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Neonatal cholestasis v1.4 IARS Louise Daugherty commented on gene: IARS
Neonatal cholestasis v1.4 IARS Sarah Leigh commented on gene: IARS: "New gene name" tag added, the new gene name is IARS1.
Neonatal cholestasis v1.4 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Neonatal cholestasis v1.3 Ellen McDonagh List of related panels changed from Cholestasis to
Neonatal cholestasis v1.2 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Neonatal cholestasis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Neonatal cholestasis Sarah Leigh promoted panel to version 1.0
Neonatal cholestasis ATP7B Sarah Leigh marked gene: ATP7B as ready
Neonatal cholestasis ATP7B Sarah Leigh classified ATP7B as Green List (high evidence)
Neonatal cholestasis TALDO1 Anna de Burca classified TALDO1 as Green List (high evidence)
Neonatal cholestasis TALDO1 Anna de Burca classified TALDO1 as Green List (high evidence)
Neonatal cholestasis ATP7B Sarah Leigh edited their review of gene: ATP7B
Neonatal cholestasis PEX7 Sarah Leigh commented on gene: PEX7
Neonatal cholestasis HFE Sarah Leigh commented on gene: HFE
Neonatal cholestasis ABCD3 Sarah Leigh marked gene: ABCD3 as ready
Neonatal cholestasis ABCD3 Sarah Leigh Added gene to panel
Neonatal cholestasis SLC40A1 Sarah Leigh marked gene: SLC40A1 as ready
Neonatal cholestasis SLC30A10 Sarah Leigh marked gene: SLC30A10 as ready
Neonatal cholestasis SLC27A5 Sarah Leigh marked gene: SLC27A5 as ready
Neonatal cholestasis SLC10A2 Sarah Leigh marked gene: SLC10A2 as ready
Neonatal cholestasis SMPD1 Sarah Leigh marked gene: SMPD1 as ready
Neonatal cholestasis SMPD1 Sarah Leigh classified SMPD1 as Green List (high evidence)
Neonatal cholestasis TMEM216 Sarah Leigh marked gene: TMEM216 as ready
Neonatal cholestasis TFR2 Sarah Leigh marked gene: TFR2 as ready
Neonatal cholestasis UTP4 Sarah Leigh marked gene: UTP4 as ready
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Neonatal cholestasis TFR2 Eleanor Williams classified TFR2 as Amber List (moderate evidence)
Neonatal cholestasis TFR2 Eleanor Williams commented on gene: TFR2
Neonatal cholestasis SLC10A1 Sarah Leigh marked gene: SLC10A1 as ready
Neonatal cholestasis TMEM216 Eleanor Williams classified TMEM216 as Amber List (moderate evidence)
Neonatal cholestasis SCP2 Sarah Leigh marked gene: SCP2 as ready
Neonatal cholestasis NPHP4 Sarah Leigh marked gene: NPHP4 as ready
Neonatal cholestasis MVK Sarah Leigh marked gene: MVK as ready
Neonatal cholestasis MVK Sarah Leigh classified MVK as Green List (high evidence)
Neonatal cholestasis MPI Sarah Leigh marked gene: MPI as ready
Neonatal cholestasis MPI Sarah Leigh classified MPI as Green List (high evidence)
Neonatal cholestasis TMEM216 Eleanor Williams commented on gene: TMEM216
Neonatal cholestasis TMEM216 Eleanor Williams commented on gene: TMEM216
Neonatal cholestasis INVS Sarah Leigh marked gene: INVS as ready
Neonatal cholestasis INVS Sarah Leigh classified INVS as Green List (high evidence)
Neonatal cholestasis UTP4 Eleanor Williams commented on gene: UTP4
Neonatal cholestasis IARS Sarah Leigh marked gene: IARS as ready
Neonatal cholestasis IARS Sarah Leigh classified IARS as Amber List (moderate evidence)
Neonatal cholestasis HFE2 Sarah Leigh marked gene: HFE2 as ready
Neonatal cholestasis HFE2 Sarah Leigh classified HFE2 as Amber List (moderate evidence)
Neonatal cholestasis HFE2 Sarah Leigh commented on gene: HFE2
Neonatal cholestasis HFE Sarah Leigh classified HFE as Amber List (moderate evidence)
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Amber List (moderate evidence)
Neonatal cholestasis HFE Sarah Leigh marked gene: HFE as ready
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Red List (low evidence)
Neonatal cholestasis HAMP Sarah Leigh marked gene: HAMP as ready
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Amber List (moderate evidence)
Neonatal cholestasis HADHA Sarah Leigh marked gene: HADHA as ready
Neonatal cholestasis HADHA Sarah Leigh classified HADHA as Green List (high evidence)
Neonatal cholestasis GPBAR1 Sarah Leigh marked gene: GPBAR1 as ready
Neonatal cholestasis GBE1 Sarah Leigh marked gene: GBE1 as ready
Neonatal cholestasis GBE1 Sarah Leigh classified GBE1 as Green List (high evidence)
Neonatal cholestasis GBA Sarah Leigh marked gene: GBA as ready
Neonatal cholestasis GBA Sarah Leigh classified GBA as Green List (high evidence)
Neonatal cholestasis GALT Sarah Leigh marked gene: GALT as ready
Neonatal cholestasis GALT Sarah Leigh classified GALT as Green List (high evidence)
Neonatal cholestasis EPHX1 Sarah Leigh marked gene: EPHX1 as ready
Neonatal cholestasis EHHADH Sarah Leigh marked gene: EHHADH as ready
Neonatal cholestasis DHCR7 Sarah Leigh marked gene: DHCR7 as ready
Neonatal cholestasis CYP7A1 Sarah Leigh marked gene: CYP7A1 as ready
Neonatal cholestasis ATP7B Sarah Leigh classified ATP7B as Red List (low evidence)
Neonatal cholestasis POLG Sarah Leigh marked gene: POLG as ready
Neonatal cholestasis POLG Sarah Leigh classified POLG as Green List (high evidence)
Neonatal cholestasis COG7 Sarah Leigh marked gene: COG7 as ready
Neonatal cholestasis COG7 Sarah Leigh classified COG7 as Green List (high evidence)
Neonatal cholestasis CC2D2A Sarah Leigh classified CC2D2A as Green List (high evidence)
Neonatal cholestasis CC2D2A Sarah Leigh marked gene: CC2D2A as ready
Neonatal cholestasis ARG1 Sarah Leigh marked gene: ARG1 as ready
Neonatal cholestasis PEX7 Sarah Leigh marked gene: PEX7 as ready
Neonatal cholestasis PEX6 Sarah Leigh classified PEX6 as Green List (high evidence)
Neonatal cholestasis PEX5 Sarah Leigh marked gene: PEX5 as ready
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Red List (low evidence)
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Neonatal cholestasis PEX3 Sarah Leigh marked gene: PEX3 as ready
Neonatal cholestasis PEX3 Sarah Leigh classified PEX3 as Green List (high evidence)
Neonatal cholestasis PEX26 Sarah Leigh marked gene: PEX26 as ready
Neonatal cholestasis PEX26 Sarah Leigh classified PEX26 as Green List (high evidence)
Neonatal cholestasis PEX19 Sarah Leigh marked gene: PEX19 as ready
Neonatal cholestasis PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Neonatal cholestasis PEX16 Sarah Leigh marked gene: PEX16 as ready
Neonatal cholestasis PEX16 Sarah Leigh classified PEX16 as Green List (high evidence)
Neonatal cholestasis PEX13 Ellen McDonagh classified PEX13 as Green List (high evidence)
Neonatal cholestasis PEX10 Ellen McDonagh classified PEX10 as Green List (high evidence)
Neonatal cholestasis PEX12 Sarah Leigh classified PEX12 as Green List (high evidence)
Neonatal cholestasis POLG Helen Brittain reviewed gene: POLG
Neonatal cholestasis PKHD1 Helen Brittain marked gene: PKHD1 as ready
Neonatal cholestasis MYO5B Helen Brittain marked gene: MYO5B as ready
Neonatal cholestasis MYO5B Helen Brittain classified MYO5B as Red List (low evidence)
Neonatal cholestasis MYO5B Helen Brittain reviewed gene: MYO5B
Neonatal cholestasis BCS1L Helen Brittain marked gene: BCS1L as ready
Neonatal cholestasis TALDO1 Louise Daugherty commented on gene: TALDO1
Neonatal cholestasis GNAS Anna de Burca marked gene: GNAS as ready
Neonatal cholestasis GNAS Anna de Burca classified GNAS as Amber List (moderate evidence)
Neonatal cholestasis BCS1L Anna de Burca classified BCS1L as Amber List (moderate evidence)
Neonatal cholestasis ADK Anna de Burca marked gene: ADK as ready
Neonatal cholestasis ADK Anna de Burca classified ADK as Green List (high evidence)
Neonatal cholestasis CYP7A1 Louise Daugherty reviewed gene: CYP7A1
Neonatal cholestasis AMACR Louise Daugherty commented on gene: AMACR
Neonatal cholestasis SLC27A5 Louise Daugherty reviewed gene: SLC27A5
Neonatal cholestasis TALDO1 Louise Daugherty edited their review of gene: TALDO1
Neonatal cholestasis TALDO1 Louise Daugherty commented on gene: TALDO1
Neonatal cholestasis CYP7B1 Louise Daugherty commented on gene: CYP7B1
Neonatal cholestasis GNAS Louise Daugherty classified GNAS as Amber List (moderate evidence)
Neonatal cholestasis GNAS Louise Daugherty Added gene to panel
Neonatal cholestasis MYO5B Louise Daugherty classified MYO5B as Amber List (moderate evidence)
Neonatal cholestasis MYO5B Louise Daugherty Added gene to panel
Neonatal cholestasis BCS1L Louise Daugherty classified BCS1L as Amber List (moderate evidence)
Neonatal cholestasis BCS1L Louise Daugherty Added gene to panel
Neonatal cholestasis PEX14 Sarah Leigh marked gene: PEX14 as ready
Neonatal cholestasis PEX14 Sarah Leigh classified PEX14 as Green List (high evidence)
Neonatal cholestasis AMACR Eleanor Williams marked gene: AMACR as ready
Neonatal cholestasis AMACR Eleanor Williams classified AMACR as Amber List (moderate evidence)
Neonatal cholestasis AMACR Eleanor Williams commented on gene: AMACR
Neonatal cholestasis ADK Ellen McDonagh classified ADK as Amber List (moderate evidence)
Neonatal cholestasis PEX13 Sarah Leigh marked gene: PEX13 as ready
Neonatal cholestasis PEX13 Sarah Leigh commented on gene: PEX13
Neonatal cholestasis PEX12 Sarah Leigh classified PEX12 as Amber List (moderate evidence)
Neonatal cholestasis TRMU Anna de Burca marked gene: TRMU as ready
Neonatal cholestasis TRMU Anna de Burca classified TRMU as Green List (high evidence)
Neonatal cholestasis ABCG8 Ellen McDonagh marked gene: ABCG8 as ready
Neonatal cholestasis ABCG5 Ellen McDonagh marked gene: ABCG5 as ready
Neonatal cholestasis ABCG5 Ellen McDonagh classified ABCG5 as Red List (low evidence)
Neonatal cholestasis UGT1A1 Eleanor Williams marked gene: UGT1A1 as ready
Neonatal cholestasis ABCG8 Ellen McDonagh classified ABCG8 as Red List (low evidence)
Neonatal cholestasis UGT1A1 Eleanor Williams classified UGT1A1 as Green List (high evidence)
Neonatal cholestasis ABCG8 Ellen McDonagh classified ABCG8 as Amber List (moderate evidence)
Neonatal cholestasis PEX1 Louise Daugherty marked gene: PEX1 as ready
Neonatal cholestasis AKR1D1 Louise Daugherty marked gene: AKR1D1 as ready
Neonatal cholestasis UGT1A1 Eleanor Williams commented on gene: UGT1A1
Neonatal cholestasis ABCG5 Ellen McDonagh classified ABCG5 as Amber List (moderate evidence)
Neonatal cholestasis VIPAS39 Louise Daugherty marked gene: VIPAS39 as ready
Neonatal cholestasis PEX11B Sarah Leigh marked gene: PEX11B as ready
Neonatal cholestasis PEX11B Sarah Leigh commented on gene: PEX11B
Neonatal cholestasis TJP2 Louise Daugherty marked gene: TJP2 as ready
Neonatal cholestasis MKS1 Anna de Burca marked gene: MKS1 as ready
Neonatal cholestasis NR1H4 Louise Daugherty marked gene: NR1H4 as ready
Neonatal cholestasis ABCG5 Ellen McDonagh classified ABCG5 as Amber List (moderate evidence)
Neonatal cholestasis MKS1 Anna de Burca classified MKS1 as Amber List (moderate evidence)
Neonatal cholestasis VPS33B Louise Daugherty marked gene: VPS33B as ready
Neonatal cholestasis ATP8B1 Louise Daugherty marked gene: ATP8B1 as ready
Neonatal cholestasis NPHP3 Anna de Burca marked gene: NPHP3 as ready
Neonatal cholestasis ABCB4 Louise Daugherty marked gene: ABCB4 as ready
Neonatal cholestasis ABCB11 Louise Daugherty marked gene: ABCB11 as ready
Neonatal cholestasis PEX10 Sarah Leigh marked gene: PEX10 as ready
Neonatal cholestasis PEX10 Sarah Leigh classified PEX10 as Amber List (moderate evidence)
Neonatal cholestasis NPHP3 Anna de Burca classified NPHP3 as Amber List (moderate evidence)
Neonatal cholestasis TRMU Ellen McDonagh classified TRMU as Amber List (moderate evidence)
Neonatal cholestasis FAH Louise Daugherty marked gene: FAH as ready
Neonatal cholestasis LIPA Eleanor Williams marked gene: LIPA as ready
Neonatal cholestasis FAH Louise Daugherty classified FAH as Green List (high evidence)
Neonatal cholestasis FAH Louise Daugherty commented on gene: FAH
Neonatal cholestasis LIPA Eleanor Williams classified LIPA as Green List (high evidence)
Neonatal cholestasis CFTR Louise Daugherty commented on gene: CFTR
Neonatal cholestasis SERPINA1 Sarah Leigh marked gene: SERPINA1 as ready
Neonatal cholestasis LIPA Eleanor Williams commented on gene: LIPA
Neonatal cholestasis POLG Ellen McDonagh classified POLG as Amber List (moderate evidence)
Neonatal cholestasis NPHP1 Anna de Burca marked gene: NPHP1 as ready
Neonatal cholestasis NPHP1 Anna de Burca classified NPHP1 as Red List (low evidence)
Neonatal cholestasis PKHD1 Ellen McDonagh classified PKHD1 as Amber List (moderate evidence)
Neonatal cholestasis MPV17 Ellen McDonagh marked gene: MPV17 as ready
Neonatal cholestasis MPV17 Ellen McDonagh classified MPV17 as Green List (high evidence)
Neonatal cholestasis MKS1 Sarah Leigh classified MKS1 as Amber List (moderate evidence)
Neonatal cholestasis CFTR Louise Daugherty marked gene: CFTR as ready
Neonatal cholestasis BAAT Louise Daugherty marked gene: BAAT as ready
Neonatal cholestasis NOTCH2 Anna de Burca marked gene: NOTCH2 as ready
Neonatal cholestasis NOTCH2 Anna de Burca classified NOTCH2 as Green List (high evidence)
Neonatal cholestasis SERPINA1 Sarah Leigh classified SERPINA1 as Red List (low evidence)
Neonatal cholestasis SERPINA1 Sarah Leigh commented on gene: SERPINA1
Neonatal cholestasis DCDC2 Ellen McDonagh marked gene: DCDC2 as ready
Neonatal cholestasis DCDC2 Ellen McDonagh classified DCDC2 as Green List (high evidence)
Neonatal cholestasis JAG1 Anna de Burca marked gene: JAG1 as ready
Neonatal cholestasis JAG1 Anna de Burca classified JAG1 as Green List (high evidence)
Neonatal cholestasis HSD17B4 Ellen McDonagh marked gene: HSD17B4 as ready
Neonatal cholestasis HSD17B4 Ellen McDonagh classified HSD17B4 as Red List (low evidence)
Neonatal cholestasis SLC25A13 Eleanor Williams marked gene: SLC25A13 as ready
Neonatal cholestasis CFTR Louise Daugherty classified CFTR as Green List (high evidence)
Neonatal cholestasis SLC25A13 Eleanor Williams classified SLC25A13 as Green List (high evidence)
Neonatal cholestasis DGUOK Ellen McDonagh marked gene: DGUOK as ready
Neonatal cholestasis DGUOK Ellen McDonagh classified DGUOK as Green List (high evidence)
Neonatal cholestasis HNF1B Anna de Burca marked gene: HNF1B as ready
Neonatal cholestasis HSD17B4 Rebecca Foulger commented on gene: HSD17B4
Neonatal cholestasis HNF1B Anna de Burca classified HNF1B as Green List (high evidence)
Neonatal cholestasis SLC25A13 Eleanor Williams commented on gene: SLC25A13
Neonatal cholestasis ABCC2 Ellen McDonagh marked gene: ABCC2 as ready
Neonatal cholestasis ABCC2 Ellen McDonagh classified ABCC2 as Green List (high evidence)
Neonatal cholestasis CLDN1 Rebecca Foulger marked gene: CLDN1 as ready
Neonatal cholestasis CLDN1 Rebecca Foulger classified CLDN1 as Green List (high evidence)
Neonatal cholestasis CLDN1 Rebecca Foulger commented on gene: CLDN1
Neonatal cholestasis ABCC2 Ellen McDonagh classified ABCC2 as Red List (low evidence)
Neonatal cholestasis BAAT Louise Daugherty classified BAAT as Green List (high evidence)
Neonatal cholestasis CYP27A1 Ellen McDonagh marked gene: CYP27A1 as ready
Neonatal cholestasis CYP27A1 Ellen McDonagh classified CYP27A1 as Green List (high evidence)
Neonatal cholestasis NPC2 Eleanor Williams marked gene: NPC2 as ready
Neonatal cholestasis NPC2 Eleanor Williams classified NPC2 as Green List (high evidence)
Neonatal cholestasis NPC2 Eleanor Williams commented on gene: NPC2
Neonatal cholestasis PEX2 Sarah Leigh marked gene: PEX2 as ready
Neonatal cholestasis PEX2 Sarah Leigh classified PEX2 as Green List (high evidence)
Neonatal cholestasis NPC1 Eleanor Williams marked gene: NPC1 as ready
Neonatal cholestasis CYP27A1 Ellen McDonagh classified CYP27A1 as Amber List (moderate evidence)
Neonatal cholestasis NPC1 Eleanor Williams classified NPC1 as Green List (high evidence)
Neonatal cholestasis NPC1 Eleanor Williams commented on gene: NPC1
Neonatal cholestasis CYP7B1 Ellen McDonagh marked gene: CYP7B1 as ready
Neonatal cholestasis CYP7B1 Ellen McDonagh classified CYP7B1 as Amber List (moderate evidence)
Neonatal cholestasis PEX1 Sarah Leigh marked gene: PEX1 as ready
Neonatal cholestasis PEX1 Sarah Leigh classified PEX1 as Green List (high evidence)
Neonatal cholestasis BAAT Louise Daugherty commented on gene: BAAT
Neonatal cholestasis HSD3B7 Sarah Leigh marked gene: HSD3B7 as ready
Neonatal cholestasis HSD3B7 Sarah Leigh classified HSD3B7 as Green List (high evidence)
Neonatal cholestasis ALDOB Ellen McDonagh marked gene: ALDOB as ready
Neonatal cholestasis ALDOB Ellen McDonagh classified ALDOB as Green List (high evidence)
Neonatal cholestasis AKR1D1 Ellen McDonagh marked gene: AKR1D1 as ready
Neonatal cholestasis AKR1D1 Ellen McDonagh classified AKR1D1 as Green List (high evidence)
Neonatal cholestasis TFR2 Ellen McDonagh Added gene to panel
Neonatal cholestasis TALDO1 Ellen McDonagh Added gene to panel
Neonatal cholestasis SLC40A1 Ellen McDonagh Added gene to panel
Neonatal cholestasis SLC30A10 Ellen McDonagh Added gene to panel
Neonatal cholestasis MVK Ellen McDonagh Added gene to panel
Neonatal cholestasis MPI Ellen McDonagh Added gene to panel
Neonatal cholestasis IARS Ellen McDonagh Added gene to panel
Neonatal cholestasis HFE2 Ellen McDonagh Added gene to panel
Neonatal cholestasis HFE Ellen McDonagh Added gene to panel
Neonatal cholestasis HAMP Ellen McDonagh Added gene to panel
Neonatal cholestasis HADHA Ellen McDonagh Added gene to panel
Neonatal cholestasis GBE1 Ellen McDonagh Added gene to panel
Neonatal cholestasis GBA Ellen McDonagh Added gene to panel
Neonatal cholestasis GALT Ellen McDonagh Added gene to panel
Neonatal cholestasis COG7 Ellen McDonagh Added gene to panel
Neonatal cholestasis ATP7B Ellen McDonagh Added gene to panel
Neonatal cholestasis ARG1 Ellen McDonagh Added gene to panel
Neonatal cholestasis ADK Ellen McDonagh Added gene to panel
Neonatal cholestasis HSD17B4 Jane Hartley reviewed gene: HSD17B4
Neonatal cholestasis INVS Jane Hartley reviewed gene: INVS
Neonatal cholestasis LIPA Jane Hartley reviewed gene: LIPA
Neonatal cholestasis MKS1 Jane Hartley reviewed gene: MKS1
Neonatal cholestasis MPV17 Jane Hartley reviewed gene: MPV17
Neonatal cholestasis NPHP1 Jane Hartley reviewed gene: NPHP1
Neonatal cholestasis NPHP3 Jane Hartley reviewed gene: NPHP3
Neonatal cholestasis NPHP4 Jane Hartley reviewed gene: NPHP4
Neonatal cholestasis PEX10 Jane Hartley reviewed gene: PEX10
Neonatal cholestasis PEX12 Jane Hartley reviewed gene: PEX12
Neonatal cholestasis PEX13 Jane Hartley reviewed gene: PEX13
Neonatal cholestasis PEX14 Jane Hartley reviewed gene: PEX14
Neonatal cholestasis PEX16 Jane Hartley reviewed gene: PEX16
Neonatal cholestasis PEX19 Jane Hartley reviewed gene: PEX19
Neonatal cholestasis PEX6 Jane Hartley reviewed gene: PEX6
Neonatal cholestasis PKHD1 Jane Hartley reviewed gene: PKHD1
Neonatal cholestasis POLG Jane Hartley reviewed gene: POLG
Neonatal cholestasis SCP2 Jane Hartley reviewed gene: SCP2
Neonatal cholestasis SLC10A1 Jane Hartley reviewed gene: SLC10A1
Neonatal cholestasis SLC10A2 Jane Hartley reviewed gene: SLC10A2
Neonatal cholestasis SMPD1 Jane Hartley reviewed gene: SMPD1
Neonatal cholestasis TMEM216 Jane Hartley reviewed gene: TMEM216
Neonatal cholestasis TRMU Jane Hartley reviewed gene: TRMU
Neonatal cholestasis UGT1A1 Jane Hartley reviewed gene: UGT1A1
Neonatal cholestasis FAH Jane Hartley reviewed gene: FAH
Neonatal cholestasis DHCR7 Jane Hartley reviewed gene: DHCR7
Neonatal cholestasis CYP7A1 Jane Hartley reviewed gene: CYP7A1
Neonatal cholestasis CFTR Jane Hartley reviewed gene: CFTR
Neonatal cholestasis CC2D2A Jane Hartley reviewed gene: CC2D2A
Neonatal cholestasis DGUOK Jane Hartley reviewed gene: DGUOK
Neonatal cholestasis AMACR Jane Hartley reviewed gene: AMACR
Neonatal cholestasis ABCG8 Jane Hartley reviewed gene: ABCG8
Neonatal cholestasis DCDC2 Jane Hartley reviewed gene: DCDC2
Neonatal cholestasis ABCG5 Jane Hartley reviewed gene: ABCG5
Neonatal cholestasis ABCC2 Jane Hartley reviewed gene: ABCC2
Neonatal cholestasis PEX2 Jane Hartley reviewed gene: PEX2
Neonatal cholestasis PEX1 Jane Hartley reviewed gene: PEX1
Neonatal cholestasis HSD3B7 Jane Hartley reviewed gene: HSD3B7
Neonatal cholestasis CYP7B1 Jane Hartley reviewed gene: CYP7B1
Neonatal cholestasis CYP27A1 Jane Hartley reviewed gene: CYP27A1
Neonatal cholestasis CLDN1 Jane Hartley reviewed gene: CLDN1
Neonatal cholestasis BAAT Jane Hartley reviewed gene: BAAT
Neonatal cholestasis ALDOB Jane Hartley reviewed gene: ALDOB
Neonatal cholestasis SLC25A13 Jane Hartley reviewed gene: SLC25A13
Neonatal cholestasis SERPINA1 Jane Hartley reviewed gene: SERPINA1
Neonatal cholestasis NPC2 Jane Hartley reviewed gene: NPC2
Neonatal cholestasis NPC1 Jane Hartley reviewed gene: NPC1
Neonatal cholestasis NOTCH2 Jane Hartley reviewed gene: NOTCH2
Neonatal cholestasis JAG1 Jane Hartley reviewed gene: JAG1
Neonatal cholestasis AKR1D1 Jane Hartley reviewed gene: AKR1D1
Neonatal cholestasis VIPAS39 Jane Hartley reviewed gene: VIPAS39
Neonatal cholestasis TJP2 Jane Hartley reviewed gene: TJP2
Neonatal cholestasis NR1H4 Jane Hartley reviewed gene: NR1H4
Neonatal cholestasis HNF1B Jane Hartley reviewed gene: HNF1B
Neonatal cholestasis VPS33B Jane Hartley reviewed gene: VPS33B
Neonatal cholestasis ATP8B1 Jane Hartley reviewed gene: ATP8B1
Neonatal cholestasis ABCB4 Jane Hartley reviewed gene: ABCB4
Neonatal cholestasis ABCB4 Jane Hartley reviewed gene: ABCB4
Neonatal cholestasis ABCB11 Jane Hartley reviewed gene: ABCB11
Neonatal cholestasis HNF1B Rachel Jones reviewed gene: HNF1B
Neonatal cholestasis SLC25A13 Thalia Antoniadi reviewed gene: SLC25A13
Neonatal cholestasis SERPINA1 Thalia Antoniadi reviewed gene: SERPINA1
Neonatal cholestasis NOTCH2 Thalia Antoniadi reviewed gene: NOTCH2
Neonatal cholestasis NPC2 Thalia Antoniadi edited their review of gene: NPC2
Neonatal cholestasis NPC2 Thalia Antoniadi reviewed gene: NPC2
Neonatal cholestasis NPC1 Thalia Antoniadi reviewed gene: NPC1
Neonatal cholestasis JAG1 Thalia Antoniadi reviewed gene: JAG1
Neonatal cholestasis TJP2 Thalia Antoniadi reviewed gene: TJP2
Neonatal cholestasis NR1H4 Thalia Antoniadi reviewed gene: NR1H4
Neonatal cholestasis HNF1B Thalia Antoniadi reviewed gene: HNF1B
Neonatal cholestasis VPS33B Thalia Antoniadi reviewed gene: VPS33B
Neonatal cholestasis VIPAS39 Thalia Antoniadi reviewed gene: VIPAS39
Neonatal cholestasis ATP8B1 Thalia Antoniadi commented on gene: ATP8B1
Neonatal cholestasis ATP8B1 Thalia Antoniadi reviewed gene: ATP8B1
Neonatal cholestasis ABCB4 Thalia Antoniadi reviewed gene: ABCB4
Neonatal cholestasis ABCB11 Thalia Antoniadi reviewed gene: ABCB11
Neonatal cholestasis HNF1B Ellen McDonagh classified HNF1B as Green List (high evidence)
Neonatal cholestasis EPHX1 Ellen McDonagh Added gene to panel
Neonatal cholestasis UTP4 Ellen McDonagh Added gene to panel
Neonatal cholestasis VPS33B Ellen McDonagh Added gene to panel
Neonatal cholestasis VIPAS39 Ellen McDonagh Added gene to panel
Neonatal cholestasis UGT1A1 Ellen McDonagh Added gene to panel
Neonatal cholestasis TRMU Ellen McDonagh Added gene to panel
Neonatal cholestasis TMEM216 Ellen McDonagh Added gene to panel
Neonatal cholestasis TJP2 Ellen McDonagh Added gene to panel
Neonatal cholestasis SMPD1 Ellen McDonagh Added gene to panel
Neonatal cholestasis SLC27A5 Ellen McDonagh Added gene to panel
Neonatal cholestasis SLC25A13 Ellen McDonagh Added gene to panel
Neonatal cholestasis SLC10A2 Ellen McDonagh Added gene to panel
Neonatal cholestasis SLC10A1 Ellen McDonagh Added gene to panel
Neonatal cholestasis SERPINA1 Ellen McDonagh Added gene to panel
Neonatal cholestasis SCP2 Ellen McDonagh Added gene to panel
Neonatal cholestasis POLG Ellen McDonagh Added gene to panel
Neonatal cholestasis PKHD1 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX7 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX6 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX5 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX3 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX26 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX2 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX19 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX16 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX14 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX13 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX12 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX11B Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX10 Ellen McDonagh Added gene to panel
Neonatal cholestasis PEX1 Ellen McDonagh Added gene to panel
Neonatal cholestasis NR1H4 Ellen McDonagh Added gene to panel
Neonatal cholestasis NPHP4 Ellen McDonagh Added gene to panel
Neonatal cholestasis NPHP3 Ellen McDonagh Added gene to panel
Neonatal cholestasis NPHP1 Ellen McDonagh Added gene to panel
Neonatal cholestasis NPC2 Ellen McDonagh Added gene to panel
Neonatal cholestasis NPC1 Ellen McDonagh Added gene to panel
Neonatal cholestasis NOTCH2 Ellen McDonagh Added gene to panel
Neonatal cholestasis MPV17 Ellen McDonagh Added gene to panel
Neonatal cholestasis MKS1 Ellen McDonagh Added gene to panel
Neonatal cholestasis LIPA Ellen McDonagh Added gene to panel
Neonatal cholestasis INVS Ellen McDonagh Added gene to panel
Neonatal cholestasis HSD3B7 Ellen McDonagh Added gene to panel
Neonatal cholestasis HSD17B4 Ellen McDonagh Added gene to panel
Neonatal cholestasis HNF1B Ellen McDonagh Added gene to panel
Neonatal cholestasis GPBAR1 Ellen McDonagh Added gene to panel
Neonatal cholestasis FAH Ellen McDonagh Added gene to panel
Neonatal cholestasis EHHADH Ellen McDonagh Added gene to panel
Neonatal cholestasis DHCR7 Ellen McDonagh Added gene to panel
Neonatal cholestasis DGUOK Ellen McDonagh Added gene to panel
Neonatal cholestasis DCDC2 Ellen McDonagh Added gene to panel
Neonatal cholestasis CYP7B1 Ellen McDonagh Added gene to panel
Neonatal cholestasis CYP7A1 Ellen McDonagh Added gene to panel
Neonatal cholestasis CYP27A1 Ellen McDonagh Added gene to panel
Neonatal cholestasis CLDN1 Ellen McDonagh Added gene to panel
Neonatal cholestasis CFTR Ellen McDonagh Added gene to panel
Neonatal cholestasis CC2D2A Ellen McDonagh Added gene to panel
Neonatal cholestasis BAAT Ellen McDonagh Added gene to panel
Neonatal cholestasis ATP8B1 Ellen McDonagh Added gene to panel
Neonatal cholestasis AMACR Ellen McDonagh Added gene to panel
Neonatal cholestasis ALDOB Ellen McDonagh Added gene to panel
Neonatal cholestasis AKR1D1 Ellen McDonagh Added gene to panel
Neonatal cholestasis ABCG8 Ellen McDonagh Added gene to panel
Neonatal cholestasis ABCG5 Ellen McDonagh Added gene to panel
Neonatal cholestasis ABCC2 Ellen McDonagh Added gene to panel
Neonatal cholestasis ABCB4 Ellen McDonagh Added gene to panel
Neonatal cholestasis ABCB11 Ellen McDonagh Added gene to panel
Neonatal cholestasis JAG1 Ellen Thomas Added gene to panel