HADHA Zornitza Stark Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.74 HADHA Zornitza Stark Classified gene: HADHA as Red List (low evidence)
Cholestasis v0.74 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Cholestasis v0.73 HADHA Zornitza Stark reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: None; Publications: 9003853; Phenotypes: LCHAD deficiency, MIM# 609016, Mitochondrial trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.73 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Cholestasis v0.73 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Cholestasis v0.73 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500
Cholestasis v0.72 GBE1 Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.71 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM# 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.71 GBA Zornitza Stark Marked gene: GBA as ready
Cholestasis v0.71 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Cholestasis v0.71 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease
Cholestasis v0.70 GBA Zornitza Stark Publications for gene: GBA were set to
Cholestasis v0.69 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.68 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32324335; Phenotypes: Gaucher disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.68 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.67 GALT Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosemia, MIM# 230400
Cholestasis v0.66 GALT Zornitza Stark Publications for gene: GALT were set to
Cholestasis v0.66 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.65 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30693370; Phenotypes: Galactosemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.65 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Cholestasis v0.65 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.65 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM# 270400
Cholestasis v0.64 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Cholestasis v0.63 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.62 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
Cholestasis v0.62 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.61 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: 20052364; Phenotypes: Smith-Lemli-Opitz syndrome, MIM# 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.61 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Cholestasis v0.61 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Cholestasis v0.61 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Cholestasis v0.60 DGUOK Zornitza Stark Mode of inheritance for gene: DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.59 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.59 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Cholestasis v0.59 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Cholestasis v0.59 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from to Bile acid synthesis defect, congenital, 3, MIM# 613812
Cholestasis v0.58 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Cholestasis v0.57 CYP7B1 Zornitza Stark Mode of inheritance for gene: CYP7B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.56 CYP7B1 Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337596, 30366773, 9802883; Phenotypes: Bile acid synthesis defect, congenital, 3, MIM# 613812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.56 COG7 Zornitza Stark Marked gene: COG7 as ready
Cholestasis v0.56 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Cholestasis v0.56 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Cholestasis v0.55 COG7 Zornitza Stark Publications for gene: COG7 were set to
Cholestasis v0.54 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.53 COG7 Zornitza Stark reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19577670, 17395513, 15107842; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.53 CFTR Zornitza Stark Marked gene: CFTR as ready
Cholestasis v0.53 CFTR Zornitza Stark Gene: cftr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.53 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700
Cholestasis v0.52 CFTR Zornitza Stark Publications for gene: CFTR were set to
Cholestasis v0.51 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.50 CFTR Zornitza Stark Classified gene: CFTR as Amber List (moderate evidence)
Cholestasis v0.50 CFTR Zornitza Stark Gene: cftr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.49 CFTR Zornitza Stark reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25097709; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.49 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Cholestasis v0.49 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Cholestasis v0.49 BCS1L Zornitza Stark Classified gene: BCS1L as Green List (high evidence)
Cholestasis v0.49 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Cholestasis v0.48 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 12215968
Phenotypes for gene: BCS1L were set to GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#124000
Review for gene: BCS1L was set to GREEN
Added comment: Founder Finnish variant: p.Ser78Gly is linked to this particular phenotype. Other variants in this gene tend to cause a mitochondrial disorder where cholestasis is also a feature.
Sources: Expert list
Cholestasis v0.47 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Cholestasis v0.47 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Cholestasis v0.47 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Cholestasis v0.46 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.45 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.45 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Cholestasis v0.45 ARG1 Zornitza Stark Gene: arg1 has been classified as Red List (Low Evidence).
Cholestasis v0.45 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininemia, MIM# 207800
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.43 ARG1 Zornitza Stark Classified gene: ARG1 as Red List (low evidence)
Cholestasis v0.43 ARG1 Zornitza Stark Gene: arg1 has been classified as Red List (Low Evidence).
Cholestasis v0.42 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininemia, MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.42 ADK Zornitza Stark Marked gene: ADK as ready
Cholestasis v0.42 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Cholestasis v0.42 ADK Zornitza Stark Phenotypes for gene: ADK were changed from to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Cholestasis v0.41 ADK Zornitza Stark Publications for gene: ADK were set to
Cholestasis v0.40 ADK Zornitza Stark Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.39 ADK Zornitza Stark Classified gene: ADK as Red List (low evidence)
Cholestasis v0.39 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Cholestasis v0.38 ADK Zornitza Stark reviewed gene: ADK: Rating: RED; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.38 ABCG8 Zornitza Stark Marked gene: ABCG8 as ready
Cholestasis v0.38 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Red List (Low Evidence).
Cholestasis v0.38 ABCG8 Zornitza Stark Phenotypes for gene: ABCG8 were changed from to Sitosterolemia 1, MIM# 210250
Cholestasis v0.37 ABCG8 Zornitza Stark Publications for gene: ABCG8 were set to
Cholestasis v0.36 ABCG8 Zornitza Stark Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.35 ABCG8 Zornitza Stark Classified gene: ABCG8 as Red List (low evidence)
Cholestasis v0.35 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Red List (Low Evidence).
Cholestasis v0.34 ABCG8 Zornitza Stark reviewed gene: ABCG8: Rating: RED; Mode of pathogenicity: None; Publications: 18441155; Phenotypes: Sitosterolemia 1, MIM# 210250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.34 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Cholestasis v0.34 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Cholestasis v0.34 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from to Sitosterolemia 2, MIM# 618666
Cholestasis v0.33 ABCG5 Zornitza Stark Publications for gene: ABCG5 were set to
Cholestasis v0.32 ABCG5 Zornitza Stark Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.31 ABCG5 Zornitza Stark Classified gene: ABCG5 as Red List (low evidence)
Cholestasis v0.31 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Cholestasis v0.30 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: 18441155; Phenotypes: Sitosterolemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.30 LARS Zornitza Stark Marked gene: LARS as ready
Cholestasis v0.30 LARS Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is LARS1
Cholestasis v0.30 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Cholestasis v0.30 LARS Zornitza Stark Tag new gene name tag was added to gene: LARS.
Cholestasis v0.30 TFR2 Zornitza Stark Marked gene: TFR2 as ready
Cholestasis v0.30 TFR2 Zornitza Stark Gene: tfr2 has been classified as Green List (High Evidence).
Cholestasis v0.30 TFR2 Zornitza Stark Phenotypes for gene: TFR2 were changed from to Haemochromatosis, type 3 (MIM#604250)
Cholestasis v0.29 TFR2 Zornitza Stark Publications for gene: TFR2 were set to
Cholestasis v0.28 TFR2 Zornitza Stark Mode of inheritance for gene: TFR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.27 TFR2 Zornitza Stark reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24847265, 29743178; Phenotypes: Haemochromatosis, type 3 (MIM#604250); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.27 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Cholestasis v0.27 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Cholestasis v0.27 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Cholestasis v0.26 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Cholestasis v0.25 VPS33B Zornitza Stark Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.24 VPS33B Zornitza Stark reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.24 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Cholestasis v0.24 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Cholestasis v0.24 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Cholestasis v0.23 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Cholestasis v0.22 VIPAS39 Zornitza Stark Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.21 VIPAS39 Chern Lim changed review comment from: PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC.; to: PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants or start-loss variant. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC.
Cholestasis v0.21 VIPAS39 Chern Lim reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cholestasis v0.21 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Cholestasis v0.21 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Green List (High Evidence).
Cholestasis v0.21 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from to Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR; Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR
Cholestasis v0.20 ABCB11 Zornitza Stark Publications for gene: ABCB11 were set to 23141890
Cholestasis v0.20 ABCB11 Zornitza Stark Publications for gene: ABCB11 were set to
Cholestasis v0.19 ABCB11 Zornitza Stark Mode of inheritance for gene: ABCB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.18 ABCB11 Michelle Torres reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141890; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2 605479 AR, Cholestasis, progressive familial intrahepatic 2 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cholestasis v0.18 PPM1F Zornitza Stark edited their review of gene: PPM1F: Changed phenotypes: sclerosing cholangitis, short stature, hypothyroidism, abnormal tongue pigmentation
Cholestasis v0.18 GALM Zornitza Stark Marked gene: GALM as ready
Cholestasis v0.18 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cholestasis v0.18 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Cholestasis v0.18 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cholestasis v0.17 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). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)

Note only two individuals were reported as having transient cholestasis.
Sources: Literature
Cholestasis v0.16 WDR83OS Zornitza Stark Marked gene: WDR83OS as ready
Cholestasis v0.16 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Cholestasis v0.16 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: - 1 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 v0.15 LSR Zornitza Stark Marked gene: LSR as ready
Cholestasis v0.15 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.15 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Cholestasis v0.15 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.14 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 v0.13 USP53 Zornitza Stark Marked gene: USP53 as ready
Cholestasis v0.13 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Cholestasis v0.13 USP53 Zornitza Stark Classified gene: USP53 as Green List (high evidence)
Cholestasis v0.13 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Cholestasis v0.12 USP53 Zornitza Stark gene: USP53 was added
gene: USP53 was added to Cholestasis. Sources: Literature
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to 30250217; 32124521
Phenotypes for gene: USP53 were set to Cholestasis; deafness
Review for gene: USP53 was set to GREEN
Added comment: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature
Cholestasis v0.11 PPM1F Zornitza Stark Marked gene: PPM1F as ready
Cholestasis v0.11 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Cholestasis v0.11 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
Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentatio
Review for gene: PPM1F was set to RED
Added comment: One consanguineous family reported.
Sources: Literature
Cholestasis v0.10 KIF12 Zornitza Stark Marked gene: KIF12 as ready
Cholestasis v0.10 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Cholestasis v0.10 KIF12 Zornitza Stark Classified gene: KIF12 as Green List (high evidence)
Cholestasis v0.10 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Cholestasis v0.9 KIF12 Zornitza Stark gene: KIF12 was added
gene: KIF12 was added to Cholestasis. Sources: Expert list
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
Added comment: Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense.
Sources: Expert list
Cholestasis v0.8 LARS Zornitza Stark Marked gene: LARS as ready
Cholestasis v0.8 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Cholestasis v0.8 LARS Zornitza Stark Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1, 615438 to Infantile liver failure syndrome 1, MIM# 615438
Cholestasis v0.7 LARS Zornitza Stark Classified gene: LARS as Green List (high evidence)
Cholestasis v0.7 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Cholestasis v0.6 LARS Zornitza Stark reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30349989; Phenotypes: Infantile liver failure syndrome 1, MIM# 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.6 LARS Anna Le Fevre reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774368, 30349989, 22607940; Phenotypes: ?Infantile liver failure syndrome 1, 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.6 LARS Anna Le Fevre Deleted their review
Cholestasis v0.6 LARS Anna Le Fevre Deleted their comment
Cholestasis v0.6 LARS Anna Le Fevre Deleted their comment
Cholestasis v0.6 LARS Anna Le Fevre commented on gene: LARS: Multiple families with variable ethnicity have been reported with this phenotype.
Cholestasis v0.6 LARS Anna Le Fevre gene: LARS was added
gene: LARS was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 28774368; 30349989; 22607940
Phenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1, 615438
Review for gene: LARS was set to GREEN
Added comment: Sources: NHS GMS
Cholestasis v0.6 IARS Zornitza Stark Marked gene: IARS as ready
Cholestasis v0.6 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Cholestasis v0.6 IARS Zornitza Stark Phenotypes for gene: IARS were changed from to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Cholestasis v0.5 IARS Zornitza Stark Publications for gene: IARS were set to
Cholestasis v0.4 IARS Zornitza Stark Mode of inheritance for gene: IARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.3 IARS Elena Savva reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cholestasis v0.2 Zornitza Stark Panel name changed from Cholestasis_VCGS to Cholestasis
Panel types changed to Victorian Clinical Genetics Services
Cholestasis v0.1 SLC27A5 Zornitza Stark Marked gene: SLC27A5 as ready
Cholestasis v0.1 SLC27A5 Zornitza Stark Gene: slc27a5 has been classified as Red List (Low Evidence).
Cholestasis v0.1 SLC27A5 Zornitza Stark Classified gene: SLC27A5 as Red List (low evidence)
Cholestasis v0.1 SLC27A5 Zornitza Stark Gene: slc27a5 has been classified as Red List (Low Evidence).
Cholestasis v0.0 SLC27A5 Zornitza Stark reviewed gene: SLC27A5: Rating: RED; Mode of pathogenicity: None; Publications: 22089923; Phenotypes: ; Mode of inheritance: None
Cholestasis v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS33B was set to Unknown
Cholestasis v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VIPAS39 was set to Unknown
Cholestasis v0.0 UNC45A Zornitza Stark gene: UNC45A was added
gene: UNC45A was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC45A was set to Unknown
Cholestasis v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UGT1A1 was set to Unknown
Cholestasis v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRMU was set to Unknown
Cholestasis v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM216 was set to Unknown
Cholestasis v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TJP2 was set to Unknown
Cholestasis v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFR2 was set to Unknown
Cholestasis v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TALDO1 was set to Unknown
Cholestasis v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMPD1 was set to Unknown
Cholestasis v0.0 SLC40A1 Zornitza Stark gene: SLC40A1 was added
gene: SLC40A1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC40A1 was set to Unknown
Cholestasis v0.0 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC30A10 was set to Unknown
Cholestasis v0.0 SLC27A5 Zornitza Stark gene: SLC27A5 was added
gene: SLC27A5 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC27A5 was set to Unknown
Cholestasis v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A13 was set to Unknown
Cholestasis v0.0 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINA1 was set to Unknown
Cholestasis v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG was set to Unknown
Cholestasis v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PKHD1 was set to Unknown
Cholestasis v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX7 was set to Unknown
Cholestasis v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX6 was set to Unknown
Cholestasis v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX5 was set to Unknown
Cholestasis v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX3 was set to Unknown
Cholestasis v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX26 was set to Unknown
Cholestasis v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX2 was set to Unknown
Cholestasis v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX19 was set to Unknown
Cholestasis v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX16 was set to Unknown
Cholestasis v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX14 was set to Unknown
Cholestasis v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX13 was set to Unknown
Cholestasis v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX12 was set to Unknown
Cholestasis v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX11B was set to Unknown
Cholestasis v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX10 was set to Unknown
Cholestasis v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX1 was set to Unknown
Cholestasis v0.0 NR1H4 Zornitza Stark gene: NR1H4 was added
gene: NR1H4 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR1H4 was set to Unknown
Cholestasis v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP4 was set to Unknown
Cholestasis v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP3 was set to Unknown
Cholestasis v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP1 was set to Unknown
Cholestasis v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPC2 was set to Unknown
Cholestasis v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPC1 was set to Unknown
Cholestasis v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOTCH2 was set to Unknown
Cholestasis v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MVK was set to Unknown
Cholestasis v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPV17 was set to Unknown
Cholestasis v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPI was set to Unknown
Cholestasis v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MKS1 was set to Unknown
Cholestasis v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPA was set to Unknown
Cholestasis v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: JAG1 was set to Unknown
Cholestasis v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INVS was set to Unknown
Cholestasis v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IARS was set to Unknown
Cholestasis v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD3B7 was set to Unknown
Cholestasis v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNF1B was set to Unknown
Cholestasis v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HFE2 was set to Unknown
Cholestasis v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HFE was set to Unknown
Cholestasis v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HAMP was set to Unknown
Cholestasis v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HADHA was set to Unknown
Cholestasis v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to Unknown
Cholestasis v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA was set to Unknown
Cholestasis v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALT was set to Unknown
Cholestasis v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAH was set to Unknown
Cholestasis v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR7 was set to Unknown
Cholestasis v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DGUOK was set to Unknown
Cholestasis v0.0 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCDC2 was set to Unknown
Cholestasis v0.0 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP7B1 was set to Unknown
Cholestasis v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP27A1 was set to Unknown
Cholestasis v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COG7 was set to Unknown
Cholestasis v0.0 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLDN1 was set to Unknown
Cholestasis v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFTR was set to Unknown
Cholestasis v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CC2D2A was set to Unknown
Cholestasis v0.0 BAAT Zornitza Stark gene: BAAT was added
gene: BAAT was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BAAT was set to Unknown
Cholestasis v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP8B1 was set to Unknown
Cholestasis v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP7B was set to Unknown
Cholestasis v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARG1 was set to Unknown
Cholestasis v0.0 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMACR was set to Unknown
Cholestasis v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDOB was set to Unknown
Cholestasis v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AKR1D1 was set to Unknown
Cholestasis v0.0 ADK Zornitza Stark gene: ADK was added
gene: ADK was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADK was set to Unknown
Cholestasis v0.0 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCG8 was set to Unknown
Cholestasis v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCG5 was set to Unknown
Cholestasis v0.0 ABCC2 Zornitza Stark gene: ABCC2 was added
gene: ABCC2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCC2 was set to Unknown
Cholestasis v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCB4 was set to Unknown
Cholestasis v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCB11 was set to Unknown
Cholestasis v0.0 Zornitza Stark Added panel Cholestasis_VCGS