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Structural basal ganglia disorders SUCLA2 Sarah Leigh classified SUCLA2 as green
Corneal abnormalities ALDH18A1 Chris Campbell classified ALDH18A1 as green
Corneal abnormalities ALDH18A1 Chris Campbell classified ALDH18A1 as green
Paediatric motor neuronopathies SLC52A3 Pinki Munot reviewed SLC52A3
Paediatric motor neuronopathies SLC52A2 Pinki Munot reviewed SLC52A2
Structural basal ganglia disorders SERAC1 Sarah Leigh classified SERAC1 as green
Structural basal ganglia disorders SDHA Sarah Leigh classified SDHA as green
Paediatric motor neuronopathies IGHMBP2 Pinki Munot reviewed IGHMBP2
Structural basal ganglia disorders PDHA1 Sarah Leigh classified PDHA1 as green
Structural basal ganglia disorders PDP1 Sarah Leigh marked PDP1 as ready
Structural basal ganglia disorders PDP1 Sarah Leigh commented on PDP1
Paediatric motor neuronopathies EXOSC3 Pinki Munot reviewed EXOSC3
Severe microcephaly Rebecca Foulger promoted panel to version 1
Paediatric motor neuronopathies DYNC1H1 Pinki Munot reviewed DYNC1H1
Structural basal ganglia disorders PDP1 Sarah Leigh classified PDP1 as green
Paediatric motor neuronopathies CHCHD10 Pinki Munot reviewed CHCHD10
Structural basal ganglia disorders NDUFV1 Sarah Leigh commented on NDUFV1
Structural basal ganglia disorders NDUFV1 Sarah Leigh marked NDUFV1 as ready
Structural basal ganglia disorders NDUFV1 Sarah Leigh classified NDUFV1 as green
Severe microcephaly DIAPH1 Rebecca Foulger classified DIAPH1 as green
Structural basal ganglia disorders NDUFS8 Sarah Leigh marked NDUFS8 as ready
Structural basal ganglia disorders NDUFS8 Sarah Leigh commented on NDUFS8
Structural basal ganglia disorders NDUFS8 Sarah Leigh classified NDUFS8 as green
Structural basal ganglia disorders NDUFS7 Sarah Leigh marked NDUFS7 as ready
Structural basal ganglia disorders NDUFS7 Sarah Leigh commented on NDUFS7
Structural basal ganglia disorders NDUFS7 Sarah Leigh classified NDUFS7 as green
Severe microcephaly SMC1A Rebecca Foulger classified SMC1A as green
Paediatric motor neuronopathies BICD2 Pinki Munot edited their review of BICD2
Paediatric motor neuronopathies BICD2 Pinki Munot edited their review of BICD2
Paediatric motor neuronopathies BICD2 Pinki Munot reviewed BICD2
Structural basal ganglia disorders NDUFS4 Sarah Leigh marked NDUFS4 as ready
Structural basal ganglia disorders NDUFS4 Sarah Leigh commented on NDUFS4
Paediatric motor neuronopathies ASAH1 Pinki Munot reviewed ASAH1
Structural basal ganglia disorders NDUFS4 Sarah Leigh classified NDUFS4 as green
Structural basal ganglia disorders NDUFS3 Sarah Leigh commented on NDUFS3
Structural basal ganglia disorders NDUFS3 Sarah Leigh classified NDUFS3 as red
Paediatric motor neuronopathies AR Pinki Munot reviewed AR
Structural basal ganglia disorders NDUFAF2 Sarah Leigh marked NDUFAF2 as ready
Structural basal ganglia disorders NDUFAF2 Sarah Leigh commented on NDUFAF2
Severe microcephaly SMC1A Rebecca Foulger commented on SMC1A
Severe microcephaly SMC1A Rebecca Foulger edited their review of SMC1A
Structural basal ganglia disorders NDUFAF2 Sarah Leigh classified NDUFAF2 as green
Severe microcephaly DPP6 Rebecca Foulger classified DPP6 as green
Cytopenias and congenital anaemias HBG2 Louise Daugherty commented on HBG2
Cytopenias and congenital anaemias HBG2 Louise Daugherty classified HBG2 as amber
Cytopenias and congenital anaemias HBG1 Louise Daugherty classified HBG1 as amber
Cytopenias and congenital anaemias HBB Louise Daugherty classified HBB as amber
Structural basal ganglia disorders NDUFA1 Sarah Leigh edited their review of NDUFA1
Structural basal ganglia disorders NDUFA1 Sarah Leigh classified NDUFA1 as green
Cytopenias and congenital anaemias HBA2 Louise Daugherty classified HBA2 as amber
Cytopenias and congenital anaemias HBA2 Louise Daugherty commented on HBA2
Cytopenias and congenital anaemias HBA1 Louise Daugherty classified HBA1 as amber
Cytopenias and congenital anaemias HBA1 Louise Daugherty commented on HBA1
Structural basal ganglia disorders NDUFA1 Sarah Leigh commented on NDUFA1
Structural basal ganglia disorders MT-ND6 Sarah Leigh classified MT-ND6 as green
Structural basal ganglia disorders MT-ND6 Sarah Leigh commented on MT-ND6
Structural basal ganglia disorders MT-ND6 Sarah Leigh classified MT-ND6 as green
Structural basal ganglia disorders MT-ND1 Sarah Leigh classified MT-ND1 as green
Structural basal ganglia disorders MT-ND1 Sarah Leigh commented on MT-ND1
Structural basal ganglia disorders MT-ATP6 Sarah Leigh classified MT-ATP6 as green
Structural basal ganglia disorders HIBCH Sarah Leigh marked HIBCH as ready
Structural basal ganglia disorders HIBCH Sarah Leigh commented on HIBCH
Structural basal ganglia disorders ETHE1 Sarah Leigh commented on ETHE1
Structural basal ganglia disorders ETHE1 Sarah Leigh marked ETHE1 as ready
Structural basal ganglia disorders ETHE1 Sarah Leigh classified ETHE1 as green
Structural basal ganglia disorders DLAT Sarah Leigh marked DLAT as ready
Structural basal ganglia disorders DLAT Sarah Leigh commented on DLAT
Severe microcephaly HDAC8 Rebecca Foulger classified HDAC8 as green
Severe microcephaly HDAC8 Rebecca Foulger commented on HDAC8
Severe microcephaly HDAC8 Rebecca Foulger commented on HDAC8
Severe microcephaly NIPBL Rebecca Foulger classified NIPBL as green
Severe microcephaly NIPBL Rebecca Foulger commented on NIPBL
Structural basal ganglia disorders DLAT Sarah Leigh classified DLAT as green
Structural basal ganglia disorders COX15 Sarah Leigh marked COX15 as ready
Structural basal ganglia disorders COX15 Sarah Leigh commented on COX15
Structural basal ganglia disorders COX15 Sarah Leigh classified COX15 as green
Structural basal ganglia disorders COX10 Sarah Leigh marked COX10 as ready
Structural basal ganglia disorders COX10 Sarah Leigh commented on COX10
Structural basal ganglia disorders COX10 Sarah Leigh classified COX10 as green
Structural basal ganglia disorders COX10 Sarah Leigh classified COX10 as amber
Severe microcephaly SMC1A Rebecca Foulger commented on SMC1A
Severe microcephaly SMC3 Rebecca Foulger classified SMC3 as green
Severe microcephaly SMC3 Rebecca Foulger commented on SMC3
Structural basal ganglia disorders C19orf12 Sarah Leigh classified C19orf12 as green
Structural basal ganglia disorders BCS1L Sarah Leigh classified BCS1L as green
Severe microcephaly RAD21 Rebecca Foulger classified RAD21 as green
Severe microcephaly RAD21 Rebecca Foulger commented on RAD21
Severe microcephaly RAD21 Rebecca Foulger commented on RAD21
Severe microcephaly RAD21 Rebecca Foulger commented on RAD21
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6
Severe microcephaly POC1A Rebecca Foulger classified POC1A as green
Cytopenias and congenital anaemias KIF23 Louise Daugherty commented on KIF23
Cytopenias and congenital anaemias PFKM Louise Daugherty classified PFKM as green
Severe microcephaly DYRK1A Rebecca Foulger commented on DYRK1A
Severe microcephaly DYRK1A Rebecca Foulger classified DYRK1A as green
Severe microcephaly DYRK1A Rebecca Foulger commented on DYRK1A
Severe microcephaly DYRK1A Rebecca Foulger commented on DYRK1A
Cytopenias and congenital anaemias PFKM Louise Daugherty commented on PFKM
Severe microcephaly CTNNB1 Rebecca Foulger classified CTNNB1 as green
Severe microcephaly CTNNB1 Rebecca Foulger commented on CTNNB1
Cytopenias and congenital anaemias GSR Helen Brittain marked GSR as ready
Cytopenias and congenital anaemias GSR Helen Brittain reviewed GSR
Cytopenias and congenital anaemias GPX1 Helen Brittain marked GPX1 as ready
Cytopenias and congenital anaemias GPX1 Helen Brittain reviewed GPX1
Cytopenias and congenital anaemias GCLC Helen Brittain marked GCLC as ready
Cytopenias and congenital anaemias GCLC Helen Brittain reviewed GCLC
Cytopenias and congenital anaemias GPI Helen Brittain marked GPI as ready
Cytopenias and congenital anaemias GPI Helen Brittain classified GPI as amber
Cytopenias and congenital anaemias GPI Helen Brittain reviewed GPI
Severe microcephaly RBBP8 Rebecca Foulger classified RBBP8 as green
Cytopenias and congenital anaemias CBL Ellen McDonagh classified CBL as amber
Cytopenias and congenital anaemias CBL Ellen McDonagh commented on CBL
Cytopenias and congenital anaemias CBL Ellen McDonagh classified CBL as amber
Structural basal ganglia disorders NDUFV1 Manju Kurian added NDUFV1 to panel
Structural basal ganglia disorders NDUFV1 Manju Kurian reviewed NDUFV1
Structural basal ganglia disorders MT-ND1 Manju Kurian added MT-ND1 to panel
Structural basal ganglia disorders MT-ND1 Manju Kurian reviewed MT-ND1
Structural basal ganglia disorders MT-ND6 Manju Kurian added MT-ND6 to panel
Structural basal ganglia disorders MT-ND6 Manju Kurian reviewed MT-ND6
Structural basal ganglia disorders MT-ATP6 Manju Kurian added MT-ATP6 to panel
Structural basal ganglia disorders MT-ATP6 Manju Kurian reviewed MT-ATP6
Cytopenias and congenital anaemias BRCA1 Ellen McDonagh classified BRCA1 as red
Structural basal ganglia disorders SERAC1 Manju Kurian added SERAC1 to panel
Structural basal ganglia disorders SERAC1 Manju Kurian reviewed SERAC1
Structural basal ganglia disorders NDUFAF2 Manju Kurian edited their review of NDUFAF2
Structural basal ganglia disorders NDUFAF2 Manju Kurian added NDUFAF2 to panel
Structural basal ganglia disorders NDUFAF2 Manju Kurian reviewed NDUFAF2
Structural basal ganglia disorders MECR Manju Kurian added MECR to panel
Structural basal ganglia disorders MECR Manju Kurian reviewed MECR
Structural basal ganglia disorders DCAF10 Manju Kurian added DCAF10 to panel
Structural basal ganglia disorders DCAF10 Manju Kurian reviewed DCAF10
Structural basal ganglia disorders ATP13A2 Manju Kurian added ATP13A2 to panel
Structural basal ganglia disorders ATP13A2 Manju Kurian reviewed ATP13A2
Structural basal ganglia disorders CP Manju Kurian added CP to panel
Structural basal ganglia disorders CP Manju Kurian reviewed CP
Structural basal ganglia disorders HTT Manju Kurian added HTT to panel
Structural basal ganglia disorders HTT Manju Kurian reviewed HTT
Structural basal ganglia disorders ATP7B Manju Kurian added ATP7B to panel
Structural basal ganglia disorders ATP7B Manju Kurian reviewed ATP7B
Structural basal ganglia disorders HEXA Manju Kurian reviewed HEXA
Structural basal ganglia disorders HEXA Manju Kurian added HEXA to panel
Structural basal ganglia disorders HEXA Manju Kurian reviewed HEXA
Structural basal ganglia disorders GFAP Manju Kurian added GFAP to panel
Structural basal ganglia disorders GFAP Manju Kurian reviewed GFAP
Structural basal ganglia disorders SUOX Manju Kurian added SUOX to panel
Structural basal ganglia disorders SUOX Manju Kurian reviewed SUOX
Structural basal ganglia disorders SLC25A19 Manju Kurian added SLC25A19 to panel
Structural basal ganglia disorders SLC25A19 Manju Kurian reviewed SLC25A19
Structural basal ganglia disorders PDP1 Manju Kurian added PDP1 to panel
Structural basal ganglia disorders PDP1 Manju Kurian reviewed PDP1
Structural basal ganglia disorders PDX1 Manju Kurian added PDX1 to panel
Structural basal ganglia disorders PDX1 Manju Kurian reviewed PDX1
Structural basal ganglia disorders DLAT Manju Kurian added DLAT to panel
Structural basal ganglia disorders DLAT Manju Kurian reviewed DLAT
Structural basal ganglia disorders NDUFS7 Manju Kurian added NDUFS7 to panel
Structural basal ganglia disorders NDUFS7 Manju Kurian reviewed NDUFS7
Structural basal ganglia disorders COX10 Manju Kurian added COX10 to panel
Structural basal ganglia disorders COX10 Manju Kurian reviewed COX10
Structural basal ganglia disorders NDUFA1 Manju Kurian added NDUFA1 to panel
Structural basal ganglia disorders NDUFA1 Manju Kurian reviewed NDUFA1
Structural basal ganglia disorders NDUFA9 Manju Kurian added NDUFA9 to panel
Structural basal ganglia disorders NDUFA9 Manju Kurian reviewed NDUFA9
Cytopenias and congenital anaemias BRCA1 Ellen McDonagh classified BRCA1 as amber
Cytopenias and congenital anaemias BRCA1 Ellen McDonagh commented on BRCA1
Structural basal ganglia disorders NDUFS8 Manju Kurian added NDUFS8 to panel
Structural basal ganglia disorders NDUFS8 Manju Kurian reviewed NDUFS8
Structural basal ganglia disorders NDUFS3 Manju Kurian added NDUFS3 to panel
Structural basal ganglia disorders NDUFS3 Manju Kurian reviewed NDUFS3
Structural basal ganglia disorders COX15 Manju Kurian added COX15 to panel
Structural basal ganglia disorders COX15 Manju Kurian reviewed COX15
Structural basal ganglia disorders SURF1 Manju Kurian added SURF1 to panel
Structural basal ganglia disorders SURF1 Manju Kurian reviewed SURF1
Structural basal ganglia disorders NDUFAF6 Manju Kurian added NDUFAF6 to panel
Structural basal ganglia disorders NDUFAF6 Manju Kurian reviewed NDUFAF6
Structural basal ganglia disorders NDUFA2 Manju Kurian added NDUFA2 to panel
Structural basal ganglia disorders NDUFA2 Manju Kurian reviewed NDUFA2
Structural basal ganglia disorders NDUFS4 Manju Kurian added NDUFS4 to panel
Structural basal ganglia disorders NDUFS4 Manju Kurian reviewed NDUFS4
Structural basal ganglia disorders SDHA Manju Kurian added SDHA to panel
Structural basal ganglia disorders SDHA Manju Kurian reviewed SDHA
Structural basal ganglia disorders NDUFA10 Manju Kurian added NDUFA10 to panel
Structural basal ganglia disorders NDUFA10 Manju Kurian reviewed NDUFA10
Structural basal ganglia disorders BCS1L Manju Kurian added BCS1L to panel
Structural basal ganglia disorders BCS1L Manju Kurian reviewed BCS1L
Structural basal ganglia disorders ETHE1 Manju Kurian added ETHE1 to panel
Structural basal ganglia disorders ETHE1 Manju Kurian reviewed ETHE1
Structural basal ganglia disorders SUCLG1 Manju Kurian added SUCLG1 to panel
Structural basal ganglia disorders SUCLG1 Manju Kurian reviewed SUCLG1
Structural basal ganglia disorders SUCLA2 Manju Kurian added SUCLA2 to panel
Structural basal ganglia disorders SUCLA2 Manju Kurian reviewed SUCLA2
Structural basal ganglia disorders IVD Manju Kurian added IVD to panel
Structural basal ganglia disorders IVD Manju Kurian reviewed IVD
Structural basal ganglia disorders PCCA Manju Kurian added PCCA to panel
Structural basal ganglia disorders PCCA Manju Kurian reviewed PCCA
Structural basal ganglia disorders PCCB Manju Kurian added PCCB to panel
Structural basal ganglia disorders PCCB Manju Kurian reviewed PCCB
Structural basal ganglia disorders MUT Manju Kurian added MUT to panel
Structural basal ganglia disorders MUT Manju Kurian reviewed MUT
Cytopenias and congenital anaemias BRAF Ellen McDonagh marked BRAF as ready
Structural basal ganglia disorders GCDH Manju Kurian added GCDH to panel
Structural basal ganglia disorders GCDH Manju Kurian reviewed GCDH
Cytopenias and congenital anaemias BRAF Ellen McDonagh commented on BRAF
Structural basal ganglia disorders ADAR Manju Kurian added ADAR to panel
Structural basal ganglia disorders ADAR Manju Kurian reviewed ADAR
Structural basal ganglia disorders VAC14 Manju Kurian added VAC14 to panel
Structural basal ganglia disorders VAC14 Manju Kurian reviewed VAC14
Structural basal ganglia disorders NUP62 Manju Kurian added NUP62 to panel
Structural basal ganglia disorders NUP62 Manju Kurian reviewed NUP62
Structural basal ganglia disorders KMT2B Manju Kurian added KMT2B to panel
Structural basal ganglia disorders KMT2B Manju Kurian reviewed KMT2B
Structural basal ganglia disorders SLC30A10 Manju Kurian added SLC30A10 to panel
Structural basal ganglia disorders SLC30A10 Manju Kurian reviewed SLC30A10
Structural basal ganglia disorders SLC39A14 Manju Kurian added SLC39A14 to panel
Structural basal ganglia disorders SLC39A14 Manju Kurian reviewed SLC39A14
Structural basal ganglia disorders C19orf12 Manju Kurian added C19orf12 to panel
Structural basal ganglia disorders C19orf12 Manju Kurian reviewed C19orf12
Structural basal ganglia disorders FA2H Manju Kurian added FA2H to panel
Structural basal ganglia disorders FA2H Manju Kurian reviewed FA2H
Structural basal ganglia disorders COASY Manju Kurian added COASY to panel
Structural basal ganglia disorders COASY Manju Kurian reviewed COASY
Structural basal ganglia disorders WDR45 Manju Kurian added WDR45 to panel
Structural basal ganglia disorders WDR45 Manju Kurian reviewed WDR45
Structural basal ganglia disorders PLA2G6 Manju Kurian added PLA2G6 to panel
Structural basal ganglia disorders PLA2G6 Manju Kurian reviewed PLA2G6
Structural basal ganglia disorders XPR1 Manju Kurian reviewed XPR1
Cytopenias and congenital anaemias NT5C3A Louise Daugherty classified NT5C3A as green
Cytopenias and congenital anaemias NT5C3A Louise Daugherty commented on NT5C3A
Structural basal ganglia disorders RAB39B Manju Kurian reviewed RAB39B
Structural basal ganglia disorders PDGFB Manju Kurian reviewed PDGFB
Structural basal ganglia disorders PANK2 Manju Kurian reviewed PANK2
Structural basal ganglia disorders ISG15 Manju Kurian reviewed ISG15
Structural basal ganglia disorders IFIH1 Manju Kurian reviewed IFIH1
Structural basal ganglia disorders HIBCH Manju Kurian reviewed HIBCH
Structural basal ganglia disorders VPS13A Manju Kurian reviewed VPS13A
Structural basal ganglia disorders PDHA1 Manju Kurian reviewed PDHA1
Structural basal ganglia disorders PDGFRB Manju Kurian reviewed PDGFRB
Structural basal ganglia disorders OCLN Manju Kurian reviewed OCLN
Cytopenias and congenital anaemias HK1 Louise Daugherty marked HK1 as ready
Cytopenias and congenital anaemias HK1 Louise Daugherty classified HK1 as green
Cytopenias and congenital anaemias HK1 Louise Daugherty commented on HK1
Cytopenias and congenital anaemias DNMT3A Ellen McDonagh marked DNMT3A as ready
Cytopenias and congenital anaemias DNMT3A Ellen McDonagh classified DNMT3A as red
Cytopenias and congenital anaemias DNMT3A Ellen McDonagh commented on DNMT3A
Cytopenias and congenital anaemias BCORL1 Ellen McDonagh marked BCORL1 as ready
Cytopenias and congenital anaemias BCORL1 Ellen McDonagh classified BCORL1 as red
Cytopenias and congenital anaemias BCORL1 Ellen McDonagh commented on BCORL1
Cytopenias and congenital anaemias BCOR Ellen McDonagh marked BCOR as ready
Cytopenias and congenital anaemias BCOR Ellen McDonagh commented on BCOR
Cytopenias and congenital anaemias BCOR Ellen McDonagh commented on BCOR
Cytopenias and congenital anaemias HBG1 Louise Daugherty commented on HBG1
Cytopenias and congenital anaemias PIGA Ellen McDonagh commented on PIGA
Structural basal ganglia disorders PDE10A Manju Kurian edited their review of PDE10A
Structural basal ganglia disorders PDE10A Manju Kurian reviewed PDE10A
Structural basal ganglia disorders TUBB4A Manju Kurian reviewed TUBB4A
Structural basal ganglia disorders BDNF Manju Kurian reviewed BDNF
Structural basal ganglia disorders AP1S2 Manju Kurian reviewed AP1S2
Structural basal ganglia disorders AIFM1 Manju Kurian reviewed AIFM1
Structural basal ganglia disorders TUBA1A Manju Kurian reviewed TUBA1A
Structural basal ganglia disorders TOR1A Manju Kurian reviewed TOR1A
Structural basal ganglia disorders SLC20A2 Manju Kurian reviewed SLC20A2
Structural basal ganglia disorders SLC19A3 Manju Kurian reviewed SLC19A3
Structural basal ganglia disorders PRNP Manju Kurian reviewed PRNP
Structural basal ganglia disorders FTL Manju Kurian reviewed FTL
Structural basal ganglia disorders FOXP2 Manju Kurian reviewed FOXP2
Neurotransmitter disorders PITX3 Manju Kurian added PITX3 to panel
Neurotransmitter disorders PITX3 Manju Kurian reviewed PITX3
Neurotransmitter disorders DNAJC12 Manju Kurian added DNAJC12 to panel
Neurotransmitter disorders DNAJC12 Manju Kurian reviewed DNAJC12
Neurotransmitter disorders DHFR Manju Kurian added DHFR to panel
Neurotransmitter disorders DHFR Manju Kurian reviewed DHFR
Neurotransmitter disorders FOLR1 Manju Kurian added FOLR1 to panel
Neurotransmitter disorders FOLR1 Manju Kurian reviewed FOLR1
Neurotransmitter disorders SLC18A2 Manju Kurian added SLC18A2 to panel
Neurotransmitter disorders SLC18A2 Manju Kurian reviewed SLC18A2
Neurotransmitter disorders SLC6A3 Manju Kurian added SLC6A3 to panel
Neurotransmitter disorders SLC6A3 Manju Kurian reviewed SLC6A3
Neurotransmitter disorders MAOA Manju Kurian added MAOA to panel
Neurotransmitter disorders MAOA Manju Kurian reviewed MAOA
Cytopenias and congenital anaemias HBB Louise Daugherty classified HBB as green
Undiagnosed metabolic disorders PREPL Ellen McDonagh commented on PREPL
Undiagnosed metabolic disorders PIGM Ellen McDonagh commented on PIGM
Undiagnosed metabolic disorders PDPR Ellen McDonagh commented on PDPR
Neurotransmitter disorders DBH Manju Kurian added DBH to panel
Neurotransmitter disorders DBH Manju Kurian reviewed DBH
Neurotransmitter disorders TH Manju Kurian added TH to panel
Neurotransmitter disorders TH Manju Kurian reviewed TH
Neurotransmitter disorders DDC Manju Kurian added DDC to panel
Neurotransmitter disorders DDC Manju Kurian reviewed DDC
Neurotransmitter disorders QDPR Manju Kurian added QDPR to panel
Neurotransmitter disorders QDPR Manju Kurian reviewed QDPR
Neurotransmitter disorders PTS Manju Kurian added PTS to panel
Neurotransmitter disorders PTS Manju Kurian reviewed PTS
Neurotransmitter disorders SPR Manju Kurian added SPR to panel
Neurotransmitter disorders SPR Manju Kurian reviewed SPR
Neurotransmitter disorders GCH1 Manju Kurian added GCH1 to panel
Neurotransmitter disorders GCH1 Manju Kurian reviewed GCH1
Severe microcephaly ZNF335 Rebecca Foulger classified ZNF335 as amber
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Cytopenias and congenital anaemias HBB Louise Daugherty classified HBB as red
Cytopenias and congenital anaemias HBB Louise Daugherty commented on HBB
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Congenital myaesthenic syndrome MYO9A Rebecca Foulger classified MYO9A as amber
Intellectual disability PRODH Sarah Leigh classified PRODH as green
Intellectual disability PRODH Sarah Leigh commented on PRODH
Intellectual disability PRODH Sarah Leigh classified PRODH as green
Cytopenias and congenital anaemias G6PD Louise Daugherty marked G6PD as ready
Cytopenias and congenital anaemias KLF1 Louise Daugherty marked KLF1 as ready
Cytopenias and congenital anaemias SEC23B Louise Daugherty marked SEC23B as ready
Cytopenias and congenital anaemias SEC23B Louise Daugherty commented on SEC23B
Cytopenias and congenital anaemias TMPRSS6 Louise Daugherty marked TMPRSS6 as ready
Cytopenias and congenital anaemias TMPRSS6 Louise Daugherty commented on TMPRSS6
Cytopenias and congenital anaemias ANK1 Louise Daugherty marked ANK1 as ready
Cytopenias and congenital anaemias ANK1 Louise Daugherty classified ANK1 as green
Cytopenias and congenital anaemias AMN Helen Brittain marked AMN as ready
Cytopenias and congenital anaemias AMN Helen Brittain classified AMN as green
Cytopenias and congenital anaemias YARS2 Helen Brittain marked YARS2 as ready
Cytopenias and congenital anaemias YARS2 Helen Brittain classified YARS2 as green
Cytopenias and congenital anaemias WAS Helen Brittain marked WAS as ready
Cytopenias and congenital anaemias WAS Helen Brittain classified WAS as green
Cytopenias and congenital anaemias SLX4 Helen Brittain marked SLX4 as ready
Cytopenias and congenital anaemias SLX4 Helen Brittain classified SLX4 as green
Cytopenias and congenital anaemias SLC25A38 Helen Brittain marked SLC25A38 as ready
Cytopenias and congenital anaemias SLC25A38 Helen Brittain classified SLC25A38 as green
Cytopenias and congenital anaemias SLC19A2 Helen Brittain marked SLC19A2 as ready
Cytopenias and congenital anaemias SLC19A2 Helen Brittain classified SLC19A2 as green
Cytopenias and congenital anaemias SLC11A2 Helen Brittain marked SLC11A2 as ready
Cytopenias and congenital anaemias SLC11A2 Helen Brittain classified SLC11A2 as green
Cytopenias and congenital anaemias SBDS Helen Brittain marked SBDS as ready
Childhood solid tumours FANCM Rebecca Foulger classified FANCM as red
Cytopenias and congenital anaemias SBDS Helen Brittain classified SBDS as green
Childhood solid tumours FANCM Rebecca Foulger commented on FANCM
Childhood solid tumours FANCM Rebecca Foulger commented on FANCM
Cytopenias and congenital anaemias RTEL1 Helen Brittain marked RTEL1 as ready
Neurofibromatosis Type 1 FANCM Rebecca Foulger classified FANCM as red
Neurofibromatosis Type 1 FANCM Rebecca Foulger commented on FANCM
Cytopenias and congenital anaemias RTEL1 Helen Brittain classified RTEL1 as green
Neurofibromatosis Type 1 FANCM Rebecca Foulger commented on FANCM
Cytopenias and congenital anaemias RPS17 Helen Brittain marked RPS17 as ready
Cytopenias and congenital anaemias RPS17 Helen Brittain classified RPS17 as green
Cytopenias and congenital anaemias RBM8A Helen Brittain marked RBM8A as ready
IUGR and IGF abnormalities FANCM Rebecca Foulger classified FANCM as red
Cytopenias and congenital anaemias ANK1 Louise Daugherty commented on ANK1
IUGR and IGF abnormalities FANCM Rebecca Foulger commented on FANCM
IUGR and IGF abnormalities FANCM Rebecca Foulger commented on FANCM
Cytopenias and congenital anaemias RBM8A Helen Brittain classified RBM8A as red
Cytopenias and congenital anaemias PUS1 Helen Brittain marked PUS1 as ready
Cytopenias and congenital anaemias PUS1 Helen Brittain classified PUS1 as green
Cytopenias and congenital anaemias PALB2 Helen Brittain marked PALB2 as ready
Cytopenias and congenital anaemias PALB2 Helen Brittain classified PALB2 as green
Cytopenias and congenital anaemias MASTL Helen Brittain marked MASTL as ready
Cytopenias and congenital anaemias MASTL Helen Brittain classified MASTL as red
Cytopenias and congenital anaemias GATA1 Helen Brittain marked GATA1 as ready
Cytopenias and congenital anaemias GATA1 Helen Brittain classified GATA1 as green
Cytopenias and congenital anaemias FANCM Helen Brittain marked FANCM as ready
Cytopenias and congenital anaemias FANCM Helen Brittain classified FANCM as red
Cytopenias and congenital anaemias FANCL Helen Brittain marked FANCL as ready
Cytopenias and congenital anaemias FANCL Helen Brittain classified FANCL as green
Cytopenias and congenital anaemias FANCI Helen Brittain marked FANCI as ready
Cytopenias and congenital anaemias FANCI Helen Brittain classified FANCI as green
Cytopenias and congenital anaemias CALR Louise Daugherty marked CALR as ready
Cytopenias and congenital anaemias FANCG Helen Brittain marked FANCG as ready
Cytopenias and congenital anaemias FANCG Helen Brittain classified FANCG as green
Cytopenias and congenital anaemias FANCF Helen Brittain marked FANCF as ready
Cytopenias and congenital anaemias FANCF Helen Brittain classified FANCF as green
Cytopenias and congenital anaemias FANCE Helen Brittain marked FANCE as ready
Cytopenias and congenital anaemias FANCE Helen Brittain classified FANCE as green
Cytopenias and congenital anaemias FANCD2 Helen Brittain marked FANCD2 as ready
Cytopenias and congenital anaemias FANCD2 Helen Brittain classified FANCD2 as green
Cytopenias and congenital anaemias FANCC Helen Brittain marked FANCC as ready
Cytopenias and congenital anaemias FANCC Helen Brittain classified FANCC as green
Cytopenias and congenital anaemias CALR Louise Daugherty edited their review of CALR
Cytopenias and congenital anaemias CALR Louise Daugherty commented on CALR
Cytopenias and congenital anaemias FANCA Helen Brittain marked FANCA as ready
Cytopenias and congenital anaemias FANCA Helen Brittain classified FANCA as green
Cytopenias and congenital anaemias ELANE Helen Brittain marked ELANE as ready
Cytopenias and congenital anaemias ELANE Helen Brittain classified ELANE as green
Cytopenias and congenital anaemias CYCS Helen Brittain marked CYCS as ready
Cytopenias and congenital anaemias CYCS Helen Brittain classified CYCS as red
Cytopenias and congenital anaemias CUBN Helen Brittain marked CUBN as ready
Cytopenias and congenital anaemias CUBN Helen Brittain classified CUBN as green
Cytopenias and congenital anaemias CTC1 Helen Brittain marked CTC1 as ready
Cytopenias and congenital anaemias CTC1 Helen Brittain classified CTC1 as green
Cytopenias and congenital anaemias CDAN1 Helen Brittain marked CDAN1 as ready
Cytopenias and congenital anaemias CDAN1 Helen Brittain classified CDAN1 as green
Cytopenias and congenital anaemias BRIP1 Helen Brittain marked BRIP1 as ready
Cytopenias and congenital anaemias BRIP1 Helen Brittain classified BRIP1 as green
Cytopenias and congenital anaemias BRCA2 Helen Brittain marked BRCA2 as ready
Cytopenias and congenital anaemias BRCA2 Helen Brittain classified BRCA2 as green
Cytopenias and congenital anaemias BAAT Helen Brittain marked BAAT as ready
Cytopenias and congenital anaemias BAAT Helen Brittain classified BAAT as red
Cytopenias and congenital anaemias ALAS2 Helen Brittain marked ALAS2 as ready
Cytopenias and congenital anaemias ALAS2 Helen Brittain classified ALAS2 as green
Cytopenias and congenital anaemias ANKRD26 Helen Brittain marked ANKRD26 as ready
Cytopenias and congenital anaemias ANKRD26 Helen Brittain classified ANKRD26 as red
Cytopenias and congenital anaemias ABCB7 Helen Brittain marked ABCB7 as ready
Cytopenias and congenital anaemias ABCB7 Helen Brittain classified ABCB7 as green
Undiagnosed metabolic disorders HYAL1 Sarah Leigh classified HYAL1 as green
Undiagnosed metabolic disorders HSD3B7 Sarah Leigh commented on HSD3B7
Cytopenias and congenital anaemias CXCR4 Louise Daugherty marked CXCR4 as ready
Cytopenias and congenital anaemias CXCR4 Louise Daugherty classified CXCR4 as green
Cytopenias and congenital anaemias CXCR4 Louise Daugherty commented on CXCR4
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Cytopenias and congenital anaemias YARS2 Helen Brittain reviewed YARS2
Cytopenias and congenital anaemias SLC19A2 Helen Brittain reviewed SLC19A2
Cytopenias and congenital anaemias PUS1 Helen Brittain reviewed PUS1
Cytopenias and congenital anaemias MASTL Helen Brittain reviewed MASTL
Undiagnosed metabolic disorders DPYD Sarah Leigh commented on DPYD
Severe microcephaly WDR4 Rebecca Foulger commented on WDR4
Cytopenias and congenital anaemias CYCS Helen Brittain reviewed CYCS
Undiagnosed metabolic disorders DBH Sarah Leigh commented on DBH
Undiagnosed metabolic disorders DBH Sarah Leigh classified DBH as green
Cytopenias and congenital anaemias AMN Helen Brittain reviewed AMN
Severe microcephaly TRMT10A Rebecca Foulger classified TRMT10A as green
Cytopenias and congenital anaemias CSF3R Louise Daugherty marked CSF3R as ready
Cytopenias and congenital anaemias CSF3R Louise Daugherty classified CSF3R as green
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Cytopenias and congenital anaemias CUBN Helen Brittain reviewed CUBN
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Intellectual disability CNNM2 Sarah Leigh classified CNNM2 as green
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Intellectual disability CNNM2 Sarah Leigh added CNNM2 to panel
Intellectual disability CNNM2 Sarah Leigh reviewed CNNM2
Cytopenias and congenital anaemias COX4I2 Helen Brittain reviewed COX4I2
Cytopenias and congenital anaemias CSF3R Louise Daugherty commented on CSF3R
Cytopenias and congenital anaemias BAAT Helen Brittain reviewed BAAT
Severe microcephaly RBBP8 Rebecca Foulger commented on RBBP8
Severe microcephaly RBBP8 Rebecca Foulger commented on RBBP8
Cytopenias and congenital anaemias ANKRD26 Helen Brittain reviewed ANKRD26
Nephrocalcinosis or nephrolithiasis APRT Sarah Leigh classified APRT as green
Nephrocalcinosis or nephrolithiasis APRT Sarah Leigh commented on APRT
Severe microcephaly RBBP8 Rebecca Foulger commented on RBBP8
Severe microcephaly RBBP8 Rebecca Foulger commented on RBBP8
Cytopenias and congenital anaemias FANCM Helen Brittain reviewed FANCM
Severe hypertriglyceridaemia APOC2 Sarah Leigh commented on APOC2
Severe hypertriglyceridaemia APOC2 Sarah Leigh marked APOC2 as ready
Severe hypertriglyceridaemia APOC2 Sarah Leigh classified APOC2 as green
Periodic fever syndromes APOC2 Sarah Leigh commented on APOC2
Familial hypercholesterolaemia APOC2 Sarah Leigh marked APOC2 as ready
Familial hypercholesterolaemia APOA5 Sarah Leigh edited their review of APOA5
Severe hypertriglyceridaemia APOA5 Sarah Leigh edited their review of APOA5
Familial hypercholesterolaemia APOA5 Sarah Leigh commented on APOA5
Severe hypertriglyceridaemia APOA5 Sarah Leigh commented on APOA5
Intellectual disability ABHD5 Sarah Leigh classified ABHD5 as green
Intellectual disability ABHD5 Sarah Leigh commented on ABHD5
Cytopenias and congenital anaemias ENO1 Louise Daugherty marked ENO1 as ready
Cytopenias and congenital anaemias ENO1 Louise Daugherty classified ENO1 as red
Cytopenias and congenital anaemias ENO1 Louise Daugherty commented on ENO1
Cytopenias and congenital anaemias EPB41 Louise Daugherty marked EPB41 as ready
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Cytopenias and congenital anaemias EPB41 Louise Daugherty classified EPB41 as green
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Intellectual disability RANBP2 Sarah Leigh classified RANBP2 as green
Intellectual disability RANBP2 Sarah Leigh commented on RANBP2
Intellectual disability RANBP2 Sarah Leigh classified RANBP2 as green
Sudden death in young people RYR2 Rebecca Foulger commented on RYR2
Severe microcephaly PHC1 Rebecca Foulger commented on PHC1
Severe microcephaly PHC1 Rebecca Foulger commented on PHC1
Undiagnosed metabolic disorders Sarah Leigh promoted panel to version 1
Undiagnosed metabolic disorders SLC22A4 Sarah Leigh added SLC22A4 to panel
Severe microcephaly NSMCE2 Rebecca Foulger commented on NSMCE2
Undiagnosed metabolic disorders SLC22A4 Sarah Leigh reviewed SLC22A4
Cytopenias and congenital anaemias EPB41 Louise Daugherty commented on EPB41
Undiagnosed metabolic disorders SLCO1B3 Sarah Leigh classified SLCO1B3 as red
Undiagnosed metabolic disorders SLCO1B3 Sarah Leigh added SLCO1B3 to panel
Undiagnosed metabolic disorders SLCO1B3 Sarah Leigh reviewed SLCO1B3
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6
Severe microcephaly DDX11 Rebecca Foulger classified DDX11 as green
Severe microcephaly DDX11 Rebecca Foulger commented on DDX11
Undiagnosed metabolic disorders SLCO1B1 Sarah Leigh classified SLCO1B1 as red
Undiagnosed metabolic disorders SLCO1B1 Sarah Leigh added SLCO1B1 to panel
Undiagnosed metabolic disorders SLCO1B1 Sarah Leigh reviewed SLCO1B1
Undiagnosed metabolic disorders SLC6A20 Sarah Leigh added SLC6A20 to panel
Undiagnosed metabolic disorders SLC6A20 Sarah Leigh reviewed SLC6A20
Cytopenias and congenital anaemias SLC4A1 Louise Daugherty marked SLC4A1 as ready
Cytopenias and congenital anaemias EPB42 Louise Daugherty marked EPB42 as ready
Cytopenias and congenital anaemias EPB42 Louise Daugherty marked EPB42 as ready
Cytopenias and congenital anaemias ERCC4 Louise Daugherty marked ERCC4 as ready
Cytopenias and congenital anaemias SLC4A1 Louise Daugherty classified SLC4A1 as green
Severe microcephaly CDC6 Rebecca Foulger commented on CDC6
Cytopenias and congenital anaemias SLC4A1 Louise Daugherty commented on SLC4A1
Cytopenias and congenital anaemias EPB42 Louise Daugherty classified EPB42 as green
Undiagnosed metabolic disorders GGT1 Sarah Leigh commented on GGT1
Cytopenias and congenital anaemias EPB42 Louise Daugherty commented on EPB42
Undiagnosed metabolic disorders DLST Sarah Leigh commented on DLST
Fetal hydrops TALDO1 Rebecca Foulger classified TALDO1 as green
Fetal hydrops TALDO1 Rebecca Foulger commented on TALDO1
Fetal hydrops TALDO1 Rebecca Foulger commented on TALDO1
Congenital myaesthenic syndrome MYO9A Rebecca Foulger commented on MYO9A
Cytopenias and congenital anaemias ERCC4 Louise Daugherty classified ERCC4 as green
Intellectual disability CSNK2A1 Richard Scott classified CSNK2A1 as green
Intellectual disability CSNK2A1 Richard Scott commented on CSNK2A1
Malformations of cortical development CSNK2A1 Richard Scott marked CSNK2A1 as ready
Malformations of cortical development CSNK2A1 Richard Scott classified CSNK2A1 as green
Malformations of cortical development CSNK2A1 Richard Scott added CSNK2A1 to panel
Malformations of cortical development CSNK2A1 Richard Scott reviewed CSNK2A1
Cytopenias and congenital anaemias ERCC4 Louise Daugherty edited their review of ERCC4
Cytopenias and congenital anaemias ERCC4 Ellen McDonagh reviewed ERCC4
Cytopenias and congenital anaemias C15orf41 Louise Daugherty marked C15orf41 as ready
Cytopenias and congenital anaemias SPTB Louise Daugherty marked SPTB as ready
Cytopenias and congenital anaemias TF Louise Daugherty marked TF as ready
Cytopenias and congenital anaemias TPI1 Louise Daugherty marked TPI1 as ready
Cytopenias and congenital anaemias TXNIP Louise Daugherty marked TXNIP as ready
Cytopenias and congenital anaemias WIPF1 Louise Daugherty marked WIPF1 as ready
Cytopenias and congenital anaemias UBE2T Louise Daugherty marked UBE2T as ready
Cytopenias and congenital anaemias VPS45 Louise Daugherty marked VPS45 as ready
Cytopenias and congenital anaemias ERCC4 Louise Daugherty commented on ERCC4
Cytopenias and congenital anaemias ERCC4 Louise Daugherty commented on ERCC4
Cytopenias and congenital anaemias C15orf41 Louise Daugherty classified C15orf41 as green
Cytopenias and congenital anaemias C15orf41 Louise Daugherty classified C15orf41 as green
Cytopenias and congenital anaemias C15orf41 Louise Daugherty edited their review of C15orf41
Cytopenias and congenital anaemias C15orf41 Louise Daugherty commented on C15orf41
Intellectual disability ATAD3A Richard Scott marked ATAD3A as ready
Intellectual disability ATAD3A Richard Scott classified ATAD3A as green
Intellectual disability ATAD3A Richard Scott edited their review of ATAD3A
Intellectual disability ATAD3A Richard Scott added ATAD3A to panel
Intellectual disability ATAD3A Richard Scott reviewed ATAD3A
Mitochondrial disorders ATAD3A Richard Scott classified ATAD3A as green
Mitochondrial disorders ATAD3A Richard Scott reviewed ATAD3A
Undiagnosed metabolic disorders XDH Helen Brittain reviewed XDH
Undiagnosed metabolic disorders USF1 Helen Brittain reviewed USF1
Undiagnosed metabolic disorders UROS Helen Brittain reviewed UROS
Undiagnosed metabolic disorders UROD Helen Brittain reviewed UROD
Undiagnosed metabolic disorders UQCRB Helen Brittain reviewed UQCRB
Undiagnosed metabolic disorders UPB1 Helen Brittain reviewed UPB1
Undiagnosed metabolic disorders UGT1A1 Helen Brittain reviewed UGT1A1
Undiagnosed metabolic disorders TUFM Helen Brittain reviewed TUFM
Undiagnosed metabolic disorders TSFM Helen Brittain reviewed TSFM
Undiagnosed metabolic disorders TRPM6 Helen Brittain reviewed TRPM6
Undiagnosed metabolic disorders TREH Helen Brittain reviewed TREH
Undiagnosed metabolic disorders TPMT Helen Brittain reviewed TPMT
Undiagnosed metabolic disorders TMEM126A Helen Brittain reviewed TMEM126A
Undiagnosed metabolic disorders TFR2 Helen Brittain reviewed TFR2
Undiagnosed metabolic disorders TDO2 Helen Brittain reviewed TDO2
Undiagnosed metabolic disorders TCN1 Helen Brittain reviewed TCN1
Undiagnosed metabolic disorders SUGCT Helen Brittain reviewed SUGCT
Undiagnosed metabolic disorders SUCLG2 Arianna Tucci reviewed SUCLG2
Undiagnosed metabolic disorders SLC5A1 Arianna Tucci reviewed SLC5A1
Intellectual disability INPP5K Ellen McDonagh classified INPP5K as green
Undiagnosed metabolic disorders SLC40A1 Arianna Tucci reviewed SLC40A1
Undiagnosed metabolic disorders SLC39A8 Arianna Tucci reviewed SLC39A8
Undiagnosed metabolic disorders SLC39A4 Arianna Tucci reviewed SLC39A4
Undiagnosed metabolic disorders SLC36A2 Arianna Tucci reviewed SLC36A2
Undiagnosed metabolic disorders SLC35A1 Arianna Tucci reviewed SLC35A1
Undiagnosed metabolic disorders SLC27A5 Arianna Tucci reviewed SLC27A5
Undiagnosed metabolic disorders SLC25A3 Arianna Tucci reviewed SLC25A3
Undiagnosed metabolic disorders SLC25A2 Arianna Tucci reviewed SLC25A2
Undiagnosed metabolic disorders SLC25A1 Arianna Tucci reviewed SLC25A1
Undiagnosed metabolic disorders SLC18A2 Arianna Tucci reviewed SLC18A2
Undiagnosed metabolic disorders SI Arianna Tucci reviewed SI
Undiagnosed metabolic disorders SHPK Arianna Tucci reviewed SHPK
Undiagnosed metabolic disorders SCARB1 Arianna Tucci reviewed SCARB1
Undiagnosed metabolic disorders SARDH Arianna Tucci reviewed SARDH
Undiagnosed metabolic disorders SAR1B Arianna Tucci reviewed SAR1B
Undiagnosed metabolic disorders RPIA Olivia Niblock reviewed RPIA
Undiagnosed metabolic disorders RANBP2 Olivia Niblock reviewed RANBP2
Undiagnosed metabolic disorders PUS1 Olivia Niblock reviewed PUS1
Undiagnosed metabolic disorders PTPRZ1 Olivia Niblock reviewed PTPRZ1
Undiagnosed metabolic disorders PRODH Olivia Niblock reviewed PRODH
Undiagnosed metabolic disorders PREPL Olivia Niblock reviewed PREPL
Undiagnosed metabolic disorders PPOX Olivia Niblock reviewed PPOX
Undiagnosed metabolic disorders PPM1K Sarah Leigh commented on PPM1K
Undiagnosed metabolic disorders PPM1B Olivia Niblock reviewed PPM1B
Undiagnosed metabolic disorders PNLIP Olivia Niblock reviewed PNLIP
Undiagnosed metabolic disorders PIGM Olivia Niblock reviewed PIGM
Undiagnosed metabolic disorders PHYKPL Olivia Niblock reviewed PHYKPL
Undiagnosed metabolic disorders PHKG1 Sarah Leigh commented on PHKG1
Undiagnosed metabolic disorders PDXK Olivia Niblock reviewed PDXK
Undiagnosed metabolic disorders PDPR Olivia Niblock reviewed PDPR
Undiagnosed metabolic disorders PDP2 Olivia Niblock reviewed PDP2
Undiagnosed metabolic disorders PDK4 Olivia Niblock reviewed PDK4
Undiagnosed metabolic disorders PDK3 Olivia Niblock reviewed PDK3
Undiagnosed metabolic disorders PDK2 Olivia Niblock reviewed PDK2
Undiagnosed metabolic disorders PDK1 Louise Daugherty reviewed PDK1
Undiagnosed metabolic disorders PCK1 Louise Daugherty reviewed PCK1
Undiagnosed metabolic disorders OPLAH Louise Daugherty reviewed OPLAH
Undiagnosed metabolic disorders OGDH Louise Daugherty reviewed OGDH
Undiagnosed metabolic disorders NUP62 Louise Daugherty reviewed NUP62
Undiagnosed metabolic disorders NT5C3A Louise Daugherty reviewed NT5C3A
Undiagnosed metabolic disorders NT5C Louise Daugherty reviewed NT5C
Undiagnosed metabolic disorders NDUFB9 Louise Daugherty reviewed NDUFB9
Undiagnosed metabolic disorders NDUFAF6 Louise Daugherty reviewed NDUFAF6
Undiagnosed metabolic disorders NDUFA9 Louise Daugherty reviewed NDUFA9
Undiagnosed metabolic disorders NDUFA12 Louise Daugherty reviewed NDUFA12
Undiagnosed metabolic disorders MTTP Louise Daugherty reviewed MTTP
Undiagnosed metabolic disorders MTPAP Louise Daugherty reviewed MTPAP
Undiagnosed metabolic disorders MSMO1 Louise Daugherty reviewed MSMO1
Undiagnosed metabolic disorders MRPS16 Louise Daugherty reviewed MRPS16
Undiagnosed metabolic disorders MRPL3 Louise Daugherty reviewed MRPL3
Undiagnosed metabolic disorders MOGS Louise Daugherty reviewed MOGS
Undiagnosed metabolic disorders MFF Rebecca Foulger reviewed MFF
Undiagnosed metabolic disorders LPL Rebecca Foulger reviewed LPL
Undiagnosed metabolic disorders LIPI Rebecca Foulger reviewed LIPI
Undiagnosed metabolic disorders LIPC Rebecca Foulger reviewed LIPC
Undiagnosed metabolic disorders LFNG Rebecca Foulger reviewed LFNG
Undiagnosed metabolic disorders LCT Rebecca Foulger reviewed LCT
Undiagnosed metabolic disorders LCAT Rebecca Foulger reviewed LCAT
Undiagnosed metabolic disorders KYNU Rebecca Foulger reviewed KYNU
Undiagnosed metabolic disorders KHK Sarah Leigh reviewed KHK
Undiagnosed metabolic disorders ITPA Rebecca Foulger reviewed ITPA
Undiagnosed metabolic disorders IDH2 Rebecca Foulger reviewed IDH2
Undiagnosed metabolic disorders IARS2 Sarah Leigh reviewed IARS2
Undiagnosed metabolic disorders HYKK Rebecca Foulger reviewed HYKK
Undiagnosed metabolic disorders HYAL1 Rebecca Foulger reviewed HYAL1
Undiagnosed metabolic disorders HSD3B7 Rebecca Foulger reviewed HSD3B7
Undiagnosed metabolic disorders HMBS Rebecca Foulger reviewed HMBS
Undiagnosed metabolic disorders HFE2 Rebecca Foulger reviewed HFE2
Undiagnosed metabolic disorders HFE Rebecca Foulger reviewed HFE
Undiagnosed metabolic disorders HARS2 Rebecca Foulger reviewed HARS2
Undiagnosed metabolic disorders HAMP Ellen McDonagh reviewed HAMP
Undiagnosed metabolic disorders HAL Sarah Leigh reviewed HAL
Undiagnosed metabolic disorders GSS Ellen McDonagh reviewed GSS
Undiagnosed metabolic disorders GPHN Ellen McDonagh reviewed GPHN
Undiagnosed metabolic disorders GLYCTK Ellen McDonagh reviewed GLYCTK
Undiagnosed metabolic disorders GLS Ellen McDonagh reviewed GLS
Undiagnosed metabolic disorders GGT1 Ellen McDonagh reviewed GGT1
Undiagnosed metabolic disorders GCSH Ellen McDonagh reviewed GCSH
Undiagnosed metabolic disorders GCLC Ellen McDonagh reviewed GCLC
Undiagnosed metabolic disorders GALNT12 Sarah Leigh reviewed GALNT12
Undiagnosed metabolic disorders FXYD2 Ellen McDonagh reviewed FXYD2
Undiagnosed metabolic disorders FMO3 Sarah Leigh reviewed FMO3
Undiagnosed metabolic disorders EGF Sarah Leigh reviewed EGF
Undiagnosed metabolic disorders DPYD Ellen McDonagh reviewed DPYD
Undiagnosed metabolic disorders DPM3 Ellen McDonagh reviewed DPM3
Undiagnosed metabolic disorders DPEP1 Ellen McDonagh reviewed DPEP1
Undiagnosed metabolic disorders DMGDH Ellen McDonagh reviewed DMGDH
Undiagnosed metabolic disorders DLST Ellen McDonagh reviewed DLST
Undiagnosed metabolic disorders DCXR Ellen McDonagh reviewed DCXR
Undiagnosed metabolic disorders DBH Sarah Leigh reviewed DBH
Undiagnosed metabolic disorders CYP7A1 Ellen McDonagh reviewed CYP7A1
Undiagnosed metabolic disorders CPOX Ellen McDonagh reviewed CPOX
Undiagnosed metabolic disorders COX4I2 Sarah Leigh reviewed COX4I2
Undiagnosed metabolic disorders COA5 Sarah Leigh reviewed COA5
Undiagnosed metabolic disorders CNNM2 Sarah Leigh reviewed CNNM2
Undiagnosed metabolic disorders CNDP1 Sarah Leigh reviewed CNDP1
Undiagnosed metabolic disorders CLPS Sarah Leigh reviewed CLPS
Undiagnosed metabolic disorders CETP Sarah Leigh reviewed CETP
Undiagnosed metabolic disorders CD320 Sarah Leigh edited their review of CD320
Undiagnosed metabolic disorders BCAT2 Sarah Leigh reviewed BCAT2
Undiagnosed metabolic disorders BCAT1 Sarah Leigh reviewed BCAT1
Undiagnosed metabolic disorders BAAT Sarah Leigh reviewed BAAT
Undiagnosed metabolic disorders ATXN7 Sarah Leigh reviewed ATXN7
Undiagnosed metabolic disorders ATP8B1 Sarah Leigh reviewed ATP8B1
Undiagnosed metabolic disorders ATP5E Sarah Leigh reviewed ATP5E
Undiagnosed metabolic disorders ATP5A1 Sarah Leigh reviewed ATP5A1
Undiagnosed metabolic disorders APRT Sarah Leigh reviewed APRT
Undiagnosed metabolic disorders APOE Sarah Leigh reviewed APOE
Undiagnosed metabolic disorders APOC2 Sarah Leigh reviewed APOC2
Intellectual disability INPP5K Ellen McDonagh added INPP5K to panel
Undiagnosed metabolic disorders APOA5 Sarah Leigh reviewed APOA5
Undiagnosed metabolic disorders APOA1 Sarah Leigh reviewed APOA1
Undiagnosed metabolic disorders AOX1 Sarah Leigh reviewed AOX1
Undiagnosed metabolic disorders AMPD1 Sarah Leigh reviewed AMPD1
Undiagnosed metabolic disorders ALG2 Sarah Leigh reviewed ALG2
Intellectual disability INPP5K Ellen McDonagh reviewed INPP5K
Undiagnosed metabolic disorders ALG14 Sarah Leigh reviewed ALG14
Undiagnosed metabolic disorders ALDH6A1 Sarah Leigh reviewed ALDH6A1
Undiagnosed metabolic disorders ALAD Sarah Leigh reviewed ALAD
Undiagnosed metabolic disorders AKR1D1 Sarah Leigh reviewed AKR1D1
Undiagnosed metabolic disorders AHCY Sarah Leigh reviewed AHCY
Undiagnosed metabolic disorders ACADSB Sarah Leigh reviewed ACADSB
Undiagnosed metabolic disorders ACAD8 Sarah Leigh reviewed ACAD8
Undiagnosed metabolic disorders ABHD5 Sarah Leigh reviewed ABHD5
Undiagnosed metabolic disorders ABCG2 Sarah Leigh reviewed ABCG2
Undiagnosed metabolic disorders ABCB4 Sarah Leigh reviewed ABCB4
Undiagnosed metabolic disorders ABCB11 Sarah Leigh reviewed ABCB11
Undiagnosed metabolic disorders ABCA1 Sarah Leigh reviewed ABCA1
Cytopenias and congenital anaemias SPTB Louise Daugherty classified SPTB as green
Cytopenias and congenital anaemias SPTB Louise Daugherty commented on SPTB
Bilateral congenital or childhood onset cataracts INPP5K Ellen McDonagh classified INPP5K as green
Bilateral congenital or childhood onset cataracts INPP5K Ellen McDonagh added INPP5K to panel
Bilateral congenital or childhood onset cataracts INPP5K Ellen McDonagh reviewed INPP5K
Cytopenias and congenital anaemias TF Louise Daugherty commented on TF
Cytopenias and congenital anaemias ATRX Ellen McDonagh classified ATRX as amber
Undiagnosed metabolic disorders TALDO1 Sarah Leigh marked TALDO1 as ready
Undiagnosed metabolic disorders TALDO1 Sarah Leigh classified TALDO1 as green
Cytopenias and congenital anaemias ATRX Ellen McDonagh commented on ATRX
Sudden death in young people RYR2 Bill Newman added RYR2 to panel
Sudden death in young people RYR2 Bill Newman reviewed RYR2
Cytopenias and congenital anaemias TPI1 Louise Daugherty classified TPI1 as green
Cytopenias and congenital anaemias TPI1 Louise Daugherty commented on TPI1
Undiagnosed metabolic disorders TALDO1 Sarah Leigh commented on TALDO1
Inherited bleeding disorders AP3D1 Louise Daugherty added AP3D1 to panel
Inherited bleeding disorders AP3D1 Louise Daugherty reviewed AP3D1
Inherited bleeding disorders SRC Louise Daugherty commented on SRC
Cytopenias and congenital anaemias UBE2T Louise Daugherty classified UBE2T as green
Cytopenias and congenital anaemias RBM8A Helen Brittain reviewed RBM8A
Cytopenias and congenital anaemias RAD51C Helen Brittain reviewed RAD51C
Skeletal Muscle Channelopathies Arianna Tucci promoted panel to version 1
Skeletal Muscle Channelopathies KCNJ5 Arianna Tucci marked KCNJ5 as ready
Skeletal Muscle Channelopathies KCNJ5 Arianna Tucci classified KCNJ5 as amber
Cytopenias and congenital anaemias ASXL1 Ellen McDonagh marked ASXL1 as ready
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci marked KCNJ18 as ready
Skeletal Muscle Channelopathies HSPG2 Arianna Tucci marked HSPG2 as ready
Cytopenias and congenital anaemias PALB2 Helen Brittain reviewed PALB2
Cytopenias and congenital anaemias ASXL1 Ellen McDonagh classified ASXL1 as red
Cytopenias and congenital anaemias ASXL1 Ellen McDonagh classified ASXL1 as red
Cytopenias and congenital anaemias ASXL1 Ellen McDonagh commented on ASXL1
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci marked KCNA1 as ready
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci commented on KCNA1
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci classified KCNA1 as green
Cytopenias and congenital anaemias ARHGAP26 Ellen McDonagh marked ARHGAP26 as ready
Cytopenias and congenital anaemias ARHGAP26 Ellen McDonagh classified ARHGAP26 as red
Cytopenias and congenital anaemias ARHGAP26 Ellen McDonagh commented on ARHGAP26
Cytopenias and congenital anaemias ABL1 Ellen McDonagh marked ABL1 as ready
Cytopenias and congenital anaemias ABL1 Ellen McDonagh classified ABL1 as red
Cytopenias and congenital anaemias ABL1 Ellen McDonagh commented on ABL1
Periodic fever syndromes Rebecca Foulger promoted panel to version 1
Cytopenias and congenital anaemias FANCL Helen Brittain reviewed FANCL
Cytopenias and congenital anaemias FANCI Helen Brittain reviewed FANCI
Distal myopathies Arianna Tucci promoted panel to version 1
Cytopenias and congenital anaemias FANCG Helen Brittain reviewed FANCG
Cytopenias and congenital anaemias FANCF Helen Brittain reviewed FANCF
Distal myopathies KLHL9 Arianna Tucci marked KLHL9 as ready
Skeletal Muscle Channelopathies KCNQ2 Fowzan ALKURAYA reviewed KCNQ2
Skeletal Muscle Channelopathies DMPK Fowzan ALKURAYA reviewed DMPK
Skeletal Muscle Channelopathies CNBP Fowzan ALKURAYA reviewed CNBP
Skeletal Muscle Channelopathies ADCY5 Fowzan ALKURAYA reviewed ADCY5
Skeletal Muscle Channelopathies SLC1A3 Fowzan ALKURAYA reviewed SLC1A3
Skeletal Muscle Channelopathies KCNJ18 Fowzan ALKURAYA reviewed KCNJ18
Skeletal Muscle Channelopathies KCNA1 Fowzan ALKURAYA reviewed KCNA1
Skeletal Muscle Channelopathies CACNB4 Fowzan ALKURAYA reviewed CACNB4
Skeletal Muscle Channelopathies CACNA1A Fowzan ALKURAYA reviewed CACNA1A
Skeletal Muscle Channelopathies SCN4A Fowzan ALKURAYA reviewed SCN4A
Skeletal Muscle Channelopathies KCNJ2 Fowzan ALKURAYA reviewed KCNJ2
Skeletal Muscle Channelopathies CLCN1 Fowzan ALKURAYA reviewed CLCN1
Skeletal Muscle Channelopathies CACNA1S Fowzan ALKURAYA reviewed CACNA1S
Skeletal Muscle Channelopathies ATP2A1 Fowzan ALKURAYA reviewed ATP2A1
Cytopenias and congenital anaemias FANCE Helen Brittain reviewed FANCE
Cytopenias and congenital anaemias FANCD2 Helen Brittain reviewed FANCD2
Cytopenias and congenital anaemias FANCC Helen Brittain reviewed FANCC
Cytopenias and congenital anaemias FANCA Helen Brittain reviewed FANCA
Brain channelopathy NKX2-1 Arianna Tucci marked NKX2-1 as ready
Brain channelopathy NKX2-1 Arianna Tucci classified NKX2-1 as red
Brain channelopathy HTT Arianna Tucci marked HTT as ready
Congenital hypothyroidism Rebecca Foulger promoted panel to version 1
Brain channelopathy KCNQ3 Arianna Tucci marked KCNQ3 as ready
Corneal abnormalities AGBL1 Ellen Thomas classified AGBL1 as amber
Corneal abnormalities AGBL1 Ellen Thomas commented on AGBL1
Cerebellar hypoplasia Ellen McDonagh promoted panel to version 1
Brain channelopathy KCNQ3 Arianna Tucci classified KCNQ3 as green
Brain channelopathy KCNQ2 Arianna Tucci marked KCNQ2 as ready
Brain channelopathy KCNQ2 Arianna Tucci classified KCNQ2 as green
Brain channelopathy SCN9A Arianna Tucci marked SCN9A as ready
Congenital myaesthenic syndrome Rebecca Foulger promoted panel to version 1
Congenital myopathy Helen Brittain promoted panel to version 1
Cytopenias and congenital anaemias UBE2T Louise Daugherty commented on UBE2T
Congenital myopathy COL6A2 Helen Brittain marked COL6A2 as ready
Congenital myopathy COL6A1 Helen Brittain marked COL6A1 as ready
Congenital myopathy MTM1 Helen Brittain marked MTM1 as ready
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myaesthenic syndrome ALG2 Rebecca Foulger classified ALG2 as amber
Congenital myaesthenic syndrome PLEC Rebecca Foulger classified PLEC as green
Congenital myopathy BAG3 Helen Brittain marked BAG3 as ready
Congenital myopathy BAG3 Helen Brittain classified BAG3 as green
Corneal abnormalities ZEB1 Ellen McDonagh marked ZEB1 as ready
Corneal abnormalities ZEB1 Ellen McDonagh classified ZEB1 as green
Corneal abnormalities ZEB1 Ellen McDonagh commented on ZEB1
Corneal abnormalities SLC16A12 Ellen McDonagh marked SLC16A12 as ready
Corneal abnormalities SLC16A12 Ellen McDonagh classified SLC16A12 as green
Corneal abnormalities SLC16A12 Ellen McDonagh commented on SLC16A12
Corneal abnormalities RAB3GAP2 Ellen McDonagh marked RAB3GAP2 as ready
Congenital hypothyroidism OTX2 Rebecca Foulger classified OTX2 as green
Corneal abnormalities RAB3GAP2 Ellen McDonagh classified RAB3GAP2 as green
Corneal abnormalities RAB3GAP2 Ellen McDonagh commented on RAB3GAP2
Corneal abnormalities RAB3GAP1 Ellen McDonagh marked RAB3GAP1 as ready
Corneal abnormalities RAB3GAP1 Ellen McDonagh classified RAB3GAP1 as green
Corneal abnormalities RAB3GAP1 Ellen McDonagh commented on RAB3GAP1
Corneal abnormalities RAB18 Ellen McDonagh marked RAB18 as ready
Corneal abnormalities RAB18 Ellen McDonagh classified RAB18 as green
Corneal abnormalities RAB18 Ellen McDonagh commented on RAB18
Corneal abnormalities PIK3R1 Ellen McDonagh marked PIK3R1 as ready
Congenital myopathy STIM2 Helen Brittain marked STIM2 as ready
Corneal abnormalities PIK3R1 Ellen McDonagh classified PIK3R1 as green
Corneal abnormalities PIK3R1 Ellen McDonagh commented on PIK3R1
Congenital myopathy STIM2 Helen Brittain classified STIM2 as red
Congenital myopathy MYH8 Helen Brittain marked MYH8 as ready
Corneal abnormalities OVOL2 Ellen McDonagh commented on OVOL2
Congenital myopathy MYH8 Helen Brittain classified MYH8 as green
Corneal abnormalities OVOL2 Ellen McDonagh classified OVOL2 as amber
Congenital myopathy MYH3 Helen Brittain marked MYH3 as ready
Congenital myopathy MYH3 Helen Brittain classified MYH3 as green
Corneal abnormalities MIR184 Ellen McDonagh classified MIR184 as green
Cytopenias and congenital anaemias WAS Helen Brittain reviewed WAS
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Corneal abnormalities MED25 Ellen McDonagh classified MED25 as red
Corneal abnormalities GLS Ellen McDonagh commented on GLS
Corneal abnormalities LAMB2 Ellen McDonagh classified LAMB2 as amber
Corneal abnormalities GLS Ellen McDonagh classified GLS as amber
Corneal abnormalities ALDH18A1 Ellen McDonagh classified ALDH18A1 as amber
Cytopenias and congenital anaemias SLX4 Helen Brittain reviewed SLX4
Undiagnosed metabolic disorders PDK3 Sarah Leigh reviewed PDK3
Corneal abnormalities MAF Ellen McDonagh classified MAF as amber
Corneal abnormalities MAF Ellen McDonagh commented on MAF
Congenital hypothyroidism PRKAR1A Rebecca Foulger classified PRKAR1A as green
Corneal abnormalities LTBP2 Ellen McDonagh marked LTBP2 as ready
Corneal abnormalities LTBP2 Ellen McDonagh classified LTBP2 as green
Corneal abnormalities LTBP2 Ellen McDonagh commented on LTBP2
Congenital hypothyroidism SOX3 Rebecca Foulger classified SOX3 as red
Corneal abnormalities GJA8 Ellen McDonagh classified GJA8 as red
Corneal abnormalities GJA8 Ellen McDonagh commented on GJA8
Corneal abnormalities CYP4V2 Ellen McDonagh classified CYP4V2 as red
Corneal abnormalities CYP4V2 Ellen McDonagh commented on CYP4V2
Cytopenias and congenital anaemias VPS45 Louise Daugherty classified VPS45 as green
Congenital hypothyroidism SOX3 Rebecca Foulger commented on SOX3
Congenital hypothyroidism SOX3 Rebecca Foulger commented on SOX3
Corneal abnormalities APOA1 Ellen McDonagh classified APOA1 as amber
Corneal abnormalities APOA1 Ellen McDonagh commented on APOA1
Cytopenias and congenital anaemias SLC25A38 Helen Brittain reviewed SLC25A38
Corneal abnormalities ABCA3 Ellen McDonagh classified ABCA3 as red
Corneal abnormalities AGBL1 Ellen McDonagh classified AGBL1 as amber
Corneal abnormalities AGBL1 Ellen McDonagh commented on AGBL1
Corneal abnormalities VSX1 Ellen McDonagh marked VSX1 as ready
Corneal abnormalities VSX1 Ellen McDonagh classified VSX1 as green
Corneal abnormalities VSX1 Ellen McDonagh commented on VSX1
Congenital hypothyroidism SOX3 Rebecca Foulger commented on SOX3
Corneal abnormalities PITX2 Ellen McDonagh marked PITX2 as ready
Corneal abnormalities PITX2 Ellen McDonagh classified PITX2 as green
Corneal abnormalities PITX2 Ellen McDonagh commented on PITX2
Corneal abnormalities PAX6 Ellen McDonagh commented on PAX6
Corneal abnormalities PAX6 Ellen McDonagh classified PAX6 as amber
Corneal abnormalities DCN Ellen McDonagh marked DCN as ready
Corneal abnormalities DCN Ellen McDonagh classified DCN as green
Corneal abnormalities DCN Ellen McDonagh commented on DCN
Corneal abnormalities BEST1 Ellen McDonagh classified BEST1 as red
Corneal abnormalities BEST1 Ellen McDonagh commented on BEST1
Congenital myopathy DMPK Helen Brittain marked DMPK as ready
Corneal abnormalities HMX1 Ellen McDonagh marked HMX1 as ready
Corneal abnormalities HMX1 Ellen McDonagh classified HMX1 as green
Brain channelopathy KCNQ3 Arianna Tucci added KCNQ3 to panel
Brain channelopathy KCNQ3 Arianna Tucci reviewed KCNQ3
Brain channelopathy KCNQ2 Arianna Tucci added KCNQ2 to panel
Brain channelopathy KCNQ2 Arianna Tucci reviewed KCNQ2
Brain channelopathy ADCY5 Arianna Tucci marked ADCY5 as ready
Brain channelopathy ADCY5 Arianna Tucci commented on ADCY5
Brain channelopathy ADCY5 Arianna Tucci marked ADCY5 as ready
Brain channelopathy ADCY5 Arianna Tucci classified ADCY5 as green
Brain channelopathy SLC6A5 Arianna Tucci marked SLC6A5 as ready
Brain channelopathy SLC6A5 Arianna Tucci classified SLC6A5 as green
Brain channelopathy GLRB Arianna Tucci marked GLRB as ready
Brain channelopathy GLRB Arianna Tucci classified GLRB as green
Brain channelopathy GLRA1 Arianna Tucci marked GLRA1 as ready
Brain channelopathy GLRA1 Arianna Tucci classified GLRA1 as green
Cytopenias and congenital anaemias VPS45 Louise Daugherty commented on VPS45
Brain channelopathy ATP7B Arianna Tucci marked ATP7B as ready
Brain channelopathy ATP7B Arianna Tucci classified ATP7B as green
Cytopenias and congenital anaemias WIPF1 Louise Daugherty commented on WIPF1
Brain channelopathy ATP7B Arianna Tucci marked ATP7B as ready
Brain channelopathy KCNK18 Arianna Tucci marked KCNK18 as ready
Brain channelopathy SLC2A1 Arianna Tucci marked SLC2A1 as ready
Brain channelopathy SLC1A3 Arianna Tucci marked SLC1A3 as ready
Brain channelopathy SCN8A Arianna Tucci marked SCN8A as ready
Brain channelopathy SCN1A Arianna Tucci marked SCN1A as ready
Congenital hypothyroidism PRKAR1A Rebecca Foulger commented on PRKAR1A
Brain channelopathy PRRT2 Arianna Tucci marked PRRT2 as ready
Brain channelopathy PNKD Arianna Tucci marked PNKD as ready
Brain channelopathy PNKD Arianna Tucci commented on PNKD
Brain channelopathy KCNA1 Arianna Tucci marked KCNA1 as ready
Brain channelopathy CACNB4 Arianna Tucci marked CACNB4 as ready
Brain channelopathy CACNA1A Arianna Tucci marked CACNA1A as ready
Brain channelopathy ATP1A3 Arianna Tucci marked ATP1A3 as ready
Brain channelopathy ATP1A3 Arianna Tucci commented on ATP1A3
Brain channelopathy ATP1A2 Arianna Tucci marked ATP1A2 as ready
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Skeletal Muscle Channelopathies MT-ATP6 Arianna Tucci marked MT-ATP6 as ready
Skeletal Muscle Channelopathies MT-ATP6 Arianna Tucci classified MT-ATP6 as green
Skeletal Muscle Channelopathies MT-ATP8 Arianna Tucci marked MT-ATP8 as ready
Skeletal Muscle Channelopathies MT-ATP8 Arianna Tucci classified MT-ATP8 as green
Skeletal Muscle Channelopathies PYGM Arianna Tucci marked PYGM as ready
Skeletal Muscle Channelopathies PYGM Arianna Tucci classified PYGM as green
Skeletal Muscle Channelopathies RYR1 Arianna Tucci marked RYR1 as ready
Skeletal Muscle Channelopathies RYR1 Arianna Tucci classified RYR1 as green
Skeletal Muscle Channelopathies PYGM Arianna Tucci added PYGM to panel
Skeletal Muscle Channelopathies PYGM Arianna Tucci reviewed PYGM
Skeletal Muscle Channelopathies RYR1 Arianna Tucci added RYR1 to panel
Skeletal Muscle Channelopathies RYR1 Arianna Tucci reviewed RYR1
Skeletal Muscle Channelopathies HSPG2 Arianna Tucci added HSPG2 to panel
Skeletal Muscle Channelopathies HSPG2 Arianna Tucci reviewed HSPG2
Skeletal Muscle Channelopathies MT-ATP8 Arianna Tucci added MT-ATP8 to panel
Skeletal Muscle Channelopathies MT-ATP8 Arianna Tucci reviewed MT-ATP8
Skeletal Muscle Channelopathies MT-ATP6 Arianna Tucci added MT-ATP6 to panel
Skeletal Muscle Channelopathies MT-ATP6 Arianna Tucci reviewed MT-ATP6
Skeletal Muscle Channelopathies KCNJ5 Arianna Tucci added KCNJ5 to panel
Skeletal Muscle Channelopathies KCNJ5 Arianna Tucci reviewed KCNJ5
Skeletal Muscle Channelopathies KCNQ2 Arianna Tucci classified KCNQ2 as amber
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci classified CACNB4 as amber
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci marked KCNJ18 as ready
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci commented on KCNJ18
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci classified KCNJ18 as red
Skeletal Muscle Channelopathies ADCY5 Arianna Tucci marked ADCY5 as ready
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci marked SLC1A3 as ready
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci commented on SLC1A3
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci classified SLC1A3 as green
Skeletal Muscle Channelopathies ADCY5 Arianna Tucci classified ADCY5 as green
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci classified CACNB4 as red
Corneal abnormalities MIR184 Ellen McDonagh classified MIR184 as amber
Corneal abnormalities MIR184 Ellen McDonagh commented on MIR184
Congenital hypothyroidism PROP1 Rebecca Foulger classified PROP1 as green
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Primary ciliary disorders PIH1D3 Ellen McDonagh classified PIH1D3 as green
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Corneal abnormalities MED25 Ellen McDonagh commented on MED25
Corneal abnormalities MED25 Ellen McDonagh classified MED25 as amber
Intellectual disability MED25 Ellen McDonagh commented on MED25
Intellectual disability MED25 Ellen McDonagh added MED25 to panel
Intellectual disability MED25 Ellen McDonagh reviewed MED25
Congenital hypothyroidism LHX4 Rebecca Foulger classified LHX4 as green
Congenital hypothyroidism LHX3 Rebecca Foulger classified LHX3 as green
Corneal abnormalities LAMB2 Ellen McDonagh classified LAMB2 as green
Corneal abnormalities LAMB2 Ellen McDonagh commented on LAMB2
Congenital hypothyroidism HESX1 Rebecca Foulger classified HESX1 as green
Corneal abnormalities KRT3 Ellen McDonagh marked KRT3 as ready
Corneal abnormalities KRT3 Ellen McDonagh classified KRT3 as green
Corneal abnormalities KRT3 Ellen McDonagh commented on KRT3
Corneal abnormalities KRT12 Ellen McDonagh marked KRT12 as ready
Corneal abnormalities KRT12 Ellen McDonagh classified KRT12 as green
Corneal abnormalities KRT12 Ellen McDonagh commented on KRT12
Corneal abnormalities KERA Ellen McDonagh marked KERA as ready
Corneal abnormalities KERA Ellen McDonagh classified KERA as green
Corneal abnormalities KERA Ellen McDonagh commented on KERA
Corneal abnormalities HMX1 Ellen McDonagh classified HMX1 as amber
Corneal abnormalities HMX1 Ellen McDonagh commented on HMX1
Corneal abnormalities GJA1 Ellen McDonagh marked GJA1 as ready
Corneal abnormalities GJA1 Ellen McDonagh classified GJA1 as green
Corneal abnormalities GJA1 Ellen McDonagh commented on GJA1
Corneal abnormalities GJA1 Ellen McDonagh marked GJA1 as ready
Corneal abnormalities COL8A2 Ellen McDonagh marked COL8A2 as ready
Corneal abnormalities COL8A2 Ellen McDonagh classified COL8A2 as green
Corneal abnormalities COL8A2 Ellen McDonagh commented on COL8A2
Corneal abnormalities CHRDL1 Ellen McDonagh marked CHRDL1 as ready
Corneal abnormalities CHRDL1 Ellen McDonagh classified CHRDL1 as green
Corneal abnormalities CHRDL1 Ellen McDonagh commented on CHRDL1
Corneal abnormalities B3GALTL Ellen McDonagh marked B3GALTL as ready
Corneal abnormalities B3GALTL Ellen McDonagh classified B3GALTL as green
Corneal abnormalities B3GALTL Ellen McDonagh commented on B3GALTL
Distal myopathies VCP Arianna Tucci marked VCP as ready
Distal myopathies VCP Arianna Tucci classified VCP as green
Distal myopathies TTN Arianna Tucci marked TTN as ready
Distal myopathies TTN Arianna Tucci classified TTN as green
Distal myopathies TTN Arianna Tucci marked TTN as ready
Familial pulmonary fibrosis ABCA3 Helen Brittain commented on ABCA3
Distal myopathies TIA1 Arianna Tucci marked TIA1 as ready
Distal myopathies TIA1 Arianna Tucci classified TIA1 as green
Distal myopathies SQSTM1 Arianna Tucci marked SQSTM1 as ready
Distal myopathies SQSTM1 Arianna Tucci classified SQSTM1 as green
Familial pulmonary fibrosis ABCA3 Helen Brittain commented on ABCA3
Distal myopathies NEB Arianna Tucci marked NEB as ready
Distal myopathies NEB Arianna Tucci classified NEB as green
Distal myopathies MYOT Arianna Tucci marked MYOT as ready
Distal myopathies MYOT Arianna Tucci classified MYOT as green
Distal myopathies MATR3 Arianna Tucci marked MATR3 as ready
Distal myopathies MATR3 Arianna Tucci classified MATR3 as green
Distal myopathies LDB3 Arianna Tucci marked LDB3 as ready
Distal myopathies LDB3 Arianna Tucci marked LDB3 as ready
Distal myopathies LDB3 Arianna Tucci classified LDB3 as green
Distal myopathies HSPB8 Arianna Tucci marked HSPB8 as ready
Distal myopathies HSPB8 Arianna Tucci classified HSPB8 as green
Distal myopathies HSPB1 Arianna Tucci marked HSPB1 as ready
Distal myopathies HSPB1 Arianna Tucci classified HSPB1 as green
Distal myopathies GNE Arianna Tucci marked GNE as ready
Distal myopathies GNE Arianna Tucci classified GNE as green
Distal myopathies FHL1 Arianna Tucci marked FHL1 as ready
Distal myopathies FHL1 Arianna Tucci classified FHL1 as green
Distal myopathies FLNC Arianna Tucci marked FLNC as ready
Distal myopathies FLNC Arianna Tucci classified FLNC as green
Distal myopathies DNM2 Arianna Tucci marked DNM2 as ready
Distal myopathies DNM2 Arianna Tucci marked DNM2 as ready
Distal myopathies DNM2 Arianna Tucci classified DNM2 as green
Distal myopathies DYSF Arianna Tucci marked DYSF as ready
Distal myopathies DYSF Arianna Tucci classified DYSF as green
Distal myopathies DUX4 Arianna Tucci marked DUX4 as ready
Distal myopathies DUX4 Arianna Tucci commented on DUX4
Distal myopathies DUX4 Arianna Tucci classified DUX4 as red
Distal myopathies DNAJB6 Arianna Tucci marked DNAJB6 as ready
Distal myopathies DNAJB6 Arianna Tucci classified DNAJB6 as green
Distal myopathies DMPK Arianna Tucci marked DMPK as ready
Distal myopathies DMD Arianna Tucci marked DMD as ready
Distal myopathies DMD Arianna Tucci commented on DMD
Distal myopathies DMD Arianna Tucci classified DMD as red
Congenital myaesthenic syndrome PLEC Rebecca Foulger classified PLEC as amber
Cystic kidney disease GANAB Miranda Durkie reviewed GANAB
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Severe microcephaly TUBGCP3 Rebecca Foulger commented on TUBGCP3
Severe microcephaly NSMCE2 Rebecca Foulger commented on NSMCE2
Intracerebral calcification disorders SNORD118 Ellen McDonagh commented on SNORD118
Inherited white matter disorders SNORD118 Ellen McDonagh commented on SNORD118
Non-syndromic hypotrichosis Rebecca Foulger promoted panel to version 1
Non-syndromic hypotrichosis SNRPE Rebecca Foulger classified SNRPE as amber
Non-syndromic hypotrichosis KRT74 Rebecca Foulger classified KRT74 as green
Intracerebral calcification disorders SNORD118 Richard Scott added SNORD118 to panel
Intracerebral calcification disorders SNORD118 Richard Scott reviewed SNORD118
Inherited white matter disorders SNORD118 Richard Scott added SNORD118 to panel
Inherited white matter disorders SNORD118 Richard Scott reviewed SNORD118
Cytopenias and congenital anaemias SLC11A2 Helen Brittain reviewed SLC11A2
Distal myopathies DES Arianna Tucci marked DES as ready
Distal myopathies DES Arianna Tucci classified DES as green
Distal myopathies CRYAB Arianna Tucci marked CRYAB as ready
Distal myopathies CRYAB Arianna Tucci classified CRYAB as green
Distal myopathies CNBP Arianna Tucci marked CNBP as ready
Cytopenias and congenital anaemias SBDS Helen Brittain reviewed SBDS
Congenital muscular dystrophy INPP5K Ellen McDonagh classified INPP5K as green
Distal myopathies CNBP Arianna Tucci classified CNBP as green
Congenital muscular dystrophy INPP5K Ellen McDonagh added INPP5K to panel
Congenital muscular dystrophy INPP5K Ellen McDonagh reviewed INPP5K
Distal myopathies BAG3 Arianna Tucci marked BAG3 as ready
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Distal myopathies BAG3 Arianna Tucci classified BAG3 as green
Distal myopathies ANO5 Arianna Tucci marked ANO5 as ready
Congenital hypothyroidism PROP1 Rebecca Foulger commented on PROP1
Congenital hypothyroidism PRKAR1A Rebecca Foulger edited their review of PRKAR1A
Distal myopathies ANO5 Arianna Tucci classified ANO5 as green
Congenital hypothyroidism PRKAR1A Rebecca Foulger commented on PRKAR1A
Distal myopathies ACTA1 Arianna Tucci marked ACTA1 as ready
Cytopenias and congenital anaemias CDAN1 Helen Brittain reviewed CDAN1
Distal myopathies ACTA1 Arianna Tucci classified ACTA1 as green
Distal myopathies MYH7 Arianna Tucci marked MYH7 as ready
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Congenital hypothyroidism OTX2 Rebecca Foulger edited their review of OTX2
Congenital hypothyroidism OTX2 Rebecca Foulger commented on OTX2
Congenital hypothyroidism LHX4 Rebecca Foulger commented on LHX4
Congenital hypothyroidism LHX4 Rebecca Foulger commented on LHX4
Congenital hypothyroidism HESX1 Rebecca Foulger commented on HESX1
Cytopenias and congenital anaemias BRIP1 Helen Brittain reviewed BRIP1
Distal myopathies MYH7 Arianna Tucci classified MYH7 as green
Congenital hypothyroidism LHX4 Rebecca Foulger commented on LHX4
Congenital hypothyroidism LHX3 Rebecca Foulger commented on LHX3
Congenital hypothyroidism LHX3 Rebecca Foulger commented on LHX3
Congenital hypothyroidism LHX3 Rebecca Foulger commented on LHX3
Congenital hypothyroidism HESX1 Rebecca Foulger commented on HESX1
Congenital hypothyroidism HESX1 Rebecca Foulger commented on HESX1
Familial hidradenitis suppurativa Ellen McDonagh approved panel
Congenital hypothyroidism HESX1 Rebecca Foulger commented on HESX1
Cytopenias and congenital anaemias ALAS2 Helen Brittain reviewed ALAS2
Cytopenias and congenital anaemias BRCA2 Helen Brittain reviewed BRCA2
Congenital hypothyroidism PRKAR1A Nadia Schoenmakers added PRKAR1A to panel
Congenital hypothyroidism PRKAR1A Nadia Schoenmakers reviewed PRKAR1A
Congenital hypothyroidism OTX2 Nadia Schoenmakers added OTX2 to panel
Congenital hypothyroidism OTX2 Nadia Schoenmakers reviewed OTX2
Congenital hypothyroidism SOX3 Nadia Schoenmakers added SOX3 to panel
Congenital hypothyroidism SOX3 Nadia Schoenmakers reviewed SOX3
Congenital hypothyroidism LHX4 Nadia Schoenmakers added LHX4 to panel
Congenital hypothyroidism LHX4 Nadia Schoenmakers reviewed LHX4
Congenital hypothyroidism LHX3 Nadia Schoenmakers added LHX3 to panel
Congenital hypothyroidism LHX3 Nadia Schoenmakers reviewed LHX3
Congenital hypothyroidism HESX1 Nadia Schoenmakers added HESX1 to panel
Congenital hypothyroidism HESX1 Nadia Schoenmakers reviewed HESX1
Congenital hypothyroidism POU1F1 Nadia Schoenmakers reviewed POU1F1
Congenital hypothyroidism PROP1 Nadia Schoenmakers added PROP1 to panel
Congenital hypothyroidism PROP1 Nadia Schoenmakers reviewed PROP1
Cytopenias and congenital anaemias Louise Daugherty approved panel
Cytopenias and congenital anaemias FANCB Louise Daugherty added FANCB to panel
Cytopenias and congenital anaemias FANCB Louise Daugherty reviewed FANCB
Ehlers Danlos syndrome with a likely monogenic cause Ellen McDonagh approved panel
Childhood solid tumours NOTCH3 Ellen McDonagh commented on NOTCH3
Childhood solid tumours NOTCH3 Ellen McDonagh added NOTCH3 to panel
Childhood solid tumours NOTCH3 Ellen McDonagh reviewed NOTCH3
Childhood solid tumours PDGFRB Ellen McDonagh marked PDGFRB as ready
Childhood solid tumours PDGFRB Ellen McDonagh classified PDGFRB as green
Childhood solid tumours PDGFRB Ellen McDonagh commented on PDGFRB
Childhood solid tumours PDGFRB Richard Scott added PDGFRB to panel
Childhood solid tumours PDGFRB Richard Scott reviewed PDGFRB
Congenital hypothyroidism DUOX2 Rebecca Foulger commented on DUOX2
Congenital hypothyroidism SLC26A4 Rebecca Foulger commented on SLC26A4
Congenital hypothyroidism TPO Rebecca Foulger commented on TPO
Congenital hypothyroidism TG Rebecca Foulger commented on TG
Congenital hypothyroidism POU1F1 Rebecca Foulger classified POU1F1 as green
Congenital hypothyroidism TRHR Rebecca Foulger classified TRHR as green
Congenital hypothyroidism TRHR Rebecca Foulger commented on TRHR
Congenital hypothyroidism TRHR Rebecca Foulger commented on TRHR
Congenital hypothyroidism TRHR Rebecca Foulger commented on TRHR
Congenital myopathy SPEG Helen Brittain marked SPEG as ready
Congenital myopathy SPEG Helen Brittain classified SPEG as green
Congenital myopathy SPEG Helen Brittain added SPEG to panel
Congenital myopathy SPEG Helen Brittain reviewed SPEG
Congenital myopathy LMOD3 Helen Brittain marked LMOD3 as ready
Congenital myopathy LMOD3 Helen Brittain classified LMOD3 as green
Congenital myopathy LMOD3 Helen Brittain marked LMOD3 as ready
Congenital myopathy LMOD3 Helen Brittain added LMOD3 to panel
Congenital myopathy LMOD3 Helen Brittain reviewed LMOD3
Congenital myopathy DMPK Helen Brittain added DMPK to panel
Congenital myopathy DMPK Helen Brittain reviewed DMPK
Congenital hypothyroidism POU1F1 Rebecca Foulger commented on POU1F1
Congenital hypothyroidism POU1F1 Rebecca Foulger commented on POU1F1
Non-syndromic hypotrichosis KRT74 Rebecca Foulger classified KRT74 as amber
Non-syndromic hypotrichosis KRT74 Rebecca Foulger commented on KRT74
Non-syndromic hypotrichosis SNRPE Rebecca Foulger classified SNRPE as amber
Non-syndromic hypotrichosis SNRPE Rebecca Foulger commented on SNRPE
Non-syndromic hypotrichosis SNRPE Rebecca Foulger commented on SNRPE
Corneal abnormalities ALDH18A1 Ellen McDonagh classified ALDH18A1 as green
Corneal abnormalities ALDH18A1 Ellen McDonagh commented on ALDH18A1
Corneal abnormalities ADAMTS18 Ellen McDonagh marked ADAMTS18 as ready
Corneal abnormalities ADAMTS18 Ellen McDonagh classified ADAMTS18 as green
Corneal abnormalities ADAMTS18 Ellen McDonagh commented on ADAMTS18
Corneal abnormalities ABCA3 Ellen McDonagh classified ABCA3 as amber
Corneal abnormalities ABCA3 Ellen McDonagh commented on ABCA3
Corneal abnormalities ZNF469 Ellen McDonagh marked ZNF469 as ready
Corneal abnormalities ZNF469 Ellen McDonagh commented on ZNF469
Corneal abnormalities ZNF469 Ellen McDonagh classified ZNF469 as green
Corneal abnormalities UBIAD1 Ellen McDonagh marked UBIAD1 as ready
Corneal abnormalities UBIAD1 Ellen McDonagh classified UBIAD1 as green
Corneal abnormalities UBIAD1 Ellen McDonagh commented on UBIAD1
Corneal abnormalities TGFBI Ellen McDonagh classified TGFBI as green
Corneal abnormalities TGFBI Ellen McDonagh commented on TGFBI
Corneal abnormalities TACSTD2 Ellen McDonagh marked TACSTD2 as ready
Corneal abnormalities TACSTD2 Ellen McDonagh classified TACSTD2 as green
Corneal abnormalities TACSTD2 Ellen McDonagh commented on TACSTD2
Undiagnosed metabolic disorders MTPAP Louise Daugherty commented on MTPAP
Undiagnosed metabolic disorders DPM2 Ellen McDonagh classified DPM2 as green
Undiagnosed metabolic disorders DPM2 Ellen McDonagh added DPM2 to panel
Undiagnosed metabolic disorders DPM2 Ellen McDonagh reviewed DPM2
Congenital hypothyroidism GNAS Rebecca Foulger classified GNAS as green
Congenital hypothyroidism SLC26A4 Rebecca Foulger marked SLC26A4 as ready
Congenital hypothyroidism SLC26A4 Rebecca Foulger classified SLC26A4 as green
Congenital hypothyroidism THRA Rebecca Foulger marked THRA as ready
Congenital hypothyroidism THRA Rebecca Foulger classified THRA as green
Congenital hypothyroidism THRA Rebecca Foulger commented on THRA
Congenital hypothyroidism DUOX2 Rebecca Foulger commented on DUOX2
Congenital hypothyroidism NKX2-5 Rebecca Foulger classified NKX2-5 as amber
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Hyperammonaemia CD320 Sarah Leigh commented on CD320
Corneal abnormalities SLC4A11 Ellen McDonagh classified SLC4A11 as green
Corneal abnormalities SLC4A11 Ellen McDonagh commented on SLC4A11
Congenital hypothyroidism TBL1X Rebecca Foulger classified TBL1X as amber
Corneal abnormalities PRDM5 Ellen McDonagh marked PRDM5 as ready
Corneal abnormalities PRDM5 Ellen McDonagh classified PRDM5 as green
Corneal abnormalities PRDM5 Ellen McDonagh commented on PRDM5
Corneal abnormalities PIKFYVE Ellen McDonagh marked PIKFYVE as ready
Corneal abnormalities PIKFYVE Ellen McDonagh classified PIKFYVE as green
Corneal abnormalities PIKFYVE Ellen McDonagh commented on PIKFYVE
Corneal abnormalities CHST6 Ellen McDonagh marked CHST6 as ready
Corneal abnormalities CHST6 Ellen McDonagh classified CHST6 as green
Corneal abnormalities CHST6 Ellen McDonagh commented on CHST6
Congenital hypothyroidism TBL1X Rebecca Foulger commented on TBL1X
Undiagnosed metabolic disorders CD320 Sarah Leigh edited their review of CD320
Congenital hypothyroidism TBL1X Rebecca Foulger commented on TBL1X
Congenital hypothyroidism IGSF1 Rebecca Foulger marked IGSF1 as ready
Congenital hypothyroidism IGSF1 Rebecca Foulger classified IGSF1 as green
Congenital hypothyroidism IGSF1 Rebecca Foulger commented on IGSF1
Congenital hypothyroidism POU1F1 Rebecca Foulger commented on POU1F1
Congenital hypothyroidism POU1F1 Rebecca Foulger commented on POU1F1
Congenital hypothyroidism NKX2-5 Rebecca Foulger commented on NKX2-5
Congenital hypothyroidism TSHB Rebecca Foulger marked TSHB as ready
Congenital hypothyroidism TSHB Rebecca Foulger classified TSHB as green
Congenital hypothyroidism TSHB Rebecca Foulger commented on TSHB
Congenital hypothyroidism TG Rebecca Foulger marked TG as ready
Congenital hypothyroidism TG Rebecca Foulger classified TG as green
Congenital hypothyroidism TG Rebecca Foulger edited their review of TG
Congenital hypothyroidism TG Rebecca Foulger commented on TG
Congenital hypothyroidism SLC5A5 Rebecca Foulger marked SLC5A5 as ready
Congenital hypothyroidism SLC5A5 Rebecca Foulger classified SLC5A5 as green
Congenital hypothyroidism SLC5A5 Rebecca Foulger commented on SLC5A5
Congenital hypothyroidism SLC26A4 Rebecca Foulger commented on SLC26A4
Congenital hypothyroidism SLC26A4 Rebecca Foulger commented on SLC26A4
Congenital hypothyroidism SLC26A4 Rebecca Foulger edited their review of SLC26A4
Congenital hypothyroidism SLC26A4 Rebecca Foulger commented on SLC26A4
Congenital hypothyroidism IYD Rebecca Foulger classified IYD as green
Congenital hypothyroidism IYD Rebecca Foulger commented on IYD
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Undiagnosed metabolic disorders FTCD Ellen McDonagh commented on FTCD
Congenital hypothyroidism GNAS Rebecca Foulger edited their review of GNAS
Intellectual disability FTCD Ellen McDonagh commented on FTCD
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism DUOXA2 Rebecca Foulger marked DUOXA2 as ready
Congenital hypothyroidism DUOXA2 Rebecca Foulger classified DUOXA2 as green
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital hypothyroidism DUOXA2 Rebecca Foulger commented on DUOXA2
Congenital disorders of glycosylation SLC39A8 Sarah Leigh classified SLC39A8 as green
Congenital hypothyroidism TPO Rebecca Foulger marked TPO as ready
Congenital hypothyroidism TPO Rebecca Foulger classified TPO as green
Congenital hypothyroidism TPO Rebecca Foulger edited their review of TPO
Congenital hypothyroidism TPO Rebecca Foulger commented on TPO
Congenital hypothyroidism THRA Rebecca Foulger commented on THRA
Congenital hypothyroidism FOXE1 Rebecca Foulger marked FOXE1 as ready
Congenital hypothyroidism FOXE1 Rebecca Foulger edited their review of FOXE1
Congenital hypothyroidism FOXE1 Rebecca Foulger classified FOXE1 as green
Congenital hypothyroidism FOXE1 Rebecca Foulger classified FOXE1 as green
Congenital hypothyroidism FOXE1 Rebecca Foulger commented on FOXE1
Congenital hypothyroidism DUOX2 Rebecca Foulger marked DUOX2 as ready
Congenital hypothyroidism DUOX2 Rebecca Foulger classified DUOX2 as green
Congenital hypothyroidism DUOX2 Rebecca Foulger edited their review of DUOX2
Congenital hypothyroidism DUOX2 Rebecca Foulger commented on DUOX2
Congenital hypothyroidism TSHR Rebecca Foulger marked TSHR as ready
Congenital hypothyroidism TSHR Rebecca Foulger commented on TSHR
Non-syndromic hypotrichosis SNRPE Celia Moss reviewed SNRPE
Non-syndromic hypotrichosis SNRPE Celia Moss commented on SNRPE
Congenital hypothyroidism TSHR Rebecca Foulger edited their review of TSHR
Congenital hypothyroidism TSHR Rebecca Foulger commented on TSHR
Congenital hypothyroidism PAX8 Rebecca Foulger marked PAX8 as ready
Congenital hypothyroidism PAX8 Rebecca Foulger edited their review of PAX8
Congenital hypothyroidism PAX8 Rebecca Foulger commented on PAX8
Congenital hypothyroidism NKX2-1 Rebecca Foulger marked NKX2-1 as ready
Congenital hypothyroidism NKX2-1 Rebecca Foulger commented on NKX2-1
Congenital hypothyroidism GLIS3 Rebecca Foulger marked GLIS3 as ready
Congenital hypothyroidism GLIS3 Rebecca Foulger commented on GLIS3
Congenital hypothyroidism TBL1X Nadia Schoenmakers added TBL1X to panel
Congenital hypothyroidism TBL1X Nadia Schoenmakers reviewed TBL1X
Congenital hypothyroidism TRHR Nadia Schoenmakers added TRHR to panel
Congenital hypothyroidism TRHR Nadia Schoenmakers reviewed TRHR
Congenital hypothyroidism IGSF1 Nadia Schoenmakers added IGSF1 to panel
Congenital hypothyroidism IGSF1 Nadia Schoenmakers reviewed IGSF1
Congenital hypothyroidism TSHB Nadia Schoenmakers reviewed TSHB
Congenital hypothyroidism TG Nadia Schoenmakers reviewed TG
Congenital hypothyroidism SLC5A5 Nadia Schoenmakers reviewed SLC5A5
Congenital hypothyroidism SLC26A4 Nadia Schoenmakers reviewed SLC26A4
Congenital hypothyroidism NKX2-5 Nadia Schoenmakers reviewed NKX2-5
Congenital hypothyroidism IYD Nadia Schoenmakers reviewed IYD
Congenital hypothyroidism DUOXA2 Nadia Schoenmakers reviewed DUOXA2
Congenital hypothyroidism DUOX2 Nadia Schoenmakers edited their review of DUOX2
Congenital hypothyroidism TPO Nadia Schoenmakers reviewed TPO
Congenital hypothyroidism THRA Nadia Schoenmakers reviewed THRA
Congenital hypothyroidism FOXE1 Nadia Schoenmakers edited their review of FOXE1
Congenital hypothyroidism FOXE1 Nadia Schoenmakers reviewed FOXE1
Congenital hypothyroidism DUOX2 Nadia Schoenmakers reviewed DUOX2
Congenital hypothyroidism PAX8 Nadia Schoenmakers edited their review of PAX8
Congenital hypothyroidism TSHR Nadia Schoenmakers reviewed TSHR
Congenital hypothyroidism PAX8 Nadia Schoenmakers reviewed PAX8
Intellectual disability CIT Richard Scott marked CIT as ready
Intellectual disability CIT Richard Scott classified CIT as green
Intellectual disability CIT Richard Scott added CIT to panel
Intellectual disability CIT Richard Scott reviewed CIT
Undiagnosed metabolic disorders ATIC Richard Scott classified ATIC as green
Undiagnosed metabolic disorders ATIC Richard Scott marked ATIC as ready
Undiagnosed metabolic disorders ATIC Richard Scott reviewed ATIC
Retinal disorders ERCC6 Richard Scott marked ERCC6 as ready
Retinal disorders ERCC6 Richard Scott classified ERCC6 as green
Retinal disorders ERCC8 Richard Scott marked ERCC8 as ready
Retinal disorders ERCC8 Richard Scott classified ERCC8 as green
Retinal disorders ERCC8 Richard Scott added ERCC8 to panel
Retinal disorders ERCC8 Richard Scott reviewed ERCC8
Retinal disorders ERCC6 Richard Scott reviewed ERCC6
Congenital hypothyroidism NKX2-1 Nadia Schoenmakers reviewed NKX2-1
Congenital hypothyroidism GLIS3 Nadia Schoenmakers reviewed GLIS3
Clefting MEIS2 Louise Daugherty classified MEIS2 as green
Undiagnosed metabolic disorders SI Sarah Leigh commented on SI
Familial pulmonary fibrosis NKX2-1 Alice Gardham marked NKX2-1 as ready
Familial pulmonary fibrosis CSF2RA Alice Gardham marked CSF2RA as ready
Undiagnosed metabolic disorders SAR1B Sarah Leigh commented on SAR1B
Familial pulmonary fibrosis CSF2RA Alice Gardham classified CSF2RA as green
Familial pulmonary fibrosis CSF2RA Alice Gardham reviewed CSF2RA
Familial pulmonary fibrosis SFTPA2 Alice Gardham marked SFTPA2 as ready
Familial pulmonary fibrosis SFTPA2 Alice Gardham classified SFTPA2 as green
Familial pulmonary fibrosis SLC34A2 Alice Gardham marked SLC34A2 as ready
Familial pulmonary fibrosis SLC34A2 Alice Gardham classified SLC34A2 as green
Familial pulmonary fibrosis SLC34A2 Alice Gardham added SLC34A2 to panel
Familial pulmonary fibrosis SLC34A2 Alice Gardham reviewed SLC34A2
Clefting COL9A2 Louise Daugherty classified COL9A2 as amber
Familial pulmonary fibrosis CSF2RB Alice Gardham marked CSF2RB as ready
Familial pulmonary fibrosis CSF2RB Alice Gardham classified CSF2RB as green
Familial pulmonary fibrosis CSF2RB Alice Gardham reviewed CSF2RB
Familial pulmonary fibrosis SFTPB Alice Gardham marked SFTPB as ready
Distal myopathies SQSTM1 Arianna Tucci added SQSTM1 to panel
Distal myopathies SQSTM1 Arianna Tucci reviewed SQSTM1
Familial pulmonary fibrosis SFTPB Alice Gardham classified SFTPB as green
Undiagnosed metabolic disorders UROS Sarah Leigh commented on UROS
Familial pulmonary fibrosis ASAH1 Alice Gardham marked ASAH1 as ready
Familial pulmonary fibrosis ASAH1 Alice Gardham added ASAH1 to panel
Familial pulmonary fibrosis ASAH1 Alice Gardham reviewed ASAH1
Severe microcephaly ERCC5 Rebecca Foulger classified ERCC5 as red
Familial pulmonary fibrosis CASR Alice Gardham classified CASR as amber
Familial pulmonary fibrosis CASR Alice Gardham added CASR to panel
Familial pulmonary fibrosis CASR Alice Gardham reviewed CASR
Severe microcephaly ERCC5 Rebecca Foulger commented on ERCC5
Severe microcephaly ERCC5 Rebecca Foulger commented on ERCC5
Severe microcephaly ERCC5 Rebecca Foulger added ERCC5 to panel
Severe microcephaly ERCC5 Rebecca Foulger reviewed ERCC5
Undiagnosed metabolic disorders UGT1A1 Sarah Leigh commented on UGT1A1
Distal myopathies HSPB1 Arianna Tucci added HSPB1 to panel
Distal myopathies HSPB1 Arianna Tucci reviewed HSPB1
Distal myopathies HSPB8 Arianna Tucci added HSPB8 to panel
Distal myopathies HSPB8 Arianna Tucci reviewed HSPB8
Familial pulmonary fibrosis SLC7A7 Alice Gardham marked SLC7A7 as ready
Familial pulmonary fibrosis SLC7A7 Alice Gardham added SLC7A7 to panel
Familial pulmonary fibrosis SLC7A7 Alice Gardham reviewed SLC7A7
Distal myopathies DNM2 Arianna Tucci added DNM2 to panel
Distal myopathies DNM2 Arianna Tucci reviewed DNM2
Clefting FLNA Louise Daugherty classified FLNA as amber
Familial pulmonary fibrosis SMPD1 Alice Gardham marked SMPD1 as ready
Severe microcephaly ERCC4 Rebecca Foulger classified ERCC4 as green
Familial pulmonary fibrosis SMPD1 Alice Gardham added SMPD1 to panel
Familial pulmonary fibrosis SMPD1 Alice Gardham reviewed SMPD1
Severe microcephaly ERCC4 Rebecca Foulger commented on ERCC4
Clefting ANKRD11 Louise Daugherty classified ANKRD11 as green
Distal myopathies KLHL9 Arianna Tucci added KLHL9 to panel
Distal myopathies KLHL9 Arianna Tucci reviewed KLHL9
Familial pulmonary fibrosis GBA Alice Gardham marked GBA as ready
Severe microcephaly ERCC4 Rebecca Foulger commented on ERCC4
Familial pulmonary fibrosis GBA Alice Gardham added GBA to panel
Familial pulmonary fibrosis GBA Alice Gardham reviewed GBA
Severe microcephaly ERCC4 Rebecca Foulger added ERCC4 to panel
Severe microcephaly ERCC4 Rebecca Foulger reviewed ERCC4
Distal myopathies ACTA1 Arianna Tucci added ACTA1 to panel
Distal myopathies ACTA1 Arianna Tucci reviewed ACTA1
Familial pulmonary fibrosis NF1 Alice Gardham marked NF1 as ready
Familial pulmonary fibrosis NF1 Alice Gardham classified NF1 as green
Familial pulmonary fibrosis NF1 Alice Gardham classified NF1 as green
Familial pulmonary fibrosis TSC2 Alice Gardham marked TSC2 as ready
Familial pulmonary fibrosis TSC2 Alice Gardham classified TSC2 as green
Familial pulmonary fibrosis TSC1 Alice Gardham marked TSC1 as ready
Familial pulmonary fibrosis TSC1 Alice Gardham classified TSC1 as green
Distal myopathies FHL1 Arianna Tucci added FHL1 to panel
Distal myopathies FHL1 Arianna Tucci reviewed FHL1
Familial pulmonary fibrosis ITGA3 Alice Gardham marked ITGA3 as ready
Familial pulmonary fibrosis ITGA3 Alice Gardham added ITGA3 to panel
Familial pulmonary fibrosis ITGA3 Alice Gardham reviewed ITGA3
Familial pulmonary fibrosis TINF2 Alice Gardham marked TINF2 as ready
Familial pulmonary fibrosis TINF2 Alice Gardham classified TINF2 as green
Familial pulmonary fibrosis TINF2 Alice Gardham added TINF2 to panel
Familial pulmonary fibrosis TINF2 Alice Gardham reviewed TINF2
Familial pulmonary fibrosis DKC1 Alice Gardham marked DKC1 as ready
Familial pulmonary fibrosis DKC1 Alice Gardham classified DKC1 as green
Familial pulmonary fibrosis DKC1 Alice Gardham added DKC1 to panel
Familial pulmonary fibrosis DKC1 Alice Gardham reviewed DKC1
Familial pulmonary fibrosis NKX2-1 Alice Gardham added NKX2-1 to panel
Familial pulmonary fibrosis NKX2-1 Alice Gardham reviewed NKX2-1
Radial dysplasia FANCM Rebecca Foulger classified FANCM as red
Radial dysplasia FANCM Rebecca Foulger commented on FANCM
Severe microcephaly FANCM Rebecca Foulger classified FANCM as red
Severe microcephaly FANCM Rebecca Foulger commented on FANCM
Pneumothorax - familial Olivia Niblock promoted panel to version 1
Familial pulmonary fibrosis SFTPD Alice Gardham marked SFTPD as ready
Familial pulmonary fibrosis SFTPD Alice Gardham commented on SFTPD
Familial pulmonary fibrosis TSC2 Alice Gardham classified TSC2 as amber
Familial pulmonary fibrosis STAT3 Alice Gardham marked STAT3 as ready
Familial pulmonary fibrosis STAT3 Alice Gardham commented on STAT3
Familial pulmonary fibrosis SERPINA1 Alice Gardham marked SERPINA1 as ready
Familial pulmonary fibrosis SERPINA1 Alice Gardham commented on SERPINA1
Pneumothorax - familial TGFBR1 Olivia Niblock classified TGFBR1 as green
Familial pulmonary fibrosis LTBP4 Alice Gardham marked LTBP4 as ready
Familial pulmonary fibrosis LTBP4 Alice Gardham commented on LTBP4
Familial pulmonary fibrosis FBLN5 Alice Gardham marked FBLN5 as ready
Familial pulmonary fibrosis FBLN5 Alice Gardham commented on FBLN5
Familial pulmonary fibrosis ELN Alice Gardham marked ELN as ready
Familial pulmonary fibrosis ELN Alice Gardham commented on ELN
Familial pulmonary fibrosis EFEMP2 Alice Gardham commented on EFEMP2
Familial pulmonary fibrosis EFEMP2 Alice Gardham marked EFEMP2 as ready
Familial pulmonary fibrosis DOCK8 Alice Gardham marked DOCK8 as ready
Familial pulmonary fibrosis DOCK8 Alice Gardham commented on DOCK8
Familial pulmonary fibrosis CFTR Alice Gardham marked CFTR as ready
Familial pulmonary fibrosis CFTR Alice Gardham commented on CFTR
Familial pulmonary fibrosis BMPR2 Alice Gardham marked BMPR2 as ready
Familial pulmonary fibrosis BMPR2 Alice Gardham commented on BMPR2
Familial pulmonary fibrosis NF1 Alice Gardham classified NF1 as amber
Familial pulmonary fibrosis TSC2 Alice Gardham reviewed TSC2
Familial pulmonary fibrosis TSC1 Alice Gardham classified TSC1 as amber
Familial pulmonary fibrosis TSC1 Alice Gardham reviewed TSC1
Familial pulmonary fibrosis NF1 Alice Gardham added NF1 to panel
Familial pulmonary fibrosis NF1 Alice Gardham reviewed NF1
Familial pulmonary fibrosis BLOC1S6 Alice Gardham marked BLOC1S6 as ready
Familial pulmonary fibrosis BLOC1S6 Alice Gardham reviewed BLOC1S6
Familial pulmonary fibrosis BLOC1S3 Alice Gardham marked BLOC1S3 as ready
Pneumothorax - familial TGFBR2 Olivia Niblock marked TGFBR2 as ready
Pneumothorax - familial TGFBR2 Olivia Niblock classified TGFBR2 as green
Pneumothorax - familial TGFBR2 Olivia Niblock classified TGFBR2 as red
Pneumothorax - familial TGFBR2 Olivia Niblock commented on TGFBR2
Familial pulmonary fibrosis BLOC1S3 Alice Gardham reviewed BLOC1S3
Pneumothorax - familial TGFB3 Olivia Niblock marked TGFB3 as ready
Pneumothorax - familial TGFB3 Olivia Niblock classified TGFB3 as green
Pneumothorax - familial TGFB3 Olivia Niblock commented on TGFB3
Pneumothorax - familial TGFB2 Olivia Niblock marked TGFB2 as ready
Pneumothorax - familial TGFB2 Olivia Niblock classified TGFB2 as green
Pneumothorax - familial TGFB2 Olivia Niblock commented on TGFB2
Familial pulmonary fibrosis DTNBP1 Alice Gardham marked DTNBP1 as ready
Familial pulmonary fibrosis DTNBP1 Alice Gardham reviewed DTNBP1
Familial pulmonary fibrosis HPS6 Alice Gardham marked HPS6 as ready
Hereditary spastic paraplegia ALS2 Richard Scott marked ALS2 as ready
Severe microcephaly WDR73 Rebecca Foulger classified WDR73 as green
Hereditary spastic paraplegia ALS2 Richard Scott classified ALS2 as green
Hereditary spastic paraplegia ALS2 Richard Scott added ALS2 to panel
Hereditary spastic paraplegia ALS2 Richard Scott reviewed ALS2
Familial pulmonary fibrosis HPS6 Alice Gardham commented on HPS6
Familial pulmonary fibrosis HPS6 Alice Gardham commented on HPS6
Familial pulmonary fibrosis HPS6 Alice Gardham commented on HPS6
Familial pulmonary fibrosis HPS6 Alice Gardham commented on HPS6
Familial pulmonary fibrosis HPS6 Alice Gardham commented on HPS6
Familial pulmonary fibrosis HPS6 Alice Gardham reviewed HPS6
Hereditary spastic paraplegia AIMP1 Richard Scott marked AIMP1 as ready
Hereditary spastic paraplegia AIMP1 Richard Scott classified AIMP1 as green
Hereditary spastic paraplegia AIMP1 Richard Scott added AIMP1 to panel
Hereditary spastic paraplegia AIMP1 Richard Scott reviewed AIMP1
Familial pulmonary fibrosis HPS5 Alice Gardham marked HPS5 as ready
Familial pulmonary fibrosis HPS5 Alice Gardham reviewed HPS5
Familial pulmonary fibrosis HPS3 Alice Gardham marked HPS3 as ready
Familial pulmonary fibrosis HPS3 Alice Gardham reviewed HPS3
Familial pulmonary fibrosis ABCA3 Alice Gardham marked ABCA3 as ready
Familial pulmonary fibrosis ABCA3 Alice Gardham reviewed ABCA3
Congenital myaesthenic syndrome DOK7 Rebecca Foulger edited their review of DOK7
Congenital myaesthenic syndrome COLQ Rebecca Foulger commented on COLQ
Clefting NEDD4L Louise Daugherty classified NEDD4L as green
Clefting NEDD4L Louise Daugherty classified NEDD4L as green
Clefting NEDD4L Louise Daugherty commented on NEDD4L
Familial pulmonary fibrosis SMAD9 Alice Gardham marked SMAD9 as ready
Familial pulmonary fibrosis SMAD9 Alice Gardham commented on SMAD9
Familial pulmonary fibrosis ASCL1 Alice Gardham marked ASCL1 as ready
Familial pulmonary fibrosis ASCL1 Alice Gardham commented on ASCL1
Familial pulmonary fibrosis ACVRL1 Alice Gardham marked ACVRL1 as ready
Familial pulmonary fibrosis ACVRL1 Alice Gardham commented on ACVRL1
Familial pulmonary fibrosis AP3B1 Alice Gardham marked AP3B1 as ready
Familial pulmonary fibrosis AP3B1 Alice Gardham classified AP3B1 as green
Familial pulmonary fibrosis AP3B1 Alice Gardham reviewed AP3B1
Familial pulmonary fibrosis HPS4 Alice Gardham marked HPS4 as ready
Familial pulmonary fibrosis HPS4 Alice Gardham reviewed HPS4
Familial pulmonary fibrosis HPS4 Alice Gardham classified HPS4 as green
Familial pulmonary fibrosis HPS1 Alice Gardham marked HPS1 as ready
Familial pulmonary fibrosis HPS1 Alice Gardham classified HPS1 as green
Familial pulmonary fibrosis HPS1 Alice Gardham reviewed HPS1
Familial pulmonary fibrosis GDNF Alice Gardham marked GDNF as ready
Familial pulmonary fibrosis GDNF Alice Gardham commented on GDNF
Familial pulmonary fibrosis FLCN Alice Gardham marked FLCN as ready
Familial pulmonary fibrosis FLCN Alice Gardham commented on FLCN
Familial pulmonary fibrosis ENG Alice Gardham marked ENG as ready
Familial pulmonary fibrosis ENG Alice Gardham commented on ENG
Familial pulmonary fibrosis EDN3 Alice Gardham marked EDN3 as ready
Familial pulmonary fibrosis EDN3 Alice Gardham commented on EDN3
Clefting ARHGAP29 Louise Daugherty classified ARHGAP29 as red
Clefting MEIS2 Louise Daugherty classified MEIS2 as amber
Clefting MEIS2 Louise Daugherty commented on MEIS2
Primary ciliary disorders PIH1D3 Ellen McDonagh edited their review of PIH1D3
Primary ciliary disorders PIH1D3 Ellen McDonagh commented on PIH1D3
Primary ciliary disorders PIH1D3 Ellen McDonagh added PIH1D3 to panel
Primary ciliary disorders PIH1D3 Ellen McDonagh reviewed PIH1D3
Clefting KMT2D Louise Daugherty classified KMT2D as green
Familial pulmonary fibrosis SCNN1G Alice Gardham marked SCNN1G as ready
Familial pulmonary fibrosis SCNN1G Alice Gardham commented on SCNN1G
Familial pulmonary fibrosis SCNN1B Alice Gardham commented on SCNN1B
Familial pulmonary fibrosis SCNN1B Alice Gardham marked SCNN1B as ready
Familial pulmonary fibrosis SCNN1A Alice Gardham marked SCNN1A as ready
Familial pulmonary fibrosis SCNN1A Alice Gardham commented on SCNN1A
Familial pulmonary fibrosis RSPH9 Alice Gardham marked RSPH9 as ready
Familial pulmonary fibrosis RSPH9 Alice Gardham commented on RSPH9
Familial pulmonary fibrosis ELMOD2 Alice Gardham marked ELMOD2 as ready
Familial pulmonary fibrosis ELMOD2 Alice Gardham commented on ELMOD2
Clefting KMT2D Louise Daugherty commented on KMT2D
Clefting KDM6A Louise Daugherty classified KDM6A as green
Familial pulmonary fibrosis CCDC40 Alice Gardham marked CCDC40 as ready
Familial pulmonary fibrosis CCDC40 Alice Gardham commented on CCDC40
Familial pulmonary fibrosis CCDC39 Alice Gardham marked CCDC39 as ready
Familial pulmonary fibrosis CCDC39 Alice Gardham commented on CCDC39
Familial pulmonary fibrosis DNAAF2 Alice Gardham marked DNAAF2 as ready
Familial pulmonary fibrosis DNAAF2 Alice Gardham commented on DNAAF2
Familial pulmonary fibrosis DNAAF1 Alice Gardham marked DNAAF1 as ready
Familial pulmonary fibrosis DNAAF1 Alice Gardham commented on DNAAF1
Familial pulmonary fibrosis DNAH11 Alice Gardham commented on DNAH11
Familial pulmonary fibrosis DNAH11 Alice Gardham marked DNAH11 as ready
Familial pulmonary fibrosis DNAL1 Alice Gardham marked DNAL1 as ready
Familial pulmonary fibrosis DNAL1 Alice Gardham commented on DNAL1
Familial pulmonary fibrosis DNAI2 Alice Gardham marked DNAI2 as ready
Familial pulmonary fibrosis DNAI2 Alice Gardham commented on DNAI2
Familial pulmonary fibrosis DNAI1 Alice Gardham marked DNAI1 as ready
Familial pulmonary fibrosis DNAI1 Alice Gardham commented on DNAI1
Familial pulmonary fibrosis DNAH5 Alice Gardham marked DNAH5 as ready
Familial pulmonary fibrosis DNAH5 Alice Gardham commented on DNAH5
Familial pulmonary fibrosis NME8 Alice Gardham marked NME8 as ready
Familial pulmonary fibrosis NME8 Alice Gardham commented on NME8
Familial pulmonary fibrosis RET Alice Gardham marked RET as ready
Familial pulmonary fibrosis RET Alice Gardham commented on RET
Familial pulmonary fibrosis PHOX2B Alice Gardham marked PHOX2B as ready
Familial pulmonary fibrosis PHOX2B Alice Gardham commented on PHOX2B
Familial pulmonary fibrosis BDNF Alice Gardham marked BDNF as ready
Familial pulmonary fibrosis BDNF Alice Gardham marked BDNF as ready
Familial pulmonary fibrosis BDNF Alice Gardham commented on BDNF
Familial pulmonary fibrosis RSPH4A Alice Gardham marked RSPH4A as ready
Familial pulmonary fibrosis RSPH4A Alice Gardham commented on RSPH4A
Clefting KDM6A Louise Daugherty commented on KDM6A
Clefting ARHGAP29 Louise Daugherty edited their review of ARHGAP29
Familial pulmonary fibrosis SFTPA1 Alice Gardham marked SFTPA1 as ready
Familial pulmonary fibrosis SFTPA1 Alice Gardham reviewed SFTPA1
Familial pulmonary fibrosis SFTPA2 Alice Gardham classified SFTPA2 as red
Familial pulmonary fibrosis SFTPA2 Alice Gardham reviewed SFTPA2
Clefting ARHGAP29 Louise Daugherty commented on ARHGAP29
Clefting ARHGAP29 Louise Daugherty reviewed ARHGAP29
Familial pulmonary fibrosis SFTPB Alice Gardham classified SFTPB as amber
Familial pulmonary fibrosis SFTPB Alice Gardham reviewed SFTPB
Familial pulmonary fibrosis PARN Alice Gardham marked PARN as ready
Familial pulmonary fibrosis PARN Alice Gardham marked PARN as ready
Clefting SPECC1L Louise Daugherty commented on SPECC1L
Familial pulmonary fibrosis PARN Alice Gardham classified PARN as green
Familial pulmonary fibrosis PARN Alice Gardham reviewed PARN
Familial pulmonary fibrosis RTEL1 Alice Gardham marked RTEL1 as ready
Familial pulmonary fibrosis RTEL1 Alice Gardham classified RTEL1 as green
Familial pulmonary fibrosis RTEL1 Alice Gardham commented on RTEL1
Familial pulmonary fibrosis RTEL1 Alice Gardham reviewed RTEL1
Familial pulmonary fibrosis MUC5B Alice Gardham classified MUC5B as red
Familial pulmonary fibrosis MUC5B Alice Gardham reviewed MUC5B
Familial pulmonary fibrosis TERC Alice Gardham marked TERC as ready
Familial pulmonary fibrosis TERC Alice Gardham classified TERC as green
Familial pulmonary fibrosis TERC Alice Gardham commented on TERC
Familial pulmonary fibrosis TERC Alice Gardham reviewed TERC
Familial pulmonary fibrosis TERT Alice Gardham marked TERT as ready
Familial pulmonary fibrosis TERT Alice Gardham reviewed TERT
Familial pulmonary fibrosis SFTPC Alice Gardham marked SFTPC as ready
Familial pulmonary fibrosis SFTPC Alice Gardham reviewed SFTPC
Clefting SOX9 Louise Daugherty commented on SOX9
Clefting FSHMD1A Ellen McDonagh marked FSHMD1A as ready
Corneal abnormalities ZNF469 Chris Campbell reviewed ZNF469
Corneal abnormalities ZEB1 Chris Campbell reviewed ZEB1
Corneal abnormalities UBIAD1 Chris Campbell reviewed UBIAD1
Corneal abnormalities TGFBI Chris Campbell reviewed TGFBI
Corneal abnormalities TACSTD2 Chris Campbell reviewed TACSTD2
Corneal abnormalities SLC4A11 Chris Campbell reviewed SLC4A11
Corneal abnormalities SLC16A12 Chris Campbell reviewed SLC16A12
Corneal abnormalities RAB3GAP2 Chris Campbell reviewed RAB3GAP2
Corneal abnormalities RAB3GAP1 Chris Campbell reviewed RAB3GAP1
Corneal abnormalities RAB18 Chris Campbell reviewed RAB18
Corneal abnormalities PRDM5 Chris Campbell reviewed PRDM5
Corneal abnormalities PIKFYVE Chris Campbell reviewed PIKFYVE
Corneal abnormalities PIK3R1 Chris Campbell reviewed PIK3R1
Corneal abnormalities OVOL2 Chris Campbell reviewed OVOL2
Corneal abnormalities MIR184 Chris Campbell reviewed MIR184
Corneal abnormalities MED25 Chris Campbell reviewed MED25
Corneal abnormalities LAMB2 Chris Campbell reviewed LAMB2
Corneal abnormalities KRT3 Chris Campbell reviewed KRT3
Corneal abnormalities KRT12 Chris Campbell reviewed KRT12
Corneal abnormalities KERA Chris Campbell reviewed KERA
Corneal abnormalities HMX1 Chris Campbell reviewed HMX1
Corneal abnormalities GLS1 Chris Campbell reviewed GLS1*
Corneal abnormalities GJA1 Chris Campbell reviewed GJA1
Corneal abnormalities COL8A2 Chris Campbell reviewed COL8A2
Corneal abnormalities CHST6 Chris Campbell reviewed CHST6
Corneal abnormalities CHRDL1 Chris Campbell reviewed CHRDL1
Corneal abnormalities B3GALTL Chris Campbell reviewed B3GALTL
Corneal abnormalities ALDH18A1 Chris Campbell reviewed ALDH18A1
Corneal abnormalities ADAMTS18 Chris Campbell reviewed ADAMTS18
Corneal abnormalities ABCA3 Chris Campbell reviewed ABCA3
Congenital myaesthenic syndrome PREPL Rebecca Foulger commented on PREPL
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger classified COL13A1 as green
Congenital myaesthenic syndrome SLC18A3 Rebecca Foulger classified SLC18A3 as green
Congenital myaesthenic syndrome LRP4 Rebecca Foulger classified LRP4 as green
Congenital myaesthenic syndrome PREPL Rebecca Foulger commented on PREPL
Congenital myaesthenic syndrome GRN Rebecca Foulger classified GRN as grey
Congenital myaesthenic syndrome GRN Rebecca Foulger commented on GRN
Congenital myaesthenic syndrome AGRN Rebecca Foulger classified AGRN as green
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci marked KCNA1 as ready
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci marked CACNB4 as ready
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci marked CACNA1A as ready
Severe microcephaly CRIPT Rebecca Foulger classified CRIPT as amber
Severe microcephaly CRIPT Rebecca Foulger commented on CRIPT
Severe microcephaly KIAA1279 Rebecca Foulger classified KIAA1279 as green
Severe microcephaly KIAA1279 Rebecca Foulger commented on KIAA1279
Severe microcephaly LARP7 Rebecca Foulger classified LARP7 as green
Severe microcephaly LARP7 Rebecca Foulger edited their review of LARP7
Severe microcephaly LARP7 Rebecca Foulger commented on LARP7
Severe microcephaly ATRX Rebecca Foulger edited their review of ATRX
Severe microcephaly ATRX Rebecca Foulger classified ATRX as green
Severe microcephaly ATRX Rebecca Foulger commented on ATRX
Early onset dementia (encompassing fronto-temporal dementia and prion disease) PSEN1 Louise Daugherty commented on PSEN1
Severe microcephaly CREBBP Rebecca Foulger marked CREBBP as ready
Severe microcephaly MYCN Rebecca Foulger marked MYCN as ready
Severe microcephaly MYCN Rebecca Foulger classified MYCN as green
Severe microcephaly MYCN Rebecca Foulger commented on MYCN
Severe microcephaly CREBBP Rebecca Foulger classified CREBBP as green
Severe microcephaly CREBBP Rebecca Foulger commented on CREBBP
Severe microcephaly MYCN emma baple reviewed MYCN
Severe microcephaly KIAA1279 emma baple reviewed KIAA1279
Severe microcephaly CREBBP emma baple reviewed CREBBP
Severe microcephaly ATRX emma baple reviewed ATRX
Severe microcephaly SLX4 emma baple reviewed SLX4
Severe microcephaly RAD51C emma baple reviewed RAD51C
Severe microcephaly PALB2 emma baple reviewed PALB2
Severe microcephaly FANCL emma baple reviewed FANCL
Severe microcephaly FANCI emma baple reviewed FANCI
Severe microcephaly FANCG emma baple reviewed FANCG
Severe microcephaly FANCF emma baple reviewed FANCF
Severe microcephaly FANCE emma baple reviewed FANCE
Severe microcephaly FANCD2 emma baple reviewed FANCD2
Severe microcephaly FANCC emma baple reviewed FANCC
Severe microcephaly FANCB emma baple reviewed FANCB
Severe microcephaly FANCA emma baple reviewed FANCA
Severe microcephaly ERCC8 emma baple reviewed ERCC8
Severe microcephaly ERCC6 emma baple reviewed ERCC6
Severe microcephaly BRIP1 emma baple reviewed BRIP1
Severe microcephaly BRCA2 emma baple reviewed BRCA2
Undiagnosed metabolic disorders C1GALT1C1 Sarah Leigh marked C1GALT1C1 as ready
Undiagnosed metabolic disorders C1GALT1C1 Sarah Leigh commented on C1GALT1C1
Undiagnosed metabolic disorders SLC52A1 Sarah Leigh marked SLC52A1 as ready
Undiagnosed metabolic disorders RBCK1 Sarah Leigh marked RBCK1 as ready
Undiagnosed metabolic disorders RBCK1 Sarah Leigh commented on RBCK1
Undiagnosed metabolic disorders RBCK1 Sarah Leigh classified RBCK1 as green
Undiagnosed metabolic disorders NAT8L Sarah Leigh marked NAT8L as ready
Undiagnosed metabolic disorders MTHFD1 Sarah Leigh marked MTHFD1 as ready
Undiagnosed metabolic disorders DHFRL1 Sarah Leigh commented on DHFRL1
Congenital adrenal hypoplasia Ellen McDonagh promoted panel to version 1
Congenital adrenal hypoplasia MCM4 Ellen McDonagh marked MCM4 as ready
Congenital adrenal hypoplasia MCM4 Ellen McDonagh classified MCM4 as amber
Congenital adrenal hypoplasia TBX19 Ellen McDonagh marked TBX19 as ready
Congenital adrenal hypoplasia TBX19 Ellen McDonagh classified TBX19 as green
Congenital adrenal hypoplasia HSD3B2 Ellen McDonagh marked HSD3B2 as ready
Congenital adrenal hypoplasia HSD3B2 Ellen McDonagh classified HSD3B2 as red
Ocular coloboma Alice Gardham promoted panel to version 1
Unexplained kidney failure in young people CTNS Sarah Leigh added CTNS to panel
Unexplained kidney failure in young people CTNS Sarah Leigh reviewed CTNS
Renal tubulopathies CTNS Sarah Leigh added CTNS to panel
Renal tubulopathies CTNS Sarah Leigh reviewed CTNS
Early onset dementia (encompassing fronto-temporal dementia and prion disease) DNAJC5 Sarah Leigh added DNAJC5 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) DNAJC5 Sarah Leigh reviewed DNAJC5
Hereditary ataxia DNAJC5 Sarah Leigh added DNAJC5 to panel
Hereditary ataxia DNAJC5 Sarah Leigh reviewed DNAJC5
Congenital myaesthenic syndrome GMPPB Rebecca Foulger classified GMPPB as green
Hereditary ataxia EPM2A Sarah Leigh added EPM2A to panel
Hereditary ataxia EPM2A Sarah Leigh reviewed EPM2A
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Early onset dementia (encompassing fronto-temporal dementia and prion disease) EPM2A Sarah Leigh added EPM2A to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) EPM2A Sarah Leigh reviewed EPM2A
Renal tubulopathies FAH Sarah Leigh added FAH to panel
Renal tubulopathies FAH Sarah Leigh reviewed FAH
Hereditary ataxia NHLRC1 Sarah Leigh added NHLRC1 to panel
Hereditary ataxia NHLRC1 Sarah Leigh reviewed NHLRC1
Early onset dementia (encompassing fronto-temporal dementia and prion disease) NHLRC1 Sarah Leigh added NHLRC1 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) NHLRC1 Sarah Leigh reviewed NHLRC1
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Congenital myaesthenic syndrome PLEC Rebecca Foulger commented on PLEC
Familial diabetes PCBD1 Sarah Leigh classified PCBD1 as amber
Familial diabetes PCBD1 Sarah Leigh commented on PCBD1
Familial diabetes PCBD1 Sarah Leigh classified PCBD1 as amber
Congenital myaesthenic syndrome SNAP25 Rebecca Foulger commented on SNAP25
Congenital myaesthenic syndrome PREPL Rebecca Foulger commented on PREPL
Congenital myaesthenic syndrome PREPL Rebecca Foulger commented on PREPL
Congenital myaesthenic syndrome LAMB2 Rebecca Foulger commented on LAMB2
Intellectual disability SLC6A19 Sarah Leigh classified SLC6A19 as green
Intellectual disability SLC6A19 Sarah Leigh classified SLC6A19 as green
Intellectual disability SLC6A19 Sarah Leigh classified SLC6A19 as green
Intellectual disability SLC6A19 Sarah Leigh added SLC6A19 to panel
Intellectual disability SLC6A19 Sarah Leigh reviewed SLC6A19
Congenital myopathy HRAS Helen Brittain marked HRAS as ready
Periodic fever syndromes APP Alice Gardham marked APP as ready
Congenital myopathy HRAS Helen Brittain classified HRAS as red
Congenital myopathy TTN Helen Brittain marked TTN as ready
Congenital myopathy TTN Helen Brittain classified TTN as green
Congenital myopathy SLC25A4 Helen Brittain marked SLC25A4 as ready
Congenital myopathy SLC25A4 Helen Brittain classified SLC25A4 as green
Congenital myopathy MYH3 Helen Brittain marked MYH3 as ready
Congenital myopathy MYH3 Helen Brittain classified MYH3 as red
Congenital myopathy RBCK1 Helen Brittain marked RBCK1 as ready
Congenital myopathy RBCK1 Helen Brittain classified RBCK1 as red
Congenital myopathy TNNT3 Helen Brittain marked TNNT3 as ready
Congenital myopathy TNNI2 Helen Brittain marked TNNI2 as ready
Congenital myopathy TIA1 Helen Brittain marked TIA1 as ready
Congenital myopathy STIM2 Helen Brittain marked STIM2 as ready
Congenital myopathy STAC3 Helen Brittain marked STAC3 as ready
Congenital myopathy STAC3 Helen Brittain classified STAC3 as red
Congenital myopathy SLC25A42 Helen Brittain marked SLC25A42 as ready
Congenital myopathy SLC25A42 Helen Brittain classified SLC25A42 as red
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myopathy ORAI1 Helen Brittain classified ORAI1 as green
Congenital myopathy ORAI1 Helen Brittain marked ORAI1 as ready
Congenital myopathy MYH8 Helen Brittain marked MYH8 as ready
Congenital myopathy MYH14 Helen Brittain marked MYH14 as ready
Congenital myopathy MYBPC1 Helen Brittain marked MYBPC1 as ready
Congenital myopathy MT-TL1 Helen Brittain marked MT-TL1 as ready
Congenital myopathy MICU1 Helen Brittain marked MICU1 as ready
Congenital myopathy MICU1 Helen Brittain classified MICU1 as green
Congenital myopathy KLHL41 Helen Brittain marked KLHL41 as ready
Congenital myopathy KLHL41 Helen Brittain classified KLHL41 as green
Congenital myopathy KLHL40 Helen Brittain marked KLHL40 as ready
Congenital myopathy KLHL40 Helen Brittain classified KLHL40 as green
Congenital myopathy KLHL40 Helen Brittain marked KLHL40 as ready
Congenital myopathy ISCU Helen Brittain marked ISCU as ready
Congenital myopathy HNRNPA1 Helen Brittain marked HNRNPA1 as ready
Congenital myopathy GFER Helen Brittain marked GFER as ready
Congenital myopathy FLNC Helen Brittain marked FLNC as ready
Congenital myopathy FKBP14 Helen Brittain marked FKBP14 as ready
Congenital myopathy FKBP14 Helen Brittain classified FKBP14 as green
Congenital myopathy FAM111B Helen Brittain marked FAM111B as ready
Congenital myopathy ECEL1 Helen Brittain marked ECEL1 as ready
Congenital myopathy DYSF Helen Brittain marked DYSF as ready
Congenital myopathy DNAJB6 Helen Brittain marked DNAJB6 as ready
Congenital myopathy CPT2 Helen Brittain marked CPT2 as ready
Congenital myopathy COL9A3 Helen Brittain marked COL9A3 as ready
Congenital myopathy COL9A3 Helen Brittain classified COL9A3 as red
Congenital myopathy CNTN1 Helen Brittain marked CNTN1 as ready
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as red
Congenital myopathy CHCHD10 Helen Brittain marked CHCHD10 as ready
Congenital myopathy CHCHD10 Helen Brittain classified CHCHD10 as red
Congenital myopathy CCDC78 Helen Brittain marked CCDC78 as ready
Congenital myopathy CCDC78 Helen Brittain classified CCDC78 as red
Congenital myopathy CAV3 Helen Brittain marked CAV3 as ready
Congenital myopathy YARS2 Helen Brittain marked YARS2 as ready
Congenital myopathy YARS2 Helen Brittain classified YARS2 as red
Congenital myopathy VCP Helen Brittain marked VCP as ready
Congenital myopathy VCP Helen Brittain classified VCP as red
Congenital myopathy STIM1 Helen Brittain marked STIM1 as ready
Congenital myopathy STIM1 Helen Brittain classified STIM1 as green
Congenital myopathy SEPN1 Helen Brittain marked SEPN1 as ready
Congenital myopathy SEPN1 Helen Brittain classified SEPN1 as green
Congenital myopathy RYR1 Helen Brittain marked RYR1 as ready
Congenital myopathy RYR1 Helen Brittain classified RYR1 as green
Congenital myopathy PUS1 Helen Brittain marked PUS1 as ready
Congenital myopathy PUS1 Helen Brittain classified PUS1 as red
Congenital myopathy PNPLA2 Helen Brittain marked PNPLA2 as ready
Congenital myopathy PNPLA2 Helen Brittain classified PNPLA2 as red
Congenital myopathy MYOT Helen Brittain marked MYOT as ready
Congenital myopathy MYOT Helen Brittain classified MYOT as red
Congenital myopathy MYF6 Helen Brittain marked MYF6 as ready
Congenital myopathy MYF6 Helen Brittain classified MYF6 as red
Congenital myopathy MEGF10 Helen Brittain marked MEGF10 as ready
Congenital myopathy MEGF10 Helen Brittain classified MEGF10 as green
Congenital myopathy MATR3 Helen Brittain marked MATR3 as ready
Congenital myopathy MATR3 Helen Brittain classified MATR3 as red
Congenital myopathy LDB3 Helen Brittain marked LDB3 as ready
Congenital myopathy LDB3 Helen Brittain classified LDB3 as red
Congenital myopathy GNE Helen Brittain marked GNE as ready
Congenital myopathy GNE Helen Brittain classified GNE as red
Congenital myopathy CRYAB Helen Brittain marked CRYAB as ready
Congenital myopathy CRYAB Helen Brittain classified CRYAB as red
Congenital myopathy BAG3 Helen Brittain marked BAG3 as ready
Congenital myopathy BAG3 Helen Brittain classified BAG3 as red
Mitochondrial disorders TANGO2 Ellen McDonagh classified TANGO2 as green
Mitochondrial disorders TANGO2 Ellen McDonagh commented on TANGO2
Intellectual disability TANGO2 Ellen McDonagh classified TANGO2 as green
Intellectual disability TANGO2 Ellen McDonagh commented on TANGO2
Non-syndromic hypotrichosis HR Rebecca Foulger classified HR as green
Congenital myaesthenic syndrome SYT2 Rebecca Foulger classified SYT2 as red
Skeletal Muscle Channelopathies KCNQ2 Arianna Tucci marked KCNQ2 as ready
Skeletal Muscle Channelopathies KCNQ2 Arianna Tucci commented on KCNQ2
Skeletal Muscle Channelopathies CNBP Arianna Tucci marked CNBP as ready
Skeletal Muscle Channelopathies CNBP Arianna Tucci marked CNBP as ready
Skeletal Muscle Channelopathies CNBP Arianna Tucci commented on CNBP
Skeletal Muscle Channelopathies ATP2A1 Arianna Tucci marked ATP2A1 as ready
Skeletal Muscle Channelopathies ATP2A1 Arianna Tucci classified ATP2A1 as green
Skeletal Muscle Channelopathies ADCY5 Arianna Tucci reviewed ADCY5
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci marked SLC1A3 as ready
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci marked SLC1A3 as ready
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci marked KCNJ18 as ready
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci classified KCNJ18 as amber
Congenital myaesthenic syndrome SLC5A7 Rebecca Foulger classified SLC5A7 as green
Congenital myaesthenic syndrome SLC5A7 Rebecca Foulger edited their review of SLC5A7
Congenital myaesthenic syndrome SLC5A7 Rebecca Foulger commented on SLC5A7
Skeletal Muscle Channelopathies SCN4A Arianna Tucci marked SCN4A as ready
Congenital myaesthenic syndrome SLC18A3 Rebecca Foulger commented on SLC18A3
Congenital myaesthenic syndrome SLC18A3 Rebecca Foulger commented on SLC18A3
Congenital myaesthenic syndrome SLC18A3 Rebecca Foulger commented on SLC18A3
Congenital myaesthenic syndrome LRP4 Rebecca Foulger commented on LRP4
Intellectual disability IL1RAPL2 Ellen McDonagh added IL1RAPL2 to panel
Intellectual disability IL1RAPL2 Ellen McDonagh reviewed IL1RAPL2
Congenital myaesthenic syndrome GFPT1 Rebecca Foulger edited their review of GFPT1
Intellectual disability IL1RAPL1 Ellen McDonagh reviewed IL1RAPL1
Congenital myaesthenic syndrome SYT2 Rebecca Foulger commented on SYT2
Congenital adrenal hypoplasia TBX19 Ellen McDonagh edited their review of TBX19
Congenital adrenal hypoplasia TBX19 Ellen McDonagh classified TBX19 as amber
Congenital adrenal hypoplasia TBX19 Ellen McDonagh commented on TBX19
Periodic fever syndromes APOC3 Alice Gardham classified APOC3 as amber
Periodic fever syndromes APOC3 Alice Gardham added APOC3 to panel
Periodic fever syndromes APOC3 Alice Gardham reviewed APOC3
Periodic fever syndromes APOC2 Alice Gardham classified APOC2 as amber
Periodic fever syndromes APOC2 Alice Gardham added APOC2 to panel
Periodic fever syndromes APOC2 Alice Gardham reviewed APOC2
Congenital adrenal hypoplasia HSD3B2 Ellen McDonagh classified HSD3B2 as amber
Congenital adrenal hypoplasia HSD3B2 Ellen McDonagh commented on HSD3B2
Congenital myaesthenic syndrome LRP4 Rebecca Foulger commented on LRP4
Congenital myaesthenic syndrome LRP4 Rebecca Foulger commented on LRP4
Congenital adrenal hypoplasia MCM4 Ellen McDonagh commented on MCM4
Periodic fever syndromes OSMR Alice Gardham marked OSMR as ready
Periodic fever syndromes TRNT1 Alice Gardham marked TRNT1 as ready
Periodic fever syndromes TRNT1 Alice Gardham commented on TRNT1
Periodic fever syndromes APOA1 Alice Gardham marked APOA1 as ready
Congenital myaesthenic syndrome GMPPB Rebecca Foulger commented on GMPPB
Periodic fever syndromes CST3 Alice Gardham marked CST3 as ready
Periodic fever syndromes B2M Alice Gardham marked B2M as ready
Periodic fever syndromes GSN Alice Gardham classified GSN as green
Periodic fever syndromes APOA2 Alice Gardham classified APOA2 as green
Periodic fever syndromes FGA Alice Gardham classified FGA as green
Periodic fever syndromes LYZ Alice Gardham classified LYZ as green
Intellectual disability TANGO2 Richard Scott added TANGO2 to panel
Intellectual disability TANGO2 Richard Scott reviewed TANGO2
Mitochondrial disorders TANGO2 Richard Scott added TANGO2 to panel
Mitochondrial disorders TANGO2 Richard Scott reviewed TANGO2
Congenital myopathy TPM3 Helen Brittain marked TPM3 as ready
Congenital myopathy TPM3 Helen Brittain classified TPM3 as green
Congenital myopathy TPM2 Helen Brittain marked TPM2 as ready
Congenital myopathy TNNT1 Helen Brittain marked TNNT1 as ready
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger classified COL13A1 as amber
Congenital myopathy NEB Helen Brittain marked NEB as ready
Congenital myopathy MYH7 Helen Brittain marked MYH7 as ready
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger commented on COL13A1
Congenital myopathy MYH2 Helen Brittain marked MYH2 as ready
Congenital myopathy MYH2 Helen Brittain marked MYH2 as ready
Ocular coloboma RARB Alice Gardham marked RARB as ready
Ocular coloboma RARB Alice Gardham classified RARB as green
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger commented on COL13A1
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger edited their review of COL13A1
Ocular coloboma YAP1 Alice Gardham classified YAP1 as green
Ocular coloboma MAB21L2 Alice Gardham marked MAB21L2 as ready
Ocular coloboma MAB21L2 Alice Gardham classified MAB21L2 as green
Congenital myopathy MTM1 Helen Brittain marked MTM1 as ready
Congenital myopathy KBTBD13 Helen Brittain marked KBTBD13 as ready
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger commented on COL13A1
Congenital myopathy DNM2 Helen Brittain marked DNM2 as ready
Periodic fever syndromes MEFV Alice Gardham commented on MEFV
Congenital myaesthenic syndrome ALG14 Rebecca Foulger classified ALG14 as red
Congenital myopathy DES Helen Brittain marked DES as ready
Periodic fever syndromes ELANE Alice Gardham marked ELANE as ready
Congenital myaesthenic syndrome ALG14 Rebecca Foulger commented on ALG14
Periodic fever syndromes ELANE Alice Gardham classified ELANE as green
Periodic fever syndromes ELANE Alice Gardham commented on ELANE
Congenital myopathy DES Helen Brittain classified DES as red
Congenital myopathy COL6A3 Helen Brittain marked COL6A3 as ready
Periodic fever syndromes PSMB8 Alice Gardham marked PSMB8 as ready
Congenital myaesthenic syndrome CHRNG Rebecca Foulger marked CHRNG as ready
Periodic fever syndromes PSMB8 Alice Gardham classified PSMB8 as green
Periodic fever syndromes PSMB8 Alice Gardham reviewed PSMB8
Congenital myaesthenic syndrome CHRNG Rebecca Foulger classified CHRNG as green
Congenital myopathy COL6A2 Helen Brittain marked COL6A2 as ready
Congenital myaesthenic syndrome CHRNG Rebecca Foulger commented on CHRNG
Periodic fever syndromes IL36RN Alice Gardham classified IL36RN as green
Congenital myaesthenic syndrome CHRNG Rebecca Foulger edited their review of CHRNG
Congenital myopathy COL6A1 Helen Brittain marked COL6A1 as ready
Periodic fever syndromes LPIN2 Alice Gardham marked LPIN2 as ready
Periodic fever syndromes LPIN2 Alice Gardham classified LPIN2 as green
Congenital myopathy CFL2 Helen Brittain marked CFL2 as ready
Congenital myopathy CFL2 Helen Brittain classified CFL2 as green
Congenital myopathy BIN1 Helen Brittain marked BIN1 as ready
Periodic fever syndromes NOD2 Alice Gardham marked NOD2 as ready
Periodic fever syndromes NOD2 Alice Gardham classified NOD2 as green
Periodic fever syndromes NOD2 Alice Gardham reviewed NOD2
Periodic fever syndromes PSTPIP1 Alice Gardham marked PSTPIP1 as ready
Periodic fever syndromes PSTPIP1 Alice Gardham classified PSTPIP1 as green
Congenital myopathy ATP2A1 Helen Brittain marked ATP2A1 as ready
Congenital myopathy ATP2A1 Helen Brittain classified ATP2A1 as red
Periodic fever syndromes IL1RN Alice Gardham classified IL1RN as green
Periodic fever syndromes TNFRSF1A Alice Gardham classified TNFRSF1A as green
Periodic fever syndromes TNFRSF1A Alice Gardham commented on TNFRSF1A
Ocular coloboma PAX2 David FitzPatrick reviewed PAX2
Ocular coloboma CHD7 David FitzPatrick reviewed CHD7
Ocular coloboma BMP4 David FitzPatrick reviewed BMP4
Ocular coloboma YAP1 Rebecca Foulger commented on YAP1
Kleine-Levin syndrome Sarah Leigh promoted panel to version 1
Periodic fever syndromes B2M Alice Gardham added B2M to panel
Periodic fever syndromes B2M Alice Gardham reviewed B2M
Periodic fever syndromes APP Alice Gardham added APP to panel
Periodic fever syndromes APP Alice Gardham reviewed APP
Periodic fever syndromes CST3 Alice Gardham added CST3 to panel
Periodic fever syndromes CST3 Alice Gardham reviewed CST3
Periodic fever syndromes APOA2 Alice Gardham marked APOA2 as ready
Periodic fever syndromes APOA2 Alice Gardham classified APOA2 as green
Periodic fever syndromes APOA2 Alice Gardham added APOA2 to panel
Periodic fever syndromes APOA2 Alice Gardham reviewed APOA2
Periodic fever syndromes OSMR Alice Gardham classified OSMR as green
Periodic fever syndromes OSMR Alice Gardham reviewed OSMR
Periodic fever syndromes NLRC4 Alice Gardham marked NLRC4 as ready
Periodic fever syndromes NLRC4 Alice Gardham reviewed NLRC4
Periodic fever syndromes IL36RN Alice Gardham marked IL36RN as ready
Periodic fever syndromes IL36RN Alice Gardham commented on IL36RN
Periodic fever syndromes IL31RA Alice Gardham marked IL31RA as ready
Periodic fever syndromes IL31RA Alice Gardham reviewed IL31RA
Periodic fever syndromes IL1RN Alice Gardham marked IL1RN as ready
Periodic fever syndromes IL1RN Alice Gardham commented on IL1RN
Periodic fever syndromes HTR1A Alice Gardham marked HTR1A as ready
Periodic fever syndromes HTR1A Alice Gardham commented on HTR1A
Periodic fever syndromes PSTPIP1 Alice Gardham commented on PSTPIP1
Periodic fever syndromes PSTPIP1 Alice Gardham classified PSTPIP1 as red
Periodic fever syndromes LYZ Alice Gardham marked LYZ as ready
Periodic fever syndromes LYZ Alice Gardham classified LYZ as green
Periodic fever syndromes LYZ Alice Gardham reviewed LYZ
Periodic fever syndromes LPIN2 Alice Gardham marked LPIN2 as ready
Periodic fever syndromes LPIN2 Alice Gardham classified LPIN2 as red
Periodic fever syndromes LPIN2 Alice Gardham commented on LPIN2
Periodic fever syndromes GSN Alice Gardham marked GSN as ready
Periodic fever syndromes GSN Alice Gardham classified GSN as green
Periodic fever syndromes GSN Alice Gardham reviewed GSN
Periodic fever syndromes APOA1 Alice Gardham classified APOA1 as green
Periodic fever syndromes APOA1 Alice Gardham reviewed APOA1
Distal myopathies CNBP Arianna Tucci added CNBP to panel
Distal myopathies CNBP Arianna Tucci reviewed CNBP
Distal myopathies DMPK Arianna Tucci reviewed DMPK
Distal myopathies VCP Arianna Tucci added VCP to panel
Distal myopathies VCP Arianna Tucci reviewed VCP
Distal myopathies NEB Arianna Tucci added NEB to panel
Distal myopathies NEB Arianna Tucci reviewed NEB
Distal myopathies MATR3 Arianna Tucci reviewed MATR3
Distal myopathies DNAJB6 Arianna Tucci added DNAJB6 to panel
Distal myopathies DNAJB6 Arianna Tucci reviewed DNAJB6
Distal myopathies BAG3 Arianna Tucci added BAG3 to panel
Distal myopathies BAG3 Arianna Tucci reviewed BAG3
Distal myopathies FLNC Arianna Tucci added FLNC to panel
Distal myopathies FLNC Arianna Tucci reviewed FLNC
Distal myopathies LDB3 Arianna Tucci reviewed LDB3
Distal myopathies MYOT Arianna Tucci reviewed MYOT
Mitochondrial disorders FLAD1 Ellen McDonagh marked FLAD1 as ready
Mitochondrial disorders FLAD1 Ellen McDonagh classified FLAD1 as green
Mitochondrial disorders FLAD1 Ellen McDonagh commented on FLAD1
Ocular coloboma HMX1 Ellen McDonagh reviewed HMX1
Ocular coloboma YAP1 Ellen McDonagh reviewed YAP1
Distal myopathies DES Arianna Tucci reviewed DES
Distal myopathies CRYAB Arianna Tucci commented on CRYAB
Distal myopathies CRYAB Arianna Tucci reviewed CRYAB
Distal myopathies ANO5 Arianna Tucci added ANO5 to panel
Distal myopathies ANO5 Arianna Tucci reviewed ANO5
Distal myopathies TIA1 Arianna Tucci reviewed TIA1
Distal myopathies DYSF Arianna Tucci added DYSF to panel
Distal myopathies DYSF Arianna Tucci reviewed DYSF
Distal myopathies GNE Arianna Tucci added GNE to panel
Distal myopathies GNE Arianna Tucci reviewed GNE
Congenital myaesthenic syndrome CHRNG Rebecca Foulger commented on CHRNG
Distal myopathies TTN Arianna Tucci reviewed TTN
Congenital myopathy ACTA1 Ellen McDonagh marked ACTA1 as ready
Distal myopathies MYH7 Arianna Tucci reviewed MYH7
Congenital myaesthenic syndrome AGRN Rebecca Foulger commented on AGRN
Congenital myaesthenic syndrome AGRN Rebecca Foulger commented on AGRN
Congenital myaesthenic syndrome AGRN Rebecca Foulger edited their review of AGRN
Congenital myaesthenic syndrome AGRN Rebecca Foulger commented on AGRN
Congenital myaesthenic syndrome ALG2 Rebecca Foulger commented on ALG2
Congenital myaesthenic syndrome ALG2 Rebecca Foulger commented on ALG2
Congenital myaesthenic syndrome ALG2 Rebecca Foulger edited their review of ALG2
Congenital myaesthenic syndrome ALG2 Rebecca Foulger commented on ALG2
Paediatric motor neuronopathies TRPV4 Arianna Tucci reviewed TRPV4
Paediatric motor neuronopathies AARS Arianna Tucci reviewed AARS
Paediatric motor neuronopathies VAPB Arianna Tucci reviewed VAPB
Congenital myopathy TNNT3 Helen Brittain reviewed TNNT3
Congenital myopathy TNNI2 Helen Brittain reviewed TNNI2
Paediatric motor neuronopathies SETX Arianna Tucci reviewed SETX
Congenital myopathy TIA1 Helen Brittain reviewed TIA1
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger marked DPAGT1 as ready
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger classified DPAGT1 as green
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger commented on DPAGT1
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger commented on DPAGT1
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger edited their review of DPAGT1
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger commented on DPAGT1
Congenital myaesthenic syndrome COLQ Rebecca Foulger marked COLQ as ready
Congenital myaesthenic syndrome COLQ Rebecca Foulger classified COLQ as green
Congenital myaesthenic syndrome COLQ Rebecca Foulger edited their review of COLQ
Paediatric motor neuronopathies HSPB8 Arianna Tucci reviewed HSPB8
Congenital myopathy STIM2 Helen Brittain reviewed STIM2
Congenital myaesthenic syndrome COLQ Rebecca Foulger commented on COLQ
Paediatric motor neuronopathies HSPB1 Arianna Tucci reviewed HSPB1
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myopathy STAC3 Helen Brittain reviewed STAC3
Congenital myaesthenic syndrome RAPSN Rebecca Foulger marked RAPSN as ready
Congenital myaesthenic syndrome RAPSN Rebecca Foulger commented on RAPSN
Paediatric motor neuronopathies EXOSC8 Arianna Tucci reviewed EXOSC8
Congenital myaesthenic syndrome RAPSN Rebecca Foulger edited their review of RAPSN
Congenital myaesthenic syndrome RAPSN Rebecca Foulger commented on RAPSN
Congenital myopathy SLC25A42 Helen Brittain reviewed SLC25A42
Paediatric motor neuronopathies ALS2 Arianna Tucci commented on ALS2
Paediatric motor neuronopathies ALS2 Arianna Tucci reviewed ALS2
Congenital myopathy SLC25A4 Helen Brittain reviewed SLC25A4
Congenital myopathy RBCK1 Helen Brittain reviewed RBCK1
Congenital myopathy ORAI1 Helen Brittain reviewed ORAI1
Pneumothorax - familial ALDH18A1 Olivia Niblock marked ALDH18A1 as ready
Congenital myopathy MYH8 Helen Brittain reviewed MYH8
Pneumothorax - familial TGFBR1 Olivia Niblock marked TGFBR1 as ready
Pneumothorax - familial SMAD3 Olivia Niblock marked SMAD3 as ready
Congenital myopathy MYH3 Helen Brittain reviewed MYH3
Congenital myopathy MYH14 Helen Brittain reviewed MYH14
Congenital myopathy MYBPC1 Helen Brittain reviewed MYBPC1
Congenital myopathy MT-TL1 Helen Brittain reviewed MT-TL1
Congenital myopathy MICU1 Helen Brittain reviewed MICU1
Congenital myopathy KLHL41 Helen Brittain reviewed KLHL41
Congenital myopathy KLHL40 Helen Brittain reviewed KLHL40
Congenital myopathy ISCU Helen Brittain reviewed ISCU
Congenital myopathy HRAS Helen Brittain reviewed HRAS
Periodic fever syndromes FGA Alice Gardham marked FGA as ready
Periodic fever syndromes FGA Alice Gardham classified FGA as green
Periodic fever syndromes FGA Alice Gardham reviewed FGA
Periodic fever syndromes TTR Alice Gardham marked TTR as ready
Periodic fever syndromes TTR Alice Gardham reviewed TTR
Congenital myopathy HNRNPA1 Helen Brittain reviewed HNRNPA1
Periodic fever syndromes TNFRSF1A Alice Gardham marked TNFRSF1A as ready
Periodic fever syndromes NLRP3 Alice Gardham marked NLRP3 as ready
Periodic fever syndromes NLRP12 Alice Gardham marked NLRP12 as ready
Congenital myopathy GFER Helen Brittain reviewed GFER
Periodic fever syndromes NLRP12 Alice Gardham marked NLRP12 as ready
Periodic fever syndromes MVK Alice Gardham marked MVK as ready
Periodic fever syndromes MEFV Alice Gardham marked MEFV as ready
Congenital myopathy FLNC Helen Brittain reviewed FLNC
Congenital myopathy FKBP14 Helen Brittain reviewed FKBP14
Congenital myopathy FAM111B Helen Brittain reviewed FAM111B
Congenital myopathy ECEL1 Helen Brittain reviewed ECEL1
Congenital myopathy DYSF Helen Brittain reviewed DYSF
Congenital myopathy DNAJB6 Helen Brittain reviewed DNAJB6
Congenital myopathy CPT2 Helen Brittain reviewed CPT2
Congenital myopathy COL9A3 Helen Brittain reviewed COL9A3
Congenital myopathy CNTN1 Helen Brittain reviewed CNTN1
Congenital myopathy CHCHD10 Helen Brittain reviewed CHCHD10
Congenital myopathy CCDC78 Helen Brittain reviewed CCDC78
Paediatric motor neuronopathies CHCHD10 Alice Gardham classified CHCHD10 as green
Congenital myopathy CCDC78 Helen Brittain reviewed CCDC78
Congenital myopathy CAV3 Helen Brittain reviewed CAV3
Severe microcephaly KIAA1279 Rebecca Foulger commented on KIAA1279
Congenital myopathy YARS2 Helen Brittain reviewed YARS2
Congenital myopathy VCP Helen Brittain reviewed VCP
Congenital myopathy STIM1 Helen Brittain reviewed STIM1
Congenital myopathy SEPN1 Helen Brittain reviewed SEPN1
Congenital myopathy RYR1 Helen Brittain reviewed RYR1
Congenital myopathy PUS1 Helen Brittain reviewed PUS1
Clefting SLC26A2 Louise Daugherty commented on SLC26A2
Congenital muscular dystrophy B4GAT1 Ellen McDonagh classified B4GAT1 as green
Congenital myaesthenic syndrome LRP4 David Beeson added LRP4 to panel
Congenital myaesthenic syndrome LRP4 David Beeson reviewed LRP4
Congenital myaesthenic syndrome SLC18A3 David Beeson added SLC18A3 to panel
Congenital myaesthenic syndrome SLC18A3 David Beeson reviewed SLC18A3
Congenital myaesthenic syndrome GMPPB David Beeson added GMPPB to panel
Congenital myaesthenic syndrome GMPPB David Beeson reviewed GMPPB
Congenital myaesthenic syndrome CHRNG David Beeson reviewed CHRNG
Congenital myaesthenic syndrome SLC5A7 David Beeson added SLC5A7 to panel
Congenital myaesthenic syndrome SLC5A7 David Beeson reviewed SLC5A7
Intellectual disability CLCN4 Ellen Thomas classified CLCN4 as red
Intellectual disability CLCN4 Ellen Thomas commented on CLCN4
Intellectual disability CLCN4 Ellen Thomas classified CLCN4 as red
Pneumothorax - familial TGFBR1 Olivia Niblock classified TGFBR1 as amber
Pneumothorax - familial TGFBR1 Olivia Niblock commented on TGFBR1
Congenital muscular dystrophy Ellen McDonagh promoted panel to version 1
Congenital muscular dystrophy TCAP Ellen McDonagh marked TCAP as ready
Congenital muscular dystrophy TCAP Ellen McDonagh classified TCAP as amber
Congenital muscular dystrophy SYNE1 Ellen McDonagh marked SYNE1 as ready
Congenital muscular dystrophy SYNE1 Ellen McDonagh classified SYNE1 as green
Congenital muscular dystrophy ITGA7 Ellen McDonagh marked ITGA7 as ready
Congenital muscular dystrophy ITGA7 Ellen McDonagh classified ITGA7 as green
Congenital muscular dystrophy EMD Ellen McDonagh marked EMD as ready
Congenital muscular dystrophy EMD Ellen McDonagh classified EMD as red
Congenital muscular dystrophy DYSF Ellen McDonagh marked DYSF as ready
Congenital muscular dystrophy DYSF Ellen McDonagh classified DYSF as amber
Congenital muscular dystrophy DPM3 Ellen McDonagh marked DPM3 as ready
Congenital muscular dystrophy DPM3 Ellen McDonagh classified DPM3 as amber
Congenital muscular dystrophy DPM2 Ellen McDonagh marked DPM2 as ready
Congenital muscular dystrophy DPM2 Ellen McDonagh classified DPM2 as green
Congenital muscular dystrophy DPM2 Ellen McDonagh classified DPM2 as green
Congenital muscular dystrophy DPM1 Ellen McDonagh marked DPM1 as ready
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy COL4A1 Ellen McDonagh marked COL4A1 as ready
Congenital muscular dystrophy COL4A1 Ellen McDonagh classified COL4A1 as amber
Congenital muscular dystrophy B4GAT1 Ellen McDonagh marked B4GAT1 as ready
Congenital muscular dystrophy B4GAT1 Ellen McDonagh classified B4GAT1 as amber
Congenital muscular dystrophy B4GAT1 Ellen McDonagh commented on B4GAT1
Congenital muscular dystrophy ACTA1 Ellen McDonagh marked ACTA1 as ready
Congenital muscular dystrophy ACTA1 Ellen McDonagh classified ACTA1 as amber
Congenital muscular dystrophy ACTA1 Ellen McDonagh commented on ACTA1
Intellectual disability KDM1A Louise Daugherty commented on KDM1A
Clefting FLNA Louise Daugherty classified FLNA as amber
Clefting MSX1 Louise Daugherty classified MSX1 as green
Congenital myaesthenic syndrome ALG14 David Beeson added ALG14 to panel
Congenital myaesthenic syndrome ALG14 David Beeson reviewed ALG14
Congenital myaesthenic syndrome ALG2 David Beeson reviewed ALG2
Congenital myaesthenic syndrome MUSK Rebecca Foulger marked MUSK as ready
Congenital myaesthenic syndrome MUSK Rebecca Foulger commented on MUSK
Congenital myaesthenic syndrome MUSK Rebecca Foulger edited their review of MUSK
Congenital myaesthenic syndrome MUSK Rebecca Foulger commented on MUSK
Congenital myaesthenic syndrome GFPT1 Rebecca Foulger marked GFPT1 as ready
Congenital myaesthenic syndrome GFPT1 Rebecca Foulger commented on GFPT1
Familial non syndromic congenital heart disease Alice Gardham promoted panel to version 1
Congenital muscular dystrophy TCAP Arianna Tucci reviewed TCAP
Congenital myaesthenic syndrome DOK7 Rebecca Foulger marked DOK7 as ready
Congenital muscular dystrophy SYNE1 Arianna Tucci reviewed SYNE1
Congenital myaesthenic syndrome DOK7 Rebecca Foulger commented on DOK7
Clefting MSX1 Louise Daugherty commented on MSX1
Congenital myaesthenic syndrome CHRNE Rebecca Foulger marked CHRNE as ready
Familial prostate cancer RNASEL Ellen McDonagh added RNASEL to panel
Familial prostate cancer RNASEL Ellen McDonagh reviewed RNASEL
Familial prostate cancer ELAC2 Ellen McDonagh added ELAC2 to panel
Familial prostate cancer ELAC2 Ellen McDonagh reviewed ELAC2
Familial prostate cancer CHEK2 Ellen McDonagh edited their review of CHEK2
Familial prostate cancer CHEK2 Ellen McDonagh edited their review of CHEK2
Congenital muscular dystrophy ITGA7 Arianna Tucci commented on ITGA7
Congenital muscular dystrophy ITGA7 Arianna Tucci reviewed ITGA7
Congenital myaesthenic syndrome CHRNE Rebecca Foulger commented on CHRNE
Familial prostate cancer MSR1 Ellen McDonagh added MSR1 to panel
Familial prostate cancer MSR1 Ellen McDonagh reviewed MSR1
Congenital myaesthenic syndrome CHRND Rebecca Foulger marked CHRND as ready
Congenital muscular dystrophy EMD Arianna Tucci reviewed EMD
Familial prostate cancer PTEN Ellen McDonagh added PTEN to panel
Familial prostate cancer PTEN Ellen McDonagh reviewed PTEN
Familial prostate cancer SPOP Ellen McDonagh added SPOP to panel
Familial prostate cancer SPOP Ellen McDonagh reviewed SPOP
Familial prostate cancer MSH6 Ellen McDonagh added MSH6 to panel
Familial prostate cancer MSH6 Ellen McDonagh reviewed MSH6
Clefting KDM1A Louise Daugherty classified KDM1A as amber
Clefting KDM1A Louise Daugherty commented on KDM1A
Congenital myaesthenic syndrome CHRND Rebecca Foulger commented on CHRND
Familial prostate cancer BRCA1 Ellen McDonagh edited their review of BRCA1
Familial prostate cancer BRCA2 Ellen McDonagh edited their review of BRCA2
Congenital muscular dystrophy DYSF Arianna Tucci reviewed DYSF
Familial prostate cancer BRIP1 Ellen McDonagh added BRIP1 to panel
Familial prostate cancer BRIP1 Ellen McDonagh reviewed BRIP1
Familial prostate cancer PALB2 Ellen McDonagh added PALB2 to panel
Familial prostate cancer PALB2 Ellen McDonagh reviewed PALB2
Familial prostate cancer CHEK2 Ellen McDonagh added CHEK2 to panel
Familial prostate cancer CHEK2 Ellen McDonagh reviewed CHEK2
Gastrointestinal epithelial barrier disorders IKBKG Sarah Leigh added IKBKG to panel
Gastrointestinal epithelial barrier disorders IKBKG Sarah Leigh reviewed IKBKG
Familial prostate cancer BRCA1 Ellen McDonagh classified BRCA1 as amber
Familial prostate cancer BRCA1 Ellen McDonagh commented on BRCA1
Congenital myaesthenic syndrome CHRNB1 Rebecca Foulger edited their review of CHRNB1
Familial prostate cancer BRCA1 Ellen McDonagh classified BRCA1 as amber
Congenital myaesthenic syndrome CHRNB1 Rebecca Foulger marked CHRNB1 as ready
Familial prostate cancer HOXB13 Ellen McDonagh added HOXB13 to panel
Familial prostate cancer HOXB13 Ellen McDonagh reviewed HOXB13
Gastrointestinal epithelial barrier disorders ADAM17 Sarah Leigh added ADAM17 to panel
Gastrointestinal epithelial barrier disorders ADAM17 Sarah Leigh reviewed ADAM17
Gastrointestinal epithelial barrier disorders MYO5B Sarah Leigh added MYO5B to panel
Gastrointestinal epithelial barrier disorders MYO5B Sarah Leigh reviewed MYO5B
Congenital muscular dystrophy DPM3 Arianna Tucci reviewed DPM3
Gastrointestinal epithelial barrier disorders EPCAM Sarah Leigh added EPCAM to panel
Gastrointestinal epithelial barrier disorders EPCAM Sarah Leigh reviewed EPCAM
Familial prostate cancer BRCA2 Ellen McDonagh classified BRCA2 as green
Familial prostate cancer BRCA2 Ellen McDonagh commented on BRCA2
Congenital myaesthenic syndrome CHRNB1 Rebecca Foulger commented on CHRNB1
Congenital myopathy PNPLA2 Helen Brittain reviewed PNPLA2
Familial prostate cancer MSH5 Ellen McDonagh added MSH5 to panel
Familial prostate cancer MSH5 Ellen McDonagh reviewed MSH5
Congenital muscular dystrophy DPM1 Arianna Tucci reviewed DPM1
Congenital myopathy MYOT Helen Brittain reviewed MYOT
Clefting HOXA2 Louise Daugherty classified HOXA2 as amber
Congenital myopathy MYF6 Helen Brittain reviewed MYF6
Pneumothorax - familial SMAD3 Olivia Niblock classified SMAD3 as amber
Pneumothorax - familial SMAD3 Olivia Niblock commented on SMAD3
Congenital myaesthenic syndrome CHRNA1 Rebecca Foulger marked CHRNA1 as ready
Pneumothorax - familial SERPINA1 Olivia Niblock marked SERPINA1 as ready
Congenital myopathy MEGF10 Helen Brittain reviewed MEGF10
Pneumothorax - familial TSC1 Olivia Niblock marked TSC1 as ready
Pneumothorax - familial TSC2 Olivia Niblock marked TSC2 as ready
Pneumothorax - familial TSC2 Olivia Niblock classified TSC2 as green
Pneumothorax - familial TSC2 Olivia Niblock commented on TSC2
Congenital myaesthenic syndrome CHRNA1 Rebecca Foulger commented on CHRNA1
Congenital myopathy MATR3 Helen Brittain reviewed MATR3
Congenital myopathy LDB3 Helen Brittain reviewed LDB3
Congenital myopathy GNE Helen Brittain reviewed GNE
Paediatric motor neuronopathies SLC5A7 Alice Gardham marked SLC5A7 as ready
Paediatric motor neuronopathies SLC5A7 Alice Gardham added SLC5A7 to panel
Paediatric motor neuronopathies SLC5A7 Alice Gardham reviewed SLC5A7
Pneumothorax - familial TSC1 Olivia Niblock classified TSC1 as green
Pneumothorax - familial TSC1 Olivia Niblock commented on TSC1
Paediatric motor neuronopathies REEP1 Alice Gardham marked REEP1 as ready
Paediatric motor neuronopathies REEP1 Alice Gardham added REEP1 to panel
Paediatric motor neuronopathies REEP1 Alice Gardham reviewed REEP1
Congenital myaesthenic syndrome CHAT Rebecca Foulger marked CHAT as ready
Congenital myopathy CRYAB Helen Brittain reviewed CRYAB
Paediatric motor neuronopathies FBXO38 Alice Gardham marked FBXO38 as ready
Clefting HOXA2 Louise Daugherty commented on HOXA2
Paediatric motor neuronopathies FBXO38 Alice Gardham added FBXO38 to panel
Paediatric motor neuronopathies FBXO38 Alice Gardham reviewed FBXO38
Paediatric motor neuronopathies EXOSC8 Alice Gardham classified EXOSC8 as amber
Paediatric motor neuronopathies EXOSC8 Alice Gardham added EXOSC8 to panel
Paediatric motor neuronopathies EXOSC8 Alice Gardham reviewed EXOSC8
Paediatric motor neuronopathies EXOSC3 Alice Gardham marked EXOSC3 as ready
Paediatric motor neuronopathies EXOSC3 Alice Gardham added EXOSC3 to panel
Paediatric motor neuronopathies EXOSC3 Alice Gardham reviewed EXOSC3
Paediatric motor neuronopathies VRK1 Alice Gardham marked VRK1 as ready
Paediatric motor neuronopathies VRK1 Alice Gardham added VRK1 to panel
Paediatric motor neuronopathies VRK1 Alice Gardham reviewed VRK1
Congenital myopathy BAG3 Helen Brittain reviewed BAG3
Congenital myaesthenic syndrome CHAT Rebecca Foulger commented on CHAT
Clefting GYPE Louise Daugherty commented on GYPE
Congenital myopathy TTN Helen Brittain reviewed TTN
Clefting FSHMD1A Louise Daugherty commented on FSHMD1A
Non-syndromic hypotrichosis DSC3 Rebecca Foulger marked DSC3 as ready
Non-syndromic hypotrichosis RPL21 Rebecca Foulger marked RPL21 as ready
Congenital myopathy TPM3 Helen Brittain reviewed TPM3
Congenital myopathy TPM2 Helen Brittain reviewed TPM2
Clefting FLNB Louise Daugherty classified FLNB as amber
Clefting FLNB Louise Daugherty commented on FLNB
Congenital myaesthenic syndrome COL13A1 David Beeson added COL13A1 to panel
Congenital myaesthenic syndrome COL13A1 David Beeson reviewed COL13A1
Paediatric motor neuronopathies TRIP4 Alice Gardham marked TRIP4 as ready
Paediatric motor neuronopathies TRIP4 Alice Gardham classified TRIP4 as green
Paediatric motor neuronopathies TRIP4 Alice Gardham added TRIP4 to panel
Paediatric motor neuronopathies TRIP4 Alice Gardham reviewed TRIP4
Congenital myaesthenic syndrome AGRN David Beeson reviewed AGRN
Paediatric motor neuronopathies SLC52A1 Alice Gardham marked SLC52A1 as ready
Paediatric motor neuronopathies UBA1 Alice Gardham marked UBA1 as ready
Paediatric motor neuronopathies SMN1 Alice Gardham marked SMN1 as ready
Congenital myopathy TNNT1 Helen Brittain reviewed TNNT1
Paediatric motor neuronopathies SPG11 Alice Gardham marked SPG11 as ready
Paediatric motor neuronopathies VAPB Alice Gardham classified VAPB as amber
Paediatric motor neuronopathies UBQLN1 Alice Gardham marked UBQLN1 as ready
Paediatric motor neuronopathies SPG11 Alice Gardham classified SPG11 as green
Congenital myopathy NEB Helen Brittain reviewed NEB
Paediatric motor neuronopathies HSPB1 Alice Gardham classified HSPB1 as amber
Congenital myopathy MYH7 Helen Brittain reviewed MYH7
Paediatric motor neuronopathies HSPB8 Alice Gardham classified HSPB8 as amber
Paediatric motor neuronopathies HSPB8 Alice Gardham classified HSPB8 as green
Paediatric motor neuronopathies DYNC1H1 Alice Gardham classified DYNC1H1 as green
Paediatric motor neuronopathies CHCHD10 Alice Gardham classified CHCHD10 as green
Paediatric motor neuronopathies BICD2 Alice Gardham classified BICD2 as green
Congenital myopathy MYH2 Helen Brittain reviewed MYH2
Paediatric motor neuronopathies ASAH1 Alice Gardham marked ASAH1 as ready
Paediatric motor neuronopathies ASAH1 Alice Gardham classified ASAH1 as green
Paediatric motor neuronopathies ASAH1 Alice Gardham reviewed ASAH1
Congenital myopathy MTM1 Helen Brittain reviewed MTM1
Congenital myopathy KBTBD13 Helen Brittain reviewed KBTBD13
Rare multisystem ciliopathy disorders Alice Gardham promoted panel to version 1
Congenital myopathy DNM2 Helen Brittain reviewed DNM2
Congenital myopathy DES Helen Brittain reviewed DES
Rare multisystem ciliopathy disorders PMM2 Alice Gardham marked PMM2 as ready
Rare multisystem ciliopathy disorders PMM2 Alice Gardham classified PMM2 as green
Rare multisystem ciliopathy disorders PMM2 Alice Gardham added PMM2 to panel
Rare multisystem ciliopathy disorders PMM2 Alice Gardham reviewed PMM2
Congenital myopathy COL6A2 Helen Brittain reviewed COL6A2
Congenital myopathy COL6A3 Helen Brittain reviewed COL6A3
Congenital myopathy COL6A2 Helen Brittain reviewed COL6A2
Rare multisystem ciliopathy disorders SBDS Alice Gardham classified SBDS as green
Sudden death in young people GLRA1 Sarah Leigh added GLRA1 to panel
Sudden death in young people GLRA1 Sarah Leigh reviewed GLRA1
Rare multisystem ciliopathy disorders DCDC2 Alice Gardham marked DCDC2 as ready
Rare multisystem ciliopathy disorders DCDC2 Alice Gardham classified DCDC2 as amber
Rare multisystem ciliopathy disorders IFT43 Alice Gardham marked IFT43 as ready
Rare multisystem ciliopathy disorders C2CD3 Alice Gardham marked C2CD3 as ready
Rare multisystem ciliopathy disorders C2CD3 Alice Gardham classified C2CD3 as green
Congenital myaesthenic syndrome DPAGT1 David Beeson reviewed DPAGT1
Congenital myaesthenic syndrome COLQ David Beeson reviewed COLQ
Congenital myaesthenic syndrome RAPSN David Beeson reviewed RAPSN
Congenital myaesthenic syndrome MUSK David Beeson reviewed MUSK
Rare multisystem ciliopathy disorders ZSWIM6 Alice Gardham marked ZSWIM6 as ready
Rare multisystem ciliopathy disorders ZSWIM6 Alice Gardham classified ZSWIM6 as green
Rare multisystem ciliopathy disorders ZSWIM6 Alice Gardham added ZSWIM6 to panel
Rare multisystem ciliopathy disorders ZSWIM6 Alice Gardham reviewed ZSWIM6
Rare multisystem ciliopathy disorders DCDC2 Ellen McDonagh classified DCDC2 as amber
Rare multisystem ciliopathy disorders DCDC2 Ellen McDonagh commented on DCDC2
Congenital muscular dystrophy DPM2 Arianna Tucci commented on DPM2
Congenital muscular dystrophy DPM2 Arianna Tucci reviewed DPM2
Congenital myaesthenic syndrome DOK7 David Beeson edited their review of DOK7
Congenital myaesthenic syndrome GFPT1 David Beeson reviewed GFPT1
Rare multisystem ciliopathy disorders C2CD3 Ellen McDonagh reviewed C2CD3
Congenital muscular dystrophy COL4A1 Arianna Tucci reviewed COL4A1
Congenital muscular dystrophy B4GAT1 Arianna Tucci reviewed B4GAT1
Rare multisystem ciliopathy disorders KIAA0753 Alice Gardham marked KIAA0753 as ready
Rare multisystem ciliopathy disorders KIAA0753 Alice Gardham added KIAA0753 to panel
Rare multisystem ciliopathy disorders KIAA0753 Alice Gardham reviewed KIAA0753
Congenital muscular dystrophy ACTA1 Arianna Tucci commented on ACTA1
Congenital muscular dystrophy ACTA1 Arianna Tucci reviewed ACTA1
Rare multisystem ciliopathy disorders MAPKBP1 Alice Gardham marked MAPKBP1 as ready
Rare multisystem ciliopathy disorders MAPKBP1 Alice Gardham classified MAPKBP1 as green
Rare multisystem ciliopathy disorders MAPKBP1 Alice Gardham added MAPKBP1 to panel
Rare multisystem ciliopathy disorders MAPKBP1 Alice Gardham reviewed MAPKBP1
Rare multisystem ciliopathy disorders DHCR7 Alice Gardham marked DHCR7 as ready
Rare multisystem ciliopathy disorders DHCR7 Alice Gardham classified DHCR7 as green
Rare multisystem ciliopathy disorders DHCR7 Alice Gardham added DHCR7 to panel
Rare multisystem ciliopathy disorders DHCR7 Alice Gardham reviewed DHCR7
Rare multisystem ciliopathy disorders TSC2 Alice Gardham marked TSC2 as ready
Rare multisystem ciliopathy disorders TSC2 Alice Gardham commented on TSC2
Rare multisystem ciliopathy disorders TSC1 Alice Gardham marked TSC1 as ready
Rare multisystem ciliopathy disorders TSC1 Alice Gardham commented on TSC1
Rare multisystem ciliopathy disorders PRKCSH Alice Gardham marked PRKCSH as ready
Rare multisystem ciliopathy disorders PRKCSH Alice Gardham commented on PRKCSH
Rare multisystem ciliopathy disorders POC1B Alice Gardham marked POC1B as ready
Rare multisystem ciliopathy disorders POC1B Alice Gardham commented on POC1B
Rare multisystem ciliopathy disorders POC1A Alice Gardham marked POC1A as ready
Rare multisystem ciliopathy disorders POC1A Alice Gardham commented on POC1A
Rare multisystem ciliopathy disorders PIBF1 Alice Gardham marked PIBF1 as ready
Rare multisystem ciliopathy disorders PIBF1 Alice Gardham commented on PIBF1
Rare multisystem ciliopathy disorders OCRL Alice Gardham marked OCRL as ready
Rare multisystem ciliopathy disorders OCRL Alice Gardham commented on OCRL
Rare multisystem ciliopathy disorders MUC1 Alice Gardham commented on MUC1
Rare multisystem ciliopathy disorders MUC1 Alice Gardham marked MUC1 as ready
Pneumothorax - familial FBN1 Olivia Niblock marked FBN1 as ready
Rare multisystem ciliopathy disorders LBR Alice Gardham marked LBR as ready
Rare multisystem ciliopathy disorders LBR Alice Gardham commented on LBR
Rare multisystem ciliopathy disorders KIF14 Alice Gardham marked KIF14 as ready
Rare multisystem ciliopathy disorders KIF14 Alice Gardham commented on KIF14
Rare multisystem ciliopathy disorders KIAA0556 Alice Gardham marked KIAA0556 as ready
Rare multisystem ciliopathy disorders KIAA0556 Alice Gardham commented on KIAA0556
Rare multisystem ciliopathy disorders IFT81 Alice Gardham marked IFT81 as ready
Rare multisystem ciliopathy disorders IFT81 Alice Gardham commented on IFT81
Rare multisystem ciliopathy disorders IFT74 Alice Gardham marked IFT74 as ready
Rare multisystem ciliopathy disorders IFT74 Alice Gardham reviewed IFT74
Rare multisystem ciliopathy disorders IFT52 Alice Gardham marked IFT52 as ready
Rare multisystem ciliopathy disorders IFT52 Alice Gardham reviewed IFT52
Rare multisystem ciliopathy disorders HNF1B Alice Gardham marked HNF1B as ready
Rare multisystem ciliopathy disorders HNF1B Alice Gardham classified HNF1B as green
Rare multisystem ciliopathy disorders HNF1B Alice Gardham classified HNF1B as red
Rare multisystem ciliopathy disorders HNF1B Alice Gardham commented on HNF1B
Rare multisystem ciliopathy disorders GLI3 Alice Gardham marked GLI3 as ready
Rare multisystem ciliopathy disorders GLI3 Alice Gardham classified GLI3 as green
Rare multisystem ciliopathy disorders GLI3 Alice Gardham commented on GLI3
Rare multisystem ciliopathy disorders FOXH1 Alice Gardham marked FOXH1 as ready
Rare multisystem ciliopathy disorders FOXH1 Alice Gardham commented on FOXH1
Rare multisystem ciliopathy disorders EXOC8 Alice Gardham marked EXOC8 as ready
Rare multisystem ciliopathy disorders EXOC8 Alice Gardham reviewed EXOC8
Congenital muscular dystrophy SYNE1 Ellen McDonagh commented on SYNE1
Congenital muscular dystrophy SYNE1 Ellen McDonagh classified SYNE1 as amber
Congenital muscular dystrophy DYSF Ellen McDonagh classified DYSF as amber
Congenital muscular dystrophy DYSF Ellen McDonagh commented on DYSF
Congenital muscular dystrophy TMEM43 Ellen McDonagh marked TMEM43 as ready
Congenital muscular dystrophy TMEM43 Ellen McDonagh classified TMEM43 as red
Congenital muscular dystrophy TMEM43 Ellen McDonagh commented on TMEM43
Clefting FLNA Louise Daugherty commented on FLNA
Rare multisystem ciliopathy disorders DYNC2LI1 Alice Gardham marked DYNC2LI1 as ready
Congenital muscular dystrophy TCAP Ellen McDonagh classified TCAP as amber
Congenital muscular dystrophy TCAP Ellen McDonagh commented on TCAP
Rare multisystem ciliopathy disorders DYNC2LI1 Alice Gardham classified DYNC2LI1 as green
Rare multisystem ciliopathy disorders DYNC2LI1 Alice Gardham reviewed DYNC2LI1
Rare multisystem ciliopathy disorders DNHD1 Alice Gardham marked DNHD1 as ready
Rare multisystem ciliopathy disorders DNHD1 Alice Gardham commented on DNHD1
Rare multisystem ciliopathy disorders DCDC2 Alice Gardham reviewed DCDC2
Congenital muscular dystrophy PLEC Ellen McDonagh classified PLEC as red
Congenital muscular dystrophy PLEC Ellen McDonagh commented on PLEC
Rare multisystem ciliopathy disorders CRB2 Alice Gardham marked CRB2 as ready
Rare multisystem ciliopathy disorders CRB2 Alice Gardham classified CRB2 as green
Rare multisystem ciliopathy disorders CRB2 Alice Gardham reviewed CRB2
Rare multisystem ciliopathy disorders CFC1 Alice Gardham marked CFC1 as ready
Rare multisystem ciliopathy disorders CFC1 Alice Gardham commented on CFC1
Congenital muscular dystrophy DUX4 Ellen McDonagh commented on DUX4
Rare multisystem ciliopathy disorders CEP104 Alice Gardham marked CEP104 as ready
Rare multisystem ciliopathy disorders CEP104 Alice Gardham classified CEP104 as green
Rare multisystem ciliopathy disorders CEP104 Alice Gardham reviewed CEP104
Rare multisystem ciliopathy disorders CENPF Alice Gardham marked CENPF as ready
Rare multisystem ciliopathy disorders CENPF Alice Gardham classified CENPF as green
Rare multisystem ciliopathy disorders CENPF Alice Gardham reviewed CENPF
Congenital muscular dystrophy DUX4 Ellen McDonagh commented on DUX4
Rare multisystem ciliopathy disorders ATD Alice Gardham marked ATD as ready
Congenital muscular dystrophy DPM3 Ellen McDonagh classified DPM3 as amber
Congenital muscular dystrophy DPM3 Ellen McDonagh commented on DPM3
Congenital muscular dystrophy DPM2 Ellen McDonagh classified DPM2 as amber
Rare multisystem ciliopathy disorders UMOD Alice Gardham marked UMOD as ready
Rare multisystem ciliopathy disorders UMOD Alice Gardham classified UMOD as red
Rare multisystem ciliopathy disorders UMOD Alice Gardham commented on UMOD
Congenital muscular dystrophy DPM2 Ellen McDonagh commented on DPM2
Congenital muscular dystrophy DPM2 Ellen McDonagh classified DPM2 as amber
Rare multisystem ciliopathy disorders NEK8 Alice Gardham marked NEK8 as ready
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy DPM1 Ellen McDonagh commented on DPM1
Congenital muscular dystrophy DPM1 Ellen McDonagh classified DPM1 as amber
Congenital muscular dystrophy COL4A2 Ellen McDonagh marked COL4A2 as ready
Congenital muscular dystrophy COL4A2 Ellen McDonagh classified COL4A2 as red
Congenital muscular dystrophy COL4A2 Ellen McDonagh commented on COL4A2
Congenital muscular dystrophy COL4A1 Ellen McDonagh classified COL4A1 as amber
Congenital muscular dystrophy COL4A1 Ellen McDonagh commented on COL4A1
Rare multisystem ciliopathy disorders WDPCP Alice Gardham marked WDPCP as ready
Rare multisystem ciliopathy disorders TRIM32 Alice Gardham marked TRIM32 as ready
Rare multisystem ciliopathy disorders TRIM32 Alice Gardham classified TRIM32 as red
Rare multisystem ciliopathy disorders TRIM32 Alice Gardham commented on TRIM32
Rare multisystem ciliopathy disorders LZTFL1 Alice Gardham marked LZTFL1 as ready
Rare multisystem ciliopathy disorders LZTFL1 Alice Gardham classified LZTFL1 as red
Rare multisystem ciliopathy disorders LZTFL1 Alice Gardham commented on LZTFL1
Rare multisystem ciliopathy disorders NEK8 Alice Gardham classified NEK8 as amber
Rare multisystem ciliopathy disorders IFT43 Alice Gardham classified IFT43 as amber
Rare multisystem ciliopathy disorders CEP83 Alice Gardham marked CEP83 as ready
Rare multisystem ciliopathy disorders ZIC3 Alice Gardham marked ZIC3 as ready
Rare multisystem ciliopathy disorders ZIC3 Alice Gardham commented on ZIC3
Rare multisystem ciliopathy disorders TTBK2 Alice Gardham marked TTBK2 as ready
Rare multisystem ciliopathy disorders TTBK2 Alice Gardham commented on TTBK2
Rare multisystem ciliopathy disorders TRAF3IP1 Alice Gardham marked TRAF3IP1 as ready
Rare multisystem ciliopathy disorders TRAF3IP1 Alice Gardham classified TRAF3IP1 as green
Rare multisystem ciliopathy disorders TRAF3IP1 Alice Gardham reviewed TRAF3IP1
Rare multisystem ciliopathy disorders TOPORS Alice Gardham marked TOPORS as ready
Rare multisystem ciliopathy disorders TOPORS Alice Gardham commented on TOPORS
Rare multisystem ciliopathy disorders TMEM107 Alice Gardham classified TMEM107 as red
Rare multisystem ciliopathy disorders TMEM107 Alice Gardham commented on TMEM107
Rare multisystem ciliopathy disorders TMEM107 Alice Gardham marked TMEM107 as ready
Rare multisystem ciliopathy disorders TBC1D32 Alice Gardham marked TBC1D32 as ready
Rare multisystem ciliopathy disorders TBC1D32 Alice Gardham commented on TBC1D32
Rare multisystem ciliopathy disorders TAPT1 Alice Gardham marked TAPT1 as ready
Rare multisystem ciliopathy disorders TAPT1 Alice Gardham reviewed TAPT1
Rare multisystem ciliopathy disorders SEC63 Alice Gardham marked SEC63 as ready
Rare multisystem ciliopathy disorders SEC63 Alice Gardham commented on SEC63
Rare multisystem ciliopathy disorders SCLT1 Alice Gardham marked SCLT1 as ready
Rare multisystem ciliopathy disorders SCLT1 Alice Gardham reviewed SCLT1
Rare multisystem ciliopathy disorders SBDS Alice Gardham marked SBDS as ready
Rare multisystem ciliopathy disorders SBDS Alice Gardham commented on SBDS
Congenital myaesthenic syndrome DOK7 David Beeson reviewed DOK7
Congenital myaesthenic syndrome CHRNE David Beeson reviewed CHRNE
Congenital myaesthenic syndrome CHRND David Beeson reviewed CHRND
Congenital muscular dystrophy SEPN1 Ellen McDonagh marked SEPN1 as ready
Congenital muscular dystrophy SEPN1 Ellen McDonagh commented on SEPN1
Congenital muscular dystrophy POMT2 Ellen McDonagh marked POMT2 as ready
Congenital muscular dystrophy POMT2 Ellen McDonagh commented on POMT2
Congenital myaesthenic syndrome CHRNB1 David Beeson reviewed CHRNB1
Congenital muscular dystrophy POMT1 Ellen McDonagh marked POMT1 as ready
Congenital muscular dystrophy POMT1 Ellen McDonagh commented on POMT1
Non-syndromic hypotrichosis RPL21 Rebecca Foulger classified RPL21 as red
Non-syndromic hypotrichosis RPL21 Rebecca Foulger commented on RPL21
Congenital muscular dystrophy POMGNT1 Ellen McDonagh marked POMGNT1 as ready
Congenital muscular dystrophy POMGNT1 Ellen McDonagh commented on POMGNT1
Congenital myaesthenic syndrome CHRNA1 David Beeson commented on CHRNA1
Congenital muscular dystrophy LARGE Ellen McDonagh marked LARGE as ready
Congenital muscular dystrophy LARGE Ellen McDonagh commented on LARGE
Congenital muscular dystrophy LAMA2 Ellen McDonagh marked LAMA2 as ready
Congenital muscular dystrophy LAMA2 Ellen McDonagh commented on LAMA2
Congenital myaesthenic syndrome CHRNA1 David Beeson reviewed CHRNA1
Non-syndromic hypotrichosis DSG4 Rebecca Foulger edited their review of DSG4
Congenital myaesthenic syndrome CHAT David Beeson reviewed CHAT
Non-syndromic hypotrichosis LIPH Rebecca Foulger edited their review of LIPH
Non-syndromic hypotrichosis LIPH Rebecca Foulger classified LIPH as green
Non-syndromic hypotrichosis LIPH Rebecca Foulger commented on LIPH
Hyperammonaemia ACADL Sarah Leigh edited their review of ACADL
Clefting DLX4 Louise Daugherty commented on DLX4
Non-syndromic hypotrichosis KRT74 Rebecca Foulger commented on KRT74
Clefting COL9A2 Louise Daugherty commented on COL9A2
Non-syndromic hypotrichosis DSC3 Rebecca Foulger classified DSC3 as red
Non-syndromic hypotrichosis DSC3 Rebecca Foulger commented on DSC3
Non-syndromic hypotrichosis APCDD1 Rebecca Foulger classified APCDD1 as green
Kleine-Levin syndrome TRPV4 Sarah Leigh marked TRPV4 as ready
Kleine-Levin syndrome TRPV4 Sarah Leigh commented on TRPV4
Clefting ANKRD11 Louise Daugherty classified ANKRD11 as amber
Clefting ANKRD11 Louise Daugherty commented on ANKRD11
Congenital myopathy COL6A1 Helen Brittain reviewed COL6A1
Congenital myopathy CFL2 Helen Brittain reviewed CFL2
Intellectual disability SUOX Sarah Leigh marked SUOX as ready
Intellectual disability SUOX Sarah Leigh classified SUOX as green
Intellectual disability SUOX Sarah Leigh classified SUOX as green
Intellectual disability SUOX Sarah Leigh classified SUOX as green
Intellectual disability SUOX Sarah Leigh commented on SUOX
Non-syndromic hypotrichosis HR Rebecca Foulger edited their review of HR
Congenital myopathy BIN1 Helen Brittain reviewed BIN1
Rare multisystem ciliopathy disorders RPGRIP1 Alice Gardham marked RPGRIP1 as ready
Rare multisystem ciliopathy disorders RPGRIP1 Alice Gardham commented on RPGRIP1
Rare multisystem ciliopathy disorders RPE65 Alice Gardham marked RPE65 as ready
Rare multisystem ciliopathy disorders RPE65 Alice Gardham commented on RPE65
Rare multisystem ciliopathy disorders RDH12 Alice Gardham marked RDH12 as ready
Rare multisystem ciliopathy disorders RDH12 Alice Gardham commented on RDH12
Rare multisystem ciliopathy disorders RD3 Alice Gardham commented on RD3
Rare multisystem ciliopathy disorders RD3 Alice Gardham marked RD3 as ready
Rare multisystem ciliopathy disorders NODAL Alice Gardham marked NODAL as ready
Rare multisystem ciliopathy disorders NODAL Alice Gardham commented on NODAL
Rare multisystem ciliopathy disorders NKX2-5 Alice Gardham marked NKX2-5 as ready
Rare multisystem ciliopathy disorders NKX2-5 Alice Gardham commented on NKX2-5
Clefting COL9A1 Louise Daugherty classified COL9A1 as green
Rare multisystem ciliopathy disorders LRAT Alice Gardham marked LRAT as ready
Rare multisystem ciliopathy disorders LRAT Alice Gardham commented on LRAT
Rare multisystem ciliopathy disorders LEFTY2 Alice Gardham marked LEFTY2 as ready
Rare multisystem ciliopathy disorders LEFTY2 Alice Gardham commented on LEFTY2
Rare multisystem ciliopathy disorders KCNJ13 Alice Gardham marked KCNJ13 as ready
Rare multisystem ciliopathy disorders KCNJ13 Alice Gardham commented on KCNJ13
Rare multisystem ciliopathy disorders IMPDH1 Alice Gardham marked IMPDH1 as ready
Rare multisystem ciliopathy disorders IMPDH1 Alice Gardham commented on IMPDH1
Non-syndromic hypotrichosis HR Rebecca Foulger commented on HR
Rare multisystem ciliopathy disorders GUCY2D Alice Gardham marked GUCY2D as ready
Rare multisystem ciliopathy disorders GUCY2D Alice Gardham commented on GUCY2D
Non-syndromic hypotrichosis CDSN Rebecca Foulger classified CDSN as green
Non-syndromic hypotrichosis CDSN Rebecca Foulger commented on CDSN
Non-syndromic hypotrichosis CDSN Rebecca Foulger commented on CDSN
Congenital myopathy ATP2A1 Helen Brittain reviewed ATP2A1
Rare multisystem ciliopathy disorders GDF1 Alice Gardham marked GDF1 as ready
Rare multisystem ciliopathy disorders GDF1 Alice Gardham commented on GDF1
Rare multisystem ciliopathy disorders DNAJB13 Alice Gardham marked DNAJB13 as ready
Rare multisystem ciliopathy disorders DNAJB13 Alice Gardham commented on DNAJB13
Rare multisystem ciliopathy disorders DFNB31 Alice Gardham commented on DFNB31
Rare multisystem ciliopathy disorders DFNB31 Alice Gardham marked DFNB31 as ready
Rare multisystem ciliopathy disorders CRX Alice Gardham marked CRX as ready
Rare multisystem ciliopathy disorders CRX Alice Gardham commented on CRX
Non-syndromic hypotrichosis CDSN Rebecca Foulger commented on CDSN
Non-syndromic hypotrichosis CDSN Rebecca Foulger edited their review of CDSN
Rare multisystem ciliopathy disorders CRELD1 Alice Gardham marked CRELD1 as ready
Rare multisystem ciliopathy disorders CRELD1 Alice Gardham commented on CRELD1
Rare multisystem ciliopathy disorders CRB1 Alice Gardham marked CRB1 as ready
Rare multisystem ciliopathy disorders CRB1 Alice Gardham commented on CRB1
Non-syndromic hypotrichosis CDSN Rebecca Foulger commented on CDSN
Rare multisystem ciliopathy disorders CFAP53 Alice Gardham marked CFAP53 as ready
Rare multisystem ciliopathy disorders CFAP53 Alice Gardham commented on CFAP53
Rare multisystem ciliopathy disorders MYO7A Alice Gardham marked MYO7A as ready
Rare multisystem ciliopathy disorders MYO7A Alice Gardham commented on MYO7A
Rare multisystem ciliopathy disorders PCDH15 Alice Gardham marked PCDH15 as ready
Rare multisystem ciliopathy disorders PCDH15 Alice Gardham commented on PCDH15
Rare multisystem ciliopathy disorders USH2A Alice Gardham commented on USH2A
Rare multisystem ciliopathy disorders USH2A Alice Gardham marked USH2A as ready
Rare multisystem ciliopathy disorders CLRN1 Alice Gardham marked CLRN1 as ready
Rare multisystem ciliopathy disorders CLRN1 Alice Gardham commented on CLRN1
Rare multisystem ciliopathy disorders USH1G Alice Gardham marked USH1G as ready
Rare multisystem ciliopathy disorders USH1G Alice Gardham commented on USH1G
Non-syndromic hypotrichosis APCDD1 Rebecca Foulger commented on APCDD1
Rare multisystem ciliopathy disorders USH1C Alice Gardham marked USH1C as ready
Rare multisystem ciliopathy disorders USH1C Alice Gardham commented on USH1C
Non-syndromic hypotrichosis APCDD1 Rebecca Foulger commented on APCDD1
Rare multisystem ciliopathy disorders CDH23 Alice Gardham marked CDH23 as ready
Rare multisystem ciliopathy disorders CDH23 Alice Gardham commented on CDH23
Rare multisystem ciliopathy disorders C2orf71 Alice Gardham marked C2orf71 as ready
Rare multisystem ciliopathy disorders C2orf71 Alice Gardham commented on C2orf71
Rare multisystem ciliopathy disorders C2CD3 Alice Gardham classified C2CD3 as amber
Rare multisystem ciliopathy disorders C2CD3 Alice Gardham commented on C2CD3
Rare multisystem ciliopathy disorders ACVR2B Alice Gardham marked ACVR2B as ready
Rare multisystem ciliopathy disorders ACVR2B Alice Gardham commented on ACVR2B
Rare multisystem ciliopathy disorders NME8 Alice Gardham marked NME8 as ready
Rare multisystem ciliopathy disorders NME8 Alice Gardham commented on NME8
Rare multisystem ciliopathy disorders CFTR Alice Gardham marked CFTR as ready
Rare multisystem ciliopathy disorders CFTR Alice Gardham commented on CFTR
Rare multisystem ciliopathy disorders SCNN1G Alice Gardham marked SCNN1G as ready
Rare multisystem ciliopathy disorders SCNN1G Alice Gardham commented on SCNN1G
Rare multisystem ciliopathy disorders SCNN1B Alice Gardham marked SCNN1B as ready
Rare multisystem ciliopathy disorders SCNN1B Alice Gardham commented on SCNN1B
Rare multisystem ciliopathy disorders SCNN1A Alice Gardham marked SCNN1A as ready
Rare multisystem ciliopathy disorders SCNN1A Alice Gardham commented on SCNN1A
Rare multisystem ciliopathy disorders ZMYND10 Alice Gardham marked ZMYND10 as ready
Rare multisystem ciliopathy disorders ZMYND10 Alice Gardham commented on ZMYND10
Rare multisystem ciliopathy disorders SPAG1 Alice Gardham marked SPAG1 as ready
Rare multisystem ciliopathy disorders SPAG1 Alice Gardham commented on SPAG1
Rare multisystem ciliopathy disorders RSPH9 Alice Gardham marked RSPH9 as ready
Rare multisystem ciliopathy disorders RSPH9 Alice Gardham commented on RSPH9
Rare multisystem ciliopathy disorders RSPH4A Alice Gardham marked RSPH4A as ready
Rare multisystem ciliopathy disorders RSPH4A Alice Gardham commented on RSPH4A
Rare multisystem ciliopathy disorders RSPH1 Alice Gardham marked RSPH1 as ready
Rare multisystem ciliopathy disorders RSPH1 Alice Gardham commented on RSPH1
Rare multisystem ciliopathy disorders RPGR Alice Gardham marked RPGR as ready
Rare multisystem ciliopathy disorders RPGR Alice Gardham commented on RPGR
Rare multisystem ciliopathy disorders MCIDAS Alice Gardham classified MCIDAS as red
Brain channelopathy Arianna Tucci promoted panel to version 1
Non-syndromic hypotrichosis LPAR6 Rebecca Foulger commented on LPAR6
Non-syndromic hypotrichosis LPAR6 Rebecca Foulger classified LPAR6 as green
Rare multisystem ciliopathy disorders MCIDAS Alice Gardham marked MCIDAS as ready
Rare multisystem ciliopathy disorders MCIDAS Alice Gardham commented on MCIDAS
Rare multisystem ciliopathy disorders LRRC6 Alice Gardham marked LRRC6 as ready
Rare multisystem ciliopathy disorders LRRC6 Alice Gardham commented on LRRC6
Rare multisystem ciliopathy disorders HYDIN Alice Gardham marked HYDIN as ready
Rare multisystem ciliopathy disorders HYDIN Alice Gardham commented on HYDIN
Rare multisystem ciliopathy disorders GAS8 Alice Gardham marked GAS8 as ready
Rare multisystem ciliopathy disorders GAS8 Alice Gardham commented on GAS8
Rare multisystem ciliopathy disorders DYX1C1 Alice Gardham marked DYX1C1 as ready
Rare multisystem ciliopathy disorders DYX1C1 Alice Gardham commented on DYX1C1
Rare multisystem ciliopathy disorders DRC1 Alice Gardham marked DRC1 as ready
Rare multisystem ciliopathy disorders DRC1 Alice Gardham commented on DRC1
Rare multisystem ciliopathy disorders DNAL1 Alice Gardham marked DNAL1 as ready
Rare multisystem ciliopathy disorders DNAL1 Alice Gardham commented on DNAL1
Rare multisystem ciliopathy disorders DNAI2 Alice Gardham marked DNAI2 as ready
Rare multisystem ciliopathy disorders DNAI2 Alice Gardham commented on DNAI2
Congenital myopathy ACTA1 Helen Brittain commented on ACTA1
Rare multisystem ciliopathy disorders DNAI1 Alice Gardham marked DNAI1 as ready
Rare multisystem ciliopathy disorders DNAI1 Alice Gardham commented on DNAI1
Congenital myopathy ACTA1 Helen Brittain reviewed ACTA1
Rare multisystem ciliopathy disorders DNAH5 Alice Gardham marked DNAH5 as ready
Rare multisystem ciliopathy disorders DNAH5 Alice Gardham commented on DNAH5
Rare multisystem ciliopathy disorders DNAH11 Alice Gardham marked DNAH11 as ready
Rare multisystem ciliopathy disorders DNAH11 Alice Gardham commented on DNAH11
Brain channelopathy HTT Arianna Tucci marked HTT as ready
Rare multisystem ciliopathy disorders DNAAF5 Alice Gardham marked DNAAF5 as ready
Rare multisystem ciliopathy disorders DNAAF5 Alice Gardham commented on DNAAF5
Non-syndromic hypotrichosis KRT71 Rebecca Foulger marked KRT71 as ready
Rare multisystem ciliopathy disorders DNAAF3 Alice Gardham marked DNAAF3 as ready
Rare multisystem ciliopathy disorders DNAAF3 Alice Gardham commented on DNAAF3
Brain channelopathy HTT Arianna Tucci added HTT to panel
Brain channelopathy HTT Arianna Tucci reviewed HTT
Rare multisystem ciliopathy disorders DNAAF2 Alice Gardham marked DNAAF2 as ready
Rare multisystem ciliopathy disorders DNAAF2 Alice Gardham commented on DNAAF2
Rare multisystem ciliopathy disorders DNAAF1 Alice Gardham marked DNAAF1 as ready
Rare multisystem ciliopathy disorders DNAAF1 Alice Gardham commented on DNAAF1
Rare multisystem ciliopathy disorders CCNO Alice Gardham marked CCNO as ready
Rare multisystem ciliopathy disorders CCNO Alice Gardham commented on CCNO
Clefting COL9A1 Louise Daugherty commented on COL9A1
Non-syndromic hypotrichosis KRT71 Rebecca Foulger commented on KRT71
Non-syndromic hypotrichosis DSG4 Rebecca Foulger classified DSG4 as green
Non-syndromic hypotrichosis DSG4 Rebecca Foulger classified DSG4 as amber
Non-syndromic hypotrichosis DSG4 Rebecca Foulger commented on DSG4
Brain channelopathy NKX2-1 Arianna Tucci added NKX2-1 to panel
Brain channelopathy NKX2-1 Arianna Tucci reviewed NKX2-1
Brain channelopathy ATP7B Arianna Tucci marked ATP7B as ready
Brain channelopathy ATP7B Arianna Tucci added ATP7B to panel
Brain channelopathy ATP7B Arianna Tucci reviewed ATP7B
Clefting BMP4 Louise Daugherty edited their review of BMP4
Brain channelopathy KCNK18 Arianna Tucci marked KCNK18 as ready
Brain channelopathy KCNK18 Arianna Tucci classified KCNK18 as amber
Brain channelopathy KCNK18 Arianna Tucci commented on KCNK18
Intellectual disability GNB1 Ellen McDonagh marked GNB1 as ready
Undiagnosed metabolic disorders SLC52A3 Sarah Leigh marked SLC52A3 as ready
Undiagnosed metabolic disorders SLC52A3 Sarah Leigh classified SLC52A3 as green
Intellectual disability GNB1 Ellen McDonagh classified GNB1 as green
Intellectual disability GNB1 Ellen McDonagh classified GNB1 as green
Undiagnosed metabolic disorders SLC52A2 Sarah Leigh marked SLC52A2 as ready
Undiagnosed metabolic disorders SLC52A2 Sarah Leigh classified SLC52A2 as green
Rare multisystem ciliopathy disorders CCDC65 Alice Gardham marked CCDC65 as ready
Rare multisystem ciliopathy disorders CCDC65 Alice Gardham commented on CCDC65
Rare multisystem ciliopathy disorders CCDC40 Alice Gardham marked CCDC40 as ready
Rare multisystem ciliopathy disorders CCDC40 Alice Gardham commented on CCDC40
Rare multisystem ciliopathy disorders CCDC39 Alice Gardham marked CCDC39 as ready
Rare multisystem ciliopathy disorders CCDC39 Alice Gardham commented on CCDC39
Intellectual disability GNB1 Ellen McDonagh edited their review of GNB1
Undiagnosed metabolic disorders HCFC1 Sarah Leigh marked HCFC1 as ready
Rare multisystem ciliopathy disorders CCDC151 Alice Gardham classified CCDC151 as red
Intellectual disability GNB1 Ellen McDonagh commented on GNB1
Rare multisystem ciliopathy disorders CCDC151 Alice Gardham marked CCDC151 as ready
Rare multisystem ciliopathy disorders CCDC151 Alice Gardham commented on CCDC151
Rare multisystem ciliopathy disorders CCDC114 Alice Gardham marked CCDC114 as ready
Rare multisystem ciliopathy disorders CCDC114 Alice Gardham commented on CCDC114
Rare multisystem ciliopathy disorders CCDC103 Alice Gardham marked CCDC103 as ready
Rare multisystem ciliopathy disorders CCDC103 Alice Gardham commented on CCDC103
Rare multisystem ciliopathy disorders C21orf59 Alice Gardham marked C21orf59 as ready
Rare multisystem ciliopathy disorders C21orf59 Alice Gardham commented on C21orf59
Rare multisystem ciliopathy disorders ARMC4 Alice Gardham marked ARMC4 as ready
Rare multisystem ciliopathy disorders ARMC4 Alice Gardham commented on ARMC4
Undiagnosed metabolic disorders HCFC1 Sarah Leigh classified HCFC1 as green
Undiagnosed metabolic disorders GLRA1 Sarah Leigh marked GLRA1 as ready
Undiagnosed metabolic disorders GLRA1 Sarah Leigh classified GLRA1 as green
Undiagnosed metabolic disorders GABRG2 Sarah Leigh marked GABRG2 as ready
Undiagnosed metabolic disorders GABRG2 Sarah Leigh classified GABRG2 as green
Rare multisystem ciliopathy disorders AIPL1 Alice Gardham marked AIPL1 as ready
Rare multisystem ciliopathy disorders AIPL1 Alice Gardham commented on AIPL1
Rare multisystem ciliopathy disorders ADGRV1 Alice Gardham marked ADGRV1 as ready
Rare multisystem ciliopathy disorders ADGRV1 Alice Gardham commented on ADGRV1
Rare multisystem ciliopathy disorders PKHD1 Alice Gardham marked PKHD1 as ready
Rare multisystem ciliopathy disorders PKD2 Alice Gardham marked PKD2 as ready
Rare multisystem ciliopathy disorders ZNF423 Alice Gardham marked ZNF423 as ready
Rare multisystem ciliopathy disorders ZNF423 Alice Gardham commented on ZNF423
Undiagnosed metabolic disorders DHFRL1 Sarah Leigh added DHFRL1 to panel
Undiagnosed metabolic disorders DHFRL1 Sarah Leigh reviewed DHFRL1
Rare multisystem ciliopathy disorders VHL Alice Gardham marked VHL as ready
Rare multisystem ciliopathy disorders VHL Alice Gardham classified VHL as red
Rare multisystem ciliopathy disorders VHL Alice Gardham commented on VHL
Rare multisystem ciliopathy disorders TULP1 Alice Gardham marked TULP1 as ready
Rare multisystem ciliopathy disorders TULP1 Alice Gardham classified TULP1 as red
Rare multisystem ciliopathy disorders TULP1 Alice Gardham commented on TULP1
Rare multisystem ciliopathy disorders SPATA7 Alice Gardham marked SPATA7 as ready
Rare multisystem ciliopathy disorders SPATA7 Alice Gardham commented on SPATA7
Rare multisystem ciliopathy disorders SPATA7 Alice Gardham classified SPATA7 as red
Rare multisystem ciliopathy disorders LCA5 Alice Gardham marked LCA5 as ready
Rare multisystem ciliopathy disorders LCA5 Alice Gardham commented on LCA5
Rare multisystem ciliopathy disorders LCA5 Alice Gardham classified LCA5 as red
Rare multisystem ciliopathy disorders KIF7 Alice Gardham marked KIF7 as ready
Rare multisystem ciliopathy disorders KIF7 Alice Gardham commented on KIF7
Rare multisystem ciliopathy disorders KIF7 Alice Gardham classified KIF7 as green
Rare multisystem ciliopathy disorders IFT27 Alice Gardham marked IFT27 as ready
Rare multisystem ciliopathy disorders IFT27 Alice Gardham commented on IFT27
Rare multisystem ciliopathy disorders IFT27 Alice Gardham classified IFT27 as red
Rare multisystem ciliopathy disorders WDR60 Alice Gardham marked WDR60 as ready
Rare multisystem ciliopathy disorders WDR60 Alice Gardham classified WDR60 as red
Rare multisystem ciliopathy disorders WDR60 Alice Gardham reviewed WDR60
Undiagnosed metabolic disorders SLC52A3 Sarah Leigh edited their review of SLC52A3
Undiagnosed metabolic disorders SLC52A3 Sarah Leigh reviewed SLC52A3
Undiagnosed metabolic disorders SLC52A2 Sarah Leigh edited their review of SLC52A2
Undiagnosed metabolic disorders SLC52A2 Sarah Leigh reviewed SLC52A2
Undiagnosed metabolic disorders SLC52A1 Sarah Leigh edited their review of SLC52A1
Undiagnosed metabolic disorders SLC52A1 Sarah Leigh reviewed SLC52A1
Undiagnosed metabolic disorders PPM1K Sarah Leigh reviewed PPM1K
Undiagnosed metabolic disorders PHKG1 Sarah Leigh reviewed PHKG1
Undiagnosed metabolic disorders NAT8L Sarah Leigh reviewed NAT8L
Undiagnosed metabolic disorders MTHFD1 Sarah Leigh reviewed MTHFD1
Undiagnosed metabolic disorders HCFC1 Sarah Leigh edited their review of HCFC1
Undiagnosed metabolic disorders HCFC1 Sarah Leigh reviewed HCFC1
Undiagnosed metabolic disorders GLRA1 Sarah Leigh edited their review of GLRA1
Undiagnosed metabolic disorders GLRA1 Sarah Leigh reviewed GLRA1
Undiagnosed metabolic disorders GABRG2 Sarah Leigh edited their review of GABRG2
Undiagnosed metabolic disorders GABRG2 Sarah Leigh reviewed GABRG2
Undiagnosed metabolic disorders FOLR2 Sarah Leigh reviewed FOLR2
Undiagnosed metabolic disorders FOLR3 Sarah Leigh reviewed FOLR3
Undiagnosed metabolic disorders DHFR2 Sarah Leigh reviewed DHFR2*
Undiagnosed metabolic disorders ARSG Sarah Leigh reviewed ARSG
Skeletal Muscle Channelopathies KCNJ2 Arianna Tucci marked KCNJ2 as ready
Skeletal Muscle Channelopathies KCNJ2 Arianna Tucci commented on KCNJ2
Skeletal Muscle Channelopathies DMPK Arianna Tucci marked DMPK as ready
Skeletal Muscle Channelopathies DMPK Arianna Tucci commented on DMPK
Skeletal Muscle Channelopathies DMPK Arianna Tucci classified DMPK as red
Skeletal Muscle Channelopathies CLCN1 Arianna Tucci marked CLCN1 as ready
Skeletal Muscle Channelopathies CLCN1 Arianna Tucci commented on CLCN1
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci marked CACNA1S as ready
Non-syndromic hypotrichosis RPL21 Celia Moss reviewed RPL21
Non-syndromic hypotrichosis KRT71 Celia Moss edited their review of KRT71
Non-syndromic hypotrichosis DSG4 Celia Moss reviewed DSG4
Non-syndromic hypotrichosis KRT71 Celia Moss edited their review of KRT71
Non-syndromic hypotrichosis KRT71 Celia Moss edited their review of KRT71
Non-syndromic hypotrichosis DSC3 Celia Moss edited their review of DSC3
Non-syndromic hypotrichosis SNRPE Celia Moss reviewed SNRPE
Non-syndromic hypotrichosis RPL21 Celia Moss reviewed RPL21
Non-syndromic hypotrichosis LPAR6 Celia Moss reviewed LPAR6
Non-syndromic hypotrichosis LIPH Celia Moss commented on LIPH
Non-syndromic hypotrichosis LIPH Celia Moss commented on LIPH
Non-syndromic hypotrichosis LIPH Celia Moss reviewed LIPH
Clefting TP63 Louise Daugherty commented on TP63
Non-syndromic hypotrichosis KRT74 Celia Moss reviewed KRT74
Non-syndromic hypotrichosis KRT71 Celia Moss reviewed KRT71
Non-syndromic hypotrichosis HR Celia Moss reviewed HR
Non-syndromic hypotrichosis DSC3 Celia Moss reviewed DSC3
Non-syndromic hypotrichosis CDSN Celia Moss reviewed CDSN
Non-syndromic hypotrichosis APCDD1 Celia Moss edited their review of APCDD1
Non-syndromic hypotrichosis APCDD1 Celia Moss reviewed APCDD1
Non-syndromic hypotrichosis DSG4 Celia Moss reviewed DSG4
Rare multisystem ciliopathy disorders WDR34 Alice Gardham marked WDR34 as ready
Rare multisystem ciliopathy disorders WDR34 Alice Gardham classified WDR34 as green
Rare multisystem ciliopathy disorders WDR34 Alice Gardham reviewed WDR34
Rare multisystem ciliopathy disorders TTC21B Alice Gardham marked TTC21B as ready
Rare multisystem ciliopathy disorders TTC21B Alice Gardham classified TTC21B as green
Rare multisystem ciliopathy disorders TTC21B Alice Gardham commented on TTC21B
Rare multisystem ciliopathy disorders TMEM231 Alice Gardham marked TMEM231 as ready
Rare multisystem ciliopathy disorders TMEM231 Alice Gardham classified TMEM231 as green
Rare multisystem ciliopathy disorders TMEM231 Alice Gardham commented on TMEM231
Rare multisystem ciliopathy disorders PDE6D Alice Gardham marked PDE6D as ready
Rare multisystem ciliopathy disorders PDE6D Alice Gardham classified PDE6D as red
Rare multisystem ciliopathy disorders PDE6D Alice Gardham commented on PDE6D
Rare multisystem ciliopathy disorders IFT172 Alice Gardham marked IFT172 as ready
Rare multisystem ciliopathy disorders IFT172 Alice Gardham classified IFT172 as green
Rare multisystem ciliopathy disorders IFT172 Alice Gardham reviewed IFT172
Rare multisystem ciliopathy disorders GLIS2 Alice Gardham marked GLIS2 as ready
Rare multisystem ciliopathy disorders DDX59 Alice Gardham marked DDX59 as ready
Rare multisystem ciliopathy disorders DDX59 Alice Gardham classified DDX59 as red
Rare multisystem ciliopathy disorders DDX59 Alice Gardham reviewed DDX59
Rare multisystem ciliopathy disorders CEP83 Alice Gardham classified CEP83 as green
Rare multisystem ciliopathy disorders CEP83 Alice Gardham commented on CEP83
Rare multisystem ciliopathy disorders CEP83 Alice Gardham reviewed CEP83
Rare multisystem ciliopathy disorders XPNPEP3 Alice Gardham marked XPNPEP3 as ready
Rare multisystem ciliopathy disorders XPNPEP3 Alice Gardham classified XPNPEP3 as red
Rare multisystem ciliopathy disorders XPNPEP3 Alice Gardham reviewed XPNPEP3
Rare multisystem ciliopathy disorders WDR35 Alice Gardham marked WDR35 as ready
Rare multisystem ciliopathy disorders WDR35 Alice Gardham commented on WDR35
Rare multisystem ciliopathy disorders WDR19 Alice Gardham marked WDR19 as ready
Rare multisystem ciliopathy disorders WDR19 Alice Gardham commented on WDR19
Undiagnosed metabolic disorders CTH Sarah Leigh marked CTH as ready
Undiagnosed metabolic disorders CTH Sarah Leigh commented on CTH
Undiagnosed metabolic disorders CTNS Sarah Leigh marked CTNS as ready
Undiagnosed metabolic disorders CTNS Sarah Leigh commented on CTNS
Rare multisystem ciliopathy disorders NPHP4 Alice Gardham marked NPHP4 as ready
Rare multisystem ciliopathy disorders NPHP4 Alice Gardham commented on NPHP4
Rare multisystem ciliopathy disorders NPHP3 Alice Gardham commented on NPHP3
Rare multisystem ciliopathy disorders NPHP3 Alice Gardham marked NPHP3 as ready
Rare multisystem ciliopathy disorders NPHP1 Alice Gardham marked NPHP1 as ready
Rare multisystem ciliopathy disorders NEK8 Alice Gardham reviewed NEK8
Rare multisystem ciliopathy disorders NEK1 Alice Gardham marked NEK1 as ready
Rare multisystem ciliopathy disorders NEK1 Alice Gardham commented on NEK1
Undiagnosed metabolic disorders DBH Sarah Leigh classified DBH as red
Rare multisystem ciliopathy disorders IQCB1 Alice Gardham marked IQCB1 as ready
Rare multisystem ciliopathy disorders IQCB1 Alice Gardham commented on IQCB1
Rare multisystem ciliopathy disorders INVS Alice Gardham marked INVS as ready
Rare multisystem ciliopathy disorders INVS Alice Gardham commented on INVS
Rare multisystem ciliopathy disorders IFT80 Alice Gardham commented on IFT80
Rare multisystem ciliopathy disorders IFT80 Alice Gardham marked IFT80 as ready
Rare multisystem ciliopathy disorders IFT43 Alice Gardham classified IFT43 as green
Undiagnosed metabolic disorders DNAJC19 Sarah Leigh marked DNAJC19 as ready
Undiagnosed metabolic disorders DNAJC19 Sarah Leigh commented on DNAJC19
Rare multisystem ciliopathy disorders IFT43 Alice Gardham reviewed IFT43
Rare multisystem ciliopathy disorders IFT140 Alice Gardham marked IFT140 as ready
Rare multisystem ciliopathy disorders IFT140 Alice Gardham reviewed IFT140
Rare multisystem ciliopathy disorders IFT122 Alice Gardham marked IFT122 as ready
Rare multisystem ciliopathy disorders HYLS1 Alice Gardham marked HYLS1 as ready
Rare multisystem ciliopathy disorders HYLS1 Alice Gardham commented on HYLS1
Rare multisystem ciliopathy disorders EVC2 Alice Gardham marked EVC2 as ready
Rare multisystem ciliopathy disorders EVC Alice Gardham marked EVC as ready
Rare multisystem ciliopathy disorders DYNC2H1 Alice Gardham marked DYNC2H1 as ready
Rare multisystem ciliopathy disorders DYNC2H1 Alice Gardham commented on DYNC2H1
Structural basal ganglia disorders PANK2 Richard Scott added PANK2 to panel
Structural basal ganglia disorders PANK2 Richard Scott reviewed PANK2
Rare multisystem ciliopathy disorders B9D2 Alice Gardham marked B9D2 as ready
Rare multisystem ciliopathy disorders B9D2 Alice Gardham commented on B9D2
Structural basal ganglia disorders PDE10A Richard Scott reviewed PDE10A
Undiagnosed metabolic disorders DNAJC5 Sarah Leigh marked DNAJC5 as ready
Undiagnosed metabolic disorders DNAJC5 Sarah Leigh commented on DNAJC5
Undiagnosed metabolic disorders EPM2A Sarah Leigh marked EPM2A as ready
Undiagnosed metabolic disorders EPM2A Sarah Leigh commented on EPM2A
Undiagnosed metabolic disorders FAH Sarah Leigh marked FAH as ready
Undiagnosed metabolic disorders FAH Sarah Leigh commented on FAH
Undiagnosed metabolic disorders GCSH Sarah Leigh marked GCSH as ready
Undiagnosed metabolic disorders GCSH Sarah Leigh commented on GCSH
Undiagnosed metabolic disorders GCSH Sarah Leigh classified GCSH as red
Undiagnosed metabolic disorders GIF Sarah Leigh marked GIF as ready
Undiagnosed metabolic disorders GIF Sarah Leigh commented on GIF
Undiagnosed metabolic disorders GNMT Sarah Leigh marked GNMT as ready
Undiagnosed metabolic disorders GNMT Sarah Leigh commented on GNMT
Undiagnosed metabolic disorders HGD Sarah Leigh marked HGD as ready
Undiagnosed metabolic disorders HGD Sarah Leigh commented on HGD
Undiagnosed metabolic disorders NHLRC1 Sarah Leigh marked NHLRC1 as ready
Undiagnosed metabolic disorders NHLRC1 Sarah Leigh commented on NHLRC1
Undiagnosed metabolic disorders PCBD1 Sarah Leigh marked PCBD1 as ready
Undiagnosed metabolic disorders PCBD1 Sarah Leigh commented on PCBD1
Undiagnosed metabolic disorders SLC36A2 Sarah Leigh classified SLC36A2 as red
Undiagnosed metabolic disorders SLC36A2 Sarah Leigh reviewed SLC36A2
Hereditary spastic paraplegia KIF1C Alice Gardham reviewed KIF1C
Undiagnosed metabolic disorders SLC6A19 Sarah Leigh marked SLC6A19 as ready
Undiagnosed metabolic disorders SLC6A19 Sarah Leigh commented on SLC6A19
Severe microcephaly PNKP Rebecca Foulger classified PNKP as green
Severe microcephaly PNKP Rebecca Foulger commented on PNKP
Severe microcephaly WDR73 Rebecca Foulger commented on WDR73
Undiagnosed metabolic disorders SLC6A19 Sarah Leigh classified SLC6A19 as green
Hereditary neuropathy SBF1 Alice Gardham reviewed SBF1
Severe microcephaly SLC9A6 Rebecca Foulger classified SLC9A6 as green
Severe microcephaly SLC9A6 Rebecca Foulger commented on SLC9A6
Brain channelopathy ADCY5 Arianna Tucci marked ADCY5 as ready
Severe microcephaly IER3IP1 Rebecca Foulger classified IER3IP1 as green
Hereditary neuropathy MME Alice Gardham reviewed MME
Brain channelopathy SCN8A Arianna Tucci marked SCN8A as ready
Brain channelopathy SCN8A Arianna Tucci classified SCN8A as green
Brain channelopathy SCN9A Arianna Tucci marked SCN9A as ready
Brain channelopathy SCN9A Arianna Tucci commented on SCN9A
Undiagnosed metabolic disorders SUOX Sarah Leigh marked SUOX as ready
Undiagnosed metabolic disorders SUOX Sarah Leigh marked SUOX as ready
Undiagnosed metabolic disorders SUOX Sarah Leigh commented on SUOX
Brain channelopathy SCN9A Arianna Tucci classified SCN9A as red
Undiagnosed metabolic disorders TCN1 Sarah Leigh marked TCN1 as ready
Undiagnosed metabolic disorders TCN1 Sarah Leigh commented on TCN1
Severe microcephaly IER3IP1 Rebecca Foulger commented on IER3IP1
Severe microcephaly TRMT10A Rebecca Foulger commented on TRMT10A
Severe microcephaly PPP1R15B Rebecca Foulger commented on PPP1R15B
Severe microcephaly MSMO1 Rebecca Foulger classified MSMO1 as red
Severe microcephaly MSMO1 Rebecca Foulger commented on MSMO1
Rare multisystem ciliopathy disorders BBIP1 Alice Gardham marked BBIP1 as ready
Rare multisystem ciliopathy disorders ATXN10 Alice Gardham marked ATXN10 as ready
Paediatric motor neuronopathies SETX Alice Gardham classified SETX as amber
Paediatric motor neuronopathies SIGMAR1 Alice Gardham marked SIGMAR1 as ready
Paediatric motor neuronopathies SIGMAR1 Alice Gardham added SIGMAR1 to panel
Paediatric motor neuronopathies SIGMAR1 Alice Gardham reviewed SIGMAR1
Paediatric motor neuronopathies SPG11 Alice Gardham added SPG11 to panel
Paediatric motor neuronopathies SPG11 Alice Gardham reviewed SPG11
Paediatric motor neuronopathies SETX Alice Gardham added SETX to panel
Paediatric motor neuronopathies SETX Alice Gardham reviewed SETX
Corneal abnormalities BEST1 Ellen McDonagh classified BEST1 as amber
Corneal abnormalities BEST1 Ellen McDonagh marked BEST1 as ready
Corneal abnormalities BEST1 Ellen McDonagh classified BEST1 as red
Brain channelopathy SLC2A1 Arianna Tucci marked SLC2A1 as ready
Brain channelopathy SLC2A1 Arianna Tucci commented on SLC2A1
Brain channelopathy SLC1A3 Arianna Tucci marked SLC1A3 as ready
Brain channelopathy SLC1A3 Arianna Tucci commented on SLC1A3
Brain channelopathy SCN1A Arianna Tucci commented on SCN1A
Brain channelopathy SCN1A Arianna Tucci marked SCN1A as ready
Brain channelopathy PRRT2 Arianna Tucci marked PRRT2 as ready
Brain channelopathy PRRT2 Arianna Tucci commented on PRRT2
Brain channelopathy PNKD Arianna Tucci marked PNKD as ready
Brain channelopathy PNKD Arianna Tucci marked PNKD as ready
Paediatric motor neuronopathies UBQLN1 Alice Gardham added UBQLN1 to panel
Paediatric motor neuronopathies UBQLN1 Alice Gardham reviewed UBQLN1
Paediatric motor neuronopathies VAPB Alice Gardham classified VAPB as red
Paediatric motor neuronopathies VAPB Alice Gardham reviewed VAPB
Paediatric motor neuronopathies UBA1 Alice Gardham classified UBA1 as green
Pneumothorax - familial PYCR1 Olivia Niblock marked PYCR1 as ready
Pneumothorax - familial MTHFR Olivia Niblock marked MTHFR as ready
Pneumothorax - familial LTBP4 Olivia Niblock marked LTBP4 as ready
Pneumothorax - familial FBN1 Olivia Niblock classified FBN1 as green
Pneumothorax - familial FBN1 Olivia Niblock commented on FBN1
Brain channelopathy KCNA1 Arianna Tucci marked KCNA1 as ready
Brain channelopathy KCNA1 Arianna Tucci commented on KCNA1
Brain channelopathy CACNB4 Arianna Tucci marked CACNB4 as ready
Brain channelopathy CACNB4 Arianna Tucci commented on CACNB4
Brain channelopathy CACNA1A Arianna Tucci marked CACNA1A as ready
Brain channelopathy CACNA1A Arianna Tucci commented on CACNA1A
Brain channelopathy ATP1A3 Arianna Tucci classified ATP1A3 as green
Brain channelopathy SCN8A Arianna Tucci added SCN8A to panel
Brain channelopathy SCN8A Arianna Tucci reviewed SCN8A
Ocular coloboma TCTN3 Alice Gardham classified TCTN3 as red
Ocular coloboma TMEM67 Alice Gardham classified TMEM67 as red
Ocular coloboma TMEM237 Alice Gardham classified TMEM237 as red
Ocular coloboma TMEM237 Alice Gardham commented on TMEM237
Ocular coloboma TMEM237 Alice Gardham classified TMEM237 as red
Ocular coloboma TMEM216 Alice Gardham classified TMEM216 as red
Ocular coloboma TMEM138 Alice Gardham classified TMEM138 as red
Ocular coloboma TCTN2 Alice Gardham classified TCTN2 as red
Ocular coloboma TCTN2 Alice Gardham commented on TCTN2
Ocular coloboma TCTN1 Alice Gardham classified TCTN1 as red
Ocular coloboma TCTN1 Alice Gardham commented on TCTN1
Ocular coloboma OFD1 Alice Gardham classified OFD1 as red
Ocular coloboma OFD1 Alice Gardham commented on OFD1
Ocular coloboma NPHP1 Alice Gardham classified NPHP1 as red
Ocular coloboma NPHP1 Alice Gardham commented on NPHP1
Ocular coloboma KIF7 Alice Gardham classified KIF7 as red
Ocular coloboma KIF7 Alice Gardham commented on KIF7
Ocular coloboma INPP5E Alice Gardham classified INPP5E as red
Ocular coloboma INPP5E Alice Gardham commented on INPP5E
Ocular coloboma CEP41 Alice Gardham classified CEP41 as red
Ocular coloboma CEP41 Alice Gardham commented on CEP41
Ocular coloboma CEP290 Alice Gardham classified CEP290 as red
Ocular coloboma CEP290 Alice Gardham commented on CEP290
Ocular coloboma C5orf42 Alice Gardham classified C5orf42 as red
Ocular coloboma C5orf42 Alice Gardham commented on C5orf42
Ocular coloboma ARL13B Alice Gardham classified ARL13B as red
Ocular coloboma ARL13B Alice Gardham commented on ARL13B
Ocular coloboma AHI1 Alice Gardham classified AHI1 as red
Ocular coloboma AHI1 Alice Gardham commented on AHI1
Familial non syndromic congenital heart disease NR2F2 Richard Scott classified NR2F2 as green
Familial non syndromic congenital heart disease NR2F2 Richard Scott reviewed NR2F2
Familial non syndromic congenital heart disease CITED2 Richard Scott classified CITED2 as red
Familial non syndromic congenital heart disease CITED2 Richard Scott commented on CITED2
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Pneumothorax - familial FBLN5 Olivia Niblock marked FBLN5 as ready
Pneumothorax - familial ELN Olivia Niblock marked ELN as ready
Pneumothorax - familial EFEMP2 Olivia Niblock marked EFEMP2 as ready
Retinal disorders LRP2 Louise Daugherty classified LRP2 as red
Retinal disorders COL18A1 Louise Daugherty classified COL18A1 as red
Retinal disorders ADGRV1 BRIDGE consortium reviewed ADGRV1
Retinal disorders WASF3 Louise Daugherty commented on WASF3
Retinal disorders UBAP1L Louise Daugherty commented on UBAP1L
Retinal disorders SLC37A3 Louise Daugherty commented on SLC37A3
Retinal disorders PRTFDC1 Louise Daugherty commented on PRTFDC1
Retinal disorders POMZP3 Louise Daugherty commented on POMZP3
Retinal disorders PODNL1 Louise Daugherty commented on PODNL1
Retinal disorders PLD4 Louise Daugherty commented on PLD4
Retinal disorders OR2M7 Louise Daugherty commented on OR2M7
Retinal disorders NUMB Louise Daugherty commented on NUMB
Retinal disorders NAALADL1 Louise Daugherty commented on NAALADL1
Retinal disorders ITIH2 Louise Daugherty commented on ITIH2
Retinal disorders IRX5 Louise Daugherty commented on IRX5
Retinal disorders FUT5 Louise Daugherty commented on FUT5
Retinal disorders FOXI2 Louise Daugherty commented on FOXI2
Retinal disorders FAM71A Louise Daugherty commented on FAM71A
Retinal disorders FAM57B Louise Daugherty commented on FAM57B
Retinal disorders CROCC Louise Daugherty commented on CROCC
Retinal disorders CCZ1B Louise Daugherty commented on CCZ1B
Retinal disorders SCAPER Louise Daugherty commented on SCAPER
Retinal disorders WASF3 Louise Daugherty reviewed WASF3
Retinal disorders UBAP1L Louise Daugherty reviewed UBAP1L
Retinal disorders SLC37A3 Louise Daugherty reviewed SLC37A3
Retinal disorders PRTFDC1 Louise Daugherty reviewed PRTFDC1
Retinal disorders POMZP3 Louise Daugherty reviewed POMZP3
Retinal disorders PODNL1 Louise Daugherty reviewed PODNL1
Retinal disorders PLD4 Louise Daugherty reviewed PLD4
Retinal disorders OR2M7 Louise Daugherty reviewed OR2M7
Retinal disorders NUMB Louise Daugherty reviewed NUMB
Retinal disorders NAALADL1 Louise Daugherty reviewed NAALADL1
Retinal disorders ITIH2 Louise Daugherty reviewed ITIH2
Retinal disorders IRX5 Louise Daugherty reviewed IRX5
Retinal disorders FUT5 Louise Daugherty reviewed FUT5
Retinal disorders FOXI2 Louise Daugherty reviewed FOXI2
Retinal disorders FAM71A Louise Daugherty reviewed FAM71A
Retinal disorders FAM57B Louise Daugherty reviewed FAM57B
Retinal disorders CROCC Louise Daugherty reviewed CROCC
Retinal disorders CCZ1B Louise Daugherty reviewed CCZ1B
Retinal disorders SCAPER Louise Daugherty reviewed SCAPER
Undiagnosed metabolic disorders QDPR Sarah Leigh marked QDPR as ready
Undiagnosed metabolic disorders QDPR Sarah Leigh classified QDPR as green
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh marked PRKAG2 as ready
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh classified PRKAG2 as green
Undiagnosed metabolic disorders PHKA1 Sarah Leigh marked PHKA1 as ready
Undiagnosed metabolic disorders PHKA1 Sarah Leigh classified PHKA1 as green
Undiagnosed metabolic disorders PGK1 Sarah Leigh marked PGK1 as ready
Rhabdomyolysis and metabolic muscle disorders PGK1 Sarah Leigh marked PGK1 as ready
Undiagnosed metabolic disorders PGK1 Sarah Leigh classified PGK1 as green
Undiagnosed metabolic disorders PAH Sarah Leigh marked PAH as ready
Retinal disorders VPS13B BRIDGE consortium reviewed VPS13B
Retinal disorders VCAN BRIDGE consortium reviewed VCAN
Retinal disorders USH2A BRIDGE consortium reviewed USH2A
Retinal disorders USH1C BRIDGE consortium reviewed USH1C
Retinal disorders TSPAN12 BRIDGE consortium reviewed TSPAN12
Retinal disorders TRPM1 BRIDGE consortium reviewed TRPM1
Retinal disorders TOPORS BRIDGE consortium reviewed TOPORS
Retinal disorders SPATA7 BRIDGE consortium reviewed SPATA7
Retinal disorders SNRNP200 BRIDGE consortium reviewed SNRNP200
Retinal disorders RPGRIP1 BRIDGE consortium reviewed RPGRIP1
Retinal disorders RPGR BRIDGE consortium reviewed RPGR
Retinal disorders RPE65 BRIDGE consortium reviewed RPE65
Retinal disorders RP2 BRIDGE consortium reviewed RP2
Retinal disorders RP1 BRIDGE consortium reviewed RP1
Retinal disorders RLBP1 BRIDGE consortium reviewed RLBP1
Retinal disorders RHO BRIDGE consortium reviewed RHO
Retinal disorders RGR BRIDGE consortium reviewed RGR
Retinal disorders RBP4 BRIDGE consortium reviewed RBP4
Retinal disorders PRPH2 BRIDGE consortium reviewed PRPH2
Retinal disorders PRPF8 BRIDGE consortium reviewed PRPF8
Retinal disorders PRPF31 BRIDGE consortium reviewed PRPF31
Retinal disorders PROM1 BRIDGE consortium reviewed PROM1
Retinal disorders PDE6C BRIDGE consortium reviewed PDE6C
Retinal disorders PDE6B BRIDGE consortium reviewed PDE6B
Retinal disorders PCDH15 BRIDGE consortium reviewed PCDH15
Retinal disorders OTX2 BRIDGE consortium reviewed OTX2
Retinal disorders OPN1LW BRIDGE consortium reviewed OPN1LW
Retinal disorders OPA1 BRIDGE consortium reviewed OPA1
Retinal disorders OCA2 BRIDGE consortium reviewed OCA2
Retinal disorders NR2E3 BRIDGE consortium reviewed NR2E3
Retinal disorders NMNAT1 BRIDGE consortium reviewed NMNAT1
Retinal disorders MYO7A BRIDGE consortium reviewed MYO7A
Retinal disorders MFSD8 BRIDGE consortium reviewed MFSD8
Retinal disorders MFRP BRIDGE consortium reviewed MFRP
Retinal disorders MERTK BRIDGE consortium reviewed MERTK
Retinal disorders LRP5 BRIDGE consortium reviewed LRP5
Undiagnosed metabolic disorders PAH Sarah Leigh classified PAH as green
Retinal disorders LRP2 BRIDGE consortium reviewed LRP2
Retinal disorders LCA5 BRIDGE consortium reviewed LCA5
Retinal disorders KLHL7 BRIDGE consortium reviewed KLHL7
Retinal disorders KCNV2 BRIDGE consortium reviewed KCNV2
Retinal disorders IQCB1 BRIDGE consortium reviewed IQCB1
Retinal disorders IMPG2 BRIDGE consortium reviewed IMPG2
Retinal disorders IMPG1 BRIDGE consortium reviewed IMPG1
Retinal disorders GUCY2D BRIDGE consortium reviewed GUCY2D
Retinal disorders GUCA1A BRIDGE consortium reviewed GUCA1A
Retinal disorders GRM6 BRIDGE consortium reviewed GRM6
Retinal disorders GRK1 BRIDGE consortium reviewed GRK1
Retinal disorders GPR98 BRIDGE consortium reviewed GPR98*
Retinal disorders GPR179 BRIDGE consortium reviewed GPR179
Retinal disorders GPR143 BRIDGE consortium reviewed GPR143
Retinal disorders FLVCR1 BRIDGE consortium reviewed FLVCR1
Retinal disorders FAM161A BRIDGE consortium reviewed FAM161A
Retinal disorders EYS BRIDGE consortium reviewed EYS
Retinal disorders CYP4V2 BRIDGE consortium reviewed CYP4V2
Retinal disorders CRX BRIDGE consortium reviewed CRX
Retinal disorders CRB1 BRIDGE consortium reviewed CRB1
Retinal disorders COL2A1 BRIDGE consortium reviewed COL2A1
Retinal disorders COL18A1 BRIDGE consortium reviewed COL18A1
Retinal disorders COL11A2 BRIDGE consortium reviewed COL11A2
Retinal disorders CNGB3 BRIDGE consortium reviewed CNGB3
Retinal disorders CNGB1 BRIDGE consortium reviewed CNGB1
Retinal disorders CNGA3 BRIDGE consortium reviewed CNGA3
Retinal disorders CNGA1 BRIDGE consortium reviewed CNGA1
Retinal disorders CLN3 BRIDGE consortium reviewed CLN3
Retinal disorders CERKL BRIDGE consortium reviewed CERKL
Retinal disorders CEP290 BRIDGE consortium reviewed CEP290
Retinal disorders CDHR1 BRIDGE consortium reviewed CDHR1
Retinal disorders CACNA2D4 BRIDGE consortium reviewed CACNA2D4
Retinal disorders CACNA1F BRIDGE consortium reviewed CACNA1F
Retinal disorders CABP4 BRIDGE consortium reviewed CABP4
Retinal disorders C2orf71 BRIDGE consortium reviewed C2orf71
Retinal disorders BBS10 BRIDGE consortium reviewed BBS10
Retinal disorders BBS1 BRIDGE consortium reviewed BBS1
Retinal disorders ATF6 BRIDGE consortium reviewed ATF6
Retinal disorders ALMS1 BRIDGE consortium reviewed ALMS1
Retinal disorders AIPL1 BRIDGE consortium reviewed AIPL1
Retinal disorders AHI1 BRIDGE consortium reviewed AHI1
Retinal disorders ABHD12 BRIDGE consortium reviewed ABHD12
Retinal disorders ABCA4 BRIDGE consortium reviewed ABCA4
Undiagnosed metabolic disorders MAT1A Sarah Leigh marked MAT1A as ready
Undiagnosed metabolic disorders MAT1A Sarah Leigh classified MAT1A as green
Pneumothorax - familial COL3A1 Olivia Niblock marked COL3A1 as ready
Undiagnosed metabolic disorders MAOA Sarah Leigh marked MAOA as ready
Undiagnosed metabolic disorders LAMP2 Sarah Leigh marked LAMP2 as ready
Undiagnosed metabolic disorders LAMP2 Sarah Leigh classified LAMP2 as green
Undiagnosed metabolic disorders L2HGDH Sarah Leigh marked L2HGDH as ready
Undiagnosed metabolic disorders L2HGDH Sarah Leigh classified L2HGDH as green
Undiagnosed metabolic disorders HEXB Sarah Leigh marked HEXB as ready
Undiagnosed metabolic disorders HEXB Sarah Leigh classified HEXB as green