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Early onset or syndromic epilepsy CAMK2G Sarah Leigh marked gene: CAMK2G as ready
Early onset or syndromic epilepsy CAMK2G Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DEAF1 Sarah Leigh marked gene: DEAF1 as ready
Early onset or syndromic epilepsy DEAF1 Sarah Leigh classified DEAF1 as Green List (high evidence)
Early onset or syndromic epilepsy DEAF1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC1A4 Zornitza Stark Added gene to panel
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Early onset or syndromic epilepsy NEDD4L Sarah Leigh marked gene: NEDD4L as ready
Early onset or syndromic epilepsy NRXN1 Sarah Leigh marked gene: NRXN1 as ready
Early onset or syndromic epilepsy NRXN1 Sarah Leigh classified NRXN1 as Green List (high evidence)
Early onset or syndromic epilepsy FLNA Sarah Leigh marked gene: FLNA as ready
Early onset or syndromic epilepsy FLNA Sarah Leigh classified FLNA as Green List (high evidence)
Early onset or syndromic epilepsy KCNA1 Sarah Leigh marked gene: KCNA1 as ready
Early onset or syndromic epilepsy KCNA1 Sarah Leigh classified KCNA1 as Green List (high evidence)
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh marked gene: EEF1A2 as ready
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh classified EEF1A2 as Green List (high evidence)
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh classified EEF1A2 as Green List (high evidence)
Neonatal cholestasis Sarah Leigh promoted panel to version 1.0
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of gene: AQP1
Neonatal cholestasis ATP7B Sarah Leigh marked gene: ATP7B as ready
Neonatal cholestasis ATP7B Sarah Leigh classified ATP7B as Green List (high evidence)
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of gene: AQP1
Pulmonary arterial hypertension ATP13A3 Louise Daugherty classified ATP13A3 as Green List (high evidence)
Pulmonary arterial hypertension ATP13A3 Louise Daugherty edited their review of gene: ATP13A3
Pulmonary arterial hypertension GDF2 Louise Daugherty edited their review of gene: GDF2
Pulmonary arterial hypertension GDF2 Louise Daugherty classified GDF2 as Green List (high evidence)
Pulmonary arterial hypertension SOX17 Louise Daugherty edited their review of gene: SOX17
Pulmonary arterial hypertension SOX17 Louise Daugherty classified SOX17 as Green List (high evidence)
Early onset or syndromic epilepsy IRF2BPL Zornitza Stark edited their review of gene: IRF2BPL
Rare multisystem ciliopathy disorders CEP120 Anna de Burca marked gene: CEP120 as ready
Rare multisystem ciliopathy disorders CEP120 Anna de Burca classified CEP120 as Green List (high evidence)
Rare multisystem ciliopathy disorders CEP120 Anna de Burca classified CEP120 as Green List (high evidence)
Intellectual disability PIGH Zornitza Stark reviewed gene: PIGH
Early onset or syndromic epilepsy PIGH Zornitza Stark reviewed gene: PIGH
Mitochondrial disorders WARS2 Zornitza Stark reviewed gene: WARS2
Mitochondrial disorders VPS13C Zornitza Stark reviewed gene: VPS13C
Mitochondrial disorders UQCRC2 Zornitza Stark reviewed gene: UQCRC2
Mitochondrial disorders UQCC2 Zornitza Stark reviewed gene: UQCC2
Mitochondrial disorders TUFM Zornitza Stark reviewed gene: TUFM
Mitochondrial disorders TRMT5 Zornitza Stark reviewed gene: TRMT5
Mitochondrial disorders TRIT1 Zornitza Stark reviewed gene: TRIT1
Mitochondrial disorders TMEM126B Zornitza Stark reviewed gene: TMEM126B
Mitochondrial disorders TIMM50 Zornitza Stark Added gene to panel
Mitochondrial disorders STAT2 Zornitza Stark reviewed gene: STAT2
Mitochondrial disorders SLC25A42 Zornitza Stark reviewed gene: SLC25A42
Mitochondrial disorders SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Mitochondrial disorders SLC25A1 Zornitza Stark reviewed gene: SLC25A1
Mitochondrial disorders SDHAF2 Zornitza Stark reviewed gene: SDHAF2
Mitochondrial disorders SAMHD1 Zornitza Stark reviewed gene: SAMHD1
Mitochondrial disorders RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1
Mitochondrial disorders QRSL1 Zornitza Stark reviewed gene: QRSL1
Mitochondrial disorders QARS Zornitza Stark reviewed gene: QARS
Mitochondrial disorders PUS1 Zornitza Stark reviewed gene: PUS1
Mitochondrial disorders PNPLA8 Zornitza Stark reviewed gene: PNPLA8
Early onset dystonia HPCA Zornitza Stark Added gene to panel
Mitochondrial disorders PNPLA4 Zornitza Stark reviewed gene: PNPLA4
Mitochondrial disorders PDK3 Zornitza Stark reviewed gene: PDK3
Mitochondrial disorders PARS2 Zornitza Stark reviewed gene: PARS2
Mitochondrial disorders NFS1 Zornitza Stark reviewed gene: NFS1
Mitochondrial disorders NDUFA9 Zornitza Stark reviewed gene: NDUFA9
Mitochondrial disorders NDUFA4 Zornitza Stark reviewed gene: NDUFA4
Mitochondrial disorders NAXE Zornitza Stark reviewed gene: NAXE
Mitochondrial disorders MTFMT Zornitza Stark reviewed gene: MTFMT
Mitochondrial disorders MRPS34 Zornitza Stark Added gene to panel
Mitochondrial disorders MRPS16 Zornitza Stark reviewed gene: MRPS16
Mitochondrial disorders MRPL44 Zornitza Stark reviewed gene: MRPL44
Mitochondrial disorders MRPL40 Zornitza Stark reviewed gene: MRPL40
Mitochondrial disorders MRPL3 Zornitza Stark reviewed gene: MRPL3
Mitochondrial disorders MRPL12 Zornitza Stark reviewed gene: MRPL12
Mitochondrial disorders MPC1 Zornitza Stark reviewed gene: MPC1
Mitochondrial disorders MICU1 Zornitza Stark reviewed gene: MICU1
Mitochondrial disorders MECR Zornitza Stark reviewed gene: MECR
Mitochondrial disorders LYRM7 Zornitza Stark reviewed gene: LYRM7
Mitochondrial disorders LIPT2 Zornitza Stark reviewed gene: LIPT2
Mitochondrial disorders LETM1 Zornitza Stark reviewed gene: LETM1
Mitochondrial disorders ISCU Zornitza Stark reviewed gene: ISCU
Mitochondrial disorders ISCA2 Zornitza Stark reviewed gene: ISCA2
Mitochondrial disorders IER3IP1 Zornitza Stark reviewed gene: IER3IP1
Mitochondrial disorders IDH3B Zornitza Stark reviewed gene: IDH3B
Mitochondrial disorders IARS2 Zornitza Stark reviewed gene: IARS2
Mitochondrial disorders HSD17B10 Zornitza Stark reviewed gene: HSD17B10
Mitochondrial disorders HARS2 Zornitza Stark reviewed gene: HARS2
Mitochondrial disorders GFM2 Zornitza Stark reviewed gene: GFM2
Intellectual disability IGF1R Louise Daugherty classified IGF1R as Green List (high evidence)
Intellectual disability NRXN2 Louise Daugherty classified NRXN2 as Amber List (moderate evidence)
Intellectual disability NRXN2 Louise Daugherty commented on gene: NRXN2
Clefting TGFBR2 Louise Daugherty classified TGFBR2 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)
Mitochondrial disorders FXN Zornitza Stark reviewed gene: FXN
Mitochondrial disorders FDXR Zornitza Stark Added gene to panel
Mitochondrial disorders FDX2 Zornitza Stark reviewed gene: FDX2
Mitochondrial disorders DHTKD1 Zornitza Stark reviewed gene: DHTKD1
Mitochondrial disorders DARS Zornitza Stark reviewed gene: DARS
Mitochondrial disorders CYCS Zornitza Stark reviewed gene: CYCS
Mitochondrial disorders CHKB Zornitza Stark reviewed gene: CHKB
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
Severe microcephaly RMI1 Sarah Leigh classified RMI1 as Amber List (moderate evidence)
Severe microcephaly RMI1 Sarah Leigh Added gene to panel
Severe microcephaly TOP3A Sarah Leigh classified TOP3A as Green List (high evidence)
Severe microcephaly TOP3A Sarah Leigh Added gene to panel
Mitochondrial disorders VPS13C Sarah Leigh Added gene to panel
Mitochondrial disorders SLC25A42 Sarah Leigh Added gene to panel
Mitochondrial disorders RTN4IP1 Sarah Leigh Added gene to panel
Mitochondrial disorders PNPLA8 Sarah Leigh Added gene to panel
Mitochondrial disorders PNPLA4 Sarah Leigh Added gene to panel
Mitochondrial disorders NAXE Sarah Leigh Added gene to panel
Mitochondrial disorders MICU1 Sarah Leigh Added gene to panel
Mitochondrial disorders MECR Sarah Leigh Added gene to panel
Mitochondrial disorders IDH3B Sarah Leigh Added gene to panel
Mitochondrial disorders HSD17B10 Sarah Leigh Added gene to panel
Mitochondrial disorders ERCC6L2 Sarah Leigh Added gene to panel
Mitochondrial disorders DTD1 Sarah Leigh Added gene to panel
Mitochondrial disorders CARS2 Zornitza Stark reviewed gene: CARS2
Mitochondrial disorders C1QBP Zornitza Stark Added gene to panel
Mitochondrial disorders C19orf12 Zornitza Stark reviewed gene: C19orf12
Mitochondrial disorders BTD Zornitza Stark reviewed gene: BTD
Mitochondrial disorders APTX Zornitza Stark reviewed gene: APTX
Mitochondrial disorders ANO10 Zornitza Stark reviewed gene: ANO10
Intellectual disability BCL11B Konstantinos Varvagiannis Added gene to panel
Haematological malignancies cancer susceptibility RAD51C Ellen McDonagh classified RAD51C as Amber List (moderate evidence)
Adult solid tumours for rare disease ATM Helen Brittain reviewed gene: ATM
Adult solid tumours for rare disease CHEK2 Helen Brittain classified CHEK2 as Amber List (moderate evidence)
Adult solid tumours for rare disease CHEK2 Helen Brittain reviewed gene: CHEK2
Non-syndromic familial congenital anorectal malformations CDX2 Eleanor Williams Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Zornitza Stark reviewed gene: RASGRP1
Gastrointestinal epithelial barrier disorders EPCAM Olivia Niblock classified EPCAM as Green List (high evidence)
Early onset or syndromic epilepsy ZBTB18 Zornitza Stark reviewed gene: ZBTB18
Early onset or syndromic epilepsy YWHAG Zornitza Stark reviewed gene: YWHAG
Early onset or syndromic epilepsy WDR73 Zornitza Stark reviewed gene: WDR73
Early onset or syndromic epilepsy WDR62 Zornitza Stark reviewed gene: WDR62
Early onset or syndromic epilepsy VLDLR Zornitza Stark reviewed gene: VLDLR
Early onset or syndromic epilepsy UNC80 Zornitza Stark reviewed gene: UNC80
Early onset or syndromic epilepsy UBA5 Zornitza Stark reviewed gene: UBA5
Early onset or syndromic epilepsy TUBG1 Zornitza Stark reviewed gene: TUBG1
Early onset or syndromic epilepsy TUBB4A Zornitza Stark reviewed gene: TUBB4A
Haematological malignancies for rare disease Ellen McDonagh promoted panel to version 1.0
Haematological malignancies for rare disease RAD51C Ellen McDonagh classified RAD51C as Amber List (moderate evidence)
Early onset or syndromic epilepsy TUBB3 Zornitza Stark reviewed gene: TUBB3
Early onset or syndromic epilepsy TUBB2B Zornitza Stark reviewed gene: TUBB2B
Early onset or syndromic epilepsy TUBB Zornitza Stark reviewed gene: TUBB
Early onset or syndromic epilepsy TUBA8 Zornitza Stark reviewed gene: TUBA8
Early onset or syndromic epilepsy TUBA1A Zornitza Stark reviewed gene: TUBA1A
Early onset or syndromic epilepsy TSFM Zornitza Stark reviewed gene: TSFM
Early onset or syndromic epilepsy TSEN54 Zornitza Stark reviewed gene: TSEN54
Early onset or syndromic epilepsy TSEN34 Zornitza Stark reviewed gene: TSEN34
Early onset or syndromic epilepsy TSEN2 Zornitza Stark reviewed gene: TSEN2
Early onset or syndromic epilepsy TSEN15 Zornitza Stark reviewed gene: TSEN15
Early onset or syndromic epilepsy TSC1 Zornitza Stark reviewed gene: TSC1
Early onset or syndromic epilepsy TRIP13 Zornitza Stark reviewed gene: TRIP13
Early onset or syndromic epilepsy TRIM8 Zornitza Stark reviewed gene: TRIM8
Early onset or syndromic epilepsy TREX1 Zornitza Stark reviewed gene: TREX1
Early onset or syndromic epilepsy TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B
Early onset or syndromic epilepsy TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12
Early onset or syndromic epilepsy TNK2 Zornitza Stark reviewed gene: TNK2
Early onset or syndromic epilepsy TNK2 Zornitza Stark reviewed gene: TNK2
Early onset or syndromic epilepsy TMEM70 Zornitza Stark reviewed gene: TMEM70
Early onset or syndromic epilepsy TIMM50 Zornitza Stark reviewed gene: TIMM50
Early onset or syndromic epilepsy TFE3 Zornitza Stark reviewed gene: TFE3
Early onset or syndromic epilepsy TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1
Early onset or syndromic epilepsy TBCK Zornitza Stark reviewed gene: TBCK
Early onset or syndromic epilepsy TBCD Zornitza Stark reviewed gene: TBCD
Early onset or syndromic epilepsy TBC1D20 Zornitza Stark reviewed gene: TBC1D20
Early onset or syndromic epilepsy SURF1 Zornitza Stark reviewed gene: SURF1
Early onset or syndromic epilepsy SUCLG1 Zornitza Stark reviewed gene: SUCLG1
Early onset or syndromic epilepsy SUCLA2 Zornitza Stark reviewed gene: SUCLA2
Early onset or syndromic epilepsy STAMBP Zornitza Stark reviewed gene: STAMBP
Early onset or syndromic epilepsy STAG1 Zornitza Stark reviewed gene: STAG1
Early onset or syndromic epilepsy ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5
Early onset or syndromic epilepsy ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3
Early onset or syndromic epilepsy SPR Zornitza Stark reviewed gene: SPR
Early onset or syndromic epilepsy SNORD118 Zornitza Stark reviewed gene: SNORD118
Non-syndromic familial congenital anorectal malformations EBF2 Eleanor Williams Added gene to panel
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
Early onset or syndromic epilepsy SMS Zornitza Stark reviewed gene: SMS
Early onset or syndromic epilepsy SMC1A Zornitza Stark reviewed gene: SMC1A
Early onset or syndromic epilepsy SMC1A Zornitza Stark reviewed gene: SMC1A
Early onset or syndromic epilepsy SLC6A8 Zornitza Stark reviewed gene: SLC6A8
Neonatal cholestasis SLC27A5 Sarah Leigh marked gene: SLC27A5 as ready
Early onset or syndromic epilepsy SLC6A5 Zornitza Stark reviewed gene: SLC6A5
Neonatal cholestasis SLC10A2 Sarah Leigh marked gene: SLC10A2 as ready
Early onset or syndromic epilepsy SLC45A1 Zornitza Stark reviewed gene: SLC45A1
Neonatal cholestasis SMPD1 Sarah Leigh marked gene: SMPD1 as ready
Early onset or syndromic epilepsy SLC35A1 Zornitza Stark reviewed gene: SLC35A1
Neonatal cholestasis SMPD1 Sarah Leigh classified SMPD1 as Green List (high evidence)
Early onset or syndromic epilepsy SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Early onset or syndromic epilepsy SIX3 Zornitza Stark reviewed gene: SIX3
Early onset or syndromic epilepsy SHH Zornitza Stark reviewed gene: SHH
Early onset or syndromic epilepsy SETD1B Zornitza Stark reviewed gene: SETD1B
Early onset or syndromic epilepsy SETBP1 Zornitza Stark reviewed gene: SETBP1
Neonatal cholestasis TMEM216 Sarah Leigh marked gene: TMEM216 as ready
Early onset or syndromic epilepsy SEPSECS Zornitza Stark reviewed gene: SEPSECS
Neonatal cholestasis TFR2 Sarah Leigh marked gene: TFR2 as ready
Neonatal cholestasis UTP4 Sarah Leigh marked gene: UTP4 as ready
Early onset or syndromic epilepsy SDHA Zornitza Stark reviewed gene: SDHA
Early onset or syndromic epilepsy SCO2 Zornitza Stark reviewed gene: SCO2
Early onset or syndromic epilepsy SCO1 Zornitza Stark reviewed gene: SCO1
Thyroid cancer pertinent cancer susceptibility WRN Ellen McDonagh commented on gene: WRN
Sarcoma cancer susceptibility T Ellen McDonagh commented on gene: T
Sarcoma cancer susceptibility SQSTM1 Ellen McDonagh commented on gene: SQSTM1
Sarcoma cancer susceptibility RECQL4 Ellen McDonagh commented on gene: RECQL4
Sarcoma cancer susceptibility PDGFRA Ellen McDonagh commented on gene: PDGFRA
Sarcoma cancer susceptibility MTAP Ellen McDonagh commented on gene: MTAP
Renal cancer pertinent cancer susceptibility PMS2 Ellen McDonagh commented on gene: PMS2
Renal cancer pertinent cancer susceptibility MSH6 Ellen McDonagh commented on gene: MSH6
Renal cancer pertinent cancer susceptibility MSH2 Ellen McDonagh commented on gene: MSH2
Renal cancer pertinent cancer susceptibility MLH1 Ellen McDonagh commented on gene: MLH1
Prostate cancer pertinent cancer susceptibility PMS2 Ellen McDonagh commented on gene: PMS2
Prostate cancer pertinent cancer susceptibility MSH6 Ellen McDonagh commented on gene: MSH6
Prostate cancer pertinent cancer susceptibility MSH2 Ellen McDonagh commented on gene: MSH2
Prostate cancer pertinent cancer susceptibility MLH1 Ellen McDonagh commented on gene: MLH1
Haematological malignancies cancer susceptibility RMRP Ellen McDonagh commented on gene: RMRP
Head and neck cancer pertinent cancer susceptibility SLX4 Ellen McDonagh classified SLX4 as Green List (high evidence)
Head and neck cancer pertinent cancer susceptibility SLX4 Ellen McDonagh Added gene to panel
Haematological malignancies cancer susceptibility RAD51C Ellen McDonagh commented on gene: RAD51C
Early onset or syndromic epilepsy SAMHD1 Zornitza Stark reviewed gene: SAMHD1
Early onset or syndromic epilepsy RUSC2 Zornitza Stark reviewed gene: RUSC2
Early onset or syndromic epilepsy RTTN Zornitza Stark reviewed gene: RTTN
Early onset or syndromic epilepsy RRM2B Zornitza Stark reviewed gene: RRM2B
Early onset or syndromic epilepsy RORB Zornitza Stark reviewed gene: RORB
Adult solid tumours cancer susceptibility CHEK2 Ellen McDonagh classified CHEK2 as Amber List (moderate evidence)
Adult solid tumours cancer susceptibility CDKN1B Ellen McDonagh commented on gene: CDKN1B
Adult solid tumours for rare disease CHEK2 Ellen McDonagh classified CHEK2 as Green List (high evidence)
Adult solid tumours for rare disease CDKN1B Ellen McDonagh commented on gene: CDKN1B
Adult solid tumours for rare disease CHEK2 Ellen McDonagh classified CHEK2 as Red List (low evidence)
Early onset or syndromic epilepsy RORA Zornitza Stark reviewed gene: RORA
Early onset or syndromic epilepsy ROGDI Zornitza Stark reviewed gene: ROGDI
Early onset or syndromic epilepsy RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC
Early onset or syndromic epilepsy RNASET2 Zornitza Stark reviewed gene: RNASET2
Early onset or syndromic epilepsy RNASEH2C Zornitza Stark reviewed gene: RNASEH2C
Early onset or syndromic epilepsy RNASEH2B Zornitza Stark reviewed gene: RNASEH2B
Early onset or syndromic epilepsy RNASEH2A Zornitza Stark reviewed gene: RNASEH2A
Early onset or syndromic epilepsy RMND1 Zornitza Stark reviewed gene: RMND1
Early onset or syndromic epilepsy RFT1 Zornitza Stark reviewed gene: RFT1
Early onset or syndromic epilepsy RARS2 Zornitza Stark reviewed gene: RARS2
Early onset or syndromic epilepsy RANBP2 Zornitza Stark reviewed gene: RANBP2
Early onset or syndromic epilepsy RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2
Early onset or syndromic epilepsy RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1
Early onset or syndromic epilepsy RAB18 Zornitza Stark reviewed gene: RAB18
Early onset or syndromic epilepsy RAB11B Zornitza Stark reviewed gene: RAB11B
Early onset or syndromic epilepsy QDPR Zornitza Stark reviewed gene: QDPR
Early onset or syndromic epilepsy PTS Zornitza Stark reviewed gene: PTS
Early onset or syndromic epilepsy PTF1A Zornitza Stark reviewed gene: PTF1A
Early onset or syndromic epilepsy PTEN Zornitza Stark reviewed gene: PTEN
Early onset or syndromic epilepsy PSPH Zornitza Stark reviewed gene: PSPH
Early onset or syndromic epilepsy PSAT1 Zornitza Stark reviewed gene: PSAT1
Early onset or syndromic epilepsy PSAP Zornitza Stark reviewed gene: PSAP
Early onset or syndromic epilepsy PROSC Zornitza Stark reviewed gene: PROSC
Early onset or syndromic epilepsy PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1
Early onset or syndromic epilepsy PPT1 Zornitza Stark reviewed gene: PPT1
Early onset or syndromic epilepsy PPP3CA Zornitza Stark reviewed gene: PPP3CA
Early onset or syndromic epilepsy POMT2 Zornitza Stark reviewed gene: POMT2
Early onset or syndromic epilepsy POMT1 Zornitza Stark reviewed gene: POMT1
Early onset or syndromic epilepsy POMGNT1 Zornitza Stark reviewed gene: POMGNT1
Early onset or syndromic epilepsy PMM2 Zornitza Stark reviewed gene: PMM2
Early onset or syndromic epilepsy PLAA Zornitza Stark reviewed gene: PLAA
Early onset or syndromic epilepsy PIK3R2 Zornitza Stark reviewed gene: PIK3R2
Early onset or syndromic epilepsy PIK3CA Zornitza Stark reviewed gene: PIK3CA
Early onset or syndromic epilepsy PIGW Zornitza Stark reviewed gene: PIGW
Early onset or syndromic epilepsy CUX2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability CUX2 Konstantinos Varvagiannis reviewed gene: CUX2
Intellectual disability RORA Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy RORA Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy PIGO Zornitza Stark reviewed gene: PIGO
Early onset or syndromic epilepsy PIGC Zornitza Stark reviewed gene: PIGC
Early onset or syndromic epilepsy PHGDH Zornitza Stark reviewed gene: PHGDH
Early onset or syndromic epilepsy PEX7 Zornitza Stark reviewed gene: PEX7
Early onset or syndromic epilepsy PEX1 Zornitza Stark reviewed gene: PEX1
Early onset or syndromic epilepsy PET100 Zornitza Stark reviewed gene: PET100
Early onset or syndromic epilepsy PDSS2 Zornitza Stark reviewed gene: PDSS2
Early onset or syndromic epilepsy PDHX Zornitza Stark reviewed gene: PDHX
Early onset or syndromic epilepsy PDHA1 Zornitza Stark reviewed gene: PDHA1
Early onset or syndromic epilepsy PCLO Zornitza Stark reviewed gene: PCLO
Early onset or syndromic epilepsy PCDH12 Zornitza Stark reviewed gene: PCDH12
Early onset or syndromic epilepsy PCCB Zornitza Stark reviewed gene: PCCB
Early onset or syndromic epilepsy PCCA Zornitza Stark reviewed gene: PCCA
Early onset or syndromic epilepsy PAH Zornitza Stark reviewed gene: PAH
Early onset or syndromic epilepsy PAFAH1B1 Zornitza Stark reviewed gene: PAFAH1B1
Early onset or syndromic epilepsy PACS2 Zornitza Stark reviewed gene: PACS2
Early onset or syndromic epilepsy PACS1 Zornitza Stark reviewed gene: PACS1
Early onset or syndromic epilepsy OTX2 Zornitza Stark reviewed gene: OTX2
Early onset or syndromic epilepsy OPHN1 Zornitza Stark reviewed gene: OPHN1
Early onset or syndromic epilepsy OCLN Zornitza Stark reviewed gene: OCLN
Early onset or syndromic epilepsy NUBPL Zornitza Stark reviewed gene: NUBPL
Early onset or syndromic epilepsy NSDHL Zornitza Stark reviewed gene: NSDHL
Early onset or syndromic epilepsy NSD1 Zornitza Stark reviewed gene: NSD1
Early onset or syndromic epilepsy NRXN1 Zornitza Stark reviewed gene: NRXN1
Early onset or syndromic epilepsy NRAS Zornitza Stark reviewed gene: NRAS
Early onset or syndromic epilepsy NPRL3 Zornitza Stark reviewed gene: NPRL3
Early onset or syndromic epilepsy NPRL2 Zornitza Stark reviewed gene: NPRL2
Early onset or syndromic epilepsy NHLRC1 Zornitza Stark reviewed gene: NHLRC1
Early onset or syndromic epilepsy NGLY1 Zornitza Stark reviewed gene: NGLY1
Early onset or syndromic epilepsy NEDD4L Zornitza Stark reviewed gene: NEDD4L
Early onset or syndromic epilepsy NECAP1 Zornitza Stark commented on gene: NECAP1
Early onset or syndromic epilepsy NECAP1 Zornitza Stark reviewed gene: NECAP1
Early onset or syndromic epilepsy NDUFV1 Zornitza Stark commented on gene: NDUFV1
Early onset or syndromic epilepsy NDUFV1 Zornitza Stark reviewed gene: NDUFV1
Early onset or syndromic epilepsy NDUFS8 Zornitza Stark reviewed gene: NDUFS8
Early onset or syndromic epilepsy NDUFS7 Zornitza Stark reviewed gene: NDUFS7
Early onset or syndromic epilepsy NDUFS6 Zornitza Stark reviewed gene: NDUFS6
Early onset or syndromic epilepsy NDUFS4 Zornitza Stark reviewed gene: NDUFS4
Early onset or syndromic epilepsy NDUFS2 Zornitza Stark reviewed gene: NDUFS2
Early onset or syndromic epilepsy NDUFS1 Zornitza Stark reviewed gene: NDUFS1
Early onset or syndromic epilepsy NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5
Early onset or syndromic epilepsy NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4
Early onset or syndromic epilepsy NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3
Early onset or syndromic epilepsy NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2
Early onset or syndromic epilepsy NDUFA2 Zornitza Stark reviewed gene: NDUFA2
Early onset or syndromic epilepsy NDUFA10 Zornitza Stark reviewed gene: NDUFA10
Early onset or syndromic epilepsy NDUFA1 Zornitza Stark reviewed gene: NDUFA1
Early onset or syndromic epilepsy NDP Zornitza Stark reviewed gene: NDP
Early onset or syndromic epilepsy NDE1 Zornitza Stark reviewed gene: NDE1
Early onset or syndromic epilepsy NARS2 Zornitza Stark reviewed gene: NARS2
Early onset or syndromic epilepsy NAGA Zornitza Stark reviewed gene: NAGA
Early onset or syndromic epilepsy PACS1 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Intellectual disability PACS2 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy MTR Zornitza Stark reviewed gene: MTR
Early onset or syndromic epilepsy MTHFR Zornitza Stark reviewed gene: MTHFR
Early onset or syndromic epilepsy MPDU1 Zornitza Stark reviewed gene: MPDU1
Early onset or syndromic epilepsy MOCS2 Zornitza Stark reviewed gene: MOCS2
Early onset or syndromic epilepsy MOCS1 Zornitza Stark reviewed gene: MOCS1
Early onset or syndromic epilepsy MMADHC Zornitza Stark reviewed gene: MMADHC
Early onset or syndromic epilepsy MMACHC Zornitza Stark reviewed gene: MMACHC
Early onset or syndromic epilepsy MLC1 Zornitza Stark reviewed gene: MLC1
Early onset or syndromic epilepsy MED12 Zornitza Stark reviewed gene: MED12
Early onset or syndromic epilepsy MAPK10 Zornitza Stark reviewed gene: MAPK10
Early onset or syndromic epilepsy MAP2K2 Zornitza Stark reviewed gene: MAP2K2
Early onset or syndromic epilepsy MAP2K1 Zornitza Stark reviewed gene: MAP2K1
Early onset or syndromic epilepsy MANBA Zornitza Stark reviewed gene: MANBA
Early onset or syndromic epilepsy LNPK Zornitza Stark reviewed gene: LNPK
Early onset or syndromic epilepsy LIPT2 Zornitza Stark reviewed gene: LIPT2
Early onset or syndromic epilepsy LIAS Zornitza Stark reviewed gene: LIAS
Early onset or syndromic epilepsy LARGE1 Zornitza Stark reviewed gene: LARGE1
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Early onset or syndromic epilepsy GRIA4 Zornitza Stark Added gene to panel
Early onset or syndromic epilepsy KRAS Zornitza Stark reviewed gene: KRAS
Early onset or syndromic epilepsy KPTN Zornitza Stark reviewed gene: KPTN
Early onset or syndromic epilepsy KIF5C Zornitza Stark reviewed gene: KIF5C
Early onset or syndromic epilepsy KIF2A Zornitza Stark reviewed gene: KIF2A
Early onset or syndromic epilepsy KIF1A Zornitza Stark reviewed gene: KIF1A
Early onset or syndromic epilepsy KIAA1109 Zornitza Stark reviewed gene: KIAA1109
Early onset or syndromic epilepsy KCTD3 Zornitza Stark reviewed gene: KCTD3
Early onset or syndromic epilepsy KCNQ5 Zornitza Stark reviewed gene: KCNQ5
Early onset or syndromic epilepsy KCNMA1 Zornitza Stark reviewed gene: KCNMA1
Early onset or syndromic epilepsy KCNJ11 Zornitza Stark reviewed gene: KCNJ11
Early onset or syndromic epilepsy KAT5 Zornitza Stark reviewed gene: KAT5
Early onset or syndromic epilepsy ISPD Zornitza Stark reviewed gene: ISPD
Early onset or syndromic epilepsy IRF2BPL Zornitza Stark reviewed gene: IRF2BPL
Early onset or syndromic epilepsy IKBKG Zornitza Stark reviewed gene: IKBKG
Early onset or syndromic epilepsy IFIH1 Zornitza Stark reviewed gene: IFIH1
Neonatal cholestasis TFR2 Eleanor Williams classified TFR2 as Amber List (moderate evidence)
Neonatal cholestasis TFR2 Eleanor Williams commented on gene: TFR2
Early onset or syndromic epilepsy FBXO11 Konstantinos Varvagiannis Added gene to panel
Intellectual disability FBXO11 Konstantinos Varvagiannis Added gene to panel
Intellectual disability SYT1 Louise Daugherty classified SYT1 as Green List (high evidence)
Intellectual disability SYT1 Louise Daugherty commented on gene: SYT1
Intellectual disability SYT1 Louise Daugherty edited their review of gene: SYT1
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)
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Intellectual disability CCDC8 Louise Daugherty reviewed gene: CCDC8
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis Added gene to panel
Intellectual disability CDKN1C Louise Daugherty edited their review of gene: CDKN1C
Intellectual disability IRF2BPL Konstantinos Varvagiannis Added gene to panel
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)
Early onset or syndromic epilepsy H3F3B Konstantinos Varvagiannis reviewed gene: H3F3B
Neonatal cholestasis HFE Sarah Leigh marked gene: HFE as ready
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Red List (low evidence)
Early onset or syndromic epilepsy HSPD1 Zornitza Stark reviewed gene: HSPD1
Early onset or syndromic epilepsy HSD17B4 Zornitza Stark reviewed gene: HSD17B4
Early onset or syndromic epilepsy HRAS Zornitza Stark reviewed gene: HRAS
Early onset or syndromic epilepsy HPRT1 Zornitza Stark reviewed gene: HPRT1
Early onset or syndromic epilepsy HOXA1 Zornitza Stark reviewed gene: HOXA1
Early onset or syndromic epilepsy HLCS Zornitza Stark reviewed gene: HLCS
Early onset or syndromic epilepsy HEXB Zornitza Stark reviewed gene: HEXB
Early onset or syndromic epilepsy HEXA Zornitza Stark reviewed gene: HEXA
Early onset or syndromic epilepsy HEPACAM Zornitza Stark reviewed gene: HEPACAM
Early onset or syndromic epilepsy HCN2 Zornitza Stark reviewed gene: HCN2
Early onset or syndromic epilepsy HCFC1 Zornitza Stark reviewed gene: HCFC1
Early onset or syndromic epilepsy HCCS Zornitza Stark reviewed gene: HCCS
Early onset or syndromic epilepsy HAX1 Zornitza Stark reviewed gene: HAX1
Early onset or syndromic epilepsy H3F3B Zornitza Stark reviewed gene: H3F3B
Early onset or syndromic epilepsy H3F3A Zornitza Stark reviewed gene: H3F3A
Early onset or syndromic epilepsy LNPK Konstantinos Varvagiannis Added gene to panel
Intellectual disability LNPK Konstantinos Varvagiannis Added gene to panel
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
Early onset or syndromic epilepsy GTPBP3 Zornitza Stark reviewed gene: GTPBP3
Early onset or syndromic epilepsy GRIN2D Zornitza Stark reviewed gene: GRIN2D
Early onset or syndromic epilepsy GPHN Zornitza Stark reviewed gene: GPHN
Early onset or syndromic epilepsy GOSR2 Zornitza Stark reviewed gene: GOSR2
Early onset or syndromic epilepsy GNB1 Zornitza Stark reviewed gene: GNB1
Early onset or syndromic epilepsy GNAQ Zornitza Stark reviewed gene: GNAQ
Early onset or syndromic epilepsy GM2A Zornitza Stark reviewed gene: GM2A
Early onset or syndromic epilepsy GLUL Zornitza Stark reviewed gene: GLUL
Neonatal cholestasis EHHADH Sarah Leigh marked gene: EHHADH as ready
Neonatal cholestasis DHCR7 Sarah Leigh marked gene: DHCR7 as ready
Early onset or syndromic epilepsy DHCR7 Sarah Leigh classified DHCR7 as Green List (high evidence)
Early onset or syndromic epilepsy DHCR7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ADPRHL2 Konstantinos Varvagiannis reviewed gene: ADPRHL2
Intellectual disability ADPRHL2 Konstantinos Varvagiannis Added gene to panel
Neonatal cholestasis CYP7A1 Sarah Leigh marked gene: CYP7A1 as ready
Early onset or syndromic epilepsy GLUD1 Zornitza Stark reviewed gene: GLUD1
Early onset or syndromic epilepsy GLI3 Zornitza Stark reviewed gene: GLI3
Early onset or syndromic epilepsy GLDC Zornitza Stark reviewed gene: GLDC
Early onset or syndromic epilepsy GLB1 Zornitza Stark reviewed gene: GLB1
Early onset or syndromic epilepsy GFM1 Zornitza Stark reviewed gene: GFM1
Early onset or syndromic epilepsy GFAP Zornitza Stark reviewed gene: GFAP
Neonatal cholestasis ATP7B Sarah Leigh classified ATP7B as Red List (low evidence)
Intellectual disability SYT1 Zornitza Stark reviewed gene: SYT1
Neonatal cholestasis POLG Sarah Leigh marked gene: POLG as ready
Neonatal cholestasis POLG Sarah Leigh classified POLG as Green List (high evidence)
Early onset or syndromic epilepsy COG7 Sarah Leigh marked gene: COG7 as ready
Neonatal cholestasis COG7 Sarah Leigh marked gene: COG7 as ready
Neonatal cholestasis COG7 Sarah Leigh classified COG7 as Green List (high evidence)
Early onset or syndromic epilepsy COG7 Sarah Leigh classified COG7 as Green List (high evidence)
Monogenic hearing loss KCNQ4 Ellen McDonagh edited their review of gene: KCNQ4
Neonatal cholestasis CC2D2A Sarah Leigh classified CC2D2A as Green List (high evidence)
Neonatal cholestasis CC2D2A Sarah Leigh marked gene: CC2D2A as ready
Monogenic hearing loss KCNQ4 Ellen McDonagh edited their review of gene: KCNQ4
Early onset or syndromic epilepsy GCSH Zornitza Stark reviewed gene: GCSH
Early onset or syndromic epilepsy GCH1 Zornitza Stark reviewed gene: GCH1
Early onset or syndromic epilepsy GBA Zornitza Stark reviewed gene: GBA
Early onset or syndromic epilepsy GAMT Zornitza Stark reviewed gene: GAMT
Early onset or syndromic epilepsy GALC Zornitza Stark reviewed gene: GALC
Early onset or syndromic epilepsy GABRB2 Zornitza Stark reviewed gene: GABRB2
Early onset or syndromic epilepsy FUCA1 Zornitza Stark reviewed gene: FUCA1
Early onset or syndromic epilepsy FRRS1L Zornitza Stark reviewed gene: FRRS1L
Early onset or syndromic epilepsy FOXRED1 Zornitza Stark reviewed gene: FOXRED1
Early onset or syndromic epilepsy FOLR1 Zornitza Stark reviewed gene: FOLR1
Early onset or syndromic epilepsy FLNA Zornitza Stark reviewed gene: FLNA
Early onset or syndromic epilepsy FKTN Zornitza Stark reviewed gene: FKTN
Early onset or syndromic epilepsy FKRP Zornitza Stark reviewed gene: FKRP
Early onset or syndromic epilepsy FIG4 Zornitza Stark reviewed gene: FIG4
Intellectual disability TBC1D7 Konstantinos Varvagiannis reviewed gene: TBC1D7
Intellectual disability TBC1D7 Konstantinos Varvagiannis edited their review of gene: TBC1D7
Intellectual disability TUBG1 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GPHN Konstantinos Varvagiannis reviewed gene: GPHN
Intellectual disability MNX1 Konstantinos Varvagiannis reviewed gene: MNX1
Intellectual disability MTO1 Konstantinos Varvagiannis reviewed gene: MTO1
Optic neuropathy SLC52A2 Ellen McDonagh classified SLC52A2 as Green List (high evidence)
Optic neuropathy SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Optic neuropathy SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Optic neuropathy SLC52A2 Ellen McDonagh Added gene to panel
Hereditary neuropathy SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Undiagnosed metabolic disorders SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Paediatric motor neuronopathies SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Rare syndromic craniosynostosis or isolated multisuture synostosis TLK2 Ellen McDonagh commented on gene: TLK2
Rare syndromic craniosynostosis or isolated multisuture synostosis TLK2 Ellen McDonagh classified TLK2 as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis TLK2 Ellen McDonagh Added gene to panel
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis ALX4 Louise Daugherty classified ALX4 as Green List (high evidence)
Hereditary ataxia SPTBN2 Ellen McDonagh commented on gene: SPTBN2
Intellectual disability ALX4 Louise Daugherty edited their review of gene: ALX4
Rare syndromic craniosynostosis or isolated multisuture synostosis ALX4 Louise Daugherty reviewed gene: ALX4
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as Green List (high evidence)
Neonatal cholestasis ARG1 Sarah Leigh marked gene: ARG1 as ready
Cystic kidney disease DNAJB11 Ellen McDonagh classified DNAJB11 as Green List (high evidence)
Intellectual disability ATP6AP2 Louise Daugherty classified ATP6AP2 as Green List (high evidence)
Intellectual disability ATP6AP2 Louise Daugherty commented on gene: ATP6AP2
Neonatal cholestasis PEX7 Sarah Leigh marked gene: PEX7 as ready
Early onset or syndromic epilepsy PEX6 Sarah Leigh classified PEX6 as Green List (high evidence)
Early onset or syndromic epilepsy PEX6 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX6 Sarah Leigh classified PEX6 as Green List (high evidence)
Intellectual disability CA2 Louise Daugherty commented on gene: CA2
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)
Early onset or syndromic epilepsy PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy PEX5 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX3 Sarah Leigh marked gene: PEX3 as ready
Neonatal cholestasis PEX3 Sarah Leigh classified PEX3 as Green List (high evidence)
Early onset or syndromic epilepsy PEX3 Sarah Leigh classified PEX3 as Green List (high evidence)
Early onset or syndromic epilepsy PEX3 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX26 Sarah Leigh marked gene: PEX26 as ready
Neonatal cholestasis PEX26 Sarah Leigh classified PEX26 as Green List (high evidence)
Early onset or syndromic epilepsy FH Zornitza Stark reviewed gene: FH
Early onset or syndromic epilepsy FGFR3 Zornitza Stark reviewed gene: FGFR3
Intellectual disability CA2 Louise Daugherty edited their review of gene: CA2
Early onset or syndromic epilepsy PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Early onset or syndromic epilepsy PEX19 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX19 Sarah Leigh marked gene: PEX19 as ready
Early onset or syndromic epilepsy FGF12 Zornitza Stark reviewed gene: FGF12
Neonatal cholestasis PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Early onset or syndromic epilepsy FBXL4 Zornitza Stark reviewed gene: FBXL4
Early onset or syndromic epilepsy FASTKD2 Zornitza Stark reviewed gene: FASTKD2
Early onset or syndromic epilepsy FARS2 Zornitza Stark reviewed gene: FARS2
Intellectual disability KIF2A Konstantinos Varvagiannis reviewed gene: KIF2A
Neonatal cholestasis PEX16 Sarah Leigh marked gene: PEX16 as ready
Early onset or syndromic epilepsy EXOSC3 Zornitza Stark reviewed gene: EXOSC3
Neonatal cholestasis PEX16 Sarah Leigh classified PEX16 as Green List (high evidence)
Early onset or syndromic epilepsy ETHE1 Zornitza Stark reviewed gene: ETHE1
Early onset or syndromic epilepsy EMX2 Zornitza Stark reviewed gene: EMX2
Early onset or syndromic epilepsy EIF2S3 Zornitza Stark reviewed gene: EIF2S3
Early onset or syndromic epilepsy EIF2B5 Zornitza Stark reviewed gene: EIF2B5
Early onset or syndromic epilepsy EIF2B4 Zornitza Stark reviewed gene: EIF2B4
Early onset or syndromic epilepsy EIF2B3 Zornitza Stark reviewed gene: EIF2B3
Early onset or syndromic epilepsy EIF2B2 Zornitza Stark reviewed gene: EIF2B2
Early onset or syndromic epilepsy EIF2B1 Zornitza Stark reviewed gene: EIF2B1
Early onset or syndromic epilepsy EEF1A2 Zornitza Stark reviewed gene: EEF1A2
Early onset or syndromic epilepsy EARS2 Zornitza Stark reviewed gene: EARS2
Limb disorders SLX4 Ellen McDonagh Added gene to panel
Limb disorders RPS7 Ellen McDonagh Added gene to panel
Limb disorders RPS29 Ellen McDonagh Added gene to panel
Limb disorders RPS28 Ellen McDonagh Added gene to panel
Limb disorders RPS26 Ellen McDonagh Added gene to panel
Limb disorders RPS24 Ellen McDonagh Added gene to panel
Limb disorders RPS19 Ellen McDonagh Added gene to panel
Limb disorders RPS17 Ellen McDonagh Added gene to panel
Limb disorders RPS10 Ellen McDonagh Added gene to panel
Limb disorders RPL5 Ellen McDonagh Added gene to panel
Limb disorders RPL35A Ellen McDonagh Added gene to panel
Limb disorders RPL26 Ellen McDonagh Added gene to panel
Limb disorders RPL11 Ellen McDonagh Added gene to panel
Limb disorders RAD51C Ellen McDonagh Added gene to panel
Limb disorders PALB2 Ellen McDonagh Added gene to panel
Limb disorders GATA1 Ellen McDonagh Added gene to panel
Limb disorders FANCM Ellen McDonagh Added gene to panel
Limb disorders FANCL Ellen McDonagh Added gene to panel
Limb disorders FANCI Ellen McDonagh Added gene to panel
Limb disorders FANCG Ellen McDonagh Added gene to panel
Limb disorders FANCF Ellen McDonagh Added gene to panel
Limb disorders FANCE Ellen McDonagh Added gene to panel
Limb disorders FANCD2 Ellen McDonagh Added gene to panel
Limb disorders FANCC Ellen McDonagh Added gene to panel
Limb disorders FANCB Ellen McDonagh Added gene to panel
Limb disorders FANCA Ellen McDonagh Added gene to panel
Limb disorders ERCC4 Ellen McDonagh Added gene to panel
Limb disorders BRIP1 Ellen McDonagh Added gene to panel
Limb disorders BRCA2 Ellen McDonagh Added gene to panel
Limb disorders ZSWIM6 Ellen McDonagh Added gene to panel
Limb disorders WDR35 Ellen McDonagh Added gene to panel
Limb disorders WDR34 Ellen McDonagh Added gene to panel
Limb disorders WDR19 Ellen McDonagh Added gene to panel
Limb disorders WDPCP Ellen McDonagh Added gene to panel
Limb disorders USP9X Ellen McDonagh Added gene to panel
Limb disorders UBE3B Ellen McDonagh Added gene to panel
Limb disorders TWIST1 Ellen McDonagh Added gene to panel
Limb disorders TTC8 Ellen McDonagh Added gene to panel
Limb disorders TTC21B Ellen McDonagh Added gene to panel
Limb disorders TRIM32 Ellen McDonagh Added gene to panel
Limb disorders TRAF3IP1 Ellen McDonagh Added gene to panel
Limb disorders TMEM237 Ellen McDonagh Added gene to panel
Limb disorders TMEM231 Ellen McDonagh Added gene to panel
Limb disorders TMEM216 Ellen McDonagh Added gene to panel
Limb disorders TMEM138 Ellen McDonagh Added gene to panel
Limb disorders TFAP2B Ellen McDonagh Added gene to panel
Limb disorders TFAP2A Ellen McDonagh Added gene to panel
Limb disorders TCTN3 Ellen McDonagh Added gene to panel
Limb disorders TCTN2 Ellen McDonagh Added gene to panel
Limb disorders TCTEX1D2 Ellen McDonagh Added gene to panel
Limb disorders TBX22 Ellen McDonagh Added gene to panel
Limb disorders SPINT2 Ellen McDonagh Added gene to panel
Limb disorders SMO Ellen McDonagh Added gene to panel
Limb disorders SDCCAG8 Ellen McDonagh Added gene to panel
Limb disorders SC5D Ellen McDonagh Added gene to panel
Limb disorders RBM10 Ellen McDonagh Added gene to panel
Limb disorders PROM1 Ellen McDonagh Added gene to panel
Limb disorders PNPLA6 Ellen McDonagh Added gene to panel
Limb disorders PIK3R2 Ellen McDonagh Added gene to panel
Limb disorders PIK3CA Ellen McDonagh Added gene to panel
Limb disorders PDE6D Ellen McDonagh Added gene to panel
Limb disorders NPHP3 Ellen McDonagh Added gene to panel
Limb disorders MKKS Ellen McDonagh Added gene to panel
Limb disorders MEGF8 Ellen McDonagh Added gene to panel
Limb disorders MBTPS2 Ellen McDonagh Added gene to panel
Limb disorders LZTFL1 Ellen McDonagh Added gene to panel
Limb disorders LBR Ellen McDonagh Added gene to panel
Limb disorders INPP5E Ellen McDonagh Added gene to panel
Limb disorders IFT80 Ellen McDonagh Added gene to panel
Limb disorders IFT52 Ellen McDonagh Added gene to panel
Limb disorders IFT27 Ellen McDonagh Added gene to panel
Limb disorders IFT172 Ellen McDonagh Added gene to panel
Limb disorders IFT140 Ellen McDonagh Added gene to panel
Limb disorders ICK Ellen McDonagh Added gene to panel
Limb disorders HYLS1 Ellen McDonagh Added gene to panel
Limb disorders HNRNPK Ellen McDonagh Added gene to panel
Limb disorders GRIP1 Ellen McDonagh Added gene to panel
Limb disorders GPC3 Ellen McDonagh Added gene to panel
Limb disorders GLI2 Ellen McDonagh Added gene to panel
Limb disorders FREM2 Ellen McDonagh Added gene to panel
Limb disorders FRAS1 Ellen McDonagh Added gene to panel
Limb disorders EVC2 Ellen McDonagh Added gene to panel
Limb disorders EVC Ellen McDonagh Added gene to panel
Limb disorders EBP Ellen McDonagh Added gene to panel
Limb disorders DYNC2LI1 Ellen McDonagh Added gene to panel
Limb disorders DDX59 Ellen McDonagh Added gene to panel
Limb disorders CSPP1 Ellen McDonagh Added gene to panel
Limb disorders CKAP2L Ellen McDonagh Added gene to panel
Limb disorders CEP41 Ellen McDonagh Added gene to panel
Limb disorders CEP164 Ellen McDonagh Added gene to panel
Limb disorders CEP120 Ellen McDonagh Added gene to panel
Limb disorders CENPF Ellen McDonagh Added gene to panel
Limb disorders CD96 Ellen McDonagh Added gene to panel
Limb disorders CCND2 Ellen McDonagh Added gene to panel
Limb disorders C5orf42 Ellen McDonagh Added gene to panel
Limb disorders C2CD3 Ellen McDonagh Added gene to panel
Limb disorders BMP4 Ellen McDonagh Added gene to panel
Limb disorders BBS9 Ellen McDonagh Added gene to panel
Limb disorders BBS7 Ellen McDonagh Added gene to panel
Limb disorders BBS5 Ellen McDonagh Added gene to panel
Limb disorders BBS4 Ellen McDonagh Added gene to panel
Limb disorders BBS2 Ellen McDonagh Added gene to panel
Limb disorders BBS12 Ellen McDonagh Added gene to panel
Limb disorders BBS10 Ellen McDonagh Added gene to panel
Limb disorders BBS1 Ellen McDonagh Added gene to panel
Limb disorders B9D2 Ellen McDonagh Added gene to panel
Limb disorders B9D1 Ellen McDonagh Added gene to panel
Limb disorders ARMC8 Ellen McDonagh Added gene to panel
Limb disorders ARL6 Ellen McDonagh Added gene to panel
Limb disorders ALX3 Ellen McDonagh Added gene to panel
Limb disorders ALMS1 Ellen McDonagh Added gene to panel
Limb disorders AKT3 Ellen McDonagh Added gene to panel
Limb disorders AHI1 Ellen McDonagh Added gene to panel
Clefting TSR2 Ellen McDonagh Added gene to panel
Clefting TFAP2B Ellen McDonagh Added gene to panel
Clefting SELENOI Ellen McDonagh Added gene to panel
Clefting RSPO2 Ellen McDonagh Added gene to panel
Clefting RPL11 Ellen McDonagh Added gene to panel
Clefting PLCB4 Ellen McDonagh Added gene to panel
Clefting PGM1 Ellen McDonagh Added gene to panel
Clefting INTS1 Ellen McDonagh Added gene to panel
Clefting GNAI3 Ellen McDonagh Added gene to panel
Clefting FOXE1 Ellen McDonagh Added gene to panel
Clefting EIF4A3 Ellen McDonagh Added gene to panel
Clefting EDN1 Ellen McDonagh Added gene to panel
Clefting COL9A3 Ellen McDonagh Added gene to panel
Clefting CHD1 Ellen McDonagh Added gene to panel
Clefting BMP2 Ellen McDonagh Added gene to panel
Clefting ACBD5 Ellen McDonagh Added gene to panel
Cytopenias and congenital anaemias ADA2 Louise Daugherty edited their review of gene: ADA2
Intellectual disability GABBR2 Konstantinos Varvagiannis reviewed gene: GABBR2
Intellectual disability HERC2 Konstantinos Varvagiannis reviewed gene: HERC2
Intellectual disability ASNS Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1
Early onset or syndromic epilepsy DPM2 Zornitza Stark reviewed gene: DPM2
Early onset or syndromic epilepsy DPM1 Zornitza Stark reviewed gene: DPM1
Early onset or syndromic epilepsy DPAGT1 Zornitza Stark reviewed gene: DPAGT1
Early onset or syndromic epilepsy DOLK Zornitza Stark reviewed gene: DOLK
Early onset or syndromic epilepsy DNM1L Zornitza Stark reviewed gene: DNM1L
Early onset or syndromic epilepsy DNAJC6 Zornitza Stark reviewed gene: DNAJC6
Early onset or syndromic epilepsy DHCR24 Zornitza Stark reviewed gene: DHCR24
Early onset or syndromic epilepsy DENND5A Zornitza Stark reviewed gene: DENND5A
Early onset or syndromic epilepsy ADPRHL2 Zornitza Stark Added gene to panel
Early onset or syndromic epilepsy DDX3X Zornitza Stark reviewed gene: DDX3X
Early onset or syndromic epilepsy DCX Zornitza Stark reviewed gene: DCX
Early onset or syndromic epilepsy DBT Zornitza Stark reviewed gene: DBT
Early onset or syndromic epilepsy D2HGDH Zornitza Stark reviewed gene: D2HGDH
Early onset or syndromic epilepsy CTSD Zornitza Stark reviewed gene: CTSD
Early onset or syndromic epilepsy CSTB Zornitza Stark reviewed gene: CSTB
Early onset or syndromic epilepsy CSNK2B Zornitza Stark reviewed gene: CSNK2B
Early onset or syndromic epilepsy COX15 Zornitza Stark reviewed gene: COX15
Early onset or syndromic epilepsy COX10 Zornitza Stark reviewed gene: COX10
Intellectual disability TBC1D7 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy COQ9 Zornitza Stark reviewed gene: COQ9
Early onset or syndromic epilepsy COQ6 Zornitza Stark reviewed gene: COQ6
Early onset or syndromic epilepsy COQ4 Zornitza Stark reviewed gene: COQ4
Early onset or syndromic epilepsy COQ2 Zornitza Stark reviewed gene: COQ2
Intellectual disability GPT2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GABRB2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability CNOT3 Louise Daugherty classified CNOT3 as Green List (high evidence)
Hereditary spastic paraplegia ERLIN2 Louise Daugherty classified ERLIN2 as Green List (high evidence)
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Red List (low evidence)
Undiagnosed metabolic disorders ATP7A Ellen McDonagh commented on gene: ATP7A
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Amber List (moderate evidence)
Intellectual disability ERLIN2 Louise Daugherty classified ERLIN2 as Green List (high evidence)
Intellectual disability ERLIN2 Louise Daugherty reviewed gene: ERLIN2
Intellectual disability COQ5 Louise Daugherty edited their review of gene: COQ5
Early onset or syndromic epilepsy COL4A2 Zornitza Stark reviewed gene: COL4A2
Early onset or syndromic epilepsy COL4A1 Zornitza Stark reviewed gene: COL4A1
Early onset or syndromic epilepsy COL18A1 Zornitza Stark reviewed gene: COL18A1
Early onset or syndromic epilepsy COG8 Zornitza Stark reviewed gene: COG8
Early onset or syndromic epilepsy COG7 Zornitza Stark reviewed gene: COG7
Early onset or syndromic epilepsy COG6 Zornitza Stark reviewed gene: COG6
Early onset or syndromic epilepsy COG4 Zornitza Stark reviewed gene: COG4
Early onset or syndromic epilepsy CNPY3 Zornitza Stark reviewed gene: CNPY3
Early onset or syndromic epilepsy CLN3 Zornitza Stark reviewed gene: CLN3
Early onset or syndromic epilepsy CLCN4 Zornitza Stark reviewed gene: CLCN4
Early onset or syndromic epilepsy CCND2 Zornitza Stark reviewed gene: CCND2
Early onset or syndromic epilepsy CCDC88A Zornitza Stark reviewed gene: CCDC88A
Early onset or syndromic epilepsy CC2D2A Zornitza Stark reviewed gene: CC2D2A
Intellectual disability EDNRB Louise Daugherty commented on gene: EDNRB
Intellectual disability EIF4A3 Louise Daugherty classified EIF4A3 as Green List (high evidence)
Intellectual disability EIF4A3 Louise Daugherty commented on gene: EIF4A3
Intellectual disability EIF4A3 Louise Daugherty commented on gene: EIF4A3
Intellectual disability GBA Louise Daugherty edited their review of gene: GBA
Intellectual disability GSPT2 Louise Daugherty edited their review of gene: GSPT2
Intellectual disability HNRNPU Louise Daugherty commented on gene: HNRNPU
Intellectual disability HNRNPK Louise Daugherty classified HNRNPK as Green List (high evidence)
Intellectual disability HNRNPK Louise Daugherty edited their review of gene: HNRNPK
Intellectual disability DPF2 Louise Daugherty classified DPF2 as Green List (high evidence)
Intellectual disability DPF2 Louise Daugherty commented on gene: DPF2
Intellectual disability DPF2 Louise Daugherty reviewed gene: DPF2
Neonatal cholestasis PEX13 Ellen McDonagh classified PEX13 as Green List (high evidence)
Neonatal cholestasis PEX10 Ellen McDonagh classified PEX10 as Green List (high evidence)
Intellectual disability IGF1R Louise Daugherty edited their review of gene: IGF1R
Intellectual disability IGF1R Louise Daugherty edited their review of gene: IGF1R
Intellectual disability IGF1R Louise Daugherty commented on gene: IGF1R
Intellectual disability DPF2 Rachel Jones reviewed gene: DPF2
Intellectual disability NRXN2 Louise Daugherty edited their review of gene: NRXN2
Intellectual disability NRXN1 Louise Daugherty reviewed gene: NRXN1
Intellectual disability ATP1A3 Louise Daugherty classified ATP1A3 as Amber List (moderate evidence)
Intellectual disability APTX Louise Daugherty classified APTX as Red List (low evidence)
Intellectual disability ALS2 Louise Daugherty classified ALS2 as Red List (low evidence)
Intellectual disability ALS2 Louise Daugherty classified ALS2 as Red List (low evidence)
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty classified SMAD2 as Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty edited their review of gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Hyperthyroidism SLC16A2 Ellen McDonagh commented on gene: SLC16A2
Hyperthyroidism THRB Ellen McDonagh commented on gene: THRB
Hyperthyroidism THRA Ellen McDonagh commented on gene: THRA
Early onset or syndromic epilepsy CASK Zornitza Stark reviewed gene: CASK
Early onset or syndromic epilepsy CACNA2D2 Zornitza Stark reviewed gene: CACNA2D2
Early onset or syndromic epilepsy CACNA1H Zornitza Stark reviewed gene: CACNA1H
Early onset or syndromic epilepsy C12orf57 Zornitza Stark reviewed gene: C12orf57
Early onset or syndromic epilepsy BTD Zornitza Stark reviewed gene: BTD
Early onset or syndromic epilepsy BRAF Zornitza Stark reviewed gene: BRAF
Early onset or syndromic epilepsy BOLA3 Zornitza Stark reviewed gene: BOLA3
Early onset or syndromic epilepsy BCS1L Zornitza Stark reviewed gene: BCS1L
Early onset or syndromic epilepsy BCKDHB Zornitza Stark reviewed gene: BCKDHB
Early onset or syndromic epilepsy BCKDHA Zornitza Stark reviewed gene: BCKDHA
Intellectual disability PCGF2 Louise Daugherty classified PCGF2 as Amber List (moderate evidence)
Intellectual disability PCGF2 Louise Daugherty commented on gene: PCGF2
Intellectual disability PRRT2 Louise Daugherty classified PRRT2 as Amber List (moderate evidence)
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Clefting TGFBR2 Anna de Burca Added gene to panel
Cytopenias and congenital anaemias ADA2 Louise Daugherty classified ADA2 as Red List (low evidence)
Cytopenias and congenital anaemias ADA2 Louise Daugherty commented on gene: ADA2
Cytopenias and congenital anaemias EPO Louise Daugherty classified EPO as Red List (low evidence)
Cytopenias and congenital anaemias EPO Louise Daugherty classified EPO as Red List (low evidence)
Hydrocephalus USP9X Sarah Leigh classified USP9X as Green List (high evidence)
Clefting USP9X Sarah Leigh classified USP9X as Green List (high evidence)
Clefting USP9X Sarah Leigh Added gene to panel
Hydrocephalus USP9X Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP7A Zornitza Stark reviewed gene: ATP7A
Early onset or syndromic epilepsy ATP1A2 Zornitza Stark reviewed gene: ATP1A2
Early onset or syndromic epilepsy ALG8 Zornitza Stark reviewed gene: ALG8
Early onset or syndromic epilepsy AKT1 Zornitza Stark reviewed gene: AKT1
Rare multisystem ciliopathy disorders WDR60 Zornitza Stark reviewed gene: WDR60
Rare multisystem ciliopathy disorders TXNDC15 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders TCTEX1D2 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders SUFU Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders SCLT1 Zornitza Stark reviewed gene: SCLT1
Rare multisystem ciliopathy disorders POC1B Zornitza Stark reviewed gene: POC1B
Rare multisystem ciliopathy disorders NEK8 Zornitza Stark reviewed gene: NEK8
Rare multisystem ciliopathy disorders LBR Zornitza Stark reviewed gene: LBR
Rare multisystem ciliopathy disorders KIAA0753 Zornitza Stark reviewed gene: KIAA0753
Early onset or syndromic epilepsy PEX12 Sarah Leigh marked gene: PEX12 as ready
Early onset or syndromic epilepsy PEX12 Sarah Leigh classified PEX12 as Green List (high evidence)
Early onset or syndromic epilepsy PEX12 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX12 Sarah Leigh classified PEX12 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations HOXD13 Eleanor Williams commented on gene: HOXD13
Non-syndromic familial congenital anorectal malformations PTEN Eleanor Williams commented on gene: PTEN
Non-syndromic familial congenital anorectal malformations MYH14 Eleanor Williams commented on gene: MYH14
Non-syndromic familial congenital anorectal malformations CDX1 Eleanor Williams commented on gene: CDX1
Non-syndromic familial congenital anorectal malformations DKK1 Eleanor Williams commented on gene: DKK1
Non-syndromic familial congenital anorectal malformations TP63 Eleanor Williams commented on gene: TP63
Non-syndromic familial congenital anorectal malformations T Eleanor Williams commented on gene: T
Non-syndromic familial congenital anorectal malformations EDNRB Eleanor Williams commented on gene: EDNRB
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams commented on gene: FANCB
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams commented on gene: ZIC3
Non-syndromic familial congenital anorectal malformations FOXF1 Eleanor Williams commented on gene: FOXF1
Non-syndromic familial congenital anorectal malformations HHIP Eleanor Williams commented on gene: HHIP
Non-syndromic familial congenital anorectal malformations WDPCP Eleanor Williams commented on gene: WDPCP
Non-syndromic familial congenital anorectal malformations TTLL9 Eleanor Williams commented on gene: TTLL9
Non-syndromic familial congenital anorectal malformations TNNI3K Eleanor Williams commented on gene: TNNI3K
Non-syndromic familial congenital anorectal malformations TLR1 Eleanor Williams commented on gene: TLR1
Non-syndromic familial congenital anorectal malformations TBC1D4 Eleanor Williams commented on gene: TBC1D4
Non-syndromic familial congenital anorectal malformations STIM1 Eleanor Williams commented on gene: STIM1
Non-syndromic familial congenital anorectal malformations SOX6 Eleanor Williams commented on gene: SOX6
Non-syndromic familial congenital anorectal malformations SOX4 Eleanor Williams commented on gene: SOX4
Non-syndromic familial congenital anorectal malformations SIL1 Eleanor Williams commented on gene: SIL1
Non-syndromic familial congenital anorectal malformations SGCD Eleanor Williams commented on gene: SGCD
Non-syndromic familial congenital anorectal malformations RCSD1 Eleanor Williams commented on gene: RCSD1
Non-syndromic familial congenital anorectal malformations PROK1 Eleanor Williams commented on gene: PROK1
Non-syndromic familial congenital anorectal malformations NLGN1 Eleanor Williams commented on gene: NLGN1
Non-syndromic familial congenital anorectal malformations MPRIP Eleanor Williams commented on gene: MPRIP
Non-syndromic familial congenital anorectal malformations LCA5 Eleanor Williams commented on gene: LCA5
Non-syndromic familial congenital anorectal malformations JAK2 Eleanor Williams commented on gene: JAK2
Non-syndromic familial congenital anorectal malformations INTU Eleanor Williams commented on gene: INTU
Non-syndromic familial congenital anorectal malformations FNBP1 Eleanor Williams commented on gene: FNBP1
Non-syndromic familial congenital anorectal malformations FAM110B Eleanor Williams commented on gene: FAM110B
Non-syndromic familial congenital anorectal malformations ECSIT Eleanor Williams commented on gene: ECSIT
Non-syndromic familial congenital anorectal malformations EAF1 Eleanor Williams commented on gene: EAF1
Non-syndromic familial congenital anorectal malformations DKK4 Eleanor Williams commented on gene: DKK4
Non-syndromic familial congenital anorectal malformations DESI2 Eleanor Williams commented on gene: DESI2
Non-syndromic familial congenital anorectal malformations CTNND2 Eleanor Williams commented on gene: CTNND2
Non-syndromic familial congenital anorectal malformations CDH18 Eleanor Williams commented on gene: CDH18
Non-syndromic familial congenital anorectal malformations AMOTL1 Eleanor Williams commented on gene: AMOTL1
Rare multisystem ciliopathy disorders IFT81 Zornitza Stark reviewed gene: IFT81
Rare multisystem ciliopathy disorders IFT52 Zornitza Stark reviewed gene: IFT52
Rare multisystem ciliopathy disorders IFT43 Zornitza Stark reviewed gene: IFT43
Rare multisystem ciliopathy disorders EXOC3L2 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders DDX59 Zornitza Stark reviewed gene: DDX59
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations WDPCP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TTLL9 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TNNI3K Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TLR1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TBC1D4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations T Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations STIM1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SOX6 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SOX4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SIL1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SGCD Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations RCSD1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations PTEN Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations PROK1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TP63 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations NLGN1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations MYH14 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations MPRIP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations LCA5 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations JAK2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations INTU Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations HOXD13 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations HHIP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FOXF1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FNBP1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FAM110B Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations EDNRB Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations ECSIT Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations EAF1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DKK4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DESI2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DKK1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CTNND2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CDX1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CDH18 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations AMOTL1 Eleanor Williams Added gene to panel
Rare multisystem ciliopathy disorders DCDC2 Zornitza Stark reviewed gene: DCDC2
Rare multisystem ciliopathy disorders CEP120 Zornitza Stark reviewed gene: CEP120
Rare multisystem ciliopathy disorders C21orf2 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders ARMC9 Zornitza Stark reviewed gene: ARMC9
Cytopenias and congenital anaemias EPO Mary Alikian Added gene to panel
Cytopenias and congenital anaemias ADA2 Mary Alikian Added gene to panel
Intellectual disability ATP1A3 Louise Daugherty reviewed gene: ATP1A3
Intellectual disability ATL1 Louise Daugherty classified ATL1 as Green List (high evidence)
Intellectual disability ATL1 Louise Daugherty classified ATL1 as Green List (high evidence)
Intellectual disability ASS1 Louise Daugherty classified ASS1 as Green List (high evidence)
Intellectual disability APTX Louise Daugherty reviewed gene: APTX
Intellectual disability ALS2 Louise Daugherty edited their review of gene: ALS2
Early onset or syndromic epilepsy TUBA3E Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSEN15 Sarah Leigh classified TSEN15 as Amber List (moderate evidence)
Early onset or syndromic epilepsy TSEN15 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SEC24D Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCDHB4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MATN4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NID1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy INO80 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DMBX1 Sarah Leigh Added gene to panel
Retinal disorders C21orf2 Louise Daugherty commented on gene: C21orf2
Thoracic dystrophies C21orf2 Louise Daugherty commented on gene: C21orf2
Skeletal dysplasia C21orf2 Louise Daugherty commented on gene: C21orf2
Intellectual disability GNAI1 Louise Daugherty classified GNAI1 as Green List (high evidence)
Choanal atresia USP9X Sarah Leigh classified USP9X as Green List (high evidence)
Early onset or syndromic epilepsy PTPN23 Sarah Leigh classified PTPN23 as Green List (high evidence)
Intellectual disability KCNQ5 Louise Daugherty classified KCNQ5 as Green List (high evidence)
Intellectual disability KCNQ5 Louise Daugherty reviewed gene: KCNQ5
Early onset or syndromic epilepsy PTPN23 Sarah Leigh marked gene: PTPN23 as ready
Early onset or syndromic epilepsy SCN3A Sarah Leigh marked gene: SCN3A as ready
Early onset or syndromic epilepsy SCN3A Sarah Leigh classified SCN3A as Green List (high evidence)
Early onset or syndromic epilepsy SCN3A Sarah Leigh Added gene to panel
Intellectual disability KCNQ3 Louise Daugherty classified KCNQ3 as Amber List (moderate evidence)
Intellectual disability MSL3 Louise Daugherty classified MSL3 as Amber List (moderate evidence)
Intellectual disability MSL3 Louise Daugherty commented on gene: MSL3
Intellectual disability MSL3 Louise Daugherty edited their review of gene: MSL3
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty reviewed gene: SMAD2
Intellectual disability GRIA2 Louise Daugherty classified GRIA2 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Anna de Burca Added gene to panel
Intellectual disability ORC4 Louise Daugherty commented on gene: ORC4
Intellectual disability ORC4 Louise Daugherty edited their review of gene: ORC4
Intellectual disability ORC6 Louise Daugherty commented on gene: ORC6
Intellectual disability ORC6 Louise Daugherty reviewed gene: ORC6
Intellectual disability PCGF2 Louise Daugherty classified PCGF2 as Green List (high evidence)
Intellectual disability PCGF2 Louise Daugherty commented on gene: PCGF2
Intellectual disability PCGF2 Louise Daugherty classified PCGF2 as Amber List (moderate evidence)
Intellectual disability PCGF2 Louise Daugherty reviewed gene: PCGF2
Intellectual disability PDGFRB Louise Daugherty classified PDGFRB as Green List (high evidence)
Intellectual disability PDGFRB Louise Daugherty edited their review of gene: PDGFRB
Intellectual disability PDGFRB Louise Daugherty edited their review of gene: PDGFRB
Intellectual disability PGM3 Louise Daugherty classified PGM3 as Green List (high evidence)
Intellectual disability NAA15 Louise Daugherty classified NAA15 as Green List (high evidence)
Intellectual disability NAA15 Louise Daugherty edited their review of gene: NAA15
Prostate cancer pertinent cancer susceptibility PMS2 Ellen McDonagh Added gene to panel
Prostate cancer pertinent cancer susceptibility MSH6 Ellen McDonagh Added gene to panel
Prostate cancer pertinent cancer susceptibility MSH2 Ellen McDonagh Added gene to panel
Prostate cancer pertinent cancer susceptibility MLH1 Ellen McDonagh Added gene to panel
Bladder cancer pertinent cancer susceptibility PMS2 Ellen McDonagh Added gene to panel
Bladder cancer pertinent cancer susceptibility MSH6 Ellen McDonagh Added gene to panel
Bladder cancer pertinent cancer susceptibility MSH2 Ellen McDonagh Added gene to panel
Renal cancer pertinent cancer susceptibility PMS2 Ellen McDonagh Added gene to panel
Renal cancer pertinent cancer susceptibility MSH6 Ellen McDonagh Added gene to panel
Renal cancer pertinent cancer susceptibility MSH2 Ellen McDonagh Added gene to panel
Renal cancer pertinent cancer susceptibility MLH1 Ellen McDonagh Added gene to panel
Haematological malignancies cancer susceptibility TERC Ellen McDonagh classified TERC as Green List (high evidence)
Haematological malignancies cancer susceptibility RMRP Ellen McDonagh classified RMRP as Green List (high evidence)
Intellectual disability SETD1B Louise Daugherty commented on gene: SETD1B
Intellectual disability SETD1B Louise Daugherty classified SETD1B as Amber List (moderate evidence)
Intellectual disability SETD1B Louise Daugherty commented on gene: SETD1B
Intellectual disability RBBP8 Louise Daugherty classified RBBP8 as Green List (high evidence)
Intellectual disability RBBP8 Louise Daugherty edited their review of gene: RBBP8
Intellectual disability RANBP2 Louise Daugherty classified RANBP2 as Red List (low evidence)
Intellectual disability RANBP2 Louise Daugherty edited their review of gene: RANBP2
Intellectual disability RANBP2 Louise Daugherty commented on gene: RANBP2
Neonatal cholestasis POLG Helen Brittain reviewed gene: POLG
Bladder cancer pertinent cancer susceptibility MLH1 Clare Turnbull Added gene to panel
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
Primary immunodeficiency or monogenic inflammatory bowel disease RMRP Louise Daugherty commented on gene: RMRP
Primary immunodeficiency or monogenic inflammatory bowel disease RMRP Louise Daugherty commented on gene: RMRP
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)
Gastrointestinal epithelial barrier disorders ZAP70 Olivia Niblock classified ZAP70 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders MEFV Olivia Niblock classified MEFV as Green List (high evidence)
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Gastrointestinal epithelial barrier disorders SLC37A4 Olivia Niblock classified SLC37A4 as Green List (high evidence)
Intellectual disability PRRT2 Louise Daugherty edited their review of gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty edited their review of gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty edited their review of gene: PRRT2
Intellectual disability PRRT2 Louise Daugherty edited their review of gene: PRRT2
Gastrointestinal epithelial barrier disorders STAT3 Olivia Niblock classified STAT3 as Green List (high evidence)
Intellectual disability PRRT2 Louise Daugherty commented on gene: PRRT2
Gastrointestinal epithelial barrier disorders RET Olivia Niblock classified RET as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders NOD2 Olivia Niblock classified NOD2 as Amber List (moderate evidence)
Intellectual disability PRRT2 Louise Daugherty reviewed gene: PRRT2
Intellectual disability PTPN23 Louise Daugherty classified PTPN23 as Green List (high evidence)
Intellectual disability PTPN23 Louise Daugherty commented on gene: PTPN23
Intellectual disability QRICH1 Louise Daugherty classified QRICH1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders DCLRE1C Olivia Niblock classified DCLRE1C as Green List (high evidence)
Gastrointestinal epithelial barrier disorders DOCK8 Olivia Niblock classified DOCK8 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders FOXP3 Olivia Niblock classified FOXP3 as Green List (high evidence)
Intellectual disability RANBP2 Louise Daugherty reviewed gene: RANBP2
Gastrointestinal epithelial barrier disorders HPS1 Olivia Niblock classified HPS1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders HPS6 Olivia Niblock classified HPS6 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders ICOS Olivia Niblock classified ICOS as Green List (high evidence)
Gastrointestinal epithelial barrier disorders IL2RA Olivia Niblock classified IL2RA as Green List (high evidence)
Gastrointestinal epithelial barrier disorders MVK Olivia Niblock classified MVK as Green List (high evidence)
Gastrointestinal epithelial barrier disorders OTULIN Olivia Niblock classified OTULIN as Green List (high evidence)
Gastrointestinal epithelial barrier disorders RAG2 Olivia Niblock classified RAG2 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders SH2D1A Olivia Niblock classified SH2D1A as Green List (high evidence)
Gastrointestinal epithelial barrier disorders STXBP2 Olivia Niblock classified STXBP2 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders TTC7A Olivia Niblock classified TTC7A as Green List (high evidence)
Gastrointestinal epithelial barrier disorders XIAP Olivia Niblock classified XIAP as Green List (high evidence)
Gastrointestinal epithelial barrier disorders SAMD9 Olivia Niblock classified SAMD9 as Green List (high evidence)
Intellectual disability RBBP8 Louise Daugherty classified RBBP8 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders WAS Olivia Niblock classified WAS as Green List (high evidence)
Gastrointestinal epithelial barrier disorders WAS Olivia Niblock classified WAS as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders RAG1 Olivia Niblock classified RAG1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders PLCG2 Olivia Niblock classified PLCG2 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders PIK3R1 Olivia Niblock classified PIK3R1 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders NCF1 Olivia Niblock classified NCF1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders IL2RG Olivia Niblock classified IL2RG as Green List (high evidence)
Gastrointestinal epithelial barrier disorders IL10 Olivia Niblock classified IL10 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders IL10 Olivia Niblock classified IL10 as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders IKBKG Olivia Niblock classified IKBKG as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders IKBKG Olivia Niblock classified IKBKG as Amber List (moderate evidence)
Intellectual disability RNF125 Louise Daugherty classified RNF125 as Green List (high evidence)
Intellectual disability RNF125 Louise Daugherty commented on gene: RNF125
Gastrointestinal epithelial barrier disorders HPS4 Olivia Niblock classified HPS4 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders GUCY2C Olivia Niblock classified GUCY2C as Green List (high evidence)
Gastrointestinal epithelial barrier disorders CYBB Olivia Niblock classified CYBB as Green List (high evidence)
Gastrointestinal epithelial barrier disorders CYBA Olivia Niblock classified CYBA as Green List (high evidence)
Intellectual disability SCN3A Louise Daugherty classified SCN3A as Green List (high evidence)
Intellectual disability SCN3A Louise Daugherty commented on gene: SCN3A
Gastrointestinal epithelial barrier disorders CD40LG Olivia Niblock classified CD40LG as Green List (high evidence)
Intellectual disability SDCCAG8 Louise Daugherty classified SDCCAG8 as Green List (high evidence)
Haematological malignancies cancer susceptibility FANCM Ellen McDonagh classified FANCM as Amber List (moderate evidence)
Haematological malignancies for rare disease FANCM Ellen McDonagh classified FANCM as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility FANCM Ellen McDonagh classified FANCM as Red List (low evidence)
Haematological malignancies for rare disease FANCM Ellen McDonagh classified FANCM as Red List (low evidence)
Gastrointestinal epithelial barrier disorders CTLA4 Olivia Niblock classified CTLA4 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders Olivia Niblock promoted panel to version 1.0
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
Gastrointestinal epithelial barrier disorders NCF4 Olivia Niblock marked gene: NCF4 as ready
Gastrointestinal epithelial barrier disorders NCF2 Olivia Niblock marked gene: NCF2 as ready
Gastrointestinal epithelial barrier disorders LRBA Olivia Niblock marked gene: LRBA as ready
Gastrointestinal epithelial barrier disorders EPCAM Olivia Niblock marked gene: EPCAM as ready
Gastrointestinal epithelial barrier disorders ADAM17 Olivia Niblock marked gene: ADAM17 as ready
Gastrointestinal epithelial barrier disorders ADA Olivia Niblock marked gene: ADA as ready
Gastrointestinal epithelial barrier disorders TTC37 Olivia Niblock marked gene: TTC37 as ready
Gastrointestinal epithelial barrier disorders SKIV2L Olivia Niblock marked gene: SKIV2L as ready
Gastrointestinal epithelial barrier disorders MYO5B Olivia Niblock marked gene: MYO5B as ready
Gastrointestinal epithelial barrier disorders IL10RB Olivia Niblock marked gene: IL10RB as ready
Neonatal cholestasis GNAS Louise Daugherty classified GNAS as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders IL10RA Olivia Niblock marked gene: IL10RA as ready
Neonatal cholestasis GNAS Louise Daugherty Added gene to panel
Gastrointestinal epithelial barrier disorders STAT1 Olivia Niblock classified STAT1 as Amber List (moderate evidence)
Neonatal cholestasis MYO5B Louise Daugherty classified MYO5B as Amber List (moderate evidence)
Neonatal cholestasis MYO5B Louise Daugherty Added gene to panel
Gastrointestinal epithelial barrier disorders SHANK3 Olivia Niblock classified SHANK3 as Red List (low evidence)
Gastrointestinal epithelial barrier disorders TGFBR2 Olivia Niblock classified TGFBR2 as Red List (low evidence)
Gastrointestinal epithelial barrier disorders TGFBR1 Olivia Niblock classified TGFBR1 as Red List (low evidence)
Neonatal cholestasis BCS1L Louise Daugherty classified BCS1L as Amber List (moderate evidence)
Neonatal cholestasis BCS1L Louise Daugherty Added gene to panel
Gastrointestinal epithelial barrier disorders RTEL1 Olivia Niblock classified RTEL1 as Green List (high evidence)
Gastrointestinal epithelial barrier disorders PTEN Olivia Niblock classified PTEN as Amber List (moderate evidence)
Gastrointestinal epithelial barrier disorders PIK3CD Olivia Niblock classified PIK3CD as Amber List (moderate evidence)
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)
Gastrointestinal epithelial barrier disorders MYO9B Olivia Niblock classified MYO9B as Red List (low 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)
Gastrointestinal epithelial barrier disorders LIG4 Olivia Niblock classified LIG4 as Amber List (moderate 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
Gastrointestinal epithelial barrier disorders ITGB2 Olivia Niblock classified ITGB2 as Amber List (moderate evidence)
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)
Gastrointestinal epithelial barrier disorders G6PC3 Olivia Niblock classified G6PC3 as Red List (low evidence)
Gastrointestinal epithelial barrier disorders FERMT1 Olivia Niblock classified FERMT1 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)
Gastrointestinal epithelial barrier disorders COL7A1 Olivia Niblock classified COL7A1 as Amber List (moderate 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)
Choanal atresia USP9X Zornitza Stark reviewed gene: USP9X
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)
Choanal atresia USP9X Katharina Steindl Added gene to panel
Intellectual disability ARV1 Louise Daugherty classified ARV1 as Green List (high evidence)
Intellectual disability ARV1 Louise Daugherty classified ARV1 as Green List (high evidence)
Intellectual disability ARV1 Louise Daugherty edited their review of gene: ARV1
Intellectual disability LYST Louise Daugherty edited their review of gene: LYST
Intellectual disability SETD1B Louise Daugherty edited their review of gene: SETD1B
Intellectual disability SETD1B Louise Daugherty classified SETD1B as Amber List (moderate evidence)
Intellectual disability SETD1B Louise Daugherty classified SETD1B as Amber List (moderate evidence)
Intellectual disability NLRP3 Louise Daugherty reviewed gene: NLRP3
Parkinson Disease and Complex Parkinsonism LYST Louise Daugherty classified LYST as Green List (high evidence)
Inherited white matter disorders ZFYVE26 Zornitza Stark Added gene to panel
Inherited white matter disorders VPS11 Zornitza Stark Added gene to panel
Inherited white matter disorders UNC13D Zornitza Stark Added gene to panel
Intellectual disability LYST Louise Daugherty commented on gene: LYST
Intellectual disability LYST Louise Daugherty edited their review of gene: LYST
Inherited white matter disorders TYROBP Zornitza Stark Added gene to panel
Inherited white matter disorders TUFM Zornitza Stark reviewed gene: TUFM
Intellectual disability ARV1 Louise Daugherty classified ARV1 as Amber List (moderate evidence)
Inherited white matter disorders TUBB2B Zornitza Stark reviewed gene: TUBB2B
Intellectual disability ARV1 Louise Daugherty reviewed gene: ARV1
Inherited white matter disorders TUBA8 Zornitza Stark reviewed gene: TUBA8
Inherited white matter disorders TREM2 Zornitza Stark reviewed gene: TREM2
Inherited white matter disorders TMEM106B Zornitza Stark Added gene to panel
Inherited white matter disorders SPG7 Zornitza Stark Added gene to panel
Intellectual disability SLC22A5 Louise Daugherty classified SLC22A5 as Red List (low evidence)
Intellectual disability SLC22A5 Louise Daugherty edited their review of gene: SLC22A5
Inherited white matter disorders SPG11 Zornitza Stark Added gene to panel
Inherited white matter disorders SPART Zornitza Stark Added gene to panel
Intellectual disability SLC25A20 Louise Daugherty classified SLC25A20 as Red List (low evidence)
Intellectual disability SLC25A20 Louise Daugherty edited their review of gene: SLC25A20
Early onset or syndromic epilepsy SRPX2 Sarah Leigh classified SRPX2 as Red List (low evidence)
Intellectual disability TCF20 Louise Daugherty commented on gene: TCF20
Inherited white matter disorders SNORD118 Zornitza Stark reviewed gene: SNORD118
Inherited white matter disorders SLC13A5 Zornitza Stark Added gene to panel
Inherited white matter disorders SDHA Zornitza Stark Added gene to panel
Inherited white matter disorders RAB11B Zornitza Stark Added gene to panel
Inherited white matter disorders PRF1 Zornitza Stark Added gene to panel
Inherited white matter disorders PPT1 Zornitza Stark Added gene to panel
Inherited white matter disorders POLR1A Zornitza Stark Added gene to panel
Inherited white matter disorders PHGDH Zornitza Stark Added gene to panel
Inherited white matter disorders OCRL Zornitza Stark Added gene to panel
Inherited white matter disorders NOTCH3 Zornitza Stark reviewed gene: NOTCH3
Inherited white matter disorders NDUFA2 Zornitza Stark Added gene to panel
Inherited white matter disorders NAXE Zornitza Stark Added gene to panel
Inherited white matter disorders MRPS16 Zornitza Stark reviewed gene: MRPS16
Inherited white matter disorders MFF Zornitza Stark reviewed gene: MFF
Inherited white matter disorders JAM3 Zornitza Stark reviewed gene: JAM3
Inherited white matter disorders ISCA2 Zornitza Stark reviewed gene: ISCA2
Inherited white matter disorders IBA57 Zornitza Stark Added gene to panel
Inherited white matter disorders HTRA1 Zornitza Stark reviewed gene: HTRA1
Inherited white matter disorders HSPD1 Zornitza Stark reviewed gene: HSPD1
Inherited white matter disorders HMBS Zornitza Stark Added gene to panel
Inherited white matter disorders HEXA Zornitza Stark Added gene to panel
Early onset or syndromic epilepsy GAL Sarah Leigh classified GAL as Red List (low evidence)
Early onset or syndromic epilepsy GAL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RELN Sarah Leigh commented on gene: RELN
Early onset or syndromic epilepsy RELN Sarah Leigh classified RELN as Green List (high evidence)
Intellectual disability THAP1 Louise Daugherty classified THAP1 as Red List (low evidence)
Early onset or syndromic epilepsy PSMB8 Sarah Leigh commented on gene: PSMB8
Intellectual disability THAP1 Louise Daugherty commented on gene: THAP1
Intellectual disability TIMM8A Louise Daugherty classified TIMM8A as Red List (low evidence)
Early onset or syndromic epilepsy PSMB8 Sarah Leigh Added gene to panel
Intellectual disability TIMM8A Louise Daugherty edited their review of gene: TIMM8A
Early onset or syndromic epilepsy LYST Sarah Leigh classified LYST as Green List (high evidence)
Intellectual disability LYST Sarah Leigh reviewed gene: LYST
Early onset or syndromic epilepsy LYST Sarah Leigh Added gene to panel
Inherited white matter disorders FA2H Zornitza Stark Added gene to panel
Intellectual disability ARV1 Sarah Leigh reviewed gene: ARV1
Early onset or syndromic epilepsy ARV1 Sarah Leigh classified ARV1 as Green List (high evidence)
Early onset or syndromic epilepsy TSC2 Sarah Leigh marked gene: TSC2 as ready
Early onset or syndromic epilepsy TSC2 Sarah Leigh classified TSC2 as Green List (high evidence)
Early onset or syndromic epilepsy TSC2 Sarah Leigh classified TSC2 as Green List (high evidence)
Inherited white matter disorders ERCC2 Zornitza Stark Added gene to panel
Inherited white matter disorders CYP7B1 Zornitza Stark Added gene to panel
Inherited white matter disorders COL4A1 Zornitza Stark Added gene to panel
Inherited white matter disorders CNTNAP1 Zornitza Stark Added gene to panel
Inherited white matter disorders BOLA3 Zornitza Stark Added gene to panel
Inherited white matter disorders ACBD5 Zornitza Stark Added gene to panel
Intellectual disability KCNQ3 Zornitza Stark reviewed gene: KCNQ3
Intellectual disability GNAI1 Zornitza Stark reviewed gene: GNAI1
Intellectual disability CNOT3 Zornitza Stark reviewed gene: CNOT3
Primary immunodeficiency or monogenic inflammatory bowel disease RIPK1 Zornitza Stark Added gene to panel
Rare multisystem ciliopathy disorders WDPCP Eleanor Williams commented on gene: WDPCP
Intellectual disability TRIM37 Louise Daugherty edited their review of gene: TRIM37
Intellectual disability TRIM37 Louise Daugherty classified TRIM37 as Red List (low evidence)
Intellectual disability VPS53 Louise Daugherty classified VPS53 as Green List (high evidence)
Intellectual disability SETD2 Louise Daugherty commented on gene: SETD2
Intellectual disability SETD2 Louise Daugherty classified SETD2 as Green List (high evidence)
Intellectual disability SETD2 Louise Daugherty commented on gene: SETD2
Intellectual disability SLC22A5 Louise Daugherty reviewed gene: SLC22A5
Intellectual disability SLC25A12 Louise Daugherty classified SLC25A12 as Amber List (moderate evidence)
Intellectual disability SLC25A20 Louise Daugherty reviewed gene: SLC25A20
Intellectual disability SLC35A1 Louise Daugherty edited their review of gene: SLC35A1
Intellectual disability SLC45A1 Louise Daugherty classified SLC45A1 as Amber List (moderate evidence)
Intellectual disability SPECC1L Louise Daugherty classified SPECC1L as Green List (high evidence)
Intellectual disability SPECC1L Louise Daugherty reviewed gene: SPECC1L
Intellectual disability SRPX2 Louise Daugherty classified SRPX2 as Red List (low evidence)
Intellectual disability SRPX2 Louise Daugherty edited their review of gene: SRPX2
Intellectual disability SSR4 Louise Daugherty classified SSR4 as Green List (high evidence)
Intellectual disability SSR4 Louise Daugherty commented on gene: SSR4
Intellectual disability SSR4 Louise Daugherty commented on gene: SSR4
Intellectual disability TAF6 Louise Daugherty classified TAF6 as Green List (high evidence)
Intellectual disability TBC1D23 Louise Daugherty classified TBC1D23 as Green List (high evidence)
Intellectual disability TBC1D23 Louise Daugherty commented on gene: TBC1D23
Intellectual disability TCF20 Louise Daugherty edited their review of gene: TCF20
Intellectual disability TCF20 Louise Daugherty commented on gene: TCF20
Intellectual disability TGDS Louise Daugherty classified TGDS as Red List (low evidence)
Intellectual disability TGDS Louise Daugherty classified TGDS as Red List (low evidence)
Intellectual disability TGDS Louise Daugherty edited their review of gene: TGDS
Intellectual disability THAP1 Louise Daugherty reviewed gene: THAP1
Intellectual disability TIMM8A Louise Daugherty reviewed gene: TIMM8A
Early onset or syndromic epilepsy CACNA1A Sarah Leigh classified CACNA1A as Green List (high evidence)
Early onset or syndromic epilepsy EIF2B5 Sarah Leigh classified EIF2B5 as Green List (high evidence)
Early onset or syndromic epilepsy EFHC1 Sarah Leigh classified EFHC1 as Green List (high evidence)
Intellectual disability TNIK Louise Daugherty classified TNIK as Amber List (moderate evidence)
Intellectual disability TRAPPC6B Louise Daugherty classified TRAPPC6B as Amber List (moderate evidence)
Intellectual disability TRAPPC6B Louise Daugherty commented on gene: TRAPPC6B
Intellectual disability TRAPPC6A Louise Daugherty classified TRAPPC6A as Red List (low evidence)
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh marked gene: ATP5A1 as ready
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh classified ATP5A1 as Amber List (moderate evidence)
Intellectual disability TRAPPC6A Louise Daugherty Added gene to panel
Early onset or syndromic epilepsy ASPA Sarah Leigh marked gene: ASPA as ready
Early onset or syndromic epilepsy ASPA Sarah Leigh classified ASPA as Green List (high evidence)
Early onset or syndromic epilepsy ARV1 Sarah Leigh edited their review of gene: ARV1
Early onset or syndromic epilepsy ARV1 Sarah Leigh classified ARV1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy ARID1B Sarah Leigh marked gene: ARID1B as ready
Early onset or syndromic epilepsy ARID1B Sarah Leigh classified ARID1B as Green List (high evidence)
Early onset or syndromic epilepsy ARFGEF2 Sarah Leigh marked gene: ARFGEF2 as ready
Early onset or syndromic epilepsy ARFGEF2 Sarah Leigh classified ARFGEF2 as Green List (high evidence)
Early onset or syndromic epilepsy AP3B2 Sarah Leigh marked gene: AP3B2 as ready
Early onset or syndromic epilepsy AP3B2 Sarah Leigh classified AP3B2 as Green List (high evidence)
Early onset or syndromic epilepsy AMT Sarah Leigh marked gene: AMT as ready
Early onset or syndromic epilepsy AMT Sarah Leigh classified AMT as Green List (high evidence)
Early onset or syndromic epilepsy ALPL Sarah Leigh marked gene: ALPL as ready
Early onset or syndromic epilepsy AMPD2 Sarah Leigh classified AMPD2 as Green List (high evidence)
Early onset or syndromic epilepsy ALPL Sarah Leigh classified ALPL as Green List (high evidence)
Early onset or syndromic epilepsy ALG9 Sarah Leigh marked gene: ALG9 as ready
Early onset or syndromic epilepsy ALG9 Sarah Leigh classified ALG9 as Green List (high evidence)
Early onset or syndromic epilepsy ALG6 Sarah Leigh marked gene: ALG6 as ready
Early onset or syndromic epilepsy ALG6 Sarah Leigh classified ALG6 as Green List (high evidence)
Early onset or syndromic epilepsy ALG3 Sarah Leigh marked gene: ALG3 as ready
Early onset or syndromic epilepsy ALG3 Sarah Leigh classified ALG3 as Green List (high evidence)
Early onset or syndromic epilepsy ALG2 Sarah Leigh classified ALG2 as Red List (low evidence)
Early onset or syndromic epilepsy ALG12 Sarah Leigh marked gene: ALG12 as ready
Early onset or syndromic epilepsy ALG12 Sarah Leigh classified ALG12 as Red List (low evidence)
Early onset or syndromic epilepsy ALG1 Sarah Leigh marked gene: ALG1 as ready
Early onset or syndromic epilepsy ALG1 Sarah Leigh classified ALG1 as Green List (high evidence)
Early onset or syndromic epilepsy ALDH5A1 Sarah Leigh marked gene: ALDH5A1 as ready
Early onset or syndromic epilepsy ALDH5A1 Sarah Leigh classified ALDH5A1 as Green List (high evidence)
Early onset or syndromic epilepsy AKT3 Sarah Leigh marked gene: AKT3 as ready
Early onset or syndromic epilepsy AKT3 Sarah Leigh classified AKT3 as Green List (high evidence)
Early onset or syndromic epilepsy AKT3 Sarah Leigh classified AKT3 as Green List (high evidence)
Intellectual disability TRIM37 Louise Daugherty classified TRIM37 as Amber List (moderate evidence)
Early onset or syndromic epilepsy AIMP1 Sarah Leigh marked gene: AIMP1 as ready
Early onset or syndromic epilepsy AIMP1 Sarah Leigh classified AIMP1 as Green List (high evidence)
Early onset or syndromic epilepsy ADGRG1 Sarah Leigh classified ADGRG1 as Green List (high evidence)
Early onset or syndromic epilepsy ADAR Sarah Leigh marked gene: ADAR as ready
Early onset or syndromic epilepsy ADAR Sarah Leigh classified ADAR as Green List (high evidence)
Intellectual disability TRIM37 Louise Daugherty reviewed gene: TRIM37
Early onset or syndromic epilepsy ACOX1 Sarah Leigh marked gene: ACOX1 as ready
Early onset or syndromic epilepsy ACOX1 Sarah Leigh classified ACOX1 as Green List (high evidence)
Early onset or syndromic epilepsy ABAT Sarah Leigh marked gene: ABAT as ready
Early onset or syndromic epilepsy ABAT Sarah Leigh classified ABAT as Green List (high evidence)
Early onset or syndromic epilepsy AARS2 Sarah Leigh marked gene: AARS2 as ready
Early onset or syndromic epilepsy AARS2 Sarah Leigh classified AARS2 as Red List (low evidence)
Early onset or syndromic epilepsy ALG8 Sarah Leigh marked gene: ALG8 as ready
Early onset or syndromic epilepsy ALG8 Sarah Leigh classified ALG8 as Red List (low evidence)
Intellectual disability UNC13A Louise Daugherty classified UNC13A as Red List (low evidence)
Intellectual disability VPS53 Louise Daugherty classified VPS53 as Amber List (moderate evidence)
Intellectual disability VPS53 Louise Daugherty commented on gene: VPS53
Intellectual disability VPS53 Louise Daugherty commented on gene: VPS53
Intellectual disability WDFY3 Louise Daugherty classified WDFY3 as Red List (low evidence)
Intellectual disability WDR26 Louise Daugherty classified WDR26 as Green List (high evidence)
Intellectual disability ZBTB24 Louise Daugherty classified ZBTB24 as Green List (high evidence)
Intellectual disability CACNA1G Louise Daugherty reviewed gene: CACNA1G
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty edited their review of gene: CEBPE
Nephrocalcinosis or nephrolithiasis STRADA Louise Daugherty classified STRADA as Green List (high evidence)
Nephrocalcinosis or nephrolithiasis STRADA Louise Daugherty Added gene to panel
Hydrocephalus STRADA Louise Daugherty classified STRADA as Green List (high evidence)
Hydrocephalus STRADA Louise Daugherty Added gene to panel
Intellectual disability STRADA Louise Daugherty classified STRADA as Green List (high evidence)
Intellectual disability STRADA Louise Daugherty commented on gene: STRADA
Intellectual disability RTN4IP1 Louise Daugherty classified RTN4IP1 as Green List (high evidence)
Intellectual disability SLC35A1 Louise Daugherty commented on gene: SLC35A1
Intellectual disability SLC35A1 Louise Daugherty classified SLC35A1 as Amber List (moderate evidence)
Familial Tumours Syndromes of the central & peripheral Nervous system PTEN Louise Daugherty classified PTEN as Green List (high evidence)
Familial Tumours Syndromes of the central & peripheral Nervous system PTEN Louise Daugherty Added gene to panel
Hereditary spastic paraplegia POLR3A Louise Daugherty classified POLR3A as Green List (high evidence)
Hereditary spastic paraplegia POLR3A Louise Daugherty Added gene to panel
Early onset or syndromic epilepsy WASF1 Sarah Leigh commented on gene: WASF1
Intellectual disability WDR4 Louise Daugherty classified WDR4 as Amber List (moderate evidence)
Severe microcephaly WDR4 Louise Daugherty classified WDR4 as Amber List (moderate evidence)
Early onset or syndromic epilepsy WASF1 Sarah Leigh classified WASF1 as Green List (high evidence)
Early onset or syndromic epilepsy WASF1 Sarah Leigh Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B
Intellectual disability CTGF Louise Daugherty commented on gene: CTGF
Intellectual disability CTGF Louise Daugherty Added gene to panel
Intellectual disability STX3 Louise Daugherty commented on gene: STX3
Intellectual disability STX3 Louise Daugherty Added gene to panel
Intellectual disability TSPAN8 Louise Daugherty commented on gene: TSPAN8
Intellectual disability TSPAN8 Louise Daugherty Added gene to panel
Intellectual disability ELK1 Louise Daugherty commented on gene: ELK1
Intellectual disability MACC1 Louise Daugherty commented on gene: MACC1
Intellectual disability MACC1 Louise Daugherty Added gene to panel
Intellectual disability GRIA2 Louise Daugherty classified GRIA2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty edited their review of gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty classified NCF4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Zornitza Stark reviewed gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Zornitza Stark reviewed gene: FCGR3A
Primary immunodeficiency or monogenic inflammatory bowel disease Louise Daugherty promoted panel to version 1.0
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5B Louise Daugherty marked gene: STAT5B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5B Louise Daugherty commented on gene: STAT5B
Primary immunodeficiency or monogenic inflammatory bowel disease FPR1 Louise Daugherty marked gene: FPR1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FPR1 Louise Daugherty commented on gene: FPR1
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Louise Daugherty marked gene: FCGR3A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Louise Daugherty commented on gene: FCGR3A
Primary immunodeficiency or monogenic inflammatory bowel disease NOP10 Louise Daugherty marked gene: NOP10 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NOP10 Louise Daugherty commented on gene: NOP10
Primary immunodeficiency or monogenic inflammatory bowel disease CFB Louise Daugherty marked gene: CFB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFB Louise Daugherty commented on gene: CFB
Primary immunodeficiency or monogenic inflammatory bowel disease LAT Louise Daugherty edited their review of gene: LAT
Primary immunodeficiency or monogenic inflammatory bowel disease LAT Louise Daugherty classified LAT as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RAC2 Louise Daugherty marked gene: RAC2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RAC2 Louise Daugherty commented on gene: RAC2
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency or monogenic inflammatory bowel disease STIM1 Louise Daugherty commented on gene: STIM1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty commented on gene: ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty marked gene: TRAC as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty marked gene: CEBPE as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty classified CEBPE as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Zornitza Stark reviewed gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CD247 Zornitza Stark reviewed gene: CD247
Primary immunodeficiency or monogenic inflammatory bowel disease SEMA3E Louise Daugherty edited their review of gene: SEMA3E
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3B Louise Daugherty classified FCGR3B as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3B Louise Daugherty classified FCGR3B as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TERC Louise Daugherty commented on gene: TERC
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty marked gene: TBX1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty marked gene: CR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty marked gene: MBL2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on gene: MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Louise Daugherty commented on gene: MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty marked gene: NCSTN as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Louise Daugherty marked gene: CFTR as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Louise Daugherty edited their review of gene: CFTR
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty marked gene: NCF4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty classified SH3BP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty classified SH3BP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty edited their review of gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty marked gene: DNASE1L3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty classified DNASE1L3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ICOS Louise Daugherty marked gene: ICOS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty marked gene: NSMCE3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty classified NSMCE3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty classified NSMCE3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty marked gene: PEPD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty classified PEPD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NRAS Louise Daugherty marked gene: NRAS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Louise Daugherty marked gene: PSENEN as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Louise Daugherty commented on gene: PSENEN
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Louise Daugherty marked gene: PSEN1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Louise Daugherty commented on gene: PSEN1
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Louise Daugherty marked gene: POLE2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Louise Daugherty marked gene: POLA1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PLEKHM1 Louise Daugherty marked gene: PLEKHM1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease OSTM1 Louise Daugherty marked gene: OSTM1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty marked gene: NLRP1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty classified NCSTN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NBAS Louise Daugherty marked gene: NBAS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty marked gene: MKL1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty marked gene: KMT2D as ready
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty marked gene: KDM6A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease JAK1 Louise Daugherty marked gene: JAK1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty marked gene: IRF2BP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK1 Louise Daugherty marked gene: IRAK1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IFNAR2 Louise Daugherty marked gene: IFNAR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty marked gene: HYOU1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HPS6 Louise Daugherty marked gene: HPS6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty marked gene: HPS4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HPS1 Louise Daugherty marked gene: HPS1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty marked gene: HMOX1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty marked gene: GUCY2C as ready
Primary immunodeficiency or monogenic inflammatory bowel disease STN1 Louise Daugherty commented on gene: STN1
Primary immunodeficiency or monogenic inflammatory bowel disease SRP54 Louise Daugherty commented on gene: SRP54
Primary immunodeficiency or monogenic inflammatory bowel disease SNX10 Louise Daugherty commented on gene: SNX10
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCD2 Louise Daugherty commented on gene: SMARCD2
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9L Louise Daugherty commented on gene: SAMD9L
Primary immunodeficiency or monogenic inflammatory bowel disease RNU4ATAC Louise Daugherty commented on gene: RNU4ATAC
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Louise Daugherty commented on gene: RASGRP1
Primary immunodeficiency or monogenic inflammatory bowel disease RANBP2 Louise Daugherty commented on gene: RANBP2
Primary immunodeficiency or monogenic inflammatory bowel disease PTEN Louise Daugherty commented on gene: PTEN
Primary immunodeficiency or monogenic inflammatory bowel disease PLEKHM1 Louise Daugherty commented on gene: PLEKHM1
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty commented on gene: PEPD
Primary immunodeficiency or monogenic inflammatory bowel disease OSTM1 Louise Daugherty commented on gene: OSTM1
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty commented on gene: NSMCE3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty commented on gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency or monogenic inflammatory bowel disease NBAS Louise Daugherty commented on gene: NBAS
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty commented on gene: KMT2D
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty commented on gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty commented on gene: IRF2BP2
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK1 Louise Daugherty commented on gene: IRAK1
Primary immunodeficiency or monogenic inflammatory bowel disease IFNAR2 Louise Daugherty commented on gene: IFNAR2
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty commented on gene: HYOU1
Primary immunodeficiency or monogenic inflammatory bowel disease TCIRG1 Louise Daugherty commented on gene: TCIRG1
Primary immunodeficiency or monogenic inflammatory bowel disease TFRC Louise Daugherty commented on gene: TFRC
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF11A Louise Daugherty commented on gene: TNFRSF11A
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF11 Louise Daugherty commented on gene: TNFSF11
Primary immunodeficiency or monogenic inflammatory bowel disease USP18 Louise Daugherty commented on gene: USP18
Primary immunodeficiency or monogenic inflammatory bowel disease WDR1 Louise Daugherty commented on gene: WDR1
Primary immunodeficiency or monogenic inflammatory bowel disease WRAP53 Louise Daugherty commented on gene: WRAP53
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty commented on gene: HMOX1
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty edited their review of gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty commented on gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Louise Daugherty commented on gene: CFTR
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty commented on gene: CLCN7
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty commented on gene: CSF2RB
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Louise Daugherty reviewed gene: IRF3
Primary immunodeficiency or monogenic inflammatory bowel disease FAAP24 Louise Daugherty marked gene: FAAP24 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FAAP24 Louise Daugherty commented on gene: FAAP24
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty marked gene: ERCC6L2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty classified ERCC6L2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty classified ERCC6L2 as Amber List (moderate evidence)
Cytopenias and congenital anaemias ERCC6L2 Louise Daugherty classified ERCC6L2 as Green List (high evidence)
Cytopenias and congenital anaemias ERCC6L2 Louise Daugherty reviewed gene: ERCC6L2
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty commented on gene: ERCC6L2
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Helen Brittain classified CFTR as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Helen Brittain reviewed gene: CFTR
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty marked gene: DNASE2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty commented on gene: DNASE2
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty classified DNASE1L3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty marked gene: SAMD9 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty classified SAMD9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty commented on gene: SAMD9
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Louise Daugherty marked gene: DNAJC21 as ready
Cytopenias and congenital anaemias DNAJC21 Louise Daugherty classified DNAJC21 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Louise Daugherty classified DNAJC21 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Louise Daugherty commented on gene: DNAJC21
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Louise Daugherty marked gene: IRF3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CTC1 Louise Daugherty marked gene: CTC1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CTC1 Louise Daugherty commented on gene: CTC1
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Louise Daugherty classified IRF3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty marked gene: CSF2RB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty classified CSF2RB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty marked gene: CLCN7 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty marked gene: ATP6AP1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty classified ATP6AP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty edited their review of gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty commented on gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease BCL11B Louise Daugherty marked gene: BCL11B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease BCL11B Louise Daugherty commented on gene: BCL11B
Primary immunodeficiency or monogenic inflammatory bowel disease BACH2 Louise Daugherty marked gene: BACH2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease BACH2 Louise Daugherty classified BACH2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty marked gene: UNC93B1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TYK2 Louise Daugherty marked gene: TYK2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty marked gene: WIPF1 as ready
Cytopenias and congenital anaemias WIPF1 Louise Daugherty classified WIPF1 as Green List (high evidence)
Cytopenias and congenital anaemias WIPF1 Louise Daugherty commented on gene: WIPF1
Cytopenias and congenital anaemias WIPF1 Louise Daugherty edited their review of gene: WIPF1
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty commented on gene: WIPF1
Proteinuric renal disease OSGEP Helen Brittain marked gene: OSGEP as ready
Proteinuric renal disease OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Proteinuric renal disease OSGEP Helen Brittain Added gene to panel
Malformations of cortical development OSGEP Helen Brittain marked gene: OSGEP as ready
Malformations of cortical development OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Malformations of cortical development OSGEP Helen Brittain Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty classified WIPF1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty edited their review of gene: WIPF1
Intellectual disability OSGEP Helen Brittain marked gene: OSGEP as ready
Intellectual disability OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability OSGEP Helen Brittain Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease UNC119 Louise Daugherty marked gene: UNC119 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease UNC119 Louise Daugherty classified UNC119 as Red List (low evidence)
Hereditary neuropathy MME Helen Brittain marked gene: MME as ready
Hereditary neuropathy MME Helen Brittain classified MME as Green List (high evidence)
Intellectual disability ITCH Louise Daugherty classified ITCH as No list
Early onset or syndromic epilepsy ATP5A1 Arianna Tucci reviewed gene: ATP5A1
Early onset or syndromic epilepsy ASPA Arianna Tucci reviewed gene: ASPA
Early onset or syndromic epilepsy ARV1 Arianna Tucci reviewed gene: ARV1
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Eleanor Williams classified PSENEN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13B Eleanor Williams classified TNFRSF13B as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Eleanor Williams classified POLA1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Eleanor Williams commented on gene: POLA1
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Eleanor Williams commented on gene: POLE2
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Eleanor Williams commented on gene: PSEN1
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Eleanor Williams commented on gene: PSENEN
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Eleanor Williams commented on gene: PSENEN
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty marked gene: TRAF3IP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty classified TRAF3IP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty marked gene: TRAF3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty classified TRAF3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty commented on gene: ACD
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF12 Louise Daugherty marked gene: TNFSF12 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF12 Louise Daugherty classified TNFSF12 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF4 Louise Daugherty marked gene: TNFRSF4 as ready
Early onset or syndromic epilepsy ARID1B Arianna Tucci reviewed gene: ARID1B
Early onset or syndromic epilepsy ARFGEF2 Arianna Tucci reviewed gene: ARFGEF2
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF4 Louise Daugherty classified TNFRSF4 as Red List (low evidence)
Early onset or syndromic epilepsy AP3B2 Arianna Tucci reviewed gene: AP3B2
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13C Louise Daugherty marked gene: TNFRSF13C as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13C Louise Daugherty commented on gene: TNFRSF13C
Early onset or syndromic epilepsy AMT Arianna Tucci reviewed gene: AMT
Early onset or syndromic epilepsy AMPD2 Arianna Tucci reviewed gene: AMPD2
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty marked gene: TMEM173 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty classified TMEM173 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty edited their review of gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty edited their review of gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty marked gene: TINF2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty commented on gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty edited their review of gene: THBD
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty marked gene: THBD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty classified THBD as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty commented on gene: THBD
Atypical haemolytic uraemic syndrome THBD Louise Daugherty reviewed gene: THBD
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty marked gene: TERT as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TERC Louise Daugherty marked gene: TERC as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TERC Louise Daugherty commented on gene: TERC
Primary immunodeficiency or monogenic inflammatory bowel disease TCF7L1 Louise Daugherty edited their review of gene: TCF7L1
Primary immunodeficiency or monogenic inflammatory bowel disease TCF7L1 Louise Daugherty classified TCF7L1 as No list
Primary immunodeficiency or monogenic inflammatory bowel disease TCF7L1 Louise Daugherty commented on gene: TCF7L1
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty marked gene: RNF31 as ready
Early onset or syndromic epilepsy ALPL Arianna Tucci reviewed gene: ALPL
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty marked gene: TAPBP as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty commented on gene: TAPBP
Early onset or syndromic epilepsy ALG9 Arianna Tucci reviewed gene: ALG9
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5A Louise Daugherty marked gene: STAT5A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5A Louise Daugherty classified STAT5A as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5A Louise Daugherty edited their review of gene: STAT5A
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty marked gene: SH3BP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty classified RNF31 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty commented on gene: RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RHOH Louise Daugherty marked gene: RHOH as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RHOH Louise Daugherty commented on gene: RHOH
Primary immunodeficiency or monogenic inflammatory bowel disease RET Louise Daugherty marked gene: RET as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RET Louise Daugherty classified RET as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty edited their review of gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty marked gene: RBCK1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty classified RBCK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty commented on gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB9 Louise Daugherty marked gene: PSMB9 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty marked gene: PSMB4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB9 Louise Daugherty classified PSMB9 as Red List (low evidence)
Hereditary ataxia VPS13D Arianna Tucci classified VPS13D as Green List (high evidence)
Hereditary ataxia VPS13D Arianna Tucci Added gene to panel
Arthrogryposis SMPD4 Arianna Tucci Added gene to panel
Intellectual disability SMPD4 Arianna Tucci Added gene to panel
Intellectual disability SMPD4 Arianna Tucci Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty classified PSMB4 as Red List (low evidence)
Cerebellar hypoplasia SMPD4 Arianna Tucci Added gene to panel
Hereditary spastic paraplegia CAPN1 Arianna Tucci marked gene: CAPN1 as ready
Hereditary spastic paraplegia CAPN1 Arianna Tucci classified CAPN1 as Green List (high evidence)
Hereditary spastic paraplegia CAPN1 Arianna Tucci edited their review of gene: CAPN1
Hereditary spastic paraplegia CAPN1 Arianna Tucci Added gene to panel
Early onset or syndromic epilepsy ALG9 Arianna Tucci reviewed gene: ALG9
Intellectual disability WASF1 Louise Daugherty classified WASF1 as Green List (high evidence)
Intellectual disability WASF1 Louise Daugherty Added gene to panel
Early onset or syndromic epilepsy ALG8 Arianna Tucci reviewed gene: ALG8
Congenital disorders of glycosylation ALG3 Arianna Tucci reviewed gene: ALG3
Early onset or syndromic epilepsy ALG6 Arianna Tucci reviewed gene: ALG6
Early onset or syndromic epilepsy ALG3 Arianna Tucci reviewed gene: ALG3
Early onset or syndromic epilepsy ALG2 Arianna Tucci reviewed gene: ALG2
Early onset or syndromic epilepsy ALG12 Arianna Tucci reviewed gene: ALG12
Early onset or syndromic epilepsy ALG1 Arianna Tucci reviewed gene: ALG1
Early onset or syndromic epilepsy ALDH5A1 Arianna Tucci reviewed gene: ALDH5A1
Early onset or syndromic epilepsy AKT3 Arianna Tucci reviewed gene: AKT3
Early onset or syndromic epilepsy AKT1 Arianna Tucci reviewed gene: AKT1
Early onset or syndromic epilepsy AIMP1 Arianna Tucci reviewed gene: AIMP1
Primary immunodeficiency or monogenic inflammatory bowel disease PSMA3 Louise Daugherty marked gene: PSMA3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PSMA3 Louise Daugherty classified PSMA3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty marked gene: POLE as ready
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty commented on gene: POLE
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty marked gene: PMS2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty commented on gene: PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease LAMTOR2 Louise Daugherty marked gene: LAMTOR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NOP10 Louise Daugherty commented on gene: NOP10
Primary immunodeficiency or monogenic inflammatory bowel disease NHP2 Louise Daugherty marked gene: NHP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NHP2 Louise Daugherty edited their review of gene: NHP2
Primary immunodeficiency or monogenic inflammatory bowel disease NHP2 Louise Daugherty classified NHP2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NFKBID Louise Daugherty marked gene: NFKBID as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NFKBID Louise Daugherty classified NFKBID as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NFAT5 Louise Daugherty marked gene: NFAT5 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NFAT5 Louise Daugherty classified NFAT5 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease MS4A1 Louise Daugherty marked gene: MS4A1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MS4A1 Louise Daugherty classified MS4A1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MRE11 Louise Daugherty marked gene: MRE11 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MRE11 Louise Daugherty classified MRE11 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MPO Louise Daugherty marked gene: MPO as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MPO Louise Daugherty classified MPO as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MPI Louise Daugherty marked gene: MPI as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MPI Louise Daugherty classified MPI as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty marked gene: MASP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty classified MASP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty edited their review of gene: TRAC
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty marked gene: LIG1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty edited their review of gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty classified LIG1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IFIH1 Louise Daugherty marked gene: IFIH1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IFIH1 Louise Daugherty edited their review of gene: IFIH1
Primary immunodeficiency or monogenic inflammatory bowel disease IFIH1 Louise Daugherty classified IFIH1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IFIH1 Louise Daugherty commented on gene: IFIH1
Primary immunodeficiency or monogenic inflammatory bowel disease ICOSLG Louise Daugherty classified ICOSLG as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease GTF2H5 Louise Daugherty marked gene: GTF2H5 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease GTF2H5 Louise Daugherty classified GTF2H5 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease FCN3 Louise Daugherty marked gene: FCN3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FCN3 Louise Daugherty classified FCN3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Louise Daugherty commented on gene: FCGR3A
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty classified TRAC as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty classified TRAC as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty edited their review of gene: TRAC
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Eleanor Williams commented on gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease FBF1 Louise Daugherty marked gene: FBF1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FBF1 Louise Daugherty classified FBF1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13B Eleanor Williams commented on gene: TNFRSF13B
Primary immunodeficiency or monogenic inflammatory bowel disease FAT4 Louise Daugherty marked gene: FAT4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FAT4 Louise Daugherty classified FAT4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13B Eleanor Williams commented on gene: TNFRSF13B
Primary immunodeficiency or monogenic inflammatory bowel disease FAT4 Louise Daugherty commented on gene: FAT4
Primary immunodeficiency or monogenic inflammatory bowel disease F12 Louise Daugherty marked gene: F12 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease F12 Louise Daugherty edited their review of gene: F12
Primary immunodeficiency or monogenic inflammatory bowel disease F12 Louise Daugherty commented on gene: F12
Primary immunodeficiency or monogenic inflammatory bowel disease F12 Louise Daugherty classified F12 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease F12 Louise Daugherty commented on gene: F12
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty marked gene: ERCC3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty classified ERCC3 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC2 Louise Daugherty marked gene: ERCC2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC2 Louise Daugherty classified ERCC2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC2 Louise Daugherty commented on gene: ERCC2
Primary immunodeficiency or monogenic inflammatory bowel disease EPCAM Louise Daugherty marked gene: EPCAM as ready
Primary immunodeficiency or monogenic inflammatory bowel disease EPCAM Louise Daugherty classified EPCAM as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DKC1 Louise Daugherty marked gene: DKC1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DKC1 Louise Daugherty classified DKC1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DKC1 Louise Daugherty edited their review of gene: DKC1
Primary immunodeficiency or monogenic inflammatory bowel disease CTSC Louise Daugherty marked gene: CTSC as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CTSC Louise Daugherty classified CTSC as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CTSC Louise Daugherty edited their review of gene: CTSC
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty commented on gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty commented on gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty commented on gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFB Louise Daugherty classified CFB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty marked gene: AP1S3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty commented on gene: AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease ITCH Louise Daugherty commented on gene: ITCH
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty marked gene: ORAI1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease STIM1 Louise Daugherty marked gene: STIM1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease LAMTOR2 Louise Daugherty commented on gene: LAMTOR2
Primary immunodeficiency or monogenic inflammatory bowel disease IL17F Louise Daugherty classified IL17F as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL17F Louise Daugherty edited their review of gene: IL17F
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty commented on gene: TRAC
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty commented on gene: TRAC
Primary immunodeficiency or monogenic inflammatory bowel disease TPP2 Louise Daugherty commented on gene: TPP2
Primary immunodeficiency or monogenic inflammatory bowel disease ZAP70 Louise Daugherty commented on gene: ZAP70
Primary immunodeficiency or monogenic inflammatory bowel disease CD79B Louise Daugherty commented on gene: CD79B
Primary immunodeficiency or monogenic inflammatory bowel disease WAS Louise Daugherty commented on gene: WAS
Primary immunodeficiency or monogenic inflammatory bowel disease STAT3 Louise Daugherty commented on gene: STAT3
Primary immunodeficiency or monogenic inflammatory bowel disease STAT1 Louise Daugherty commented on gene: STAT1
Primary immunodeficiency or monogenic inflammatory bowel disease PIK3R1 Louise Daugherty commented on gene: PIK3R1
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP3 Louise Daugherty edited their review of gene: NLRP3
Primary immunodeficiency or monogenic inflammatory bowel disease JAK1 Louise Daugherty commented on gene: JAK1
Primary immunodeficiency or monogenic inflammatory bowel disease IRF8 Louise Daugherty commented on gene: IRF8
Primary immunodeficiency or monogenic inflammatory bowel disease IFIH1 Louise Daugherty commented on gene: IFIH1
Primary immunodeficiency or monogenic inflammatory bowel disease CYBB Louise Daugherty commented on gene: CYBB
Primary immunodeficiency or monogenic inflammatory bowel disease CFB Louise Daugherty commented on gene: CFB
Primary immunodeficiency or monogenic inflammatory bowel disease CARD11 Louise Daugherty commented on gene: CARD11
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty commented on gene: C3
Primary immunodeficiency or monogenic inflammatory bowel disease XIAP Louise Daugherty edited their review of gene: XIAP
Primary immunodeficiency or monogenic inflammatory bowel disease WRAP53 Louise Daugherty reviewed gene: WRAP53
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Louise Daugherty commented on gene: WIPF1
Primary immunodeficiency or monogenic inflammatory bowel disease WDR1 Louise Daugherty reviewed gene: WDR1
Primary immunodeficiency or monogenic inflammatory bowel disease VPS45 Louise Daugherty commented on gene: VPS45
Primary immunodeficiency or monogenic inflammatory bowel disease VPS13B Louise Daugherty commented on gene: VPS13B
Primary immunodeficiency or monogenic inflammatory bowel disease USP18 Louise Daugherty reviewed gene: USP18
Primary immunodeficiency or monogenic inflammatory bowel disease USB1 Louise Daugherty edited their review of gene: USB1
Primary immunodeficiency or monogenic inflammatory bowel disease UNG Louise Daugherty commented on gene: UNG
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Louise Daugherty edited their review of gene: UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease UNC13D Louise Daugherty commented on gene: UNC13D
Primary immunodeficiency or monogenic inflammatory bowel disease TYK2 Louise Daugherty edited their review of gene: TYK2
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty commented on gene: TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TTC37 Louise Daugherty commented on gene: TTC37
Primary immunodeficiency or monogenic inflammatory bowel disease TRNT1 Louise Daugherty commented on gene: TRNT1
Primary immunodeficiency or monogenic inflammatory bowel disease TREX1 Louise Daugherty commented on gene: TREX1
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Louise Daugherty commented on gene: TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Louise Daugherty commented on gene: TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty edited their review of gene: TRAC
Primary immunodeficiency or monogenic inflammatory bowel disease TPP2 Louise Daugherty edited their review of gene: TPP2
Primary immunodeficiency or monogenic inflammatory bowel disease TPP1 Louise Daugherty edited their review of gene: TPP1
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF12 Louise Daugherty commented on gene: TNFSF12
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF11 Louise Daugherty reviewed gene: TNFSF11
Primary immunodeficiency or monogenic inflammatory bowel disease FAS Louise Daugherty commented on gene: FAS
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF4 Louise Daugherty commented on gene: TNFRSF4
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF1A Louise Daugherty edited their review of gene: TNFRSF1A
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13C Louise Daugherty commented on gene: TNFRSF13C
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13B Louise Daugherty commented on gene: TNFRSF13B
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF11A Louise Daugherty reviewed gene: TNFRSF11A
Primary immunodeficiency or monogenic inflammatory bowel disease TNFAIP3 Louise Daugherty edited their review of gene: TNFAIP3
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty commented on gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMC8 Louise Daugherty edited their review of gene: TMC8
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty edited their review of gene: TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty edited their review of gene: TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease TIRAP Louise Daugherty commented on gene: TIRAP
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty commented on gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TICAM1 Louise Daugherty edited their review of gene: TICAM1
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Louise Daugherty commented on gene: THBD
Primary immunodeficiency or monogenic inflammatory bowel disease TFRC Louise Daugherty reviewed gene: TFRC
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty commented on gene: TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERC Louise Daugherty commented on gene: TERC
Primary immunodeficiency or monogenic inflammatory bowel disease TCN2 Louise Daugherty commented on gene: TCN2
Primary immunodeficiency or monogenic inflammatory bowel disease TCIRG1 Louise Daugherty reviewed gene: TCIRG1
Primary immunodeficiency or monogenic inflammatory bowel disease TCF3 Louise Daugherty edited their review of gene: TCF3
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty commented on gene: TBX1
Primary immunodeficiency or monogenic inflammatory bowel disease TBK1 Louise Daugherty edited their review of gene: TBK1
Primary immunodeficiency or monogenic inflammatory bowel disease TAZ Louise Daugherty commented on gene: TAZ
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Louise Daugherty commented on gene: TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease TAP2 Louise Daugherty edited their review of gene: TAP2
Primary immunodeficiency or monogenic inflammatory bowel disease TAP1 Louise Daugherty edited their review of gene: TAP1
Primary immunodeficiency or monogenic inflammatory bowel disease STXBP2 Louise Daugherty commented on gene: STXBP2
Primary immunodeficiency or monogenic inflammatory bowel disease STX11 Louise Daugherty commented on gene: STX11
Primary immunodeficiency or monogenic inflammatory bowel disease STN1 Louise Daugherty reviewed gene: STN1
Primary immunodeficiency or monogenic inflammatory bowel disease STK4 Louise Daugherty commented on gene: STK4
Primary immunodeficiency or monogenic inflammatory bowel disease STIM1 Louise Daugherty edited their review of gene: STIM1
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5B Louise Daugherty edited their review of gene: STAT5B
Primary immunodeficiency or monogenic inflammatory bowel disease STAT2 Louise Daugherty edited their review of gene: STAT2
Primary immunodeficiency or monogenic inflammatory bowel disease SRP54 Louise Daugherty reviewed gene: SRP54
Primary immunodeficiency or monogenic inflammatory bowel disease SPINK5 Louise Daugherty edited their review of gene: SPINK5
Primary immunodeficiency or monogenic inflammatory bowel disease SP110 Louise Daugherty edited their review of gene: SP110
Primary immunodeficiency or monogenic inflammatory bowel disease SNX10 Louise Daugherty reviewed gene: SNX10
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCD2 Louise Daugherty reviewed gene: SMARCD2
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty edited their review of gene: SMARCAL1
Primary immunodeficiency or monogenic inflammatory bowel disease SLC46A1 Louise Daugherty edited their review of gene: SLC46A1
Primary immunodeficiency or monogenic inflammatory bowel disease SLC35C1 Louise Daugherty edited their review of gene: SLC35C1
Primary immunodeficiency or monogenic inflammatory bowel disease SLC29A3 Louise Daugherty edited their review of gene: SLC29A3
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease SH2D1A Louise Daugherty edited their review of gene: SH2D1A
Primary immunodeficiency or monogenic inflammatory bowel disease SERPING1 Louise Daugherty edited their review of gene: SERPING1
Primary immunodeficiency or monogenic inflammatory bowel disease SEMA3E Louise Daugherty commented on gene: SEMA3E
Primary immunodeficiency or monogenic inflammatory bowel disease SBDS Louise Daugherty commented on gene: SBDS
Primary immunodeficiency or monogenic inflammatory bowel disease SAMHD1 Louise Daugherty edited their review of gene: SAMHD1
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9L Louise Daugherty reviewed gene: SAMD9L
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty reviewed gene: SAMD9
Primary immunodeficiency or monogenic inflammatory bowel disease RTEL1 Louise Daugherty edited their review of gene: RTEL1
Primary immunodeficiency or monogenic inflammatory bowel disease RPSA Louise Daugherty edited their review of gene: RPSA
Primary immunodeficiency or monogenic inflammatory bowel disease RORC Louise Daugherty edited their review of gene: RORC
Primary immunodeficiency or monogenic inflammatory bowel disease RNU4ATAC Louise Daugherty reviewed gene: RNU4ATAC
Primary immunodeficiency or monogenic inflammatory bowel disease RNF168 Louise Daugherty edited their review of gene: RNF168
Primary immunodeficiency or monogenic inflammatory bowel disease RNASEH2C Louise Daugherty edited their review of gene: RNASEH2C
Primary immunodeficiency or monogenic inflammatory bowel disease RNASEH2B Louise Daugherty edited their review of gene: RNASEH2B
Primary immunodeficiency or monogenic inflammatory bowel disease RNASEH2A Louise Daugherty edited their review of gene: RNASEH2A
Primary immunodeficiency or monogenic inflammatory bowel disease RMRP Louise Daugherty commented on gene: RMRP
Primary immunodeficiency or monogenic inflammatory bowel disease CARMIL2 Louise Daugherty edited their review of gene: CARMIL2
Primary immunodeficiency or monogenic inflammatory bowel disease RHOH Louise Daugherty commented on gene: RHOH
Primary immunodeficiency or monogenic inflammatory bowel disease RFXAP Louise Daugherty commented on gene: RFXAP
Primary immunodeficiency or monogenic inflammatory bowel disease RFXANK Louise Daugherty commented on gene: RFXANK
Primary immunodeficiency or monogenic inflammatory bowel disease RFX5 Louise Daugherty commented on gene: RFX5
Primary immunodeficiency or monogenic inflammatory bowel disease RELB Louise Daugherty edited their review of gene: RELB
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Louise Daugherty reviewed gene: RASGRP1
Primary immunodeficiency or monogenic inflammatory bowel disease RANBP2 Louise Daugherty reviewed gene: RANBP2
Primary immunodeficiency or monogenic inflammatory bowel disease RAG2 Louise Daugherty commented on gene: RAG2
Primary immunodeficiency or monogenic inflammatory bowel disease RAG1 Louise Daugherty commented on gene: RAG1
Primary immunodeficiency or monogenic inflammatory bowel disease RAC2 Louise Daugherty commented on gene: RAC2
Primary immunodeficiency or monogenic inflammatory bowel disease RAB27A Louise Daugherty edited their review of gene: RAB27A
Primary immunodeficiency or monogenic inflammatory bowel disease PTPRC Louise Daugherty commented on gene: PTPRC
Primary immunodeficiency or monogenic inflammatory bowel disease PTEN Louise Daugherty reviewed gene: PTEN
Primary immunodeficiency or monogenic inflammatory bowel disease PSTPIP1 Louise Daugherty edited their review of gene: PSTPIP1
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB8 Louise Daugherty edited their review of gene: PSMB8
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Louise Daugherty reviewed gene: PSENEN
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Louise Daugherty reviewed gene: PSEN1
Primary immunodeficiency or monogenic inflammatory bowel disease PRKDC Louise Daugherty commented on gene: PRKDC
Primary immunodeficiency or monogenic inflammatory bowel disease PRKCD Louise Daugherty edited their review of gene: PRKCD
Primary immunodeficiency or monogenic inflammatory bowel disease PRF1 Louise Daugherty commented on gene: PRF1
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Louise Daugherty reviewed gene: POLE2
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty commented on gene: POLE
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Louise Daugherty reviewed gene: POLA1
Primary immunodeficiency or monogenic inflammatory bowel disease PNP Louise Daugherty commented on gene: PNP
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Louise Daugherty commented on gene: PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease PLEKHM1 Louise Daugherty reviewed gene: PLEKHM1
Primary immunodeficiency or monogenic inflammatory bowel disease PLCG2 Louise Daugherty edited their review of gene: PLCG2
Primary immunodeficiency or monogenic inflammatory bowel disease PIK3CD Louise Daugherty commented on gene: PIK3CD
Primary immunodeficiency or monogenic inflammatory bowel disease PGM3 Louise Daugherty edited their review of gene: PGM3
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty reviewed gene: PEPD
Primary immunodeficiency or monogenic inflammatory bowel disease PARN Louise Daugherty edited their review of gene: PARN
Primary immunodeficiency or monogenic inflammatory bowel disease OTULIN Louise Daugherty reviewed gene: OTULIN
Primary immunodeficiency or monogenic inflammatory bowel disease OSTM1 Louise Daugherty reviewed gene: OSTM1
Primary immunodeficiency or monogenic inflammatory bowel disease ORAI1 Louise Daugherty edited their review of gene: ORAI1
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty reviewed gene: NSMCE3
Primary immunodeficiency or monogenic inflammatory bowel disease NOP10 Louise Daugherty commented on gene: NOP10
Primary immunodeficiency or monogenic inflammatory bowel disease NOD2 Louise Daugherty edited their review of gene: NOD2
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty edited their review of gene: NLRP12
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty reviewed gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease NLRC4 Louise Daugherty edited their review of gene: NLRC4
Primary immunodeficiency or monogenic inflammatory bowel disease NHP2 Louise Daugherty commented on gene: NHP2
Primary immunodeficiency or monogenic inflammatory bowel disease NHEJ1 Louise Daugherty commented on gene: NHEJ1
Primary immunodeficiency or monogenic inflammatory bowel disease NFKB2 Louise Daugherty edited their review of gene: NFKB2
Primary immunodeficiency or monogenic inflammatory bowel disease NFKB1 Louise Daugherty commented on gene: NFKB1
Primary immunodeficiency or monogenic inflammatory bowel disease NFAT5 Louise Daugherty commented on gene: NFAT5
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty edited their review of gene: IKBKG
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty reviewed gene: NCSTN
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease NCF2 Louise Daugherty edited their review of gene: NCF2
Primary immunodeficiency or monogenic inflammatory bowel disease NCF1 Louise Daugherty edited their review of gene: NCF1
Primary immunodeficiency or monogenic inflammatory bowel disease NBN Louise Daugherty edited their review of gene: NBN
Primary immunodeficiency or monogenic inflammatory bowel disease NBAS Louise Daugherty reviewed gene: NBAS
Primary immunodeficiency or monogenic inflammatory bowel disease MYSM1 Louise Daugherty edited their review of gene: MYSM1
Primary immunodeficiency or monogenic inflammatory bowel disease MYD88 Louise Daugherty edited their review of gene: MYD88
Primary immunodeficiency or monogenic inflammatory bowel disease MVK Louise Daugherty edited their review of gene: MVK
Primary immunodeficiency or monogenic inflammatory bowel disease MTHFD1 Louise Daugherty edited their review of gene: MTHFD1
Primary immunodeficiency or monogenic inflammatory bowel disease MSN Louise Daugherty edited their review of gene: MSN
Primary immunodeficiency or monogenic inflammatory bowel disease MSH6 Louise Daugherty edited their review of gene: MSH6
Primary immunodeficiency or monogenic inflammatory bowel disease MS4A1 Louise Daugherty commented on gene: MS4A1
Primary immunodeficiency or monogenic inflammatory bowel disease MOGS Louise Daugherty edited their review of gene: MOGS
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty edited their review of gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease MEFV Louise Daugherty edited their review of gene: MEFV
Primary immunodeficiency or monogenic inflammatory bowel disease MCM4 Louise Daugherty edited their review of gene: MCM4
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Louise Daugherty commented on gene: MASP2
Primary immunodeficiency or monogenic inflammatory bowel disease MAP3K14 Louise Daugherty edited their review of gene: MAP3K14
Primary immunodeficiency or monogenic inflammatory bowel disease MALT1 Louise Daugherty edited their review of gene: MALT1
Primary immunodeficiency or monogenic inflammatory bowel disease MAGT1 Louise Daugherty commented on gene: MAGT1
Primary immunodeficiency or monogenic inflammatory bowel disease LYST Louise Daugherty edited their review of gene: LYST
Primary immunodeficiency or monogenic inflammatory bowel disease LRBA Louise Daugherty edited their review of gene: LRBA
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty edited their review of gene: LPIN2
Primary immunodeficiency or monogenic inflammatory bowel disease LIG4 Louise Daugherty commented on gene: LIG4
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty commented on gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LCK Louise Daugherty edited their review of gene: LCK
Primary immunodeficiency or monogenic inflammatory bowel disease LAT Louise Daugherty commented on gene: LAT
Primary immunodeficiency or monogenic inflammatory bowel disease LAMTOR2 Louise Daugherty edited their review of gene: LAMTOR2
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty reviewed gene: KMT2D
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty reviewed gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease JAK3 Louise Daugherty commented on gene: JAK3
Primary immunodeficiency or monogenic inflammatory bowel disease JAGN1 Louise Daugherty commented on gene: JAGN1
Primary immunodeficiency or monogenic inflammatory bowel disease ITK Louise Daugherty commented on gene: ITK
Primary immunodeficiency or monogenic inflammatory bowel disease ITGB2 Louise Daugherty edited their review of gene: ITGB2
Primary immunodeficiency or monogenic inflammatory bowel disease ITCH Louise Daugherty edited their review of gene: ITCH
Primary immunodeficiency or monogenic inflammatory bowel disease ISG15 Louise Daugherty edited their review of gene: ISG15
Primary immunodeficiency or monogenic inflammatory bowel disease IRF7 Louise Daugherty commented on gene: IRF7
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Louise Daugherty reviewed gene: IRF3
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty reviewed gene: IRF2BP2
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK4 Louise Daugherty edited their review of gene: IRAK4
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK1 Louise Daugherty reviewed gene: IRAK1
Primary immunodeficiency or monogenic inflammatory bowel disease INO80 Louise Daugherty edited their review of gene: INO80
Primary immunodeficiency or monogenic inflammatory bowel disease IL7R Louise Daugherty commented on gene: IL7R
Primary immunodeficiency or monogenic inflammatory bowel disease IL36RN Louise Daugherty edited their review of gene: IL36RN
Primary immunodeficiency or monogenic inflammatory bowel disease IL2RG Louise Daugherty commented on gene: IL2RG
Primary immunodeficiency or monogenic inflammatory bowel disease IL2RA Louise Daugherty edited their review of gene: IL2RA
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty edited their review of gene: IL21R
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL1RN Louise Daugherty edited their review of gene: IL1RN
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RC Louise Daugherty edited their review of gene: IL17RC
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RA Louise Daugherty commented on gene: IL17RA
Primary immunodeficiency or monogenic inflammatory bowel disease IL17F Louise Daugherty edited their review of gene: IL17F
Primary immunodeficiency or monogenic inflammatory bowel disease IL12RB1 Louise Daugherty edited their review of gene: IL12RB1
Primary immunodeficiency or monogenic inflammatory bowel disease IL12B Louise Daugherty commented on gene: IL12B
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RB Louise Daugherty commented on gene: IL10RB
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RA Louise Daugherty commented on gene: IL10RA
Primary immunodeficiency or monogenic inflammatory bowel disease IL10 Louise Daugherty commented on gene: IL10
Primary immunodeficiency or monogenic inflammatory bowel disease IKZF1 Louise Daugherty commented on gene: IKZF1
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty edited their review of gene: IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease NFKBIA Louise Daugherty edited their review of gene: NFKBIA
Primary immunodeficiency or monogenic inflammatory bowel disease IGLL1 Louise Daugherty commented on gene: IGLL1
Primary immunodeficiency or monogenic inflammatory bowel disease IGKC Louise Daugherty commented on gene: IGKC
Primary immunodeficiency or monogenic inflammatory bowel disease IGHM Louise Daugherty commented on gene: IGHM
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty edited their review of gene: IFNGR2
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR1 Louise Daugherty edited their review of gene: IFNGR1
Primary immunodeficiency or monogenic inflammatory bowel disease IFNAR2 Louise Daugherty reviewed gene: IFNAR2
Primary immunodeficiency or monogenic inflammatory bowel disease ICOS Louise Daugherty commented on gene: ICOS
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty reviewed gene: HYOU1
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty commented on gene: RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Louise Daugherty commented on gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty reviewed gene: HMOX1
Primary immunodeficiency or monogenic inflammatory bowel disease HELLS Louise Daugherty commented on gene: HELLS
Primary immunodeficiency or monogenic inflammatory bowel disease HAX1 Louise Daugherty commented on gene: HAX1
Primary immunodeficiency or monogenic inflammatory bowel disease GINS1 Louise Daugherty commented on gene: GINS1
Primary immunodeficiency or monogenic inflammatory bowel disease GFI1 Louise Daugherty commented on gene: GFI1
Primary immunodeficiency or monogenic inflammatory bowel disease GATA2 Louise Daugherty commented on gene: GATA2
Primary immunodeficiency or monogenic inflammatory bowel disease SLC37A4 Louise Daugherty commented on gene: SLC37A4
Primary immunodeficiency or monogenic inflammatory bowel disease G6PD Louise Daugherty commented on gene: G6PD
Primary immunodeficiency or monogenic inflammatory bowel disease G6PC3 Louise Daugherty commented on gene: G6PC3
Primary immunodeficiency or monogenic inflammatory bowel disease FPR1 Louise Daugherty commented on gene: FPR1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXP3 Louise Daugherty commented on gene: FOXP3
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FERMT3 Louise Daugherty commented on gene: FERMT3
Primary immunodeficiency or monogenic inflammatory bowel disease FCN3 Louise Daugherty commented on gene: FCN3
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Louise Daugherty commented on gene: FCGR3A
Primary immunodeficiency or monogenic inflammatory bowel disease FAT4 Louise Daugherty edited their review of gene: FAT4
Primary immunodeficiency or monogenic inflammatory bowel disease FASLG Louise Daugherty commented on gene: FASLG
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty edited their review of gene: FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FAAP24 Louise Daugherty reviewed gene: FAAP24
Primary immunodeficiency or monogenic inflammatory bowel disease EXTL3 Louise Daugherty reviewed gene: EXTL3
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty reviewed gene: ERCC6L2
Primary immunodeficiency or monogenic inflammatory bowel disease EPG5 Louise Daugherty commented on gene: EPG5
Primary immunodeficiency or monogenic inflammatory bowel disease ELANE Louise Daugherty commented on gene: ELANE
Primary immunodeficiency or monogenic inflammatory bowel disease DOCK8 Louise Daugherty commented on gene: DOCK8
Primary immunodeficiency or monogenic inflammatory bowel disease DOCK2 Louise Daugherty commented on gene: DOCK2
Primary immunodeficiency or monogenic inflammatory bowel disease DNMT3B Louise Daugherty commented on gene: DNMT3B
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty reviewed gene: DNASE2
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty reviewed gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Louise Daugherty reviewed gene: DNAJC21
Primary immunodeficiency or monogenic inflammatory bowel disease DKC1 Louise Daugherty commented on gene: DKC1
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1C Louise Daugherty commented on gene: DCLRE1C
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty commented on gene: DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease CYBA Louise Daugherty edited their review of gene: CYBA
Primary immunodeficiency or monogenic inflammatory bowel disease CXCR4 Louise Daugherty commented on gene: CXCR4
Primary immunodeficiency or monogenic inflammatory bowel disease CTSC Louise Daugherty commented on gene: CTSC
Primary immunodeficiency or monogenic inflammatory bowel disease CTPS1 Louise Daugherty commented on gene: CTPS1
Primary immunodeficiency or monogenic inflammatory bowel disease CTLA4 Louise Daugherty commented on gene: CTLA4
Primary immunodeficiency or monogenic inflammatory bowel disease CTC1 Louise Daugherty reviewed gene: CTC1
Primary immunodeficiency or monogenic inflammatory bowel disease CSF3R Louise Daugherty commented on gene: CSF3R
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty reviewed gene: CSF2RB
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RA Louise Daugherty commented on gene: CSF2RA
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty commented on gene: CR2
Primary immunodeficiency or monogenic inflammatory bowel disease CORO1A Louise Daugherty commented on gene: CORO1A
Primary immunodeficiency or monogenic inflammatory bowel disease COPA Louise Daugherty commented on gene: COPA
Primary immunodeficiency or monogenic inflammatory bowel disease CLPB Louise Daugherty commented on gene: CLPB
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty reviewed gene: CLCN7
Primary immunodeficiency or monogenic inflammatory bowel disease CIITA Louise Daugherty commented on gene: CIITA
Primary immunodeficiency or monogenic inflammatory bowel disease CHD7 Louise Daugherty commented on gene: CHD7
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Louise Daugherty reviewed gene: CFTR
Primary immunodeficiency or monogenic inflammatory bowel disease CFP Louise Daugherty commented on gene: CFP
Primary immunodeficiency or monogenic inflammatory bowel disease CFI Louise Daugherty commented on gene: CFI
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty commented on gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty commented on gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR2 Louise Daugherty commented on gene: CFHR2
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty commented on gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFH Louise Daugherty commented on gene: CFH
Primary immunodeficiency or monogenic inflammatory bowel disease CFD Louise Daugherty commented on gene: CFD
Primary immunodeficiency or monogenic inflammatory bowel disease ADA2 Louise Daugherty commented on gene: ADA2
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Louise Daugherty commented on gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease CDCA7 Louise Daugherty commented on gene: CDCA7
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD81 Louise Daugherty commented on gene: CD81
Primary immunodeficiency or monogenic inflammatory bowel disease CD79A Louise Daugherty commented on gene: CD79A
Primary immunodeficiency or monogenic inflammatory bowel disease CD70 Louise Daugherty edited their review of gene: CD70
Primary immunodeficiency or monogenic inflammatory bowel disease CD59 Louise Daugherty commented on gene: CD59
Primary immunodeficiency or monogenic inflammatory bowel disease CD55 Louise Daugherty edited their review of gene: CD55
Primary immunodeficiency or monogenic inflammatory bowel disease CD46 Louise Daugherty commented on gene: CD46
Primary immunodeficiency or monogenic inflammatory bowel disease CD40LG Louise Daugherty commented on gene: CD40LG
Primary immunodeficiency or monogenic inflammatory bowel disease CD40 Louise Daugherty commented on gene: CD40
Primary immunodeficiency or monogenic inflammatory bowel disease CD3G Louise Daugherty commented on gene: CD3G
Primary immunodeficiency or monogenic inflammatory bowel disease CD3E Louise Daugherty commented on gene: CD3E
Primary immunodeficiency or monogenic inflammatory bowel disease CD3D Louise Daugherty commented on gene: CD3D
Primary immunodeficiency or monogenic inflammatory bowel disease CD27 Louise Daugherty commented on gene: CD27
Primary immunodeficiency or monogenic inflammatory bowel disease CD247 Louise Daugherty commented on gene: CD247
Primary immunodeficiency or monogenic inflammatory bowel disease CD19 Louise Daugherty commented on gene: CD19
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty commented on gene: CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease CASP8 Louise Daugherty edited their review of gene: CASP8
Primary immunodeficiency or monogenic inflammatory bowel disease CASP10 Louise Daugherty commented on gene: CASP10
Primary immunodeficiency or monogenic inflammatory bowel disease CARD9 Louise Daugherty commented on gene: CARD9
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty commented on gene: C9
Primary immunodeficiency or monogenic inflammatory bowel disease C8G Louise Daugherty edited their review of gene: C8G
Primary immunodeficiency or monogenic inflammatory bowel disease C8B Louise Daugherty commented on gene: C8B
Primary immunodeficiency or monogenic inflammatory bowel disease C8A Louise Daugherty commented on gene: C8A
Primary immunodeficiency or monogenic inflammatory bowel disease C7 Louise Daugherty commented on gene: C7
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty commented on gene: C6
Primary immunodeficiency or monogenic inflammatory bowel disease C5 Louise Daugherty commented on gene: C5
Primary immunodeficiency or monogenic inflammatory bowel disease C4B Louise Daugherty commented on gene: C4B
Primary immunodeficiency or monogenic inflammatory bowel disease C4A Louise Daugherty commented on gene: C4A
Primary immunodeficiency or monogenic inflammatory bowel disease C2 Louise Daugherty commented on gene: C2
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1R Louise Daugherty commented on gene: C1R
Primary immunodeficiency or monogenic inflammatory bowel disease C1QC Louise Daugherty commented on gene: C1QC
Primary immunodeficiency or monogenic inflammatory bowel disease C1QB Louise Daugherty commented on gene: C1QB
Primary immunodeficiency or monogenic inflammatory bowel disease C1QA Louise Daugherty commented on gene: C1QA
Primary immunodeficiency or monogenic inflammatory bowel disease BTK Louise Daugherty commented on gene: BTK
Primary immunodeficiency or monogenic inflammatory bowel disease BLNK Louise Daugherty commented on gene: BLNK
Primary immunodeficiency or monogenic inflammatory bowel disease BLM Louise Daugherty commented on gene: BLM
Primary immunodeficiency or monogenic inflammatory bowel disease BCL11B Louise Daugherty reviewed gene: BCL11B
Primary immunodeficiency or monogenic inflammatory bowel disease BCL10 Louise Daugherty commented on gene: BCL10
Primary immunodeficiency or monogenic inflammatory bowel disease BACH2 Louise Daugherty reviewed gene: BACH2
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty edited their review of gene: B2M
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty reviewed gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease ATM Louise Daugherty commented on gene: ATM
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty commented on gene: ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease APOL1 Louise Daugherty commented on gene: APOL1
Primary immunodeficiency or monogenic inflammatory bowel disease AP3D1 Louise Daugherty commented on gene: AP3D1
Primary immunodeficiency or monogenic inflammatory bowel disease AP3B1 Louise Daugherty commented on gene: AP3B1
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty edited their review of gene: AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease AK2 Louise Daugherty commented on gene: AK2
Primary immunodeficiency or monogenic inflammatory bowel disease AIRE Louise Daugherty commented on gene: AIRE
Primary immunodeficiency or monogenic inflammatory bowel disease AICDA Louise Daugherty commented on gene: AICDA
Primary immunodeficiency or monogenic inflammatory bowel disease ADAR Louise Daugherty commented on gene: ADAR
Primary immunodeficiency or monogenic inflammatory bowel disease ADAM17 Louise Daugherty commented on gene: ADAM17
Primary immunodeficiency or monogenic inflammatory bowel disease ADA Louise Daugherty commented on gene: ADA
Primary immunodeficiency or monogenic inflammatory bowel disease ACTB Louise Daugherty edited their review of gene: ACTB
Primary immunodeficiency or monogenic inflammatory bowel disease ACP5 Louise Daugherty commented on gene: ACP5
Primary immunodeficiency or monogenic inflammatory bowel disease CYBB Louise Daugherty classified CYBB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CFB Louise Daugherty classified CFB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C3 Louise Daugherty classified C3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CARD11 Louise Daugherty classified CARD11 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Sophie Hambleton reviewed gene: PSENEN
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Sophie Hambleton reviewed gene: PSEN1
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Sophie Hambleton reviewed gene: POLE2
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Sophie Hambleton reviewed gene: POLA1
Primary immunodeficiency or monogenic inflammatory bowel disease PLEKHM1 Sophie Hambleton reviewed gene: PLEKHM1
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Sophie Hambleton reviewed gene: PEPD
Primary immunodeficiency or monogenic inflammatory bowel disease OSTM1 Sophie Hambleton reviewed gene: OSTM1
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Sophie Hambleton reviewed gene: NSMCE3
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Sophie Hambleton reviewed gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Sophie Hambleton reviewed gene: NCSTN
Primary immunodeficiency or monogenic inflammatory bowel disease NBAS Sophie Hambleton reviewed gene: NBAS
Primary immunodeficiency or monogenic inflammatory bowel disease MSH6 Sophie Hambleton reviewed gene: MSH6
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Sophie Hambleton reviewed gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Sophie Hambleton reviewed gene: KMT2D
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Sophie Hambleton reviewed gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease JAK1 Sophie Hambleton reviewed gene: JAK1
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Sophie Hambleton reviewed gene: IRF2BP2
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK1 Sophie Hambleton reviewed gene: IRAK1
Primary immunodeficiency or monogenic inflammatory bowel disease IFNAR2 Sophie Hambleton reviewed gene: IFNAR2
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Sophie Hambleton reviewed gene: HYOU1
Primary immunodeficiency or monogenic inflammatory bowel disease HPS6 Sophie Hambleton reviewed gene: HPS6
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Sophie Hambleton reviewed gene: HPS4
Primary immunodeficiency or monogenic inflammatory bowel disease HPS1 Sophie Hambleton reviewed gene: HPS1
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Sophie Hambleton reviewed gene: HMOX1
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Sophie Hambleton reviewed gene: GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease FAAP24 Sophie Hambleton reviewed gene: FAAP24
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Sophie Hambleton reviewed gene: ERCC6L2
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Sophie Hambleton reviewed gene: DNASE2
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Sophie Hambleton reviewed gene: DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease IL17F Sophie Hambleton reviewed gene: IL17F
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty edited their review of gene: CARD14
Generalised pustular psoriasis CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty classified CARD14 as Amber List (moderate evidence)
Generalised pustular psoriasis CARD14 Louise Daugherty classified CARD14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Sophie Hambleton reviewed gene: SAMD9
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Sophie Hambleton reviewed gene: DNAJC21
Intellectual disability ASH1L Louise Daugherty classified ASH1L as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CTC1 Sophie Hambleton reviewed gene: CTC1
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Sophie Hambleton reviewed gene: IRF3
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Sophie Hambleton reviewed gene: CSF2RB
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Sophie Hambleton reviewed gene: CLCN7
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Sophie Hambleton reviewed gene: CFTR
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Sophie Hambleton reviewed gene: ATP6AP1
Primary immunodeficiency or monogenic inflammatory bowel disease BCL11B Sophie Hambleton reviewed gene: BCL11B
Primary immunodeficiency or monogenic inflammatory bowel disease BACH2 Sophie Hambleton reviewed gene: BACH2
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Sophie Hambleton reviewed gene: UNC93B1
Primary immunodeficiency or monogenic inflammatory bowel disease TYK2 Sophie Hambleton reviewed gene: TYK2
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Sophie Hambleton reviewed gene: WIPF1
Primary immunodeficiency or monogenic inflammatory bowel disease UNC119 Sophie Hambleton reviewed gene: UNC119
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Sophie Hambleton reviewed gene: TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Sophie Hambleton reviewed gene: TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease TPP1 Sophie Hambleton reviewed gene: TPP1
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF12 Sophie Hambleton reviewed gene: TNFSF12
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF4 Sophie Hambleton reviewed gene: TNFRSF4
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF13C Sophie Hambleton reviewed gene: TNFRSF13C
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Sophie Hambleton reviewed gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Sophie Hambleton reviewed gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease THBD Sophie Hambleton reviewed gene: THBD
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Sophie Hambleton reviewed gene: TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERC Sophie Hambleton reviewed gene: TERC
Primary immunodeficiency or monogenic inflammatory bowel disease TCF7L1 Sophie Hambleton reviewed gene: TCF7L1
Primary immunodeficiency or monogenic inflammatory bowel disease TAPBP Sophie Hambleton reviewed gene: TAPBP
Primary immunodeficiency or monogenic inflammatory bowel disease STAT5A Sophie Hambleton reviewed gene: STAT5A
Primary immunodeficiency or monogenic inflammatory bowel disease SH3BP2 Sophie Hambleton reviewed gene: SH3BP2
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Sophie Hambleton reviewed gene: RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RHOH Sophie Hambleton reviewed gene: RHOH
Primary immunodeficiency or monogenic inflammatory bowel disease RET Sophie Hambleton reviewed gene: RET
Primary immunodeficiency or monogenic inflammatory bowel disease RBCK1 Sophie Hambleton reviewed gene: RBCK1
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB9 Sophie Hambleton reviewed gene: PSMB9
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Sophie Hambleton reviewed gene: PSMB4
Primary immunodeficiency or monogenic inflammatory bowel disease PSMA3 Sophie Hambleton reviewed gene: PSMA3
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Sophie Hambleton reviewed gene: POLE
Primary immunodeficiency or monogenic inflammatory bowel disease PMS2 Sophie Hambleton reviewed gene: PMS2
Primary immunodeficiency or monogenic inflammatory bowel disease NRAS Sophie Hambleton reviewed gene: NRAS
Primary immunodeficiency or monogenic inflammatory bowel disease NOP10 Sophie Hambleton reviewed gene: NOP10
Primary immunodeficiency or monogenic inflammatory bowel disease NHP2 Sophie Hambleton reviewed gene: NHP2
Primary immunodeficiency or monogenic inflammatory bowel disease NFKBID Sophie Hambleton reviewed gene: NFKBID
Primary immunodeficiency or monogenic inflammatory bowel disease NFAT5 Sophie Hambleton reviewed gene: NFAT5
Primary immunodeficiency or monogenic inflammatory bowel disease NCF4 Sophie Hambleton reviewed gene: NCF4
Primary immunodeficiency or monogenic inflammatory bowel disease MS4A1 Sophie Hambleton reviewed gene: MS4A1
Primary immunodeficiency or monogenic inflammatory bowel disease MRE11 Sophie Hambleton reviewed gene: MRE11
Primary immunodeficiency or monogenic inflammatory bowel disease MPO Sophie Hambleton reviewed gene: MPO
Primary immunodeficiency or monogenic inflammatory bowel disease MPI Sophie Hambleton reviewed gene: MPI
Primary immunodeficiency or monogenic inflammatory bowel disease BTK Louise Daugherty commented on gene: BTK
Primary immunodeficiency or monogenic inflammatory bowel disease MBL2 Sophie Hambleton reviewed gene: MBL2
Primary immunodeficiency or monogenic inflammatory bowel disease MASP2 Sophie Hambleton reviewed gene: MASP2
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Sophie Hambleton reviewed gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease LAT Sophie Hambleton reviewed gene: LAT
Primary immunodeficiency or monogenic inflammatory bowel disease IFIH1 Sophie Hambleton reviewed gene: IFIH1
Primary immunodeficiency or monogenic inflammatory bowel disease ICOSLG Sophie Hambleton reviewed gene: ICOSLG
Primary immunodeficiency or monogenic inflammatory bowel disease GTF2H5 Sophie Hambleton reviewed gene: GTF2H5
Primary immunodeficiency or monogenic inflammatory bowel disease FPR1 Sophie Hambleton reviewed gene: FPR1
Primary immunodeficiency or monogenic inflammatory bowel disease FCN3 Sophie Hambleton reviewed gene: FCN3
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3A Sophie Hambleton reviewed gene: FCGR3A
Primary immunodeficiency or monogenic inflammatory bowel disease FBF1 Sophie Hambleton reviewed gene: FBF1
Early onset or syndromic epilepsy ADGRG1 Arianna Tucci reviewed gene: ADGRG1
Primary immunodeficiency or monogenic inflammatory bowel disease FAT4 Sophie Hambleton reviewed gene: FAT4
Primary immunodeficiency or monogenic inflammatory bowel disease F12 Sophie Hambleton reviewed gene: F12
Early onset or syndromic epilepsy ADAR Arianna Tucci reviewed gene: ADAR
Early onset or syndromic epilepsy ACOX1 Arianna Tucci reviewed gene: ACOX1
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Sophie Hambleton reviewed gene: ERCC3
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC2 Sophie Hambleton reviewed gene: ERCC2
Early onset or syndromic epilepsy ABAT Arianna Tucci reviewed gene: ABAT
Primary immunodeficiency or monogenic inflammatory bowel disease EPCAM Sophie Hambleton reviewed gene: EPCAM
Primary immunodeficiency or monogenic inflammatory bowel disease DKC1 Sophie Hambleton reviewed gene: DKC1
Primary immunodeficiency or monogenic inflammatory bowel disease CTSC Sophie Hambleton reviewed gene: CTSC
Early onset or syndromic epilepsy AARS2 Arianna Tucci reviewed gene: AARS2
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Sophie Hambleton commented on gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Sophie Hambleton reviewed gene: CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Sophie Hambleton reviewed gene: CFHR4
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Sophie Hambleton reviewed gene: CFHR3
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Sophie Hambleton reviewed gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Sophie Hambleton reviewed gene: CFHR1
Primary immunodeficiency or monogenic inflammatory bowel disease CFB Sophie Hambleton reviewed gene: CFB
Primary immunodeficiency or monogenic inflammatory bowel disease CEBPE Sophie Hambleton reviewed gene: CEBPE
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Sophie Hambleton reviewed gene: AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease IGLL1 Louise Daugherty marked gene: IGLL1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL10 Louise Daugherty commented on gene: IL10
Primary immunodeficiency or monogenic inflammatory bowel disease MSH6 Louise Daugherty marked gene: MSH6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MSH6 Louise Daugherty classified MSH6 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MS4A1 Louise Daugherty commented on gene: MS4A1
Primary immunodeficiency or monogenic inflammatory bowel disease MRE11 Louise Daugherty commented on gene: MRE11
Primary immunodeficiency or monogenic inflammatory bowel disease FCGR3B Louise Daugherty marked gene: FCGR3B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR5 Louise Daugherty marked gene: CFHR5 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR4 Louise Daugherty marked gene: CFHR4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR3 Louise Daugherty marked gene: CFHR3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CFHR1 Louise Daugherty marked gene: CFHR1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD247 Louise Daugherty marked gene: CD247 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD46 Louise Daugherty marked gene: CD46 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD46 Louise Daugherty classified CD46 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CD46 Louise Daugherty edited their review of gene: CD46
Primary immunodeficiency or monogenic inflammatory bowel disease CD81 Louise Daugherty marked gene: CD81 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD81 Louise Daugherty commented on gene: CD81
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty marked gene: CD8A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD247 Louise Daugherty classified CD247 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRNT1 Louise Daugherty marked gene: TRNT1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TRNT1 Louise Daugherty classified TRNT1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRNT1 Louise Daugherty commented on gene: TRNT1
Primary immunodeficiency or monogenic inflammatory bowel disease TRNT1 Louise Daugherty edited their review of gene: TRNT1
Primary immunodeficiency or monogenic inflammatory bowel disease TREX1 Louise Daugherty marked gene: TREX1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TREX1 Louise Daugherty edited their review of gene: TREX1
Primary immunodeficiency or monogenic inflammatory bowel disease TREX1 Louise Daugherty classified TREX1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TREX1 Louise Daugherty commented on gene: TREX1
Primary immunodeficiency or monogenic inflammatory bowel disease LCK Louise Daugherty marked gene: LCK as ready
Primary immunodeficiency or monogenic inflammatory bowel disease LCK Louise Daugherty classified LCK as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty marked gene: TTC7A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty classified TTC7A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Louise Daugherty edited their review of gene: TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty marked gene: TRAC as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty classified TRAC as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Louise Daugherty commented on gene: TRAC
Primary immunodeficiency or monogenic inflammatory bowel disease TPP2 Louise Daugherty marked gene: TPP2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TPP2 Louise Daugherty classified TPP2 as Green List (high evidence)
Undiagnosed metabolic disorders GPD1 Ellen McDonagh classified GPD1 as Green List (high evidence)
Undiagnosed metabolic disorders GPD1 Ellen McDonagh Added gene to panel
Severe hypertriglyceridaemia GPD1 Ellen McDonagh classified GPD1 as Green List (high evidence)
Hereditary neuropathy SYT2 Ellen McDonagh commented on gene: SYT2
Hereditary neuropathy SYT2 Ellen McDonagh classified SYT2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TPP2 Louise Daugherty commented on gene: TPP2
Primary immunodeficiency or monogenic inflammatory bowel disease CD3G Louise Daugherty marked gene: CD3G as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD3G Louise Daugherty classified CD3G as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CD3G Louise Daugherty edited their review of gene: CD3G
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty marked gene: CCBE1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty classified CCBE1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty edited their review of gene: CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Louise Daugherty commented on gene: CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease MCM4 Louise Daugherty marked gene: MCM4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MCM4 Louise Daugherty commented on gene: MCM4
Primary immunodeficiency or monogenic inflammatory bowel disease MCM4 Louise Daugherty classified MCM4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RA Louise Daugherty marked gene: IL17RA as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RA Louise Daugherty classified IL17RA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RA Louise Daugherty edited their review of gene: IL17RA
Primary immunodeficiency or monogenic inflammatory bowel disease TMC8 Louise Daugherty marked gene: TMC8 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty marked gene: TMC6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF1A Louise Daugherty marked gene: TNFRSF1A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TCF3 Louise Daugherty marked gene: TCF3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Louise Daugherty marked gene: LPIN2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL36RN Louise Daugherty marked gene: IL36RN as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL1RN Louise Daugherty marked gene: IL1RN as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FOXP3 Louise Daugherty marked gene: FOXP3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease OTULIN Louise Daugherty marked gene: OTULIN as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FERMT3 Louise Daugherty marked gene: FERMT3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease GATA2 Louise Daugherty marked gene: GATA2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Louise Daugherty marked gene: TLR3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CARD9 Louise Daugherty marked gene: CARD9 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CARD9 Louise Daugherty classified CARD9 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CARD9 Louise Daugherty edited their review of gene: CARD9
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RB Louise Daugherty marked gene: IL10RB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RB Louise Daugherty classified IL10RB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RB Louise Daugherty edited their review of gene: IL10RB
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RB Louise Daugherty commented on gene: IL10RB
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RA Louise Daugherty marked gene: IL10RA as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RA Louise Daugherty classified IL10RA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RA Louise Daugherty edited their review of gene: IL10RA
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RA Louise Daugherty commented on gene: IL10RA
Primary immunodeficiency or monogenic inflammatory bowel disease IL10 Louise Daugherty marked gene: IL10 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL10 Louise Daugherty classified IL10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL10 Louise Daugherty edited their review of gene: IL10
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty marked gene: CARD14 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty edited their review of gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty classified CARD14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Sophie Hambleton reviewed gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CD8A Sophie Hambleton reviewed gene: CD8A
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease IL12B Louise Daugherty marked gene: IL12B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL12B Louise Daugherty classified IL12B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL12B Louise Daugherty edited their review of gene: IL12B
Primary immunodeficiency or monogenic inflammatory bowel disease LAMTOR2 Louise Daugherty marked gene: LAMTOR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease LAMTOR2 Louise Daugherty classified LAMTOR2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease KRAS Louise Daugherty marked gene: KRAS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease KRAS Louise Daugherty commented on gene: KRAS
Primary immunodeficiency or monogenic inflammatory bowel disease KRAS Louise Daugherty commented on gene: KRAS
Primary immunodeficiency or monogenic inflammatory bowel disease KRAS Louise Daugherty commented on gene: KRAS
Primary immunodeficiency or monogenic inflammatory bowel disease JAGN1 Louise Daugherty marked gene: JAGN1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease JAGN1 Louise Daugherty classified JAGN1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease JAGN1 Louise Daugherty edited their review of gene: JAGN1
Primary immunodeficiency or monogenic inflammatory bowel disease ITGB2 Louise Daugherty marked gene: ITGB2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ITGB2 Louise Daugherty classified ITGB2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ITGAM Louise Daugherty marked gene: ITGAM as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ITGAM Louise Daugherty classified ITGAM as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ITCH Louise Daugherty marked gene: ITCH as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ITCH Louise Daugherty classified ITCH as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ITCH Louise Daugherty commented on gene: ITCH
Primary immunodeficiency or monogenic inflammatory bowel disease ITCH Louise Daugherty commented on gene: ITCH
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3 Eleanor Williams reviewed gene: TRAF3
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty commented on gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease WRAP53 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease WDR1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease USP18 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TNFSF11 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF11A Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TFRC Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TCIRG1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease STN1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease SRP54 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease SNX10 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCD2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9L Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease SAMD9 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease RNU4ATAC Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease RANBP2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PTEN Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PSENEN Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PSEN1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease POLA1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PLEKHM1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PEPD Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease OSTM1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NSMCE3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NCSTN Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NBAS Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease JAK1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease IRF3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease IRF2BP2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease IFNAR2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease FAAP24 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease DNASE1L3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease DNAJC21 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CTC1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CSF2RB Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CFTR Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease BCL11B Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease BACH2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease ATP6AP1 Louise Daugherty Added gene to panel
Skeletal dysplasia MAP3K7 Helen Brittain marked gene: MAP3K7 as ready
Skeletal dysplasia MAP3K7 Helen Brittain classified MAP3K7 as Green List (high evidence)
Skeletal dysplasia MAP3K7 Helen Brittain Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty classified AP1S3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC2 Louise Daugherty classified ERCC2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty classified ERCC3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease FAT4 Louise Daugherty classified FAT4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease FBF1 Louise Daugherty classified FBF1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease GTF2H5 Louise Daugherty classified GTF2H5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ICOSLG Louise Daugherty classified ICOSLG as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease MPI Louise Daugherty classified MPI as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NFKBID Louise Daugherty classified NFKBID as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PSMA3 Louise Daugherty classified PSMA3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty classified PSMB4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB9 Louise Daugherty classified PSMB9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TPP1 Louise Daugherty classified TPP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TPP1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB9 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PSMB4 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease PSMA3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NFKBID Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease MPI Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease ICOSLG Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease GTF2H5 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease FBF1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease FAT4 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease AP1S3 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Eleanor Williams edited their review of gene: TRAF3IP2
Primary immunodeficiency or monogenic inflammatory bowel disease TRAF3IP2 Eleanor Williams commented on gene: TRAF3IP2
Early onset or syndromic epilepsy ASAH1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ZBTB18 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy YWHAG Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy WDR73 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy WDR62 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy VLDLR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy UNC80 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy UBA5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBB4A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBB3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBB2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBA8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TUBA1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSFM Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSEN54 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSEN34 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TSEN2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRIP13 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRIM8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TREX1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRAPPC6B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TRAPPC12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TNK2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TMEM70 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TIMM50 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TFE3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBCK Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBCD Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy TBC1D20 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SURF1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SUCLG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SUCLA2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy STAMBP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy STAG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ST3GAL5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SPR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SNORD118 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SMC1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC45A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC25A12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SIX3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SHH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SETD1B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SETBP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SEPSECS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SDHA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCO2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SCO1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SAMHD1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RUSC2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RRM2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RORB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ROGDI Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNU4ATAC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNASET2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNASEH2C Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNASEH2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RNASEH2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RMND1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RFT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RELN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RAB3GAP2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RAB3GAP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RAB18 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy RAB11B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy QDPR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTPN23 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTF1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PTEN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PSPH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PSAT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PSAP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PROSC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PPP3CA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy POMT2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy POMT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy POMGNT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PMM2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PLAA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIK3R2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIK3CA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGW Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGO Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PIGC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PHGDH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PEX7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PEX1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PET100 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PDSS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PDHX Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PDHA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCLO Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCCB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PCCA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PAH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy PAFAH1B1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy OTX2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy OPHN1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy OCLN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NUBPL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NSDHL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NSD1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NRAS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NPRL3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NPRL2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NGLY1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFV1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFS1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFAF5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFAF4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFAF3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFAF2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFA2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFA11 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFA10 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDUFA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NDE1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy NAGA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MTR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MTHFR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MPDU1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MMADHC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MMACHC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MLC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MED12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MAP2K2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MAP2K1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy MANBA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy LIPT2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy LIAS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy LARGE1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KRAS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIF5C Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIF2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIF1A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KIAA1109 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCTD3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNQ5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KCNJ11 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy KAT5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ISPD Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy IKBKG Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy IFIH1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HSPD1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HSD17B4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HRAS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HPRT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HOXA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HEXB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HEXA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HEPACAM Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HCN2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HCFC1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy HCCS Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy H3F3B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy H3F3A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GTPBP3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GRIN2D Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GNB1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GNAQ Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GM2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLUL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLUD1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLI3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLDC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GLB1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GFM1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GFAP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GCSH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GCH1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GBA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GALC Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy GABRB2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FUCA1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FRRS1L Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FOXRED1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FOLR1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FLNA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FKTN Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FKRP Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FIG4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FGFR3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FGF12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FBXL4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FASTKD2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy FARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EXOSC3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ETHE1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EMX2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2S3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B5 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EIF2B1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy EARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DYNC1H1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DPM2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DPM1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DPAGT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DOLK Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DNM1L Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DNAJC6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DHCR24 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DENND5A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DDX3X Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DCX Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DBT Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy D2HGDH Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CSNK2B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COX15 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COX10 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COQ9 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COQ6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COQ4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COQ2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COL18A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COG8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COG7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COG6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy COG4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CNPY3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CLCN4 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CCND2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CCDC88A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CC2D2A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy CACNA2D2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy C12orf57 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BRAF Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BOLA3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BCS1L Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BCKDHB Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy BCKDHA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP7A Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP5A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ASPA Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARV1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARID1B Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ARFGEF2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AMT Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AMPD2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALPL Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG9 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG8 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG6 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG12 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ALDH5A1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AKT3 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AKT1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AIMP1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ADGRG1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ADAR Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ACOX1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy AARS2 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ATP1A2 Sarah Leigh classified ATP1A2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CD81 Sophie Hambleton reviewed gene: CD81
Primary immunodeficiency or monogenic inflammatory bowel disease CD46 Sophie Hambleton reviewed gene: CD46
Intellectual disability ZBTB24 Zornitza Stark Added gene to panel
Intellectual disability WDR26 Zornitza Stark Added gene to panel
Intellectual disability WDFY3 Zornitza Stark Added gene to panel
Intellectual disability VPS53 Zornitza Stark Added gene to panel
Intellectual disability UNC13A Zornitza Stark Added gene to panel
Intellectual disability TRAPPC6B Zornitza Stark Added gene to panel
Intellectual disability TNIK Zornitza Stark Added gene to panel
Intellectual disability TBC1D23 Zornitza Stark Added gene to panel
Intellectual disability TAF6 Zornitza Stark Added gene to panel
Intellectual disability SSR4 Zornitza Stark Added gene to panel
Intellectual disability SPECC1L Zornitza Stark Added gene to panel
Intellectual disability SLC25A12 Zornitza Stark Added gene to panel
Intellectual disability SETD2 Zornitza Stark Added gene to panel
Intellectual disability SETD1B Zornitza Stark Added gene to panel
Intellectual disability SCN3A Zornitza Stark Added gene to panel
Intellectual disability RNF125 Zornitza Stark Added gene to panel
Intellectual disability RBBP8 Zornitza Stark Added gene to panel
Intellectual disability PTPN23 Zornitza Stark Added gene to panel
Intellectual disability PPP3CA Zornitza Stark Added gene to panel
Intellectual disability PPP1R15B Zornitza Stark Added gene to panel
Intellectual disability PIGY Zornitza Stark Added gene to panel
Intellectual disability PIGW Zornitza Stark Added gene to panel
Intellectual disability PIGC Zornitza Stark Added gene to panel
Intellectual disability PCLO Zornitza Stark Added gene to panel
Intellectual disability PBX1 Zornitza Stark Added gene to panel
Intellectual disability NDUFAF5 Zornitza Stark Added gene to panel
Intellectual disability MTFMT Zornitza Stark Added gene to panel
Intellectual disability MEIS2 Zornitza Stark Added gene to panel
Intellectual disability KMT5B Zornitza Stark Added gene to panel
Intellectual disability KLHL7 Zornitza Stark Added gene to panel
Intellectual disability KIF14 Zornitza Stark Added gene to panel
Intellectual disability KCTD3 Zornitza Stark Added gene to panel
Intellectual disability ITPA Zornitza Stark Added gene to panel
Intellectual disability ISCA2 Zornitza Stark Added gene to panel
Intellectual disability INTS8 Zornitza Stark Added gene to panel
Intellectual disability INTS1 Zornitza Stark Added gene to panel
Intellectual disability HERC2 Zornitza Stark Added gene to panel
Intellectual disability HEPACAM Zornitza Stark Added gene to panel
Intellectual disability GTF3C3 Zornitza Stark Added gene to panel
Intellectual disability GRIA4 Zornitza Stark Added gene to panel
Intellectual disability GEMIN4 Zornitza Stark Added gene to panel
Intellectual disability FIBP Zornitza Stark Added gene to panel
Intellectual disability DPM2 Zornitza Stark Added gene to panel
Intellectual disability DOCK3 Zornitza Stark Added gene to panel
Intellectual disability CWC27 Zornitza Stark Added gene to panel
Intellectual disability CSNK2B Zornitza Stark Added gene to panel
Intellectual disability CNTN3 Zornitza Stark Added gene to panel
Intellectual disability CHKB Zornitza Stark Added gene to panel
Intellectual disability CDC42 Zornitza Stark Added gene to panel
Intellectual disability CCDC88A Zornitza Stark Added gene to panel
Intellectual disability AP1S1 Zornitza Stark Added gene to panel
Intellectual disability C12orf4 Zornitza Stark Added gene to panel
Intellectual disability BRF1 Zornitza Stark Added gene to panel
Intellectual disability BPTF Zornitza Stark Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty marked gene: FOXN1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ISG15 Louise Daugherty marked gene: ISG15 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ISG15 Louise Daugherty classified ISG15 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IRF8 Louise Daugherty marked gene: IRF8 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IRF8 Louise Daugherty classified IRF8 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IRF7 Louise Daugherty marked gene: IRF7 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IRF7 Louise Daugherty classified IRF7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease BCL10 Louise Daugherty marked gene: BCL10 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK4 Louise Daugherty classified IRAK4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK4 Louise Daugherty marked gene: IRAK4 as ready
Early onset or syndromic epilepsy PNPO Sarah Leigh classified PNPO as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease INO80 Louise Daugherty marked gene: INO80 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease INO80 Louise Daugherty classified INO80 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease UNC119 Eleanor Williams edited their review of gene: UNC119
Primary immunodeficiency or monogenic inflammatory bowel disease TYK2 Eleanor Williams classified TYK2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TYK2 Eleanor Williams commented on gene: TYK2
Primary immunodeficiency or monogenic inflammatory bowel disease UNC119 Eleanor Williams classified UNC119 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease UNC119 Eleanor Williams commented on gene: UNC119
Primary immunodeficiency or monogenic inflammatory bowel disease IL2RA Louise Daugherty marked gene: IL2RA as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL2RA Louise Daugherty classified IL2RA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL22 Louise Daugherty marked gene: IL22 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL22 Louise Daugherty classified IL22 as Red List (low evidence)
Intellectual disability BCKDK Zornitza Stark Added gene to panel
Intellectual disability ARV1 Zornitza Stark Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Eleanor Williams classified UNC93B1 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)
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty marked gene: IL21R as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Louise Daugherty classified IL21R 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)
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty marked gene: IL21 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease UNC93B1 Eleanor Williams commented on gene: UNC93B1
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
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Louise Daugherty commented on gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RC Louise Daugherty marked gene: IL17RC as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RC Louise Daugherty classified IL17RC as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL17F Louise Daugherty marked gene: IL17F as ready
Intellectual disability TRIM37 Zornitza Stark reviewed gene: TRIM37
Primary immunodeficiency or monogenic inflammatory bowel disease IL17F Louise Daugherty classified IL17F as Green List (high evidence)
Early onset or syndromic epilepsy STRADA Sarah Leigh classified STRADA as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL17A Louise Daugherty marked gene: IL17A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL17A Louise Daugherty classified IL17A as Red List (low evidence)
Early onset or syndromic epilepsy STRADA Sarah Leigh classified STRADA as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IL12RB1 Louise Daugherty marked gene: IL12RB1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL12RB1 Louise Daugherty classified IL12RB1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IGKC Louise Daugherty marked gene: IGKC as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IGKC Louise Daugherty commented on gene: IGKC
Early onset or syndromic epilepsy STRADA Sarah Leigh Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty marked gene: IFNGR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Louise Daugherty classified IFNGR2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR1 Louise Daugherty marked gene: IFNGR1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR1 Louise Daugherty classified IFNGR1 as Green List (high evidence)
Intellectual disability TIMM8A Zornitza Stark reviewed gene: TIMM8A
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty marked gene: IKBKB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Louise Daugherty classified IKBKB as Green List (high evidence)
Intellectual disability THAP1 Zornitza Stark reviewed gene: THAP1
Primary immunodeficiency or monogenic inflammatory bowel disease CASP8 Louise Daugherty marked gene: CASP8 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CASP8 Louise Daugherty classified CASP8 as Green List (high evidence)
Intellectual disability TGDS Zornitza Stark reviewed gene: TGDS
Primary immunodeficiency or monogenic inflammatory bowel disease USB1 Louise Daugherty marked gene: USB1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease USB1 Louise Daugherty classified USB1 as Green List (high evidence)
Intellectual disability TCF20 Zornitza Stark reviewed gene: TCF20
Primary immunodeficiency or monogenic inflammatory bowel disease ZBTB24 Louise Daugherty marked gene: ZBTB24 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CYBA Louise Daugherty marked gene: CYBA as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CYBA Louise Daugherty classified CYBA as Green List (high evidence)
Intellectual disability SLC45A1 Zornitza Stark reviewed gene: SLC45A1
Early onset or syndromic epilepsy SYN1 Sarah Leigh classified SYN1 as Green List (high evidence)
Intellectual disability SLC35A1 Zornitza Stark reviewed gene: SLC35A1
Early onset or syndromic epilepsy SYN1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SNIP1 Sarah Leigh Added gene to panel
Intellectual disability SLC25A20 Zornitza Stark reviewed gene: SLC25A20
Intellectual disability SLC22A5 Zornitza Stark reviewed gene: SLC22A5
Early onset or syndromic epilepsy SLC35A1 Sarah Leigh classified SLC35A1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy SLC35A1 Sarah Leigh Added gene to panel
Thyroid cancer pertinent cancer susceptibility WRN Ellen McDonagh classified WRN as Green List (high evidence)
Thyroid cancer pertinent cancer susceptibility WRN Ellen McDonagh Added gene to panel
Thyroid cancer pertinent cancer susceptibility RET Ellen McDonagh classified RET as Green List (high evidence)
Thyroid cancer pertinent cancer susceptibility RET Ellen McDonagh Added gene to panel
Thyroid cancer pertinent cancer susceptibility PTEN Ellen McDonagh classified PTEN as Green List (high evidence)
Thyroid cancer pertinent cancer susceptibility PTEN Ellen McDonagh Added gene to panel
Thyroid cancer pertinent cancer susceptibility PRKAR1A Ellen McDonagh classified PRKAR1A as Green List (high evidence)
Thyroid cancer pertinent cancer susceptibility PRKAR1A Ellen McDonagh Added gene to panel
Early onset or syndromic epilepsy KCNMA1 Sarah Leigh classified KCNMA1 as Red List (low evidence)
Thyroid cancer pertinent cancer susceptibility CDKN1B Ellen McDonagh classified CDKN1B as Green List (high evidence)
Thyroid cancer pertinent cancer susceptibility CDKN1B Ellen McDonagh Added gene to panel
Thyroid cancer pertinent cancer susceptibility APC Ellen McDonagh classified APC as Green List (high evidence)
Thyroid cancer pertinent cancer susceptibility APC Ellen McDonagh Added gene to panel
Intellectual disability SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8
Early onset or syndromic epilepsy GABRD Sarah Leigh classified GABRD as Red List (low evidence)
Early onset or syndromic epilepsy FTL Sarah Leigh classified FTL as Red List (low evidence)
Intellectual disability RANBP2 Zornitza Stark reviewed gene: RANBP2
Early onset or syndromic epilepsy EPM2A Sarah Leigh classified EPM2A as Green List (high evidence)
Early onset or syndromic epilepsy EFHC1 Sarah Leigh classified EFHC1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy EFHC1 Sarah Leigh classified EFHC1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy CACNA1H Sarah Leigh classified CACNA1H as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Eleanor Williams classified WIPF1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease WIPF1 Eleanor Williams commented on gene: WIPF1
Primary immunodeficiency or monogenic inflammatory bowel disease TRNT1 Sophie Hambleton reviewed gene: TRNT1
Primary immunodeficiency or monogenic inflammatory bowel disease TREX1 Sophie Hambleton reviewed gene: TREX1
Primary immunodeficiency or monogenic inflammatory bowel disease LCK Sophie Hambleton reviewed gene: LCK
Primary immunodeficiency or monogenic inflammatory bowel disease TTC7A Sophie Hambleton reviewed gene: TTC7A
Primary immunodeficiency or monogenic inflammatory bowel disease TRAC Sophie Hambleton reviewed gene: TRAC
Primary immunodeficiency or monogenic inflammatory bowel disease TPP2 Sophie Hambleton reviewed gene: TPP2
Primary immunodeficiency or monogenic inflammatory bowel disease CYBB Louise Daugherty marked gene: CYBB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty marked gene: FADD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty classified FADD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CYBB Louise Daugherty classified CYBB as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty marked gene: IKBKG as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Louise Daugherty classified IKBKG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty marked gene: DCLRE1B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty edited their review of gene: DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty classified DCLRE1B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CDCA7 Louise Daugherty marked gene: CDCA7 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CDCA7 Louise Daugherty edited their review of gene: CDCA7
Primary immunodeficiency or monogenic inflammatory bowel disease CDCA7 Louise Daugherty classified CDCA7 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease XIAP Louise Daugherty marked gene: XIAP as ready
Primary immunodeficiency or monogenic inflammatory bowel disease XIAP Louise Daugherty classified XIAP as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CARD11 Louise Daugherty marked gene: CARD11 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CARD11 Louise Daugherty classified CARD11 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease CARD11 Louise Daugherty edited their review of gene: CARD11
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty marked gene: C9 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty classified C9 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C9 Louise Daugherty edited their review of gene: C9
Primary immunodeficiency or monogenic inflammatory bowel disease CD3G Sophie Hambleton reviewed gene: CD3G
Primary immunodeficiency or monogenic inflammatory bowel disease CCBE1 Sophie Hambleton reviewed gene: CCBE1
Primary immunodeficiency or monogenic inflammatory bowel disease MCM4 Sophie Hambleton reviewed gene: MCM4
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RA Sophie Hambleton reviewed gene: IL17RA
Primary immunodeficiency or monogenic inflammatory bowel disease TMC8 Sophie Hambleton reviewed gene: TMC8
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Sophie Hambleton reviewed gene: TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF1A Sophie Hambleton reviewed gene: TNFRSF1A
Primary immunodeficiency or monogenic inflammatory bowel disease TCF3 Sophie Hambleton reviewed gene: TCF3
Primary immunodeficiency or monogenic inflammatory bowel disease LPIN2 Sophie Hambleton reviewed gene: LPIN2
Primary immunodeficiency or monogenic inflammatory bowel disease IL36RN Sophie Hambleton reviewed gene: IL36RN
Primary immunodeficiency or monogenic inflammatory bowel disease IL1RN Sophie Hambleton reviewed gene: IL1RN
Primary immunodeficiency or monogenic inflammatory bowel disease FOXP3 Sophie Hambleton reviewed gene: FOXP3
Primary immunodeficiency or monogenic inflammatory bowel disease OTULIN Sophie Hambleton reviewed gene: OTULIN
Primary immunodeficiency or monogenic inflammatory bowel disease FERMT3 Sophie Hambleton reviewed gene: FERMT3
Primary immunodeficiency or monogenic inflammatory bowel disease GATA2 Sophie Hambleton reviewed gene: GATA2
Primary immunodeficiency or monogenic inflammatory bowel disease TLR3 Sophie Hambleton reviewed gene: TLR3
Primary immunodeficiency or monogenic inflammatory bowel disease CARD9 Sophie Hambleton reviewed gene: CARD9
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RB Sophie Hambleton reviewed gene: IL10RB
Primary immunodeficiency or monogenic inflammatory bowel disease IL10RA Sophie Hambleton reviewed gene: IL10RA
Primary immunodeficiency or monogenic inflammatory bowel disease IL10 Sophie Hambleton reviewed gene: IL10
Primary immunodeficiency or monogenic inflammatory bowel disease CARD14 Sophie Hambleton reviewed gene: CARD14
Primary immunodeficiency or monogenic inflammatory bowel disease IL12B Sophie Hambleton reviewed gene: IL12B
Primary immunodeficiency or monogenic inflammatory bowel disease LAMTOR2 Sophie Hambleton reviewed gene: LAMTOR2
Primary immunodeficiency or monogenic inflammatory bowel disease KRAS Sophie Hambleton reviewed gene: KRAS
Primary immunodeficiency or monogenic inflammatory bowel disease JAGN1 Sophie Hambleton reviewed gene: JAGN1
Primary immunodeficiency or monogenic inflammatory bowel disease ITGB2 Sophie Hambleton reviewed gene: ITGB2
Primary immunodeficiency or monogenic inflammatory bowel disease ITGAM Sophie Hambleton reviewed gene: ITGAM
Primary immunodeficiency or monogenic inflammatory bowel disease ITCH Sophie Hambleton reviewed gene: ITCH
Primary immunodeficiency or monogenic inflammatory bowel disease ISG15 Sophie Hambleton reviewed gene: ISG15
Primary immunodeficiency or monogenic inflammatory bowel disease IRF8 Sophie Hambleton reviewed gene: IRF8
Primary immunodeficiency or monogenic inflammatory bowel disease IRF7 Sophie Hambleton reviewed gene: IRF7
Primary immunodeficiency or monogenic inflammatory bowel disease IRAK4 Sophie Hambleton reviewed gene: IRAK4
Primary immunodeficiency or monogenic inflammatory bowel disease INO80 Sophie Hambleton reviewed gene: INO80
Primary immunodeficiency or monogenic inflammatory bowel disease IL2RA Sophie Hambleton reviewed gene: IL2RA
Primary immunodeficiency or monogenic inflammatory bowel disease IL22 Sophie Hambleton reviewed gene: IL22
Primary immunodeficiency or monogenic inflammatory bowel disease IL21R Sophie Hambleton reviewed gene: IL21R
Primary immunodeficiency or monogenic inflammatory bowel disease IL21 Sophie Hambleton reviewed gene: IL21
Primary immunodeficiency or monogenic inflammatory bowel disease IL17RC Sophie Hambleton reviewed gene: IL17RC
Primary immunodeficiency or monogenic inflammatory bowel disease IL17F Sophie Hambleton reviewed gene: IL17F
Primary immunodeficiency or monogenic inflammatory bowel disease IL17A Sophie Hambleton reviewed gene: IL17A
Primary immunodeficiency or monogenic inflammatory bowel disease IL12RB1 Sophie Hambleton reviewed gene: IL12RB1
Primary immunodeficiency or monogenic inflammatory bowel disease IGKC Sophie Hambleton reviewed gene: IGKC
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR2 Sophie Hambleton reviewed gene: IFNGR2
Primary immunodeficiency or monogenic inflammatory bowel disease IFNGR1 Sophie Hambleton reviewed gene: IFNGR1
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKB Sophie Hambleton reviewed gene: IKBKB
Primary immunodeficiency or monogenic inflammatory bowel disease CASP8 Sophie Hambleton reviewed gene: CASP8
Primary immunodeficiency or monogenic inflammatory bowel disease USB1 Sophie Hambleton reviewed gene: USB1
Primary immunodeficiency or monogenic inflammatory bowel disease ZBTB24 Sophie Hambleton reviewed gene: ZBTB24
Primary immunodeficiency or monogenic inflammatory bowel disease CYBA Sophie Hambleton reviewed gene: CYBA
Early onset or syndromic epilepsy TPP1 Sarah Leigh classified TPP1 as Green List (high evidence)
Intellectual disability CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C8G Louise Daugherty marked gene: C8G as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C8G Louise Daugherty classified C8G as Red List (low evidence)
Intellectual disability CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Intellectual disability CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Cerebellar hypoplasia CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C8B Louise Daugherty marked gene: C8B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C8B Louise Daugherty classified C8B as Green List (high evidence)
Cerebellar hypoplasia CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Cerebellar hypoplasia CACNA1G Sarah Leigh Added gene to panel
Intellectual disability ARCN1 Zornitza Stark Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease C8B Louise Daugherty edited their review of gene: C8B
Primary immunodeficiency or monogenic inflammatory bowel disease C8A Louise Daugherty marked gene: C8A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C8A Louise Daugherty classified C8A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C8A Louise Daugherty edited their review of gene: C8A
Primary immunodeficiency or monogenic inflammatory bowel disease C7 Louise Daugherty marked gene: C7 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C7 Louise Daugherty classified C7 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C7 Louise Daugherty edited their review of gene: C7
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty marked gene: C6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty classified C6 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty edited their review of gene: C6
Intellectual disability QRICH1 Zornitza Stark reviewed gene: QRICH1
Primary immunodeficiency or monogenic inflammatory bowel disease C5 Louise Daugherty marked gene: C5 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C5 Louise Daugherty edited their review of gene: C5
Primary immunodeficiency or monogenic inflammatory bowel disease C5 Louise Daugherty classified C5 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C4B Louise Daugherty marked gene: C4B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C4B Louise Daugherty classified C4B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C4B Louise Daugherty edited their review of gene: C4B
Primary immunodeficiency or monogenic inflammatory bowel disease C4A Louise Daugherty marked gene: C4A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C4A Louise Daugherty classified C4A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C4A Louise Daugherty edited their review of gene: C4A
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty marked gene: C1S as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty edited their review of gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty classified C1S as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1R Louise Daugherty marked gene: C1R as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C1R Louise Daugherty classified C1R as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C1R Louise Daugherty classified C1R as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C1R Louise Daugherty edited their review of gene: C1R
Intellectual disability PRRT2 Zornitza Stark reviewed gene: PRRT2
Primary immunodeficiency or monogenic inflammatory bowel disease BLOC1S6 Louise Daugherty marked gene: BLOC1S6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease BLOC1S6 Louise Daugherty classified BLOC1S6 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease BCL10 Louise Daugherty classified BCL10 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease BCL10 Louise Daugherty classified BCL10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease BCL10 Louise Daugherty classified BCL10 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty marked gene: B2M as ready
Primary immunodeficiency or monogenic inflammatory bowel disease B2M Louise Daugherty classified B2M as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty marked gene: ARPC1B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty edited their review of gene: ARPC1B
Primary immunodeficiency or monogenic inflammatory bowel disease ARPC1B Louise Daugherty classified ARPC1B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ADAM17 Louise Daugherty marked gene: ADAM17 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ADAM17 Louise Daugherty commented on gene: ADAM17
Early onset or syndromic epilepsy CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ACTB Louise Daugherty marked gene: ACTB as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ACTB Louise Daugherty classified ACTB as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TICAM1 Louise Daugherty marked gene: TICAM1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FASLG Louise Daugherty marked gene: FASLG as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FAS Louise Daugherty marked gene: FAS as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DOCK2 Louise Daugherty marked gene: DOCK2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD59 Louise Daugherty marked gene: CD59 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty marked gene: ACD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty classified ACD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ACD Louise Daugherty commented on gene: ACD
Primary immunodeficiency or monogenic inflammatory bowel disease UNG Louise Daugherty marked gene: UNG as ready
Primary immunodeficiency or monogenic inflammatory bowel disease UNG Louise Daugherty classified UNG as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease UNG Louise Daugherty edited their review of gene: UNG
Intellectual disability PGM3 Zornitza Stark reviewed gene: PGM3
Intellectual disability PDGFRB Zornitza Stark reviewed gene: PDGFRB
Intellectual disability PCGF2 Zornitza Stark commented on gene: PCGF2
Intellectual disability PCGF2 Zornitza Stark reviewed gene: PCGF2
Early onset or syndromic epilepsy CACNA1G Sarah Leigh classified CACNA1G as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease XIAP Eleanor Williams commented on gene: XIAP
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Sophie Hambleton reviewed gene: FADD
Primary immunodeficiency or monogenic inflammatory bowel disease CYBB Sophie Hambleton reviewed gene: CYBB
Primary immunodeficiency or monogenic inflammatory bowel disease IKBKG Sophie Hambleton reviewed gene: IKBKG
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Sophie Hambleton reviewed gene: DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease CDCA7 Sophie Hambleton reviewed gene: CDCA7
Primary immunodeficiency or monogenic inflammatory bowel disease XIAP Sophie Hambleton reviewed gene: XIAP
Primary immunodeficiency or monogenic inflammatory bowel disease ZBTB24 Eleanor Williams classified ZBTB24 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ZBTB24 Eleanor Williams commented on gene: ZBTB24
Primary immunodeficiency or monogenic inflammatory bowel disease TMC8 Eleanor Williams classified TMC8 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TMC8 Eleanor Williams commented on gene: TMC8
Intellectual disability ORC6 Zornitza Stark reviewed gene: ORC6
Pancreatitis CPA1 Ioannis Sarantitis reviewed gene: CPA1
Pancreatitis CTRC Ioannis Sarantitis reviewed gene: CTRC
Intellectual disability ORC4 Zornitza Stark reviewed gene: ORC4
Pancreatitis CFTR Ioannis Sarantitis reviewed gene: CFTR
Pancreatitis SPINK1 Ioannis Sarantitis reviewed gene: SPINK1
Pancreatitis PRSS1 Ioannis Sarantitis reviewed gene: PRSS1
Primary immunodeficiency or monogenic inflammatory bowel disease LCK Louise Daugherty classified LCK as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease LIG1 Louise Daugherty commented on gene: LIG1
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Eleanor Williams classified TMC6 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Eleanor Williams commented on gene: TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease TNFRSF1A Sarah Leigh classified TNFRSF1A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease HPS6 Louise Daugherty classified HPS6 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease HPS6 Louise Daugherty edited their review of gene: HPS6
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty classified HPS4 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease HPS4 Louise Daugherty edited their review of gene: HPS4
Primary immunodeficiency or monogenic inflammatory bowel disease HPS1 Louise Daugherty classified HPS1 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease HPS1 Louise Daugherty edited their review of gene: HPS1
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty classified GUCY2C as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease OTULIN Sarah Leigh classified OTULIN as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease GUCY2C Louise Daugherty edited their review of gene: GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease GATA2 Louise Daugherty classified GATA2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease GATA2 Louise Daugherty edited their review of gene: GATA2
Primary immunodeficiency or monogenic inflammatory bowel disease OTULIN Sarah Leigh Added gene to panel
Intellectual disability NRXN2 Zornitza Stark reviewed gene: NRXN2