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Undiagnosed metabolic disorders HEXA Sarah Leigh marked HEXA as ready
Undiagnosed metabolic disorders HEXA Sarah Leigh classified HEXA as green
Undiagnosed metabolic disorders GYG1 Sarah Leigh marked GYG1 as ready
Undiagnosed metabolic disorders GYG1 Sarah Leigh classified GYG1 as green
Undiagnosed metabolic disorders GLDC Sarah Leigh marked GLDC as ready
Undiagnosed metabolic disorders GLDC Sarah Leigh classified GLDC as green
Undiagnosed metabolic disorders GCH1 Sarah Leigh marked GCH1 as ready
Undiagnosed metabolic disorders GCH1 Sarah Leigh classified GCH1 as green
Undiagnosed metabolic disorders GCDH Sarah Leigh marked GCDH as ready
Undiagnosed metabolic disorders GCDH Sarah Leigh classified GCDH as green
Undiagnosed metabolic disorders GALK1 Sarah Leigh marked GALK1 as ready
Undiagnosed metabolic disorders GALK1 Sarah Leigh classified GALK1 as green
Undiagnosed metabolic disorders G6PC3 Sarah Leigh marked G6PC3 as ready
Undiagnosed metabolic disorders G6PC3 Sarah Leigh classified G6PC3 as green
Undiagnosed metabolic disorders G6PC3 Sarah Leigh classified G6PC3 as green
Undiagnosed metabolic disorders FUCA1 Sarah Leigh marked FUCA1 as ready
Undiagnosed metabolic disorders FUCA1 Sarah Leigh classified FUCA1 as green
Undiagnosed metabolic disorders FTCD Sarah Leigh marked FTCD as ready
Undiagnosed metabolic disorders DDC Sarah Leigh marked DDC as ready
Undiagnosed metabolic disorders DDC Sarah Leigh classified DDC as green
Undiagnosed metabolic disorders D2HGDH Sarah Leigh marked D2HGDH as ready
Undiagnosed metabolic disorders D2HGDH Sarah Leigh classified D2HGDH as green
Severe microcephaly POC1A Rebecca Foulger classified POC1A as red
Undiagnosed metabolic disorders CTSK Sarah Leigh marked CTSK as ready
Congenital muscular dystrophy ITGA7 Ellen McDonagh classified ITGA7 as amber
Congenital muscular dystrophy ITGA7 Ellen McDonagh commented on ITGA7
Undiagnosed metabolic disorders CTSK Sarah Leigh classified CTSK as green
Undiagnosed metabolic disorders CTSD Sarah Leigh marked CTSD as ready
Undiagnosed metabolic disorders CTSD Sarah Leigh classified CTSD as green
Undiagnosed metabolic disorders CTSA Sarah Leigh marked CTSA as ready
Undiagnosed metabolic disorders CTSA Sarah Leigh classified CTSA as green
Undiagnosed metabolic disorders CBS Sarah Leigh marked CBS as ready
Undiagnosed metabolic disorders CBS Sarah Leigh classified CBS as green
Undiagnosed metabolic disorders ASPA Sarah Leigh marked ASPA as ready
Undiagnosed metabolic disorders ASPA Sarah Leigh classified ASPA as green
Undiagnosed metabolic disorders AMT Sarah Leigh marked AMT as ready
Undiagnosed metabolic disorders AMT Sarah Leigh classified AMT as green
Pneumothorax - familial COL3A1 Olivia Niblock classified COL3A1 as green
Pneumothorax - familial COL3A1 Olivia Niblock commented on COL3A1
Undiagnosed metabolic disorders AMN Sarah Leigh marked AMN as ready
Undiagnosed metabolic disorders AMN Sarah Leigh classified AMN as green
Undiagnosed metabolic disorders ABCD4 Sarah Leigh marked ABCD4 as ready
Undiagnosed metabolic disorders ABCD4 Sarah Leigh classified ABCD4 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A2 Arianna Tucci classified ATP1A2 as green
Brain channelopathy ATP1A3 Arianna Tucci marked ATP1A3 as ready
Brain channelopathy ATP1A2 Arianna Tucci marked ATP1A2 as ready
Brain channelopathy ATP1A2 Arianna Tucci commented on ATP1A2
Brain channelopathy SLC6A5 Arianna Tucci added SLC6A5 to panel
Brain channelopathy SLC6A5 Arianna Tucci reviewed SLC6A5
Severe microcephaly CRIPT Rebecca Foulger classified CRIPT as amber
Severe microcephaly CRIPT Rebecca Foulger added CRIPT to panel
Severe microcephaly CRIPT Rebecca Foulger reviewed CRIPT
Severe microcephaly QARS Rebecca Foulger classified QARS as amber
Severe microcephaly QARS Rebecca Foulger commented on QARS
Severe microcephaly DIAPH1 Rebecca Foulger classified DIAPH1 as amber
Undiagnosed metabolic disorders SUMF1 Sarah Leigh marked SUMF1 as ready
Undiagnosed metabolic disorders SUMF1 Sarah Leigh classified SUMF1 as green
Undiagnosed metabolic disorders SMPD1 Sarah Leigh marked SMPD1 as ready
Undiagnosed metabolic disorders SMPD1 Sarah Leigh classified SMPD1 as green
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh marked SLC17A5 as ready
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh classified SLC17A5 as green
Undiagnosed metabolic disorders PPT1 Sarah Leigh marked PPT1 as ready
Undiagnosed metabolic disorders PPT1 Sarah Leigh classified PPT1 as green
Undiagnosed metabolic disorders PFKM Sarah Leigh marked PFKM as ready
Undiagnosed metabolic disorders PFKM Sarah Leigh classified PFKM as green
Undiagnosed metabolic disorders NPC2 Sarah Leigh marked NPC2 as ready
Undiagnosed metabolic disorders NPC2 Sarah Leigh classified NPC2 as green
Undiagnosed metabolic disorders NPC1 Sarah Leigh marked NPC1 as ready
Undiagnosed metabolic disorders NPC1 Sarah Leigh classified NPC1 as green
Brain channelopathy GLRB Arianna Tucci added GLRB to panel
Brain channelopathy GLRB Arianna Tucci reviewed GLRB
Brain channelopathy GLRA1 Arianna Tucci added GLRA1 to panel
Brain channelopathy GLRA1 Arianna Tucci reviewed GLRA1
Undiagnosed metabolic disorders NAGA Sarah Leigh marked NAGA as ready
Undiagnosed metabolic disorders NAGA Sarah Leigh classified NAGA as green
Congenital muscular dystrophy ISPD Ellen McDonagh marked ISPD as ready
Congenital muscular dystrophy ISPD Ellen McDonagh commented on ISPD
Undiagnosed metabolic disorders MTRR Sarah Leigh marked MTRR as ready
Undiagnosed metabolic disorders MTRR Sarah Leigh classified MTRR as green
Undiagnosed metabolic disorders MTR Sarah Leigh marked MTR as ready
Undiagnosed metabolic disorders MTR Sarah Leigh classified MTR as green
Undiagnosed metabolic disorders MMADHC Sarah Leigh marked MMADHC as ready
Undiagnosed metabolic disorders MMADHC Sarah Leigh classified MMADHC as green
Undiagnosed metabolic disorders MMACHC Sarah Leigh marked MMACHC as ready
Undiagnosed metabolic disorders MMACHC Sarah Leigh classified MMACHC as green
Undiagnosed metabolic disorders MFSD8 Sarah Leigh marked MFSD8 as ready
Undiagnosed metabolic disorders MFSD8 Sarah Leigh classified MFSD8 as green
Undiagnosed metabolic disorders MCCC2 Sarah Leigh marked MCCC2 as ready
Undiagnosed metabolic disorders MCCC2 Sarah Leigh classified MCCC2 as green
Undiagnosed metabolic disorders MCCC1 Sarah Leigh marked MCCC1 as ready
Undiagnosed metabolic disorders MCCC1 Sarah Leigh classified MCCC1 as green
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh marked MAN2B1 as ready
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh classified MAN2B1 as green
Undiagnosed metabolic disorders LPIN1 Sarah Leigh marked LPIN1 as ready
Undiagnosed metabolic disorders LPIN1 Sarah Leigh classified LPIN1 as green
Undiagnosed metabolic disorders LMBRD1 Sarah Leigh marked LMBRD1 as ready
Undiagnosed metabolic disorders LMBRD1 Sarah Leigh commented on LMBRD1
Undiagnosed metabolic disorders LIPA Sarah Leigh marked LIPA as ready
Periodic fever syndromes PSTPIP1 Rebecca Foulger classified PSTPIP1 as amber
Periodic fever syndromes PSTPIP1 Rebecca Foulger edited their review of PSTPIP1
Periodic fever syndromes PSTPIP1 Rebecca Foulger commented on PSTPIP1
Undiagnosed metabolic disorders LIPA Sarah Leigh classified LIPA as green
Congenital muscular dystrophy FKTN Ellen McDonagh edited their review of FKTN
Congenital muscular dystrophy FKTN Ellen McDonagh marked FKTN as ready
Congenital muscular dystrophy FKTN Ellen McDonagh commented on FKTN
Periodic fever syndromes ELANE Rebecca Foulger classified ELANE as amber
Periodic fever syndromes ELANE Rebecca Foulger commented on ELANE
Periodic fever syndromes ELANE Rebecca Foulger edited their review of ELANE
Undiagnosed metabolic disorders HYAL1 Sarah Leigh commented on HYAL1
Undiagnosed metabolic disorders HYAL1 Sarah Leigh marked HYAL1 as ready
Undiagnosed metabolic disorders HYAL1 Sarah Leigh classified HYAL1 as red
Periodic fever syndromes ELANE Rebecca Foulger commented on ELANE
Periodic fever syndromes LPIN2 Rebecca Foulger classified LPIN2 as amber
Undiagnosed metabolic disorders HMGCS2 Sarah Leigh marked HMGCS2 as ready
Undiagnosed metabolic disorders HMGCS2 Sarah Leigh commented on HMGCS2
Periodic fever syndromes LPIN2 Rebecca Foulger commented on LPIN2
Undiagnosed metabolic disorders GYS1 Sarah Leigh marked GYS1 as ready
Undiagnosed metabolic disorders GYS1 Sarah Leigh classified GYS1 as green
Undiagnosed metabolic disorders GM2A Sarah Leigh marked GM2A as ready
Undiagnosed metabolic disorders GM2A Sarah Leigh classified GM2A as green
Undiagnosed metabolic disorders GM2A Sarah Leigh classified GM2A as green
Periodic fever syndromes TTR Rebecca Foulger commented on TTR
Undiagnosed metabolic disorders GALC Sarah Leigh marked GALC as ready
Undiagnosed metabolic disorders GALC Sarah Leigh classified GALC as green
Undiagnosed metabolic disorders GAA Sarah Leigh marked GAA as ready
Undiagnosed metabolic disorders GAA Sarah Leigh classified GAA as green
Undiagnosed metabolic disorders ENO3 Sarah Leigh marked ENO3 as ready
Undiagnosed metabolic disorders ENO3 Sarah Leigh classified ENO3 as green
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh marked CYP27A1 as ready
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh classified CYP27A1 as green
Undiagnosed metabolic disorders CLN8 Sarah Leigh marked CLN8 as ready
Undiagnosed metabolic disorders CLN8 Sarah Leigh classified CLN8 as green
Undiagnosed metabolic disorders CLN6 Sarah Leigh marked CLN6 as ready
Undiagnosed metabolic disorders CLN6 Sarah Leigh classified CLN6 as green
Undiagnosed metabolic disorders CLN5 Sarah Leigh marked CLN5 as ready
Undiagnosed metabolic disorders CLN5 Sarah Leigh classified CLN5 as green
Undiagnosed metabolic disorders CLN3 Sarah Leigh marked CLN3 as ready
Undiagnosed metabolic disorders CLN3 Sarah Leigh classified CLN3 as green
Undiagnosed metabolic disorders CD320 Sarah Leigh marked CD320 as ready
Undiagnosed metabolic disorders CD320 Sarah Leigh commented on CD320
Undiagnosed metabolic disorders CD320 Sarah Leigh classified CD320 as red
Undiagnosed metabolic disorders ARSA Sarah Leigh marked ARSA as ready
Undiagnosed metabolic disorders ARSA Sarah Leigh classified ARSA as green
Undiagnosed metabolic disorders ALDH5A1 Sarah Leigh marked ALDH5A1 as ready
Undiagnosed metabolic disorders ALDH5A1 Sarah Leigh classified ALDH5A1 as green
Undiagnosed metabolic disorders AGA Sarah Leigh marked AGA as ready
Undiagnosed metabolic disorders AGA Sarah Leigh classified AGA as green
Severe microcephaly DIAPH1 Rebecca Foulger commented on DIAPH1
Arthrogryposis Ellen McDonagh promoted panel to version 2
Undiagnosed metabolic disorders ACADS Sarah Leigh marked ACADS as ready
Undiagnosed metabolic disorders ACADS Sarah Leigh commented on ACADS
Arthrogryposis MYH7 Alice Gardham classified MYH7 as green
Periodic fever syndromes NLRP12 Rebecca Foulger classified NLRP12 as green
Arthrogryposis DNM2 Alice Gardham classified DNM2 as green
Arthrogryposis SMAD4 Alice Gardham marked SMAD4 as ready
Arthrogryposis SMAD4 Alice Gardham classified SMAD4 as green
Periodic fever syndromes NLRP12 Rebecca Foulger commented on NLRP12
Arthrogryposis ADAMTS10 Alice Gardham marked ADAMTS10 as ready
Arthrogryposis ADAMTS10 Alice Gardham classified ADAMTS10 as green
Arthrogryposis SKI Alice Gardham marked SKI as ready
Arthrogryposis SKI Alice Gardham classified SKI as green
Arthrogryposis SKI Alice Gardham reviewed SKI
Periodic fever syndromes NLRP12 Rebecca Foulger commented on NLRP12
Arthrogryposis STIM1 Alice Gardham marked STIM1 as ready
Periodic fever syndromes NLRP3 Rebecca Foulger classified NLRP3 as green
Arthrogryposis ORAI1 Alice Gardham marked ORAI1 as ready
Periodic fever syndromes NLRP3 Rebecca Foulger commented on NLRP3
Periodic fever syndromes MVK Rebecca Foulger classified MVK as green
Periodic fever syndromes MVK Rebecca Foulger edited their review of MVK
Periodic fever syndromes MVK Rebecca Foulger commented on MVK
Periodic fever syndromes MEFV Rebecca Foulger classified MEFV as green
Periodic fever syndromes MEFV Rebecca Foulger edited their review of MEFV
Periodic fever syndromes MEFV Rebecca Foulger commented on MEFV
Arthrogryposis Antonio Rueda approved panel
Pneumothorax - familial ATP7A Olivia Niblock marked ATP7A as ready
Undiagnosed metabolic disorders RYR1 Ellen McDonagh classified RYR1 as amber
Undiagnosed metabolic disorders RYR1 Arianna Tucci reviewed RYR1
Undiagnosed metabolic disorders AMPD1 Arianna Tucci reviewed AMPD1
Undiagnosed metabolic disorders TYMP Arianna Tucci reviewed TYMP
Undiagnosed metabolic disorders TK2 Arianna Tucci reviewed TK2
Undiagnosed metabolic disorders SUCLA2 Arianna Tucci reviewed SUCLA2
Undiagnosed metabolic disorders SLC22A5 Arianna Tucci reviewed SLC22A5
Undiagnosed metabolic disorders RRM2B Arianna Tucci reviewed RRM2B
Undiagnosed metabolic disorders RBCK1 Arianna Tucci reviewed RBCK1
Undiagnosed metabolic disorders PYGM Arianna Tucci reviewed PYGM
Undiagnosed metabolic disorders PRKAG2 Arianna Tucci reviewed PRKAG2
Undiagnosed metabolic disorders POLG2 Arianna Tucci reviewed POLG2
Undiagnosed metabolic disorders POLG Arianna Tucci reviewed POLG
Undiagnosed metabolic disorders PHKB Arianna Tucci reviewed PHKB
Undiagnosed metabolic disorders PHKA1 Arianna Tucci reviewed PHKA1
Undiagnosed metabolic disorders PGM1 Arianna Tucci reviewed PGM1
Undiagnosed metabolic disorders PGK1 Arianna Tucci reviewed PGK1
Undiagnosed metabolic disorders PGAM2 Arianna Tucci reviewed PGAM2
Undiagnosed metabolic disorders PFKM Arianna Tucci reviewed PFKM
Undiagnosed metabolic disorders LPIN1 Arianna Tucci reviewed LPIN1
Undiagnosed metabolic disorders LDHA Arianna Tucci reviewed LDHA
Undiagnosed metabolic disorders LAMP2 Arianna Tucci reviewed LAMP2
Undiagnosed metabolic disorders ISCU Arianna Tucci reviewed ISCU
Undiagnosed metabolic disorders HADHB Arianna Tucci reviewed HADHB
Undiagnosed metabolic disorders HADHA Arianna Tucci reviewed HADHA
Undiagnosed metabolic disorders GYS1 Arianna Tucci reviewed GYS1
Undiagnosed metabolic disorders GYG1 Arianna Tucci reviewed GYG1
Undiagnosed metabolic disorders GBE1 Arianna Tucci reviewed GBE1
Undiagnosed metabolic disorders GAA Arianna Tucci reviewed GAA
Undiagnosed metabolic disorders ETFDH Arianna Tucci reviewed ETFDH
Undiagnosed metabolic disorders ETFB Arianna Tucci reviewed ETFB
Undiagnosed metabolic disorders ETFA Arianna Tucci reviewed ETFA
Undiagnosed metabolic disorders ENO3 Arianna Tucci reviewed ENO3
Undiagnosed metabolic disorders CPT2 Arianna Tucci reviewed CPT2
Undiagnosed metabolic disorders ALDOA Arianna Tucci reviewed ALDOA
Undiagnosed metabolic disorders AGL Arianna Tucci reviewed AGL
Undiagnosed metabolic disorders ACADVL Arianna Tucci reviewed ACADVL
Undiagnosed metabolic disorders ACADM Arianna Tucci reviewed ACADM
Undiagnosed metabolic disorders ACAD9 Arianna Tucci reviewed ACAD9
Pneumothorax - familial ATP6V0A2 Olivia Niblock marked ATP6V0A2 as ready
Pneumothorax - familial ATP6V0A2 Olivia Niblock commented on ATP6V0A2
Pneumothorax - familial ALDH18A1 Olivia Niblock commented on ALDH18A1
Pneumothorax - familial FLCN Olivia Niblock marked FLCN as ready
Arthrogryposis PIP5K1C Ellen McDonagh marked PIP5K1C as ready
Arthrogryposis PIP5K1C Ellen McDonagh classified PIP5K1C as amber
Arthrogryposis PIP5K1C Ellen McDonagh commented on PIP5K1C
Arthrogryposis ERBB3 Ellen McDonagh marked ERBB3 as ready
Arthrogryposis ERBB3 Ellen McDonagh commented on ERBB3
Arthrogryposis ERBB3 Ellen McDonagh classified ERBB3 as amber
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci classified CACNA1S as green
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci commented on CACNA1S
Intellectual disability SLC2A1 Sarah Leigh commented on SLC2A1
Hereditary neuropathy PRPS1 Sarah Leigh reviewed PRPS1
Hereditary ataxia SLC2A1 Sarah Leigh commented on SLC2A1
Amyotrophic lateral sclerosis/motor neuron disease SETX Sarah Leigh commented on SETX
Severe microcephaly QARS Alice Gardham added QARS to panel
Severe microcephaly QARS Alice Gardham reviewed QARS
Undiagnosed metabolic disorders BCKDK Sarah Leigh classified BCKDK as green
Undiagnosed metabolic disorders BCKDK Sarah Leigh classified BCKDK as green
Undiagnosed metabolic disorders BCKDK Sarah Leigh classified BCKDK as green
Undiagnosed metabolic disorders BCKDK Sarah Leigh marked BCKDK as ready
Undiagnosed metabolic disorders BCKDK Sarah Leigh added BCKDK to panel
Undiagnosed metabolic disorders BCKDK Sarah Leigh reviewed BCKDK
Undiagnosed metabolic disorders CUBN Sarah Leigh marked CUBN as ready
Undiagnosed metabolic disorders CUBN Sarah Leigh classified CUBN as green
Undiagnosed metabolic disorders ALDH4A1 Sarah Leigh classified ALDH4A1 as green
Undiagnosed metabolic disorders ALDH4A1 Sarah Leigh marked ALDH4A1 as ready
Undiagnosed metabolic disorders GALE Sarah Leigh marked GALE as ready
Undiagnosed metabolic disorders GALE Sarah Leigh classified GALE as green
Undiagnosed metabolic disorders TPP1 Sarah Leigh marked TPP1 as ready
Undiagnosed metabolic disorders TPP1 Sarah Leigh classified TPP1 as green
Severe microcephaly CKAP2L Alice Gardham marked CKAP2L as ready
Severe microcephaly CKAP2L Alice Gardham classified CKAP2L as green
Severe microcephaly CKAP2L Alice Gardham commented on CKAP2L
Severe microcephaly STAMBP Alice Gardham marked STAMBP as ready
Severe microcephaly STAMBP Alice Gardham classified STAMBP as green
Severe microcephaly STAMBP Alice Gardham added STAMBP to panel
Severe microcephaly STAMBP Alice Gardham reviewed STAMBP
Undiagnosed metabolic disorders ACSF3 Sarah Leigh marked ACSF3 as ready
Undiagnosed metabolic disorders ACSF3 Sarah Leigh commented on ACSF3
Severe microcephaly NHEJ1 Alice Gardham marked NHEJ1 as ready
Severe microcephaly NHEJ1 Alice Gardham added NHEJ1 to panel
Severe microcephaly NHEJ1 Alice Gardham reviewed NHEJ1
Undiagnosed metabolic disorders DPYS Sarah Leigh marked DPYS as ready
Undiagnosed metabolic disorders DPYS Sarah Leigh commented on DPYS
Undiagnosed metabolic disorders DPYS Sarah Leigh classified DPYS as green
Undiagnosed metabolic disorders AASS Sarah Leigh marked AASS as ready
Undiagnosed metabolic disorders AASS Sarah Leigh classified AASS as green
Severe microcephaly DDX11 Alice Gardham added DDX11 to panel
Severe microcephaly DDX11 Alice Gardham reviewed DDX11
Severe microcephaly NBN Alice Gardham marked NBN as ready
Severe microcephaly NBN Alice Gardham added NBN to panel
Severe microcephaly NBN Alice Gardham reviewed NBN
Undiagnosed metabolic disorders GALT Sarah Leigh marked GALT as ready
Undiagnosed metabolic disorders GALT Sarah Leigh classified GALT as green
Undiagnosed metabolic disorders UMPS Sarah Leigh marked UMPS as ready
Undiagnosed metabolic disorders UMPS Sarah Leigh classified UMPS as green
Periodic fever syndromes TNFRSF1A Rebecca Foulger classified TNFRSF1A as green
Severe microcephaly ZEB2 Alice Gardham marked ZEB2 as ready
Severe microcephaly ZEB2 Alice Gardham added ZEB2 to panel
Severe microcephaly ZEB2 Alice Gardham reviewed ZEB2
Periodic fever syndromes TNFRSF1A Rebecca Foulger commented on TNFRSF1A
Severe microcephaly DHCR7 Alice Gardham marked DHCR7 as ready
Severe microcephaly DHCR7 Alice Gardham added DHCR7 to panel
Severe microcephaly DHCR7 Alice Gardham reviewed DHCR7
Severe microcephaly CIT Alice Gardham marked CIT as ready
Severe microcephaly CIT Alice Gardham classified CIT as green
Severe microcephaly CIT Alice Gardham reviewed CIT
Severe microcephaly ANKLE2 Alice Gardham marked ANKLE2 as ready
Severe microcephaly ANKLE2 Alice Gardham reviewed ANKLE2
Severe microcephaly MFSD2A Alice Gardham marked MFSD2A as ready
Severe microcephaly MFSD2A Alice Gardham classified MFSD2A as green
Severe microcephaly MFSD2A Alice Gardham reviewed MFSD2A
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh classified SLC30A10 as green
Severe microcephaly ZNF335 Alice Gardham reviewed ZNF335
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh marked SLC30A10 as ready
Severe microcephaly MCPH1 Alice Gardham marked MCPH1 as ready
Severe microcephaly MCPH1 Alice Gardham commented on MCPH1
Severe microcephaly CDK5RAP2 Alice Gardham marked CDK5RAP2 as ready
Severe microcephaly CDK5RAP2 Alice Gardham commented on CDK5RAP2
Severe microcephaly CASK Alice Gardham marked CASK as ready
Severe microcephaly ASPM Alice Gardham marked ASPM as ready
Severe microcephaly PCNT Alice Gardham marked PCNT as ready
Severe microcephaly PCNT Alice Gardham commented on PCNT
Severe microcephaly RTTN Alice Gardham marked RTTN as ready
Severe microcephaly RTTN Alice Gardham classified RTTN as green
Severe microcephaly RTTN Alice Gardham reviewed RTTN
Undiagnosed metabolic disorders CYP7B1 Sarah Leigh marked CYP7B1 as ready
Severe microcephaly CASC5 Alice Gardham marked CASC5 as ready
Severe microcephaly CASC5 Alice Gardham reviewed CASC5
Severe microcephaly STIL Alice Gardham marked STIL as ready
Severe microcephaly STIL Alice Gardham commented on STIL
Severe microcephaly WDR62 Alice Gardham marked WDR62 as ready
Severe microcephaly WDR62 Alice Gardham commented on WDR62
Severe microcephaly CEP152 Alice Gardham marked CEP152 as ready
Severe microcephaly CEP152 Alice Gardham commented on CEP152
Severe microcephaly CENPJ Alice Gardham marked CENPJ as ready
Severe microcephaly CENPJ Alice Gardham marked CENPJ as ready
Severe microcephaly CENPJ Alice Gardham commented on CENPJ
Undiagnosed metabolic disorders PNPO Sarah Leigh marked PNPO as ready
Undiagnosed metabolic disorders PNPO Sarah Leigh commented on PNPO
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh classified ALDH7A1 as green
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh classified ALDH7A1 as green
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh marked ALDH7A1 as ready
Severe microcephaly NDE1 Alice Gardham marked NDE1 as ready
Severe microcephaly NDE1 Alice Gardham classified NDE1 as green
Severe microcephaly NDE1 Alice Gardham reviewed NDE1
Severe microcephaly BLM Alice Gardham marked BLM as ready
Severe microcephaly BLM Alice Gardham reviewed BLM
Severe microcephaly LIG4 Alice Gardham marked LIG4 as ready
Severe microcephaly LIG4 Alice Gardham classified LIG4 as green
Severe microcephaly LIG4 Alice Gardham reviewed LIG4
Severe microcephaly XRCC4 Alice Gardham marked XRCC4 as ready
Severe microcephaly XRCC4 Alice Gardham classified XRCC4 as green
Severe microcephaly XRCC4 Alice Gardham reviewed XRCC4
Severe microcephaly CENPF Alice Gardham marked CENPF as ready
Severe microcephaly CENPF Alice Gardham classified CENPF as green
Severe microcephaly CENPF Alice Gardham reviewed CENPF
Severe microcephaly TRAIP Alice Gardham marked TRAIP as ready
Severe microcephaly TRAIP Alice Gardham classified TRAIP as green
Severe microcephaly TRAIP Alice Gardham reviewed TRAIP
Severe microcephaly TUBGCP4 Alice Gardham marked TUBGCP4 as ready
Severe microcephaly TUBGCP4 Alice Gardham marked TUBGCP4 as ready
Severe microcephaly TUBGCP4 Alice Gardham classified TUBGCP4 as green
Severe microcephaly TUBGCP4 Alice Gardham reviewed TUBGCP4
Severe microcephaly PLK4 Alice Gardham marked PLK4 as ready
Severe microcephaly PLK4 Alice Gardham classified PLK4 as green
Severe microcephaly PLK4 Alice Gardham reviewed PLK4
Severe microcephaly TUBGCP6 Alice Gardham marked TUBGCP6 as ready
Severe microcephaly TUBGCP6 Alice Gardham classified TUBGCP6 as green
Severe microcephaly TUBGCP6 Alice Gardham reviewed TUBGCP6
Severe microcephaly PQBP1 Alice Gardham marked PQBP1 as ready
Severe microcephaly PQBP1 Alice Gardham added PQBP1 to panel
Severe microcephaly PQBP1 Alice Gardham reviewed PQBP1
Severe microcephaly RNU4ATAC Alice Gardham marked RNU4ATAC as ready
Severe microcephaly RNU4ATAC Alice Gardham classified RNU4ATAC as green
Severe microcephaly RNU4ATAC Alice Gardham reviewed RNU4ATAC
Severe microcephaly EFTUD2 Alice Gardham marked EFTUD2 as ready
Severe microcephaly EFTUD2 Alice Gardham classified EFTUD2 as green
Severe microcephaly EFTUD2 Alice Gardham added EFTUD2 to panel
Severe microcephaly EFTUD2 Alice Gardham reviewed EFTUD2
Severe microcephaly IGF1R Alice Gardham marked IGF1R as ready
Severe microcephaly IGF1R Alice Gardham reviewed IGF1R
Severe microcephaly IGF1 Alice Gardham marked IGF1 as ready
Severe microcephaly IGF1 Alice Gardham reviewed IGF1
Severe microcephaly KIF11 Alice Gardham marked KIF11 as ready
Severe microcephaly KIF11 Alice Gardham classified KIF11 as green
Severe microcephaly KIF11 Alice Gardham commented on KIF11
Severe microcephaly GMNN Alice Gardham marked GMNN as ready
Severe microcephaly GMNN Alice Gardham classified GMNN as green
Severe microcephaly GMNN Alice Gardham reviewed GMNN
Severe microcephaly CDC6 Alice Gardham reviewed CDC6
Severe microcephaly CDT1 Alice Gardham marked CDT1 as ready
Severe microcephaly CDT1 Alice Gardham classified CDT1 as green
Severe microcephaly CDT1 Alice Gardham reviewed CDT1
Severe microcephaly ORC6 Alice Gardham marked ORC6 as ready
Severe microcephaly ORC6 Alice Gardham classified ORC6 as green
Severe microcephaly ORC6 Alice Gardham reviewed ORC6
Severe microcephaly ORC4 Alice Gardham marked ORC4 as ready
Severe microcephaly ORC4 Alice Gardham classified ORC4 as green
Severe microcephaly ORC4 Alice Gardham reviewed ORC4
Severe microcephaly ORC1 Alice Gardham marked ORC1 as ready
Severe microcephaly ORC1 Alice Gardham classified ORC1 as green
Severe microcephaly ORC1 Alice Gardham classified ORC1 as green
Severe microcephaly ORC1 Alice Gardham reviewed ORC1
Skeletal Muscle Channelopathies CNBP Arianna Tucci reviewed CNBP
Severe microcephaly CEP63 Alice Gardham classified CEP63 as green
Severe microcephaly CEP63 Alice Gardham reviewed CEP63
Skeletal Muscle Channelopathies KCNQ2 Arianna Tucci reviewed KCNQ2
Severe microcephaly RBBP8 Alice Gardham reviewed RBBP8
Skeletal Muscle Channelopathies ATP2A1 Arianna Tucci reviewed ATP2A1
Severe microcephaly ATRIP Alice Gardham marked ATRIP as ready
Severe microcephaly ATR Alice Gardham marked ATR as ready
Severe microcephaly ATR Alice Gardham classified ATR as green
Severe microcephaly ATR Alice Gardham reviewed ATR
Severe microcephaly CEP135 Alice Gardham marked CEP135 as ready
Severe microcephaly CEP135 Alice Gardham classified CEP135 as green
Severe microcephaly CEP135 Alice Gardham classified CEP135 as amber
Severe microcephaly CEP135 Alice Gardham reviewed CEP135
Arthrogryposis SMAD4 Alice Gardham added SMAD4 to panel
Arthrogryposis SMAD4 Alice Gardham reviewed SMAD4
Arthrogryposis ADAMTS10 Alice Gardham added ADAMTS10 to panel
Arthrogryposis ADAMTS10 Alice Gardham reviewed ADAMTS10
Arthrogryposis PEX26 Alice Gardham marked PEX26 as ready
Arthrogryposis PEX26 Alice Gardham added PEX26 to panel
Arthrogryposis PEX26 Alice Gardham reviewed PEX26
Arthrogryposis PEX19 Alice Gardham marked PEX19 as ready
Arthrogryposis PEX19 Alice Gardham added PEX19 to panel
Arthrogryposis PEX19 Alice Gardham reviewed PEX19
Arthrogryposis PEX16 Alice Gardham marked PEX16 as ready
Arthrogryposis PEX16 Alice Gardham added PEX16 to panel
Arthrogryposis PEX16 Alice Gardham reviewed PEX16
Arthrogryposis PEX14 Alice Gardham marked PEX14 as ready
Arthrogryposis PEX14 Alice Gardham added PEX14 to panel
Arthrogryposis PEX14 Alice Gardham reviewed PEX14
Arthrogryposis PEX13 Alice Gardham marked PEX13 as ready
Arthrogryposis PEX13 Alice Gardham added PEX13 to panel
Arthrogryposis PEX13 Alice Gardham reviewed PEX13
Arthrogryposis PEX12 Alice Gardham marked PEX12 as ready
Arthrogryposis PEX12 Alice Gardham added PEX12 to panel
Arthrogryposis PEX12 Alice Gardham reviewed PEX12
Arthrogryposis PEX11B Alice Gardham marked PEX11B as ready
Arthrogryposis PEX11B Alice Gardham classified PEX11B as green
Arthrogryposis PEX11B Alice Gardham added PEX11B to panel
Arthrogryposis PEX11B Alice Gardham reviewed PEX11B
Arthrogryposis PEX10 Alice Gardham marked PEX10 as ready
Arthrogryposis PEX10 Alice Gardham added PEX10 to panel
Arthrogryposis PEX10 Alice Gardham reviewed PEX10
Arthrogryposis PEX5 Alice Gardham marked PEX5 as ready
Arthrogryposis PEX5 Alice Gardham added PEX5 to panel
Arthrogryposis PEX5 Alice Gardham reviewed PEX5
Arthrogryposis PEX3 Alice Gardham marked PEX3 as ready
Arthrogryposis PEX6 Alice Gardham marked PEX6 as ready
Arthrogryposis PEX6 Alice Gardham added PEX6 to panel
Arthrogryposis PEX6 Alice Gardham reviewed PEX6
Arthrogryposis PEX3 Alice Gardham added PEX3 to panel
Arthrogryposis PEX3 Alice Gardham reviewed PEX3
Congenital muscular dystrophy FKRP Ellen McDonagh marked FKRP as ready
Congenital muscular dystrophy FKRP Ellen McDonagh commented on FKRP
Congenital muscular dystrophy DMD Ellen McDonagh marked DMD as ready
Congenital muscular dystrophy DMD Ellen McDonagh commented on DMD
Congenital muscular dystrophy COL6A3 Ellen McDonagh marked COL6A3 as ready
Congenital muscular dystrophy COL6A3 Ellen McDonagh commented on COL6A3
Congenital muscular dystrophy COL6A2 Ellen McDonagh marked COL6A2 as ready
Congenital muscular dystrophy COL6A2 Ellen McDonagh commented on COL6A2
Congenital muscular dystrophy COL6A1 Ellen McDonagh marked COL6A1 as ready
Congenital muscular dystrophy COL6A1 Ellen McDonagh commented on COL6A1
Congenital muscular dystrophy CHKB Ellen McDonagh marked CHKB as ready
Congenital muscular dystrophy CHKB Ellen McDonagh commented on CHKB
Arthrogryposis PEX2 Alice Gardham marked PEX2 as ready
Arthrogryposis PEX2 Alice Gardham added PEX2 to panel
Arthrogryposis PEX2 Alice Gardham reviewed PEX2
Arthrogryposis PEX1 Alice Gardham marked PEX1 as ready
Arthrogryposis PEX1 Alice Gardham added PEX1 to panel
Arthrogryposis PEX1 Alice Gardham reviewed PEX1
Arthrogryposis PLOD1 Alice Gardham marked PLOD1 as ready
Arthrogryposis PLOD1 Alice Gardham added PLOD1 to panel
Arthrogryposis PLOD1 Alice Gardham reviewed PLOD1
Arthrogryposis POR Alice Gardham marked POR as ready
Arthrogryposis POR Alice Gardham added POR to panel
Arthrogryposis POR Alice Gardham reviewed POR
Arthrogryposis SLC5A7 Alice Gardham marked SLC5A7 as ready
Arthrogryposis SLC5A7 Alice Gardham classified SLC5A7 as green
Arthrogryposis SLC5A7 Alice Gardham added SLC5A7 to panel
Arthrogryposis SLC5A7 Alice Gardham reviewed SLC5A7
Palmoplantar keratoderma and erythrokeratodermas KRT6B Rebecca Foulger marked KRT6B as ready
Palmoplantar keratoderma and erythrokeratodermas RSPO1 Rebecca Foulger classified RSPO1 as amber
Palmoplantar keratoderma and erythrokeratodermas RSPO1 Rebecca Foulger commented on RSPO1
Palmoplantar keratoderma and erythrokeratodermas RSPO1 Rebecca Foulger commented on RSPO1
Palmoplantar keratoderma and erythrokeratodermas RHBDF2 Rebecca Foulger classified RHBDF2 as amber
Palmoplantar keratoderma and erythrokeratodermas TAT Rebecca Foulger classified TAT as amber
Palmoplantar keratoderma and erythrokeratodermas SLURP1 Rebecca Foulger classified SLURP1 as amber
Brain channelopathy ADCY5 Arianna Tucci added ADCY5 to panel
Brain channelopathy ADCY5 Arianna Tucci reviewed ADCY5
Palmoplantar keratoderma and erythrokeratodermas JUP Rebecca Foulger classified JUP as amber
Palmoplantar keratoderma and erythrokeratodermas CARD14 Rebecca Foulger commented on CARD14
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci commented on KCNJ18
Skeletal Muscle Channelopathies SLC1A3 Arianna Tucci reviewed SLC1A3
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci commented on CACNB4
Palmoplantar keratoderma and erythrokeratodermas GJB4 Rebecca Foulger classified GJB4 as amber
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci commented on CACNA1A
Skeletal Muscle Channelopathies KCNA1 Arianna Tucci reviewed KCNA1
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger classified GJB3 as amber
Skeletal Muscle Channelopathies CACNB4 Arianna Tucci reviewed CACNB4
Palmoplantar keratoderma and erythrokeratodermas DSG2 Rebecca Foulger classified DSG2 as green
Palmoplantar keratoderma and erythrokeratodermas DSG2 Rebecca Foulger commented on DSG2
Palmoplantar keratoderma and erythrokeratodermas DES Rebecca Foulger classified DES as green
Palmoplantar keratoderma and erythrokeratodermas DES Rebecca Foulger classified DES as amber
Palmoplantar keratoderma and erythrokeratodermas DES Rebecca Foulger commented on DES
Palmoplantar keratoderma and erythrokeratodermas SERPINB7 Rebecca Foulger classified SERPINB7 as amber
Skeletal Muscle Channelopathies CACNA1A Arianna Tucci reviewed CACNA1A
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger classified GJA1 as amber
Skeletal Muscle Channelopathies KCNJ18 Arianna Tucci reviewed KCNJ18
Palmoplantar keratoderma and erythrokeratodermas ENPP1 Rebecca Foulger classified ENPP1 as amber
Palmoplantar keratoderma and erythrokeratodermas ENPP1 Rebecca Foulger commented on ENPP1
Palmoplantar keratoderma and erythrokeratodermas TRPV3 Rebecca Foulger commented on TRPV3
Skeletal Muscle Channelopathies SCN4A Arianna Tucci reviewed SCN4A
Palmoplantar keratoderma and erythrokeratodermas AQP5 Rebecca Foulger classified AQP5 as amber
Palmoplantar keratoderma and erythrokeratodermas AQP5 Rebecca Foulger commented on AQP5
Palmoplantar keratoderma and erythrokeratodermas AQP5 Rebecca Foulger commented on AQP5
Skeletal Muscle Channelopathies KCNJ2 Arianna Tucci reviewed KCNJ2
Palmoplantar keratoderma and erythrokeratodermas DSC2 Rebecca Foulger classified DSC2 as green
Palmoplantar keratoderma and erythrokeratodermas GJB2 Rebecca Foulger commented on GJB2
Palmoplantar keratoderma and erythrokeratodermas SNAP29 Rebecca Foulger marked SNAP29 as ready
Palmoplantar keratoderma and erythrokeratodermas SNAP29 Rebecca Foulger classified SNAP29 as green
Palmoplantar keratoderma and erythrokeratodermas SNAP29 Rebecca Foulger commented on SNAP29
Skeletal Muscle Channelopathies DMPK Arianna Tucci reviewed DMPK
Skeletal Muscle Channelopathies CLCN1 Arianna Tucci reviewed CLCN1
Skeletal Muscle Channelopathies CACNA1S Arianna Tucci reviewed CACNA1S
Undiagnosed metabolic disorders ADCK4 Sarah Leigh commented on ADCK4
Palmoplantar keratoderma and erythrokeratodermas TAT Rebecca Foulger commented on TAT
Palmoplantar keratoderma and erythrokeratodermas SLURP1 Rebecca Foulger commented on SLURP1
Palmoplantar keratoderma and erythrokeratodermas SERPINB7 Rebecca Foulger commented on SERPINB7
Palmoplantar keratoderma and erythrokeratodermas SERPINB7 Rebecca Foulger commented on SERPINB7
Palmoplantar keratoderma and erythrokeratodermas SERPINB7 Rebecca Foulger commented on SERPINB7
Palmoplantar keratoderma and erythrokeratodermas RSPO1 Rebecca Foulger commented on RSPO1
Palmoplantar keratoderma and erythrokeratodermas RHBDF2 Rebecca Foulger commented on RHBDF2
Palmoplantar keratoderma and erythrokeratodermas RHBDF2 Rebecca Foulger edited their review of RHBDF2
Palmoplantar keratoderma and erythrokeratodermas POMP Rebecca Foulger commented on POMP
Familial pulmonary fibrosis TERC Ellen McDonagh commented on TERC
Palmoplantar keratoderma and erythrokeratodermas KRT6C Rebecca Foulger classified KRT6C as green
Palmoplantar keratoderma and erythrokeratodermas KRT6C Rebecca Foulger commented on KRT6C
Hereditary spastic paraplegia SPG41 Ellen McDonagh commented on SPG41
Hereditary spastic paraplegia SPG38 Ellen McDonagh commented on SPG38
Palmoplantar keratoderma and erythrokeratodermas KRT6C Rebecca Foulger commented on KRT6C
Hereditary spastic paraplegia SPG37 Ellen McDonagh commented on SPG37
Palmoplantar keratoderma and erythrokeratodermas KRT6C Rebecca Foulger commented on KRT6C
Hereditary spastic paraplegia SPG36 Ellen McDonagh commented on SPG36
Hereditary spastic paraplegia SPG34 Ellen McDonagh commented on SPG34
Hereditary spastic paraplegia SPG32 Ellen McDonagh commented on SPG32
Hereditary spastic paraplegia SPG29 Ellen McDonagh commented on SPG29
Palmoplantar keratoderma and erythrokeratodermas KRT14 Rebecca Foulger commented on KRT14
Hereditary spastic paraplegia SPG27 Ellen McDonagh commented on SPG27
Hereditary spastic paraplegia SPG25 Ellen McDonagh commented on SPG25
Hereditary spastic paraplegia SPG24 Ellen McDonagh commented on SPG24
Hereditary spastic paraplegia SPG23 Ellen McDonagh commented on SPG23
Hereditary spastic paraplegia SPG19 Ellen McDonagh commented on SPG19
Hereditary spastic paraplegia SPG16 Ellen McDonagh commented on SPG16
Palmoplantar keratoderma and erythrokeratodermas KRT10 Rebecca Foulger commented on KRT10
Hereditary spastic paraplegia SPG14 Ellen McDonagh commented on SPG14
Palmoplantar keratoderma and erythrokeratodermas KRT10 Rebecca Foulger commented on KRT10
Arthrogryposis SCARF2 Alice Gardham marked SCARF2 as ready
Arthrogryposis SCARF2 Alice Gardham classified SCARF2 as green
Arthrogryposis SCARF2 Alice Gardham added SCARF2 to panel
Arthrogryposis SCARF2 Alice Gardham reviewed SCARF2
Arthrogryposis ASXL1 Alice Gardham marked ASXL1 as ready
Arthrogryposis ASXL1 Alice Gardham classified ASXL1 as green
Arthrogryposis ASXL1 Alice Gardham reviewed ASXL1
Arthrogryposis TMEM5 Alice Gardham classified TMEM5 as green
Arthrogryposis POMT2 Alice Gardham classified POMT2 as green
Arthrogryposis POMT1 Alice Gardham classified POMT1 as green
Arthrogryposis POMK Alice Gardham classified POMK as green
Arthrogryposis POMGNT2 Alice Gardham classified POMGNT2 as green
Arthrogryposis POMGNT1 Alice Gardham classified POMGNT1 as green
Arthrogryposis LARGE Alice Gardham classified LARGE as green
Arthrogryposis ISPD Alice Gardham classified ISPD as green
Arthrogryposis GMPPB Alice Gardham classified GMPPB as green
Arthrogryposis FKTN Alice Gardham classified FKTN as green
Arthrogryposis FKRP Alice Gardham classified FKRP as green
Arthrogryposis FKRP Alice Gardham classified FKRP as amber
Arthrogryposis DAG1 Alice Gardham classified DAG1 as green
Arthrogryposis B4GAT1 Alice Gardham classified B4GAT1 as green
Arthrogryposis B3GALNT2 Alice Gardham classified B3GALNT2 as green
Arthrogryposis FLNB Alice Gardham classified FLNB as green
Palmoplantar keratoderma and erythrokeratodermas JUP Rebecca Foulger commented on JUP
Arthrogryposis KLHL7 Alice Gardham marked KLHL7 as ready
Arthrogryposis KLHL7 Alice Gardham classified KLHL7 as green
Palmoplantar keratoderma and erythrokeratodermas JUP Rebecca Foulger commented on JUP
Palmoplantar keratoderma and erythrokeratodermas GJB6 Rebecca Foulger commented on GJB6
Arthrogryposis MYH7 Alice Gardham marked MYH7 as ready
Palmoplantar keratoderma and erythrokeratodermas KRT1 Rebecca Foulger classified KRT1 as green
Palmoplantar keratoderma and erythrokeratodermas KRT1 Rebecca Foulger edited their review of KRT1
Palmoplantar keratoderma and erythrokeratodermas KRT1 Rebecca Foulger commented on KRT1
Palmoplantar keratoderma and erythrokeratodermas KRT6B Rebecca Foulger classified KRT6B as green
Arthrogryposis DMPK Alice Gardham marked DMPK as ready
Arthrogryposis DMPK Alice Gardham classified DMPK as red
Arthrogryposis DMPK Alice Gardham added DMPK to panel
Arthrogryposis DMPK Alice Gardham reviewed DMPK
Palmoplantar keratoderma and erythrokeratodermas GJB2 Rebecca Foulger commented on GJB2
Palmoplantar keratoderma and erythrokeratodermas GJB2 Rebecca Foulger edited their review of GJB2
Palmoplantar keratoderma and erythrokeratodermas GJB2 Rebecca Foulger classified GJB2 as green
Palmoplantar keratoderma and erythrokeratodermas GJB2 Rebecca Foulger commented on GJB2
Palmoplantar keratoderma and erythrokeratodermas GJB4 Rebecca Foulger edited their review of GJB4
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger commented on GJB3
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger commented on GJB3
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger commented on GJB3
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger commented on GJB3
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger commented on GJA1
Arthrogryposis PEX7 Alice Gardham marked PEX7 as ready
Arthrogryposis PEX7 Alice Gardham added PEX7 to panel
Arthrogryposis PEX7 Alice Gardham reviewed PEX7
Arthrogryposis KAT6B Alice Gardham marked KAT6B as ready
Arthrogryposis KAT6B Alice Gardham added KAT6B to panel
Arthrogryposis KAT6B Alice Gardham reviewed KAT6B
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger commented on GJA1
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger commented on GJA1
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger edited their review of GJA1
Palmoplantar keratoderma and erythrokeratodermas ENPP1 Rebecca Foulger commented on ENPP1
Palmoplantar keratoderma and erythrokeratodermas AQP5 Rebecca Foulger commented on AQP5
Palmoplantar keratoderma and erythrokeratodermas ALOXE3 Rebecca Foulger commented on ALOXE3
Palmoplantar keratoderma and erythrokeratodermas ALOX12B Rebecca Foulger commented on ALOX12B
Palmoplantar keratoderma and erythrokeratodermas TRPV3 Rebecca Foulger commented on TRPV3
Palmoplantar keratoderma and erythrokeratodermas TRPV3 Rebecca Foulger commented on TRPV3
Palmoplantar keratoderma and erythrokeratodermas TRPV3 Rebecca Foulger edited their review of TRPV3
Palmoplantar keratoderma and erythrokeratodermas TRPV3 Rebecca Foulger commented on TRPV3
Kleine-Levin syndrome TRPV4 Rosa Peraita-Adrados edited their review of TRPV4
Brain channelopathy KCNK18 Arianna Tucci reviewed KCNK18
Brain channelopathy SLC2A1 Arianna Tucci reviewed SLC2A1
Skeletal dysplasia RNU4ATAC Ellen McDonagh commented on RNU4ATAC
Severe microcephaly RNU4ATAC Ellen McDonagh commented on RNU4ATAC
IUGR and IGF abnormalities RNU4ATAC Ellen McDonagh commented on RNU4ATAC
Skeletal dysplasia RMRP Ellen McDonagh commented on RMRP
Ectodermal dysplasia without a known gene mutation RMRP Ellen McDonagh commented on RMRP
Optic neuropathy OPA8 Ellen McDonagh commented on OPA8
Optic neuropathy OPA6 Ellen McDonagh commented on OPA6
Optic neuropathy OPA5 Ellen McDonagh commented on OPA5
Optic neuropathy OPA4 Ellen McDonagh commented on OPA4
Optic neuropathy OPA2 Ellen McDonagh commented on OPA2
Intellectual disability NXF4 Ellen McDonagh commented on NXF4
Cerebral vascular malformations MYMY3 Ellen McDonagh commented on MYMY3
Cerebral vascular malformations MYMY1 Ellen McDonagh commented on MYMY1
Undiagnosed metabolic disorders MT-TA Ellen McDonagh commented on MT-TA
Mitochondrial disorders MT-TA Ellen McDonagh edited their review of MT-TA
Mitochondrial disorders MT-RNR2 Ellen McDonagh edited their review of MT-RNR2
Undiagnosed metabolic disorders MT-RNR1 Ellen McDonagh commented on MT-RNR1
Mitochondrial disorders MT-RNR1 Ellen McDonagh edited their review of MT-RNR1
Monogenic hearing loss MT-RNR1 Ellen McDonagh commented on MT-RNR1
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Monogenic hearing loss MIR96 Ellen McDonagh commented on MIR96
Ocular coloboma MIR204 Ellen McDonagh commented on MIR204
Bilateral congenital or childhood onset cataracts MIR184 Ellen McDonagh edited their review of MIR184
Monogenic hearing loss MIR183 Ellen McDonagh commented on MIR183
Skeletal dysplasia MIR17HG Ellen McDonagh commented on MIR17HG
Intellectual disability MIR17HG Ellen McDonagh commented on MIR17HG
VACTERL-like phenotypes MIR17HG Ellen McDonagh commented on MIR17HG
Paediatric motor neuronopathies MEG3 Ellen McDonagh commented on MEG3
Brain channelopathy PNKD Arianna Tucci reviewed PNKD
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders KCNQ1OT1 Ellen McDonagh commented on KCNQ1OT1
Childhood solid tumours KCNQ1OT1 Ellen McDonagh commented on KCNQ1OT1
Familial Neural Tube Defects HPE1 Ellen McDonagh commented on HPE1
Silver Russell syndrome H19 Ellen McDonagh commented on H19
Childhood solid tumours H19 Ellen McDonagh commented on H19
IUGR and IGF abnormalities H19 Ellen McDonagh commented on H19
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders H19 Ellen McDonagh commented on H19
Monogenic hearing loss GJA1P1 Ellen McDonagh commented on GJA1P1
Clefting FSHMD1A Ellen McDonagh edited their review of FSHMD1A
Brain channelopathy PRRT2 Arianna Tucci reviewed PRRT2
Retinal disorders EVR3 Ellen McDonagh commented on EVR3
Deafness and congenital structural abnormalities DWS Ellen McDonagh commented on DWS
Bilateral congenital or childhood onset cataracts CRYGFP Ellen McDonagh commented on CRYGFP
Rare multisystem ciliopathy disorders ATD Ellen McDonagh commented on ATD
Cerebral vascular malformations ANIB1 Ellen McDonagh commented on ANIB1
Congenital muscular dystrophy B4GAT1 Ellen McDonagh classified B4GAT1 as amber
Brain channelopathy ATP1A3 Arianna Tucci reviewed ATP1A3
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders VKORC1 Sarah Leigh commented on VKORC1
Undiagnosed metabolic disorders VIPAS39 Sarah Leigh edited their review of VIPAS39
Undiagnosed metabolic disorders VIPAS39 Sarah Leigh edited their review of VIPAS39
Undiagnosed metabolic disorders UROC1 Sarah Leigh commented on UROC1
Undiagnosed metabolic disorders UMPS Sarah Leigh commented on UMPS
Undiagnosed metabolic disorders UMOD Sarah Leigh edited their review of UMOD
Undiagnosed metabolic disorders UMOD Sarah Leigh edited their review of UMOD
Undiagnosed metabolic disorders TTPA Sarah Leigh commented on TTPA
Undiagnosed metabolic disorders TTC37 Sarah Leigh commented on TTC37
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders TPP1 Sarah Leigh edited their review of TPP1
Undiagnosed metabolic disorders TPP1 Sarah Leigh edited their review of TPP1
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TAT Sarah Leigh commented on TAT
Undiagnosed metabolic disorders TALDO1 Sarah Leigh commented on TALDO1
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders STS Sarah Leigh commented on STS
Undiagnosed metabolic disorders ST3GAL3 Sarah Leigh commented on ST3GAL3
Undiagnosed metabolic disorders SPTLC2 Sarah Leigh edited their review of SPTLC2
Undiagnosed metabolic disorders SPTLC2 Sarah Leigh edited their review of SPTLC2
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders SMPD1 Sarah Leigh edited their review of SMPD1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders SMPD1 Sarah Leigh edited their review of SMPD1
Undiagnosed metabolic disorders WFS1 Sarah Leigh reviewed WFS1
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders SLC7A9 Sarah Leigh commented on SLC7A9
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders SLC6A8 Sarah Leigh commented on SLC6A8
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders WDR45 Sarah Leigh reviewed WDR45
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders SLC3A1 Sarah Leigh commented on SLC3A1
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders SLC35A2 Sarah Leigh commented on SLC35A2
Undiagnosed metabolic disorders VPS33B Sarah Leigh reviewed VPS33B
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh edited their review of SLC30A10
Undiagnosed metabolic disorders VKORC1 Sarah Leigh reviewed VKORC1
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh edited their review of SLC30A10
Undiagnosed metabolic disorders VIPAS39 Sarah Leigh edited their review of VIPAS39
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders VIPAS39 Sarah Leigh reviewed VIPAS39
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders UROC1 Sarah Leigh reviewed UROC1
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders UMPS Sarah Leigh reviewed UMPS
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders UMOD Sarah Leigh edited their review of UMOD
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders UMOD Sarah Leigh reviewed UMOD
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders TTPA Sarah Leigh reviewed TTPA
Undiagnosed metabolic disorders SLC25A12 Sarah Leigh commented on SLC25A12
Undiagnosed metabolic disorders TTC37 Sarah Leigh reviewed TTC37
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders TREX1 Sarah Leigh reviewed TREX1
Undiagnosed metabolic disorders SLC12A3 Sarah Leigh commented on SLC12A3
Undiagnosed metabolic disorders TPP1 Sarah Leigh edited their review of TPP1
Undiagnosed metabolic disorders SKIV2L Sarah Leigh commented on SKIV2L
Undiagnosed metabolic disorders TPP1 Sarah Leigh reviewed TPP1
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders TH Sarah Leigh reviewed TH
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders TCN2 Sarah Leigh reviewed TCN2
Undiagnosed metabolic disorders SC5D Sarah Leigh edited their review of SC5D
Undiagnosed metabolic disorders TAT Sarah Leigh reviewed TAT
Undiagnosed metabolic disorders SC5D Sarah Leigh edited their review of SC5D
Undiagnosed metabolic disorders TALDO1 Sarah Leigh reviewed TALDO1
Undiagnosed metabolic disorders RNASET2 Sarah Leigh edited their review of RNASET2
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders RNASET2 Sarah Leigh edited their review of RNASET2
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders SUMF1 Sarah Leigh reviewed SUMF1
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders STS Sarah Leigh reviewed STS
Undiagnosed metabolic disorders ST3GAL3 Sarah Leigh reviewed ST3GAL3
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders SPTLC2 Sarah Leigh edited their review of SPTLC2
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders SPTLC2 Sarah Leigh reviewed SPTLC2
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh reviewed SPTLC1
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders SPR Sarah Leigh reviewed SPR
Undiagnosed metabolic disorders RBP4 Sarah Leigh commented on RBP4
Undiagnosed metabolic disorders SMPD1 Sarah Leigh edited their review of SMPD1
Undiagnosed metabolic disorders QDPR Sarah Leigh commented on QDPR
Undiagnosed metabolic disorders SMPD1 Sarah Leigh reviewed SMPD1
Undiagnosed metabolic disorders PTS Sarah Leigh commented on PTS
Undiagnosed metabolic disorders SLC7A9 Sarah Leigh reviewed SLC7A9
Undiagnosed metabolic disorders PSPH Sarah Leigh edited their review of PSPH
Undiagnosed metabolic disorders SLC6A8 Sarah Leigh reviewed SLC6A8
Undiagnosed metabolic disorders PSPH Sarah Leigh edited their review of PSPH
Undiagnosed metabolic disorders PSAT1 Sarah Leigh commented on PSAT1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh reviewed SLC6A3
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders SLC3A1 Sarah Leigh reviewed SLC3A1
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh edited their review of PRKAG2
Undiagnosed metabolic disorders SLC35A2 Sarah Leigh reviewed SLC35A2
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh edited their review of PRKAG2
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh edited their review of SLC30A10
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh reviewed SLC30A10
Undiagnosed metabolic disorders PPT1 Sarah Leigh commented on PPT1
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders PNP Sarah Leigh commented on PNP
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh reviewed SLC2A1
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders SLC25A12 Sarah Leigh reviewed SLC25A12
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders PINK1 Sarah Leigh edited their review of PINK1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders PINK1 Sarah Leigh edited their review of PINK1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders PHKA1 Sarah Leigh commented on PHKA1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders PHGDH Sarah Leigh edited their review of PHGDH
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh reviewed SLC17A5
Undiagnosed metabolic disorders PHGDH Sarah Leigh edited their review of PHGDH
Undiagnosed metabolic disorders SLC12A3 Sarah Leigh reviewed SLC12A3
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders SKIV2L Sarah Leigh reviewed SKIV2L
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders PGAM2 Sarah Leigh commented on PGAM2
Undiagnosed metabolic disorders PFKM Sarah Leigh edited their review of PFKM
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders PFKM Sarah Leigh edited their review of PFKM
Undiagnosed metabolic disorders SETX Sarah Leigh reviewed SETX
Undiagnosed metabolic disorders PEPD Sarah Leigh commented on PEPD
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders PCSK9 Sarah Leigh commented on PCSK9
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders SDHC Sarah Leigh reviewed SDHC
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders PAH Sarah Leigh commented on PAH
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh reviewed SDHAF2
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders SC5D Sarah Leigh edited their review of SC5D
Undiagnosed metabolic disorders SC5D Sarah Leigh reviewed SC5D
Undiagnosed metabolic disorders RNASET2 Sarah Leigh edited their review of RNASET2
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders RNASET2 Sarah Leigh reviewed RNASET2
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh reviewed RNASEH2C
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NAGA Sarah Leigh commented on NAGA
Brain channelopathy SCN1A Arianna Tucci reviewed SCN1A
Undiagnosed metabolic disorders MVK Sarah Leigh commented on MVK
Undiagnosed metabolic disorders MTRR Sarah Leigh commented on MTRR
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders MTR Sarah Leigh commented on MTR
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders MTFMT Sarah Leigh commented on MTFMT
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh reviewed RNASEH2B
Undiagnosed metabolic disorders MOCS2 Sarah Leigh commented on MOCS2
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders MOCS1 Sarah Leigh commented on MOCS1
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders MMADHC Sarah Leigh commented on MMADHC
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh reviewed RNASEH2A
Undiagnosed metabolic disorders MMACHC Sarah Leigh edited their review of MMACHC
Undiagnosed metabolic disorders RBP4 Sarah Leigh reviewed RBP4
Undiagnosed metabolic disorders MMACHC Sarah Leigh edited their review of MMACHC
Undiagnosed metabolic disorders QDPR Sarah Leigh reviewed QDPR
Undiagnosed metabolic disorders MFSD8 Sarah Leigh commented on MFSD8
Undiagnosed metabolic disorders PTS Sarah Leigh reviewed PTS
Undiagnosed metabolic disorders MCCC2 Sarah Leigh commented on MCCC2
Undiagnosed metabolic disorders PSPH Sarah Leigh edited their review of PSPH
Undiagnosed metabolic disorders MCCC1 Sarah Leigh commented on MCCC1
Undiagnosed metabolic disorders PSPH Sarah Leigh reviewed PSPH
Undiagnosed metabolic disorders MAT1A Sarah Leigh commented on MAT1A
Undiagnosed metabolic disorders PSAT1 Sarah Leigh reviewed PSAT1
Undiagnosed metabolic disorders MAOA Sarah Leigh edited their review of MAOA
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders MAOA Sarah Leigh edited their review of MAOA
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders MANBA Sarah Leigh commented on MANBA
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh reviewed PRPS1
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh edited their review of PRKAG2
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh reviewed PRKAG2
Undiagnosed metabolic disorders MAGT1 Sarah Leigh commented on MAGT1
Undiagnosed metabolic disorders PPT1 Sarah Leigh reviewed PPT1
Undiagnosed metabolic disorders LPIN1 Sarah Leigh commented on LPIN1
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders LIPA Sarah Leigh commented on LIPA
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders LDLRAP1 Sarah Leigh commented on LDLRAP1
Undiagnosed metabolic disorders POR Sarah Leigh reviewed POR
Undiagnosed metabolic disorders LDLR Sarah Leigh commented on LDLR
Undiagnosed metabolic disorders PNP Sarah Leigh reviewed PNP
Undiagnosed metabolic disorders LBR Sarah Leigh edited their review of LBR
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders LBR Sarah Leigh edited their review of LBR
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh reviewed PLA2G6
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders PINK1 Sarah Leigh edited their review of PINK1
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders PINK1 Sarah Leigh reviewed PINK1
Undiagnosed metabolic disorders L2HGDH Sarah Leigh edited their review of L2HGDH
Undiagnosed metabolic disorders PHKA1 Sarah Leigh reviewed PHKA1
Undiagnosed metabolic disorders L2HGDH Sarah Leigh edited their review of L2HGDH
Undiagnosed metabolic disorders PHGDH Sarah Leigh edited their review of PHGDH
Undiagnosed metabolic disorders ISCU Sarah Leigh commented on ISCU
Undiagnosed metabolic disorders PHGDH Sarah Leigh reviewed PHGDH
Undiagnosed metabolic disorders HSD17B10 Sarah Leigh edited their review of HSD17B10
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders HSD17B10 Sarah Leigh edited their review of HSD17B10
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders HPS1 Sarah Leigh edited their review of HPS1
Undiagnosed metabolic disorders PGK1 Sarah Leigh reviewed PGK1
Undiagnosed metabolic disorders HPS1 Sarah Leigh edited their review of HPS1
Undiagnosed metabolic disorders PGAM2 Sarah Leigh reviewed PGAM2
Undiagnosed metabolic disorders HPRT1 Sarah Leigh edited their review of HPRT1
Undiagnosed metabolic disorders PFKM Sarah Leigh edited their review of PFKM
Undiagnosed metabolic disorders HPRT1 Sarah Leigh edited their review of HPRT1
Undiagnosed metabolic disorders PFKM Sarah Leigh reviewed PFKM
Undiagnosed metabolic disorders HPD Sarah Leigh commented on HPD
Undiagnosed metabolic disorders PEPD Sarah Leigh reviewed PEPD
Undiagnosed metabolic disorders HEXB Sarah Leigh edited their review of HEXB
Undiagnosed metabolic disorders PCSK9 Sarah Leigh reviewed PCSK9
Undiagnosed metabolic disorders HEXB Sarah Leigh edited their review of HEXB
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders HEXA Sarah Leigh edited their review of HEXA
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders HEXA Sarah Leigh edited their review of HEXA
Undiagnosed metabolic disorders PANK2 Sarah Leigh reviewed PANK2
Undiagnosed metabolic disorders HADH Sarah Leigh edited their review of HADH
Undiagnosed metabolic disorders PAH Sarah Leigh reviewed PAH
Undiagnosed metabolic disorders HADH Sarah Leigh edited their review of HADH
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders GYS1 Sarah Leigh commented on GYS1
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders GYG1 Sarah Leigh commented on GYG1
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders GM2A Sarah Leigh commented on GM2A
Undiagnosed metabolic disorders OCRL Sarah Leigh reviewed OCRL
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders GLUL Sarah Leigh commented on GLUL
Undiagnosed metabolic disorders NPC2 Sarah Leigh reviewed NPC2
Undiagnosed metabolic disorders GLDC Sarah Leigh commented on GLDC
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh reviewed NPC1
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders NAGA Sarah Leigh reviewed NAGA
Undiagnosed metabolic disorders MVK Sarah Leigh reviewed MVK
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders MTRR Sarah Leigh reviewed MTRR
Undiagnosed metabolic disorders MTR Sarah Leigh reviewed MTR
Undiagnosed metabolic disorders MTFMT Sarah Leigh reviewed MTFMT
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders MOCS2 Sarah Leigh reviewed MOCS2
Undiagnosed metabolic disorders MOCS1 Sarah Leigh reviewed MOCS1
Undiagnosed metabolic disorders MMADHC Sarah Leigh reviewed MMADHC
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders MMACHC Sarah Leigh edited their review of MMACHC
Undiagnosed metabolic disorders MMACHC Sarah Leigh reviewed MMACHC
Undiagnosed metabolic disorders MFSD8 Sarah Leigh reviewed MFSD8
Undiagnosed metabolic disorders MCCC2 Sarah Leigh reviewed MCCC2
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders MCCC1 Sarah Leigh reviewed MCCC1
Undiagnosed metabolic disorders MAT1A Sarah Leigh reviewed MAT1A
Undiagnosed metabolic disorders GCDH Sarah Leigh commented on GCDH
Undiagnosed metabolic disorders MAOA Sarah Leigh edited their review of MAOA
Undiagnosed metabolic disorders GAMT Sarah Leigh commented on GAMT
Undiagnosed metabolic disorders MAOA Sarah Leigh reviewed MAOA
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders MANBA Sarah Leigh reviewed MANBA
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders GALK1 Sarah Leigh commented on GALK1
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders GALE Sarah Leigh commented on GALE
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh reviewed MAN2B1
Undiagnosed metabolic disorders GALC Sarah Leigh edited their review of GALC
Undiagnosed metabolic disorders MAGT1 Sarah Leigh reviewed MAGT1
Undiagnosed metabolic disorders GALC Sarah Leigh edited their review of GALC
Undiagnosed metabolic disorders LPIN1 Sarah Leigh reviewed LPIN1
Undiagnosed metabolic disorders GAA Sarah Leigh edited their review of GAA
Undiagnosed metabolic disorders LIPA Sarah Leigh reviewed LIPA
Undiagnosed metabolic disorders GAA Sarah Leigh edited their review of GAA
Undiagnosed metabolic disorders LDLRAP1 Sarah Leigh reviewed LDLRAP1
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders LDLR Sarah Leigh reviewed LDLR
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders LBR Sarah Leigh edited their review of LBR
Undiagnosed metabolic disorders FXN Sarah Leigh commented on FXN
Undiagnosed metabolic disorders LBR Sarah Leigh reviewed LBR
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders FTCD Sarah Leigh commented on FTCD
Undiagnosed metabolic disorders LAMP2 Sarah Leigh reviewed LAMP2
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders L2HGDH Sarah Leigh edited their review of L2HGDH
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders L2HGDH Sarah Leigh reviewed L2HGDH
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders ISCU Sarah Leigh reviewed ISCU
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders HSD17B10 Sarah Leigh edited their review of HSD17B10
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders HSD17B10 Sarah Leigh reviewed HSD17B10
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders HPS1 Sarah Leigh edited their review of HPS1
Undiagnosed metabolic disorders FECH Sarah Leigh commented on FECH
Undiagnosed metabolic disorders HPS1 Sarah Leigh reviewed HPS1
Undiagnosed metabolic disorders FA2H Sarah Leigh edited their review of FA2H
Undiagnosed metabolic disorders HPRT1 Sarah Leigh edited their review of HPRT1
Undiagnosed metabolic disorders FA2H Sarah Leigh edited their review of FA2H
Undiagnosed metabolic disorders HPRT1 Sarah Leigh reviewed HPRT1
Undiagnosed metabolic disorders ENO3 Sarah Leigh commented on ENO3
Undiagnosed metabolic disorders HPD Sarah Leigh reviewed HPD
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders HEXB Sarah Leigh edited their review of HEXB
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders HEXB Sarah Leigh reviewed HEXB
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders HEXA Sarah Leigh edited their review of HEXA
Undiagnosed metabolic disorders DHDDS Sarah Leigh commented on DHDDS
Undiagnosed metabolic disorders HEXA Sarah Leigh reviewed HEXA
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders HADH Sarah Leigh edited their review of HADH
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders HADH Sarah Leigh reviewed HADH
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders GYS1 Sarah Leigh reviewed GYS1
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders GYG1 Sarah Leigh reviewed GYG1
Undiagnosed metabolic disorders DHCR24 Sarah Leigh edited their review of DHCR24
Undiagnosed metabolic disorders GM2A Sarah Leigh reviewed GM2A
Undiagnosed metabolic disorders DHCR24 Sarah Leigh edited their review of DHCR24
Undiagnosed metabolic disorders GLUL Sarah Leigh reviewed GLUL
Undiagnosed metabolic disorders DDC Sarah Leigh commented on DDC
Undiagnosed metabolic disorders GLDC Sarah Leigh reviewed GLDC
Undiagnosed metabolic disorders D2HGDH Sarah Leigh commented on D2HGDH
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders CYP7B1 Sarah Leigh commented on CYP7B1
Undiagnosed metabolic disorders GK Sarah Leigh reviewed GK
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders GCH1 Sarah Leigh reviewed GCH1
Undiagnosed metabolic disorders CUBN Sarah Leigh edited their review of CUBN
Undiagnosed metabolic disorders GCDH Sarah Leigh reviewed GCDH
Undiagnosed metabolic disorders CUBN Sarah Leigh edited their review of CUBN
Undiagnosed metabolic disorders GAMT Sarah Leigh reviewed GAMT
Undiagnosed metabolic disorders CTSK Sarah Leigh edited their review of CTSK
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders CTSK Sarah Leigh edited their review of CTSK
Undiagnosed metabolic disorders GALT Sarah Leigh reviewed GALT
Undiagnosed metabolic disorders CTSD Sarah Leigh commented on CTSD
Undiagnosed metabolic disorders GALK1 Sarah Leigh reviewed GALK1
Undiagnosed metabolic disorders CTSC Sarah Leigh commented on CTSC
Undiagnosed metabolic disorders GALE Sarah Leigh reviewed GALE
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders GALC Sarah Leigh edited their review of GALC
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders GALC Sarah Leigh reviewed GALC
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders GAA Sarah Leigh edited their review of GAA
Undiagnosed metabolic disorders CSTB Sarah Leigh commented on CSTB
Undiagnosed metabolic disorders GAA Sarah Leigh reviewed GAA
Undiagnosed metabolic disorders CP Sarah Leigh edited their review of CP
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders CP Sarah Leigh edited their review of CP
Undiagnosed metabolic disorders G6PC3 Sarah Leigh reviewed G6PC3
Undiagnosed metabolic disorders CLN8 Sarah Leigh commented on CLN8
Undiagnosed metabolic disorders FXN Sarah Leigh reviewed FXN
Undiagnosed metabolic disorders CLN6 Sarah Leigh edited their review of CLN6
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders CLN6 Sarah Leigh edited their review of CLN6
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders CLN5 Sarah Leigh commented on CLN5
Undiagnosed metabolic disorders FUCA1 Sarah Leigh reviewed FUCA1
Undiagnosed metabolic disorders CLN3 Sarah Leigh edited their review of CLN3
Undiagnosed metabolic disorders FTCD Sarah Leigh reviewed FTCD
Undiagnosed metabolic disorders CLN3 Sarah Leigh edited their review of CLN3
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CLDN19 Sarah Leigh commented on CLDN19
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CLDN16 Sarah Leigh commented on CLDN16
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CISD2 Sarah Leigh edited their review of CISD2
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CISD2 Sarah Leigh edited their review of CISD2
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CBS Sarah Leigh commented on CBS
Undiagnosed metabolic disorders FGFR2 Sarah Leigh reviewed FGFR2
Undiagnosed metabolic disorders ATP7B Sarah Leigh commented on ATP7B
Undiagnosed metabolic disorders FECH Sarah Leigh reviewed FECH
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders FA2H Sarah Leigh edited their review of FA2H
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders FA2H Sarah Leigh reviewed FA2H
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders ENO3 Sarah Leigh reviewed ENO3
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders DHODH Sarah Leigh reviewed DHODH
Undiagnosed metabolic disorders DHDDS Sarah Leigh reviewed DHDDS
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders DHCR7 Sarah Leigh reviewed DHCR7
Undiagnosed metabolic disorders DHCR24 Sarah Leigh edited their review of DHCR24
Undiagnosed metabolic disorders DHCR24 Sarah Leigh reviewed DHCR24
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders DDC Sarah Leigh reviewed DDC
Undiagnosed metabolic disorders D2HGDH Sarah Leigh reviewed D2HGDH
Undiagnosed metabolic disorders CYP7B1 Sarah Leigh reviewed CYP7B1
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders ATIC Sarah Leigh commented on ATIC
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh reviewed CYP27A1
Undiagnosed metabolic disorders CUBN Sarah Leigh edited their review of CUBN
Undiagnosed metabolic disorders CUBN Sarah Leigh reviewed CUBN
Undiagnosed metabolic disorders CTSK Sarah Leigh edited their review of CTSK
Undiagnosed metabolic disorders CTSK Sarah Leigh reviewed CTSK
Undiagnosed metabolic disorders CTSD Sarah Leigh reviewed CTSD
Undiagnosed metabolic disorders ASPA Sarah Leigh edited their review of ASPA
Undiagnosed metabolic disorders CTSC Sarah Leigh reviewed CTSC
Undiagnosed metabolic disorders ASPA Sarah Leigh edited their review of ASPA
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders CTSA Sarah Leigh reviewed CTSA
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders CSTB Sarah Leigh reviewed CSTB
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders CP Sarah Leigh edited their review of CP
Undiagnosed metabolic disorders APOB Sarah Leigh commented on APOB
Undiagnosed metabolic disorders CP Sarah Leigh reviewed CP
Undiagnosed metabolic disorders AMT Sarah Leigh commented on AMT
Undiagnosed metabolic disorders CLN8 Sarah Leigh reviewed CLN8
Undiagnosed metabolic disorders AMN Sarah Leigh edited their review of AMN
Undiagnosed metabolic disorders CLN6 Sarah Leigh edited their review of CLN6
Undiagnosed metabolic disorders AMN Sarah Leigh edited their review of AMN
Undiagnosed metabolic disorders CLN6 Sarah Leigh reviewed CLN6
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders CLN5 Sarah Leigh reviewed CLN5
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders CLN3 Sarah Leigh edited their review of CLN3
Undiagnosed metabolic disorders CLN3 Sarah Leigh reviewed CLN3
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders CLDN19 Sarah Leigh reviewed CLDN19
Undiagnosed metabolic disorders ALG13 Sarah Leigh edited their review of ALG13
Undiagnosed metabolic disorders CLDN16 Sarah Leigh reviewed CLDN16
Undiagnosed metabolic disorders ALG13 Sarah Leigh edited their review of ALG13
Undiagnosed metabolic disorders CISD2 Sarah Leigh edited their review of CISD2
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh commented on ALDH7A1
Undiagnosed metabolic disorders CISD2 Sarah Leigh reviewed CISD2
Undiagnosed metabolic disorders ALDH5A1 Sarah Leigh commented on ALDH5A1
Undiagnosed metabolic disorders CBS Sarah Leigh reviewed CBS
Undiagnosed metabolic disorders ALDH4A1 Sarah Leigh commented on ALDH4A1
Undiagnosed metabolic disorders ATP7B Sarah Leigh reviewed ATP7B
Undiagnosed metabolic disorders ALDH3A2 Sarah Leigh edited their review of ALDH3A2
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders ALDH3A2 Sarah Leigh edited their review of ALDH3A2
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders ALAS2 Sarah Leigh commented on ALAS2
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders ATP7A Sarah Leigh reviewed ATP7A
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders ADSL Sarah Leigh edited their review of ADSL
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh reviewed ATP13A2
Undiagnosed metabolic disorders ADSL Sarah Leigh edited their review of ADSL
Undiagnosed metabolic disorders ATIC Sarah Leigh reviewed ATIC
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ASPA Sarah Leigh edited their review of ASPA
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ASPA Sarah Leigh reviewed ASPA
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ASAH1 Sarah Leigh reviewed ASAH1
Undiagnosed metabolic disorders ACY1 Sarah Leigh commented on ACY1
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ABCG8 Sarah Leigh commented on ABCG8
Brain channelopathy ATP1A2 Arianna Tucci reviewed ATP1A2
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders ABCG5 Sarah Leigh commented on ABCG5
Undiagnosed metabolic disorders ARSA Sarah Leigh reviewed ARSA
Undiagnosed metabolic disorders ABCD4 Sarah Leigh commented on ABCD4
Undiagnosed metabolic disorders APOB Sarah Leigh reviewed APOB
Undiagnosed metabolic disorders AASS Sarah Leigh commented on AASS
Undiagnosed metabolic disorders AMT Sarah Leigh reviewed AMT
Undiagnosed metabolic disorders AMN Sarah Leigh edited their review of AMN
Undiagnosed metabolic disorders AMN Sarah Leigh reviewed AMN
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh reviewed ALPL
Undiagnosed metabolic disorders ALG13 Sarah Leigh edited their review of ALG13
Undiagnosed metabolic disorders ALG13 Sarah Leigh reviewed ALG13
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh reviewed ALDH7A1
Undiagnosed metabolic disorders ALDH5A1 Sarah Leigh reviewed ALDH5A1
Undiagnosed metabolic disorders ALDH4A1 Sarah Leigh reviewed ALDH4A1
Undiagnosed metabolic disorders ALDH3A2 Sarah Leigh edited their review of ALDH3A2
Undiagnosed metabolic disorders ALDH3A2 Sarah Leigh reviewed ALDH3A2
Undiagnosed metabolic disorders ALAS2 Sarah Leigh reviewed ALAS2
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh reviewed AGA
Undiagnosed metabolic disorders ADSL Sarah Leigh edited their review of ADSL
Undiagnosed metabolic disorders ADSL Sarah Leigh reviewed ADSL
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADAR Sarah Leigh reviewed ADAR
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh reviewed ADA
Undiagnosed metabolic disorders ACY1 Sarah Leigh reviewed ACY1
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ABHD12 Sarah Leigh reviewed ABHD12
Undiagnosed metabolic disorders ABCG8 Sarah Leigh reviewed ABCG8
Undiagnosed metabolic disorders ABCG5 Sarah Leigh reviewed ABCG5
Undiagnosed metabolic disorders ABCD4 Sarah Leigh reviewed ABCD4
Undiagnosed metabolic disorders AASS Sarah Leigh reviewed AASS
Kleine-Levin syndrome TRPV4 Rosa Peraita-Adrados edited their review of TRPV4
Brain channelopathy SLC1A3 Arianna Tucci reviewed SLC1A3
Brain channelopathy CACNB4 Arianna Tucci reviewed CACNB4
Congenital muscular dystrophy RYR1 Ellen McDonagh marked RYR1 as ready
Congenital muscular dystrophy RYR1 Ellen McDonagh classified RYR1 as green
Congenital muscular dystrophy RYR1 Ellen McDonagh commented on RYR1
Congenital muscular dystrophy POMK Ellen McDonagh marked POMK as ready
Congenital muscular dystrophy POMK Ellen McDonagh classified POMK as green
Congenital muscular dystrophy POMK Ellen McDonagh commented on POMK
Brain channelopathy CACNA1A Arianna Tucci reviewed CACNA1A
Congenital muscular dystrophy MICU1 Ellen McDonagh marked MICU1 as ready
Congenital muscular dystrophy MICU1 Ellen McDonagh classified MICU1 as green
Congenital muscular dystrophy MICU1 Ellen McDonagh commented on MICU1
Congenital muscular dystrophy GMPPB Ellen McDonagh marked GMPPB as ready
Congenital muscular dystrophy GMPPB Ellen McDonagh classified GMPPB as green
Congenital muscular dystrophy GMPPB Ellen McDonagh commented on GMPPB
Brain channelopathy KCNA1 Arianna Tucci reviewed KCNA1
Congenital muscular dystrophy DOLK Ellen McDonagh marked DOLK as ready
Congenital muscular dystrophy DOLK Ellen McDonagh classified DOLK as green
Congenital muscular dystrophy DOLK Ellen McDonagh commented on DOLK
Congenital muscular dystrophy DAG1 Ellen McDonagh marked DAG1 as ready
Congenital muscular dystrophy DAG1 Ellen McDonagh marked DAG1 as ready
Congenital muscular dystrophy DAG1 Ellen McDonagh classified DAG1 as green
Congenital muscular dystrophy DAG1 Ellen McDonagh classified DAG1 as green
Congenital muscular dystrophy DAG1 Ellen McDonagh commented on DAG1
Palmoplantar keratoderma and erythrokeratodermas DSG1 Rebecca Foulger edited their review of DSG1
Palmoplantar keratoderma and erythrokeratodermas DSG1 Rebecca Foulger classified DSG1 as green
Palmoplantar keratoderma and erythrokeratodermas DSC2 Rebecca Foulger edited their review of DSC2
Palmoplantar keratoderma and erythrokeratodermas DSC2 Rebecca Foulger commented on DSC2
Palmoplantar keratoderma and erythrokeratodermas KRT6B Rebecca Foulger commented on KRT6B
Palmoplantar keratoderma and erythrokeratodermas KRT6B Rebecca Foulger edited their review of KRT6B
Palmoplantar keratoderma and erythrokeratodermas KRT6B Rebecca Foulger commented on KRT6B
Palmoplantar keratoderma and erythrokeratodermas KRT6A Rebecca Foulger marked KRT6A as ready
Palmoplantar keratoderma and erythrokeratodermas KRT6A Rebecca Foulger classified KRT6A as green
Palmoplantar keratoderma and erythrokeratodermas KRT6A Rebecca Foulger commented on KRT6A
Palmoplantar keratoderma and erythrokeratodermas AAGAB Rebecca Foulger marked AAGAB as ready
Palmoplantar keratoderma and erythrokeratodermas AAGAB Rebecca Foulger classified AAGAB as green
Palmoplantar keratoderma and erythrokeratodermas AAGAB Rebecca Foulger commented on AAGAB
Palmoplantar keratoderma and erythrokeratodermas SNAP29 Rebecca Foulger commented on SNAP29
Palmoplantar keratoderma and erythrokeratodermas SNAP29 Rebecca Foulger commented on SNAP29
Kleine-Levin syndrome HLA-DQB1 Sarah Leigh commented on HLA-DQB1
Palmoplantar keratoderma and erythrokeratodermas KRT17 Rebecca Foulger marked KRT17 as ready
Kleine-Levin syndrome HLA-DQB1 Sarah Leigh added HLA-DQB1 to panel
Kleine-Levin syndrome HLA-DQB1 Sarah Leigh reviewed HLA-DQB1
Congenital muscular dystrophy COL12A1 Ellen McDonagh classified COL12A1 as green
Congenital muscular dystrophy COL12A1 Ellen McDonagh marked COL12A1 as ready
Palmoplantar keratoderma and erythrokeratodermas SNAP29 Rebecca Foulger commented on SNAP29
Arthrogryposis FGFR3 Alice Gardham marked FGFR3 as ready
Arthrogryposis FGFR3 Alice Gardham classified FGFR3 as green
Arthrogryposis FGFR3 Alice Gardham added FGFR3 to panel
Arthrogryposis FGFR3 Alice Gardham reviewed FGFR3
Palmoplantar keratoderma and erythrokeratodermas KRT17 Rebecca Foulger classified KRT17 as green
Palmoplantar keratoderma and erythrokeratodermas KRT17 Rebecca Foulger commented on KRT17
Palmoplantar keratoderma and erythrokeratodermas KRT17 Rebecca Foulger commented on KRT17
Palmoplantar keratoderma and erythrokeratodermas KRT17 Rebecca Foulger edited their review of KRT17
Kleine-Levin syndrome TRPV4 Sarah Leigh classified TRPV4 as red
Arthrogryposis ERCC8 Alice Gardham marked ERCC8 as ready
Arthrogryposis ERCC8 Alice Gardham classified ERCC8 as green
Kleine-Levin syndrome EXT1 Sarah Leigh marked EXT1 as ready
Kleine-Levin syndrome EXT1 Sarah Leigh classified EXT1 as red
Arthrogryposis ERCC8 Alice Gardham added ERCC8 to panel
Arthrogryposis ERCC8 Alice Gardham reviewed ERCC8
Palmoplantar keratoderma and erythrokeratodermas KRT17 Rebecca Foulger commented on KRT17
Arthrogryposis SMAD3 Alice Gardham marked SMAD3 as ready
Palmoplantar keratoderma and erythrokeratodermas KRT16 Rebecca Foulger marked KRT16 as ready
Palmoplantar keratoderma and erythrokeratodermas KRT16 Rebecca Foulger classified KRT16 as green
Kleine-Levin syndrome EXT1 Sarah Leigh commented on EXT1
Kleine-Levin syndrome EXT1 Sarah Leigh classified EXT1 as amber
Arthrogryposis PRG4 Alice Gardham marked PRG4 as ready
Arthrogryposis PRG4 Alice Gardham classified PRG4 as green
Arthrogryposis PRG4 Alice Gardham added PRG4 to panel
Arthrogryposis PRG4 Alice Gardham reviewed PRG4
Palmoplantar keratoderma and erythrokeratodermas KRT16 Rebecca Foulger commented on KRT16
Palmoplantar keratoderma and erythrokeratodermas KRT9 Rebecca Foulger marked KRT9 as ready
Palmoplantar keratoderma and erythrokeratodermas KRT9 Rebecca Foulger commented on KRT9
Arthrogryposis ANTXR2 Alice Gardham marked ANTXR2 as ready
Arthrogryposis ANTXR2 Alice Gardham classified ANTXR2 as green
Palmoplantar keratoderma and erythrokeratodermas DSP Rebecca Foulger marked DSP as ready
Arthrogryposis ANTXR2 Alice Gardham added ANTXR2 to panel
Arthrogryposis ANTXR2 Alice Gardham reviewed ANTXR2
Palmoplantar keratoderma and erythrokeratodermas DSP Rebecca Foulger commented on DSP
Kleine-Levin syndrome SLC6A4 Sarah Leigh marked SLC6A4 as ready
Kleine-Levin syndrome SLC6A4 Sarah Leigh commented on SLC6A4
Palmoplantar keratoderma and erythrokeratodermas SASH1 Rebecca Foulger commented on SASH1
Palmoplantar keratoderma and erythrokeratodermas RHBDF2 Rebecca Foulger commented on RHBDF2
Palmoplantar keratoderma and erythrokeratodermas MT-TS1 Rebecca Foulger commented on MT-TS1
Palmoplantar keratoderma and erythrokeratodermas KANK2 Rebecca Foulger commented on KANK2
Palmoplantar keratoderma and erythrokeratodermas GJB4 Rebecca Foulger commented on GJB4
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger edited their review of GJB3
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger commented on GJB3
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger commented on GJA1
Arthrogryposis IRF6 Alice Gardham marked IRF6 as ready
Kleine-Levin syndrome PER2 Sarah Leigh marked PER2 as ready
Kleine-Levin syndrome PER2 Sarah Leigh commented on PER2
Arthrogryposis IRF6 Alice Gardham reviewed IRF6
Arthrogryposis RIPK4 Alice Gardham marked RIPK4 as ready
Arthrogryposis RIPK4 Alice Gardham classified RIPK4 as green
Arthrogryposis RIPK4 Alice Gardham reviewed RIPK4
Arthrogryposis PFKM Alice Gardham classified PFKM as green
Arthrogryposis PFKM Alice Gardham classified PFKM as green
Palmoplantar keratoderma and erythrokeratodermas FAM83G Rebecca Foulger commented on FAM83G
Palmoplantar keratoderma and erythrokeratodermas DSG1 Rebecca Foulger commented on DSG1
Congenital muscular dystrophy LMNA Ellen McDonagh marked LMNA as ready
Arthrogryposis SMAD3 Alice Gardham added SMAD3 to panel
Arthrogryposis SMAD3 Alice Gardham reviewed SMAD3
Arthrogryposis TGFB2 Alice Gardham marked TGFB2 as ready
Arthrogryposis TGFB2 Alice Gardham added TGFB2 to panel
Arthrogryposis TGFB2 Alice Gardham reviewed TGFB2
Arthrogryposis TGFB3 Alice Gardham marked TGFB3 as ready
Arthrogryposis TGFB3 Alice Gardham classified TGFB3 as green
Arthrogryposis TGFB3 Alice Gardham added TGFB3 to panel
Arthrogryposis TGFB3 Alice Gardham reviewed TGFB3
Arthrogryposis GLDN Alice Gardham marked GLDN as ready
Arthrogryposis GLDN Alice Gardham classified GLDN as green
Arthrogryposis GLDN Alice Gardham added GLDN to panel
Arthrogryposis GLDN Alice Gardham reviewed GLDN
Arthrogryposis ADCY6 Alice Gardham marked ADCY6 as ready
Arthrogryposis ADCY6 Alice Gardham added ADCY6 to panel
Arthrogryposis ADCY6 Alice Gardham reviewed ADCY6
Arthrogryposis CNTNAP1 Alice Gardham marked CNTNAP1 as ready
Arthrogryposis CNTNAP1 Alice Gardham classified CNTNAP1 as green
Arthrogryposis CNTNAP1 Alice Gardham added CNTNAP1 to panel
Arthrogryposis CNTNAP1 Alice Gardham reviewed CNTNAP1
Kleine-Levin syndrome NTRK2 Sarah Leigh marked NTRK2 as ready
Kleine-Levin syndrome NTRK2 Sarah Leigh commented on NTRK2
Arthrogryposis ADGRG6 Alice Gardham marked ADGRG6 as ready
Arthrogryposis ADGRG6 Alice Gardham classified ADGRG6 as green
Arthrogryposis ADGRG6 Alice Gardham added ADGRG6 to panel
Arthrogryposis ADGRG6 Alice Gardham reviewed ADGRG6
Arthrogryposis PI4KA Alice Gardham marked PI4KA as ready
Arthrogryposis PI4KA Alice Gardham added PI4KA to panel
Arthrogryposis PI4KA Alice Gardham reviewed PI4KA
Arthrogryposis NEK9 Alice Gardham marked NEK9 as ready
Arthrogryposis NEK9 Alice Gardham added NEK9 to panel
Arthrogryposis NEK9 Alice Gardham reviewed NEK9
Kleine-Levin syndrome MOG Sarah Leigh marked MOG as ready
Kleine-Levin syndrome MOG Sarah Leigh classified MOG as amber
Kleine-Levin syndrome MOG Sarah Leigh commented on MOG
Kleine-Levin syndrome MOG Sarah Leigh classified MOG as amber
Arthrogryposis IBA57 Alice Gardham marked IBA57 as ready
Arthrogryposis LDB3 Alice Gardham marked LDB3 as ready
Kleine-Levin syndrome HCRT Sarah Leigh marked HCRT as ready
Kleine-Levin syndrome HCRT Sarah Leigh commented on HCRT
Arthrogryposis TGFBR2 Alice Gardham marked TGFBR2 as ready
Arthrogryposis TGFBR2 Alice Gardham reviewed TGFBR2
Arthrogryposis TGFBR1 Alice Gardham marked TGFBR1 as ready
Arthrogryposis TGFBR1 Alice Gardham reviewed TGFBR1
Arthrogryposis SYT2 Alice Gardham marked SYT2 as ready
Arthrogryposis SYT2 Alice Gardham commented on SYT2
Arthrogryposis STIM2 Alice Gardham marked STIM2 as ready
Arthrogryposis STIM2 Alice Gardham commented on STIM2
Arthrogryposis SMCHD1 Alice Gardham marked SMCHD1 as ready
Arthrogryposis SMCHD1 Alice Gardham commented on SMCHD1
Kleine-Levin syndrome CSNK1D Sarah Leigh marked CSNK1D as ready
Kleine-Levin syndrome CSNK1D Sarah Leigh commented on CSNK1D
Arthrogryposis POMK Alice Gardham marked POMK as ready
Arthrogryposis POMK Alice Gardham commented on POMK
Arthrogryposis MYH14 Alice Gardham marked MYH14 as ready
Arthrogryposis MYH14 Alice Gardham commented on MYH14
Kleine-Levin syndrome CSNK1D Sarah Leigh classified CSNK1D as amber
Arthrogryposis MTMR1 Alice Gardham marked MTMR1 as ready
Arthrogryposis MTMR1 Alice Gardham commented on MTMR1
Arthrogryposis MT-TL1 Alice Gardham marked MT-TL1 as ready
Arthrogryposis MT-TL1 Alice Gardham commented on MT-TL1
Arthrogryposis MPZ Alice Gardham marked MPZ as ready
Arthrogryposis MPZ Alice Gardham reviewed MPZ
Arthrogryposis MICU1 Alice Gardham marked MICU1 as ready
Arthrogryposis MICU1 Alice Gardham commented on MICU1
Arthrogryposis MFN2 Alice Gardham marked MFN2 as ready
Arthrogryposis MFN2 Alice Gardham commented on MFN2
Arthrogryposis LPIN1 Alice Gardham commented on LPIN1
Arthrogryposis LPIN1 Alice Gardham marked LPIN1 as ready
Congenital muscular dystrophy ACTA1 Ellen McDonagh classified ACTA1 as amber
Arthrogryposis KLHL7 Alice Gardham classified KLHL7 as amber
Arthrogryposis KLHL7 Alice Gardham reviewed KLHL7
Kleine-Levin syndrome AKR1C2 Sarah Leigh marked AKR1C2 as ready
Kleine-Levin syndrome AKR1C2 Sarah Leigh commented on AKR1C2
Arthrogryposis ISCU Alice Gardham marked ISCU as ready
Arthrogryposis ISCU Alice Gardham commented on ISCU
Kleine-Levin syndrome DNMT1 Sarah Leigh marked DNMT1 as ready
Kleine-Levin syndrome DNMT1 Sarah Leigh commented on DNMT1
Arthrogryposis IGHMBP2 Alice Gardham marked IGHMBP2 as ready
Arthrogryposis IGHMBP2 Alice Gardham reviewed IGHMBP2
Kleine-Levin syndrome EIF3G Sarah Leigh added EIF3G to panel
Kleine-Levin syndrome EIF3G Sarah Leigh reviewed EIF3G
Arthrogryposis IBA57 Alice Gardham reviewed IBA57
Arthrogryposis GMPPB Alice Gardham marked GMPPB as ready
Arthrogryposis GMPPB Alice Gardham commented on GMPPB
Arthrogryposis GFER Alice Gardham marked GFER as ready
Arthrogryposis GFER Alice Gardham commented on GFER
Arthrogryposis GDAP1 Alice Gardham marked GDAP1 as ready
Arthrogryposis GDAP1 Alice Gardham commented on GDAP1
Arthrogryposis GBE1 Alice Gardham marked GBE1 as ready
Arthrogryposis GBE1 Alice Gardham classified GBE1 as green
Arthrogryposis GBE1 Alice Gardham reviewed GBE1
Arthrogryposis HSPG2 Alice Gardham marked HSPG2 as ready
Arthrogryposis HSPG2 Alice Gardham edited their review of HSPG2
Arthrogryposis HSPG2 Alice Gardham reviewed HSPG2
Arthrogryposis HRAS Alice Gardham marked HRAS as ready
Arthrogryposis HRAS Alice Gardham commented on HRAS
Arthrogryposis HNRNPA1 Alice Gardham marked HNRNPA1 as ready
Arthrogryposis HNRNPA1 Alice Gardham commented on HNRNPA1
Arthrogryposis HADHB Alice Gardham marked HADHB as ready
Arthrogryposis HADHB Alice Gardham commented on HADHB
Arthrogryposis HADHA Alice Gardham marked HADHA as ready
Arthrogryposis HADHA Alice Gardham commented on HADHA
Arthrogryposis HADH Alice Gardham marked HADH as ready
Arthrogryposis HADH Alice Gardham commented on HADH
Arthrogryposis GRN Alice Gardham marked GRN as ready
Arthrogryposis GRN Alice Gardham commented on GRN
Arthrogryposis DPAGT1 Alice Gardham marked DPAGT1 as ready
Arthrogryposis DPAGT1 Alice Gardham classified DPAGT1 as red
Arthrogryposis GBA Alice Gardham marked GBA as ready
Arthrogryposis GBA Alice Gardham reviewed GBA
Arthrogryposis GARS Alice Gardham marked GARS as ready
Arthrogryposis GARS Alice Gardham commented on GARS
Arthrogryposis GAA Alice Gardham marked GAA as ready
Arthrogryposis GAA Alice Gardham commented on GAA
Arthrogryposis FLNC Alice Gardham marked FLNC as ready
Arthrogryposis FLNC Alice Gardham commented on FLNC
Arthrogryposis FLNB Alice Gardham marked FLNB as ready
Arthrogryposis FLNB Alice Gardham commented on FLNB
Arthrogryposis FKRP Alice Gardham marked FKRP as ready
Arthrogryposis FKBP14 Alice Gardham marked FKBP14 as ready
Arthrogryposis FKBP14 Alice Gardham commented on FKBP14
Arthrogryposis FKBP10 Alice Gardham marked FKBP10 as ready
Arthrogryposis FKBP10 Alice Gardham classified FKBP10 as green
Arthrogryposis FKBP10 Alice Gardham reviewed FKBP10
Arthrogryposis FHL1 Alice Gardham marked FHL1 as ready
Arthrogryposis FHL1 Alice Gardham commented on FHL1
Arthrogryposis FGFR2 Alice Gardham marked FGFR2 as ready
Arthrogryposis FGFR2 Alice Gardham classified FGFR2 as green
Arthrogryposis FGFR2 Alice Gardham reviewed FGFR2
Arthrogryposis FBN2 Alice Gardham marked FBN2 as ready
Arthrogryposis FBN2 Alice Gardham classified FBN2 as green
Arthrogryposis FBN2 Alice Gardham reviewed FBN2
Rhabdomyolysis and metabolic muscle disorders Sarah Leigh promoted panel to version 1
Arthrogryposis FAM20C Alice Gardham marked FAM20C as ready
Arthrogryposis FAM20C Alice Gardham classified FAM20C as green
Arthrogryposis FAM20C Alice Gardham reviewed FAM20C
Arthrogryposis FAM111B Alice Gardham marked FAM111B as ready
Arthrogryposis FAM111B Alice Gardham reviewed FAM111B
Arthrogryposis EXOSC3 Alice Gardham marked EXOSC3 as ready
Arthrogryposis EXOSC3 Alice Gardham classified EXOSC3 as green
Arthrogryposis EXOSC3 Alice Gardham reviewed EXOSC3
Arthrogryposis ETFDH Alice Gardham marked ETFDH as ready
Arthrogryposis ETFDH Alice Gardham reviewed ETFDH
Arthrogryposis ETFB Alice Gardham marked ETFB as ready
Arthrogryposis ETFB Alice Gardham reviewed ETFB
Arthrogryposis ETFA Alice Gardham marked ETFA as ready
Arthrogryposis ETFA Alice Gardham reviewed ETFA
Arthrogryposis DUX4 Alice Gardham marked DUX4 as ready
Arthrogryposis DUX4 Alice Gardham commented on DUX4
Arthrogryposis DPM3 Alice Gardham marked DPM3 as ready
Arthrogryposis DPM1 Alice Gardham marked DPM1 as ready
Arthrogryposis DPM1 Alice Gardham commented on DPM1
Arthrogryposis DOLK Alice Gardham marked DOLK as ready
Arthrogryposis DOLK Alice Gardham commented on DOLK
Arthrogryposis DAG1 Alice Gardham marked DAG1 as ready
Arthrogryposis DAG1 Alice Gardham commented on DAG1
Arthrogryposis CRLF1 Alice Gardham marked CRLF1 as ready
Arthrogryposis CRLF1 Alice Gardham classified CRLF1 as green
Arthrogryposis COL4A1 Alice Gardham marked COL4A1 as ready
Arthrogryposis COL4A1 Alice Gardham commented on COL4A1
Arthrogryposis COL12A1 Alice Gardham marked COL12A1 as ready
Arthrogryposis COL12A1 Alice Gardham classified COL12A1 as green
Arthrogryposis COL12A1 Alice Gardham commented on COL12A1
Arthrogryposis CNTN1 Alice Gardham marked CNTN1 as ready
Arthrogryposis CNTN1 Alice Gardham reviewed CNTN1
Arthrogryposis ALG2 Alice Gardham marked ALG2 as ready
Arthrogryposis ALG2 Alice Gardham reviewed ALG2
Arthrogryposis AGRN Alice Gardham marked AGRN as ready
Arthrogryposis AGRN Alice Gardham reviewed AGRN
Rhabdomyolysis and metabolic muscle disorders SLC2A9 Sarah Leigh marked SLC2A9 as ready
Rhabdomyolysis and metabolic muscle disorders SLC2A9 Sarah Leigh commented on SLC2A9
Arthrogryposis ACADM Alice Gardham classified ACADM as red
Arthrogryposis ACADM Alice Gardham classified ACADM as red
Arthrogryposis ACADM Alice Gardham classified ACADM as red
Arthrogryposis ACADM Alice Gardham commented on ACADM
Arthrogryposis ABHD5 Alice Gardham reviewed ABHD5
Rhabdomyolysis and metabolic muscle disorders SLC2A9 Sarah Leigh classified SLC2A9 as red
Arthrogryposis YARS2 Alice Gardham marked YARS2 as ready
Arthrogryposis YARS2 Alice Gardham classified YARS2 as red
Arthrogryposis YARS2 Alice Gardham commented on YARS2
Rhabdomyolysis and metabolic muscle disorders SLC22A12 Sarah Leigh marked SLC22A12 as ready
Arthrogryposis VCP Alice Gardham marked VCP as ready
Arthrogryposis VCP Alice Gardham classified VCP as red
Arthrogryposis VCP Alice Gardham commented on VCP
Rhabdomyolysis and metabolic muscle disorders SLC22A12 Sarah Leigh commented on SLC22A12
Rhabdomyolysis and metabolic muscle disorders SLC22A12 Sarah Leigh classified SLC22A12 as red
Arthrogryposis PUS1 Alice Gardham marked PUS1 as ready
Arthrogryposis PUS1 Alice Gardham classified PUS1 as red
Arthrogryposis PUS1 Alice Gardham commented on PUS1
Rhabdomyolysis and metabolic muscle disorders OBSCN Sarah Leigh marked OBSCN as ready
Rhabdomyolysis and metabolic muscle disorders OBSCN Sarah Leigh commented on OBSCN
Arthrogryposis MYF6 Alice Gardham marked MYF6 as ready
Arthrogryposis MYF6 Alice Gardham classified MYF6 as red
Arthrogryposis MYF6 Alice Gardham reviewed MYF6
Rhabdomyolysis and metabolic muscle disorders OBSCN Sarah Leigh classified OBSCN as red
Arthrogryposis MATR3 Alice Gardham marked MATR3 as ready
Arthrogryposis MATR3 Alice Gardham classified MATR3 as red
Arthrogryposis MATR3 Alice Gardham reviewed MATR3
Rhabdomyolysis and metabolic muscle disorders OBSCN Sarah Leigh classified OBSCN as red
Arthrogryposis LDB3 Alice Gardham classified LDB3 as red
Arthrogryposis LDB3 Alice Gardham reviewed LDB3
Arthrogryposis GNE Alice Gardham marked GNE as ready
Arthrogryposis GNE Alice Gardham classified GNE as red
Arthrogryposis GNE Alice Gardham classified GNE as red
Arthrogryposis GNE Alice Gardham reviewed GNE
Arthrogryposis EMD Alice Gardham marked EMD as ready
Arthrogryposis EMD Alice Gardham classified EMD as red
Arthrogryposis EMD Alice Gardham commented on EMD
Rhabdomyolysis and metabolic muscle disorders CYP2C8 Sarah Leigh edited their review of CYP2C8
Arthrogryposis DPM2 Alice Gardham marked DPM2 as ready
Arthrogryposis DPM2 Alice Gardham classified DPM2 as amber
Arthrogryposis DPM2 Alice Gardham commented on DPM2
Arthrogryposis DYSF Alice Gardham marked DYSF as ready
Arthrogryposis DYSF Alice Gardham classified DYSF as red
Arthrogryposis DYSF Alice Gardham commented on DYSF
Rhabdomyolysis and metabolic muscle disorders CYP2C8 Sarah Leigh commented on CYP2C8
Arthrogryposis DPAGT1 Alice Gardham reviewed DPAGT1
Rhabdomyolysis and metabolic muscle disorders RBCK1 Sarah Leigh classified RBCK1 as green
Rhabdomyolysis and metabolic muscle disorders RBCK1 Sarah Leigh marked RBCK1 as ready
Rhabdomyolysis and metabolic muscle disorders RBCK1 Sarah Leigh commented on RBCK1
Arthrogryposis DNM2 Alice Gardham marked DNM2 as ready
Arthrogryposis TMEM5 Alice Gardham marked TMEM5 as ready
Arthrogryposis TMEM5 Alice Gardham commented on TMEM5
Arthrogryposis TMEM5 Alice Gardham classified TMEM5 as red
Arthrogryposis SCN4A Alice Gardham marked SCN4A as ready
Rhabdomyolysis and metabolic muscle disorders CAV3 Sarah Leigh marked CAV3 as ready
Arthrogryposis SCN4A Alice Gardham classified SCN4A as red
Arthrogryposis SCN4A Alice Gardham reviewed SCN4A
Arthrogryposis POMT2 Alice Gardham marked POMT2 as ready
Arthrogryposis POMT2 Alice Gardham classified POMT2 as red
Arthrogryposis POMT2 Alice Gardham commented on POMT2
Rhabdomyolysis and metabolic muscle disorders CAV3 Sarah Leigh commented on CAV3
Arthrogryposis POMGNT2 Alice Gardham marked POMGNT2 as ready
Arthrogryposis POMGNT2 Alice Gardham classified POMGNT2 as red
Arthrogryposis POMGNT2 Alice Gardham commented on POMGNT2
Arthrogryposis POMT1 Alice Gardham marked POMT1 as ready
Arthrogryposis POMT1 Alice Gardham classified POMT1 as red
Arthrogryposis POMT1 Alice Gardham commented on POMT1
Arthrogryposis POMGNT1 Alice Gardham marked POMGNT1 as ready
Arthrogryposis POMGNT1 Alice Gardham commented on POMGNT1
Arthrogryposis POMGNT1 Alice Gardham classified POMGNT1 as red
Arthrogryposis LMNA Alice Gardham marked LMNA as ready
Arthrogryposis LMNA Alice Gardham classified LMNA as red
Arthrogryposis LMNA Alice Gardham commented on LMNA
Rhabdomyolysis and metabolic muscle disorders POLG1 Sarah Leigh classified POLG1* as grey
Rhabdomyolysis and metabolic muscle disorders POLG1 Sarah Leigh commented on POLG1*
Arthrogryposis LARGE Alice Gardham marked LARGE as ready
Arthrogryposis LARGE Alice Gardham commented on LARGE
Arthrogryposis LARGE Alice Gardham classified LARGE as red
Arthrogryposis LAMA2 Alice Gardham marked LAMA2 as ready
Arthrogryposis LAMA2 Alice Gardham commented on LAMA2
Rhabdomyolysis and metabolic muscle disorders GYG1 Sarah Leigh marked GYG1 as ready
Rhabdomyolysis and metabolic muscle disorders GYG1 Sarah Leigh commented on GYG1
Rhabdomyolysis and metabolic muscle disorders GYG1 Sarah Leigh classified GYG1 as green
Arthrogryposis ITGA7 Alice Gardham marked ITGA7 as ready
Arthrogryposis ITGA7 Alice Gardham classified ITGA7 as red
Arthrogryposis ITGA7 Alice Gardham commented on ITGA7
Arthrogryposis ISPD Alice Gardham marked ISPD as ready
Arthrogryposis ISPD Alice Gardham classified ISPD as red
Arthrogryposis ISPD Alice Gardham commented on ISPD
Arthrogryposis GFPT1 Alice Gardham marked GFPT1 as ready
Arthrogryposis GFPT1 Alice Gardham classified GFPT1 as red
Arthrogryposis GFPT1 Alice Gardham commented on GFPT1
Arthrogryposis FKTN Alice Gardham marked FKTN as ready
Arthrogryposis FKTN Alice Gardham classified FKTN as red
Arthrogryposis FKTN Alice Gardham commented on FKTN
Arthrogryposis FKRP Alice Gardham classified FKRP as red
Arthrogryposis FKRP Alice Gardham classified FKRP as red
Arthrogryposis FKRP Alice Gardham commented on FKRP
Arthrogryposis CHRND Alice Gardham marked CHRND as ready
Arthrogryposis CHRND Alice Gardham reviewed CHRND
Arthrogryposis CHRNB1 Alice Gardham marked CHRNB1 as ready
Arthrogryposis CHRNB1 Alice Gardham commented on CHRNB1
Rhabdomyolysis and metabolic muscle disorders SLC2A9 Ros Quinlivan reviewed SLC2A9
Rhabdomyolysis and metabolic muscle disorders SLC22A12 Ros Quinlivan reviewed SLC22A12
Rhabdomyolysis and metabolic muscle disorders POLG1 Ros Quinlivan reviewed POLG1*
Rhabdomyolysis and metabolic muscle disorders OBSCN Ros Quinlivan reviewed OBSCN
Rhabdomyolysis and metabolic muscle disorders CYP2C8 Ros Quinlivan reviewed CYP2C8
Rhabdomyolysis and metabolic muscle disorders RBCK1 Ros Quinlivan reviewed RBCK1
Rhabdomyolysis and metabolic muscle disorders CAV3 Ros Quinlivan reviewed CAV3
Rhabdomyolysis and metabolic muscle disorders GYG1 Ros Quinlivan reviewed GYG1
Rhabdomyolysis and metabolic muscle disorders CPT2 Ros Quinlivan reviewed CPT2
Rhabdomyolysis and metabolic muscle disorders CACNA1S Ros Quinlivan reviewed CACNA1S
Arthrogryposis CHRNB1 Alice Gardham reviewed CHRNB1
Arthrogryposis CHRNA1 Alice Gardham marked CHRNA1 as ready
Arthrogryposis CHRNA1 Alice Gardham reviewed CHRNA1
Arthrogryposis B4GAT1 Alice Gardham marked B4GAT1 as ready
Arthrogryposis B4GAT1 Alice Gardham classified B4GAT1 as red
Arthrogryposis B4GAT1 Alice Gardham commented on B4GAT1
Arthrogryposis B3GALNT2 Alice Gardham marked B3GALNT2 as ready
Arthrogryposis B3GALNT2 Alice Gardham classified B3GALNT2 as red
Arthrogryposis B3GALNT2 Alice Gardham commented on B3GALNT2
Arthrogryposis DOK7 Alice Gardham marked DOK7 as ready
Arthrogryposis DOK7 Alice Gardham reviewed DOK7
Arthrogryposis DES Alice Gardham marked DES as ready
Arthrogryposis DES Alice Gardham classified DES as red
Arthrogryposis DES Alice Gardham commented on DES
Arthrogryposis DNAJB6 Alice Gardham marked DNAJB6 as ready
Arthrogryposis DNAJB6 Alice Gardham commented on DNAJB6
Rhabdomyolysis and metabolic muscle disorders CPT2 Sarah Leigh classified CPT2 as green
Rhabdomyolysis and metabolic muscle disorders CACNA1S Sarah Leigh marked CACNA1S as ready
Arthrogryposis DMD Alice Gardham marked DMD as ready
Arthrogryposis DMD Alice Gardham classified DMD as red
Arthrogryposis DMD Alice Gardham commented on DMD
Arthrogryposis CHKB Alice Gardham marked CHKB as ready
Arthrogryposis CHKB Alice Gardham classified CHKB as red
Arthrogryposis CHKB Alice Gardham commented on CHKB
Arthrogryposis BAG3 Alice Gardham marked BAG3 as ready
Arthrogryposis BAG3 Alice Gardham classified BAG3 as red
Arthrogryposis BAG3 Alice Gardham commented on BAG3
Arthrogryposis CTDP1 Alice Gardham marked CTDP1 as ready
Arthrogryposis CTDP1 Alice Gardham commented on CTDP1
Rhabdomyolysis and metabolic muscle disorders CACNA1S Sarah Leigh commented on CACNA1S
Arthrogryposis CRYAB Alice Gardham marked CRYAB as ready
Arthrogryposis CRYAB Alice Gardham classified CRYAB as red
Arthrogryposis CRYAB Alice Gardham commented on CRYAB
Arthrogryposis CRLF1 Alice Gardham reviewed CRLF1
Arthrogryposis CHAT Alice Gardham marked CHAT as ready
Arthrogryposis CHAT Alice Gardham commented on CHAT
Arthrogryposis CHAT Alice Gardham commented on CHAT
Arthrogryposis CHAT Alice Gardham reviewed CHAT
Arthrogryposis CHRNE Alice Gardham marked CHRNE as ready
Arthrogryposis CHRNE Alice Gardham reviewed CHRNE
Arthrogryposis CPT2 Alice Gardham marked CPT2 as ready
Arthrogryposis CPT2 Alice Gardham commented on CPT2
Arthrogryposis COLQ Alice Gardham marked COLQ as ready
Arthrogryposis COLQ Alice Gardham classified COLQ as green
Arthrogryposis COLQ Alice Gardham commented on COLQ
Arthrogryposis COLQ Alice Gardham reviewed COLQ
Arthrogryposis MYOT Alice Gardham marked MYOT as ready
Arthrogryposis MYOT Alice Gardham classified MYOT as red
Arthrogryposis MYOT Alice Gardham commented on MYOT
Arthrogryposis MUSK Alice Gardham marked MUSK as ready
Arthrogryposis MUSK Alice Gardham reviewed MUSK
Early onset dystonia KMT2B Ellen McDonagh classified KMT2B as green
Early onset dystonia KMT2B Ellen McDonagh edited their review of KMT2B
Severe microcephaly DNA2 Rebecca Foulger marked DNA2 as ready
Severe microcephaly DNA2 Rebecca Foulger commented on DNA2
Severe microcephaly DNA2 Rebecca Foulger commented on DNA2
Severe microcephaly NIN Rebecca Foulger marked NIN as ready
Undiagnosed metabolic disorders MAT1A Saikat Santra reviewed MAT1A
Undiagnosed metabolic disorders CA5A Saikat Santra reviewed CA5A
Undiagnosed metabolic disorders ACADVL Saikat Santra commented on ACADVL
Undiagnosed metabolic disorders ACADM Saikat Santra reviewed ACADM
Undiagnosed metabolic disorders ACAD9 Saikat Santra reviewed ACAD9
Undiagnosed metabolic disorders ABCD1 Saikat Santra reviewed ABCD1
Undiagnosed metabolic disorders ABAT Saikat Santra reviewed ABAT
Undiagnosed metabolic disorders ABCB7 Saikat Santra reviewed ABCB7
Undiagnosed metabolic disorders AARS2 Saikat Santra reviewed AARS2
Severe microcephaly NIN Rebecca Foulger commented on NIN
Early onset dystonia KMT2B Ellen McDonagh commented on KMT2B
Severe microcephaly SLC25A19 Rebecca Foulger commented on SLC25A19
Severe microcephaly CKAP2L Rebecca Foulger commented on CKAP2L
Severe microcephaly KIF11 Rebecca Foulger commented on KIF11
Early onset dystonia KMT2B Ellen McDonagh added KMT2B to panel
Severe microcephaly CASK Rebecca Foulger commented on CASK
Early onset dystonia KMT2B Ellen McDonagh reviewed KMT2B
Hereditary ataxia XRCC1 Ellen McDonagh added XRCC1 to panel
Hereditary ataxia XRCC1 Ellen McDonagh reviewed XRCC1
Kleine-Levin syndrome EXT1 Rosa Peraita-Adrados commented on EXT1
Kleine-Levin syndrome EXT1 Rosa Peraita-Adrados added EXT1 to panel
Kleine-Levin syndrome EXT1 Rosa Peraita-Adrados reviewed EXT1
Arthrogryposis NALCN Alice Gardham marked NALCN as ready
Arthrogryposis NALCN Alice Gardham classified NALCN as green
Arthrogryposis NALCN Alice Gardham reviewed NALCN
Arthrogryposis NEFL Alice Gardham commented on NEFL
Arthrogryposis NEFL Alice Gardham marked NEFL as ready
Arthrogryposis PABPN1 Alice Gardham marked PABPN1 as ready
Arthrogryposis PABPN1 Alice Gardham commented on PABPN1
Arthrogryposis PFKM Alice Gardham marked PFKM as ready
Arthrogryposis PFKM Alice Gardham commented on PFKM
Arthrogryposis PIP5K1C Alice Gardham classified PIP5K1C as amber
Arthrogryposis PIP5K1C Alice Gardham reviewed PIP5K1C
Arthrogryposis PLEC Alice Gardham marked PLEC as ready
Arthrogryposis PLEC Alice Gardham commented on PLEC
Arthrogryposis PLOD2 Alice Gardham marked PLOD2 as ready
Arthrogryposis PLOD2 Alice Gardham reviewed PLOD2
Arthrogryposis PNPLA2 Alice Gardham marked PNPLA2 as ready
Arthrogryposis PNPLA2 Alice Gardham commented on PNPLA2
Arthrogryposis PNPLA2 Alice Gardham classified PNPLA2 as red
Arthrogryposis POLG Alice Gardham marked POLG as ready
Arthrogryposis POLG Alice Gardham commented on POLG
Arthrogryposis PYGM Alice Gardham marked PYGM as ready
Arthrogryposis PYGM Alice Gardham commented on PYGM
Arthrogryposis RAPSN Alice Gardham marked RAPSN as ready
Arthrogryposis RAPSN Alice Gardham reviewed RAPSN
Arthrogryposis RBCK1 Alice Gardham marked RBCK1 as ready
Arthrogryposis RBCK1 Alice Gardham commented on RBCK1
Arthrogryposis RRM2B Alice Gardham marked RRM2B as ready
Arthrogryposis RRM2B Alice Gardham commented on RRM2B
Arthrogryposis SGCA Alice Gardham marked SGCA as ready
Arthrogryposis SGCA Alice Gardham commented on SGCA
Arthrogryposis SGCB Alice Gardham marked SGCB as ready
Arthrogryposis SGCB Alice Gardham commented on SGCB
Arthrogryposis SGCD Alice Gardham marked SGCD as ready
Arthrogryposis SGCD Alice Gardham commented on SGCD
Arthrogryposis SGCG Alice Gardham commented on SGCG
Arthrogryposis SGCG Alice Gardham marked SGCG as ready
Arthrogryposis SIL1 Alice Gardham marked SIL1 as ready
Arthrogryposis SIL1 Alice Gardham commented on SIL1
Arthrogryposis SLC22A5 Alice Gardham commented on SLC22A5
Arthrogryposis SLC22A5 Alice Gardham marked SLC22A5 as ready
Arthrogryposis SLC25A4 Alice Gardham commented on SLC25A4
Arthrogryposis SLC25A4 Alice Gardham marked SLC25A4 as ready
Arthrogryposis SLC25A42 Alice Gardham marked SLC25A42 as ready
Arthrogryposis SLC25A42 Alice Gardham commented on SLC25A42
Arthrogryposis SLC52A3 Alice Gardham marked SLC52A3 as ready
Arthrogryposis SLC52A3 Alice Gardham commented on SLC52A3
Arthrogryposis SYNE1 Alice Gardham marked SYNE1 as ready
Arthrogryposis SYNE1 Alice Gardham commented on SYNE1
Arthrogryposis SYNE1 Alice Gardham classified SYNE1 as red
Arthrogryposis SYNE2 Alice Gardham marked SYNE2 as ready
Arthrogryposis SYNE2 Alice Gardham commented on SYNE2
Arthrogryposis TCAP Alice Gardham marked TCAP as ready
Arthrogryposis TCAP Alice Gardham commented on TCAP
Arthrogryposis TIA1 Alice Gardham marked TIA1 as ready
Arthrogryposis TIA1 Alice Gardham commented on TIA1
Arthrogryposis TK2 Alice Gardham marked TK2 as ready
Arthrogryposis TK2 Alice Gardham commented on TK2
Arthrogryposis TMEM43 Alice Gardham commented on TMEM43
Arthrogryposis TMEM43 Alice Gardham marked TMEM43 as ready
Arthrogryposis TRIM32 Alice Gardham marked TRIM32 as ready
Arthrogryposis TRPV4 Alice Gardham marked TRPV4 as ready
Arthrogryposis TRPV4 Alice Gardham classified TRPV4 as green
Arthrogryposis TRPV4 Alice Gardham reviewed TRPV4
Arthrogryposis TSEN2 Alice Gardham marked TSEN2 as ready
Arthrogryposis TSEN2 Alice Gardham marked TSEN2 as ready
Arthrogryposis TSEN2 Alice Gardham commented on TSEN2
Arthrogryposis TSEN2 Alice Gardham reviewed TSEN2
Arthrogryposis TSEN34 Alice Gardham marked TSEN34 as ready
Arthrogryposis TSEN34 Alice Gardham reviewed TSEN34
Arthrogryposis TTN Alice Gardham marked TTN as ready
Arthrogryposis TTN Alice Gardham classified TTN as red
Arthrogryposis TTN Alice Gardham reviewed TTN
Arthrogryposis TSEN54 Alice Gardham classified TSEN54 as green
Arthrogryposis TSEN54 Alice Gardham classified TSEN54 as green
Arthrogryposis TSEN54 Alice Gardham classified TSEN54 as green
Arthrogryposis TSEN54 Alice Gardham marked TSEN54 as ready
Arthrogryposis TSEN54 Alice Gardham reviewed TSEN54
Arthrogryposis UBA1 Alice Gardham marked UBA1 as ready
Arthrogryposis UBA1 Alice Gardham reviewed UBA1
Arthrogryposis UTRN Alice Gardham marked UTRN as ready
Arthrogryposis ZMPSTE24 Alice Gardham marked ZMPSTE24 as ready
Arthrogryposis ZMPSTE24 Alice Gardham marked ZMPSTE24 as ready
Arthrogryposis ZMPSTE24 Alice Gardham classified ZMPSTE24 as green
Arthrogryposis ZMPSTE24 Alice Gardham reviewed ZMPSTE24
Arthrogryposis MEGF10 Alice Gardham marked MEGF10 as ready
Arthrogryposis MEGF10 Alice Gardham classified MEGF10 as red
Arthrogryposis MEGF10 Alice Gardham reviewed MEGF10
Arthrogryposis LMOD3 Alice Gardham marked LMOD3 as ready
Arthrogryposis LMOD3 Alice Gardham classified LMOD3 as green
Arthrogryposis LMOD3 Alice Gardham added LMOD3 to panel
Arthrogryposis LMOD3 Alice Gardham reviewed LMOD3
Arthrogryposis STAC3 Alice Gardham marked STAC3 as ready
Arthrogryposis STAC3 Alice Gardham marked STAC3 as ready
Arthrogryposis STAC3 Alice Gardham reviewed STAC3
Arthrogryposis LAMP2 Alice Gardham marked LAMP2 as ready
Arthrogryposis LAMP2 Alice Gardham classified LAMP2 as red
Arthrogryposis LAMP2 Alice Gardham reviewed LAMP2
Arthrogryposis ZC4H2 Alice Gardham marked ZC4H2 as ready
Arthrogryposis ZC4H2 Alice Gardham classified ZC4H2 as green
Arthrogryposis ZC4H2 Alice Gardham added ZC4H2 to panel
Arthrogryposis ZC4H2 Alice Gardham reviewed ZC4H2
Arthrogryposis SLC35A3 Alice Gardham marked SLC35A3 as ready
Arthrogryposis SLC35A3 Alice Gardham added SLC35A3 to panel
Arthrogryposis SLC35A3 Alice Gardham reviewed SLC35A3
Arthrogryposis KLHL40 Alice Gardham marked KLHL40 as ready
Arthrogryposis KLHL40 Alice Gardham classified KLHL40 as green
Arthrogryposis KLHL40 Alice Gardham reviewed KLHL40
Arthrogryposis KLHL41 Alice Gardham marked KLHL41 as ready
Arthrogryposis KLHL41 Alice Gardham classified KLHL41 as green
Arthrogryposis KLHL41 Alice Gardham reviewed KLHL41
Arthrogryposis CCDC78 Alice Gardham marked CCDC78 as ready
Arthrogryposis STIM1 Alice Gardham reviewed STIM1
Arthrogryposis ORAI1 Alice Gardham classified ORAI1 as amber
Arthrogryposis ORAI1 Alice Gardham reviewed ORAI1
Arthrogryposis TPM3 Alice Gardham marked TPM3 as ready
Arthrogryposis TPM3 Alice Gardham reviewed TPM3
Arthrogryposis TNNT1 Alice Gardham marked TNNT1 as ready
Arthrogryposis TNNT1 Alice Gardham reviewed TNNT1
Arthrogryposis SEPN1 Alice Gardham marked SEPN1 as ready
Arthrogryposis SEPN1 Alice Gardham commented on SEPN1
Arthrogryposis RYR1 Alice Gardham marked RYR1 as ready
Arthrogryposis RYR1 Alice Gardham commented on RYR1
Arthrogryposis NEB Alice Gardham marked NEB as ready
Arthrogryposis NEB Alice Gardham reviewed NEB
Arthrogryposis MYH8 Alice Gardham marked MYH8 as ready
Arthrogryposis MYH8 Alice Gardham classified MYH8 as green
Arthrogryposis MYH8 Alice Gardham reviewed MYH8
Arthrogryposis MYH7 Alice Gardham classified MYH7 as amber
Arthrogryposis MYH7 Alice Gardham reviewed MYH7
Arthrogryposis MYH2 Alice Gardham marked MYH2 as ready
Arthrogryposis MYH2 Alice Gardham reviewed MYH2
Arthrogryposis MTM1 Alice Gardham marked MTM1 as ready
Arthrogryposis MTM1 Alice Gardham reviewed MTM1
Arthrogryposis KBTBD13 Alice Gardham marked KBTBD13 as ready
Arthrogryposis KBTBD13 Alice Gardham classified KBTBD13 as red
Arthrogryposis KBTBD13 Alice Gardham reviewed KBTBD13
Arthrogryposis DNM2 Alice Gardham classified DNM2 as amber
Arthrogryposis DNM2 Alice Gardham reviewed DNM2
Arthrogryposis CFL2 Alice Gardham marked CFL2 as ready
Arthrogryposis CFL2 Alice Gardham classified CFL2 as red
Arthrogryposis CFL2 Alice Gardham reviewed CFL2
Arthrogryposis BIN1 Alice Gardham marked BIN1 as ready
Arthrogryposis BIN1 Alice Gardham classified BIN1 as red
Arthrogryposis BIN1 Alice Gardham reviewed BIN1
Arthrogryposis ERCC6 Alice Gardham marked ERCC6 as ready
Arthrogryposis ERCC6 Alice Gardham commented on ERCC6
Arthrogryposis ERBB3 Alice Gardham classified ERBB3 as amber
Arthrogryposis ERBB3 Alice Gardham reviewed ERBB3
Arthrogryposis EGR2 Alice Gardham marked EGR2 as ready
Arthrogryposis CUL4B Alice Gardham marked CUL4B as ready
Arthrogryposis COL9A3 Alice Gardham marked COL9A3 as ready
Arthrogryposis Ellen McDonagh rejected panel
Arthrogryposis COL4A2 Alice Gardham marked COL4A2 as ready
Arthrogryposis CLCF1 Alice Gardham marked CLCF1 as ready
Arthrogryposis CLCF1 Alice Gardham marked CLCF1 as ready
Arthrogryposis CHCHD10 Alice Gardham marked CHCHD10 as ready
Arthrogryposis CAV3 Alice Gardham marked CAV3 as ready
Arthrogryposis CAPN3 Alice Gardham marked CAPN3 as ready
Arthrogryposis BICD2 Alice Gardham marked BICD2 as ready
Arthrogryposis ANO5 Alice Gardham marked ANO5 as ready
Arthrogryposis ALG14 Alice Gardham marked ALG14 as ready
Arthrogryposis AIMP1 Alice Gardham marked AIMP1 as ready
Arthrogryposis AGL Alice Gardham marked AGL as ready
Fetal hydrops Rebecca Foulger promoted panel to version 1
Arthrogryposis ADSL Alice Gardham marked ADSL as ready
Arthrogryposis ACADVL Alice Gardham marked ACADVL as ready
Arthrogryposis ACADS Alice Gardham marked ACADS as ready
Arthrogryposis ACADM Alice Gardham marked ACADM as ready
Arthrogryposis ABHD5 Alice Gardham marked ABHD5 as ready
Fetal hydrops SOS2 Rebecca Foulger commented on SOS2
Arthrogryposis ATP2A1 Alice Gardham marked ATP2A1 as ready
Arthrogryposis ATP2A1 Alice Gardham classified ATP2A1 as red
Arthrogryposis ATP2A1 Alice Gardham commented on ATP2A1
RASopathies LZTR1 Alice Gardham marked LZTR1 as ready
RASopathies LZTR1 Alice Gardham classified LZTR1 as green
RASopathies LZTR1 Alice Gardham reviewed LZTR1
Fetal hydrops SOS1 Rebecca Foulger commented on SOS1
Fetal hydrops SHOC2 Rebecca Foulger commented on SHOC2
Fetal hydrops RIT1 Rebecca Foulger commented on RIT1
Fetal hydrops RAF1 Rebecca Foulger commented on RAF1
Fetal hydrops PTPN11 Rebecca Foulger commented on PTPN11
RASopathies SOS2 Alice Gardham marked SOS2 as ready
Fetal hydrops NRAS Rebecca Foulger commented on NRAS
RASopathies SOS2 Alice Gardham classified SOS2 as green
RASopathies SOS2 Alice Gardham reviewed SOS2
Fetal hydrops MAP2K2 Rebecca Foulger commented on MAP2K2
Fetal hydrops MAP2K1 Rebecca Foulger commented on MAP2K1
Fetal hydrops KRAS Rebecca Foulger commented on KRAS
Fetal hydrops HRAS Rebecca Foulger commented on HRAS
Fetal hydrops BRAF Rebecca Foulger commented on BRAF
Arthrogryposis COL6A3 Alice Gardham marked COL6A3 as ready
Congenital muscular dystrophy Ellen McDonagh approved panel
Congenital muscular dystrophy Ellen McDonagh rejected panel
Arthrogryposis COL6A3 Alice Gardham reviewed COL6A3
Differences in sex development Sarah Leigh promoted panel to version 1
Arthrogryposis COL6A2 Alice Gardham marked COL6A2 as ready
Arthrogryposis COL6A2 Alice Gardham reviewed COL6A2
Arthrogryposis COL6A1 Alice Gardham marked COL6A1 as ready
Arthrogryposis COL6A1 Alice Gardham reviewed COL6A1
Arthrogryposis CHST14 Alice Gardham marked CHST14 as ready
Arthrogryposis CHST14 Alice Gardham classified CHST14 as green
Arthrogryposis CHST14 Alice Gardham reviewed CHST14
Fetal hydrops IDUA Rebecca Foulger classified IDUA as amber
Fetal hydrops PEX7 Rebecca Foulger classified PEX7 as green
Fetal hydrops PEX7 Rebecca Foulger commented on PEX7
Fetal hydrops PEX2 Rebecca Foulger classified PEX2 as green
Fetal hydrops PEX2 Rebecca Foulger commented on PEX2
Fetal hydrops PEX11B Rebecca Foulger classified PEX11B as green
Fetal hydrops PEX11B Rebecca Foulger commented on PEX11B
Fetal hydrops PEX6 Rebecca Foulger classified PEX6 as green
Fetal hydrops PEX6 Rebecca Foulger commented on PEX6
Fetal hydrops PEX5 Rebecca Foulger classified PEX5 as green
Fetal hydrops PEX5 Rebecca Foulger commented on PEX5
Fetal hydrops PEX26 Rebecca Foulger classified PEX26 as green
Fetal hydrops PEX26 Rebecca Foulger commented on PEX26
Fetal hydrops PEX19 Rebecca Foulger classified PEX19 as green
Fetal hydrops PEX19 Rebecca Foulger commented on PEX19
Fetal hydrops PEX16 Rebecca Foulger classified PEX16 as green
Fetal hydrops PEX16 Rebecca Foulger commented on PEX16
Fetal hydrops PEX14 Rebecca Foulger classified PEX14 as green
Fetal hydrops PEX14 Rebecca Foulger commented on PEX14
Fetal hydrops PEX13 Rebecca Foulger classified PEX13 as green
Fetal hydrops PEX13 Rebecca Foulger commented on PEX13
Fetal hydrops PEX12 Rebecca Foulger classified PEX12 as green
Fetal hydrops PEX12 Rebecca Foulger commented on PEX12
Fetal hydrops PEX10 Rebecca Foulger classified PEX10 as green
Fetal hydrops PEX10 Rebecca Foulger commented on PEX10
Fetal hydrops PEX1 Rebecca Foulger classified PEX1 as green
Fetal hydrops PEX1 Rebecca Foulger commented on PEX1
Arthrogryposis CHRNG Alice Gardham marked CHRNG as ready
Arthrogryposis CHRNG Alice Gardham reviewed CHRNG
Fetal hydrops IDUA Rebecca Foulger classified IDUA as green
RASopathies LZTR1 Ellen McDonagh added LZTR1 to panel
RASopathies LZTR1 Ellen McDonagh reviewed LZTR1
Fetal hydrops PEX3 Rebecca Foulger classified PEX3 as green
Fetal hydrops PEX3 Rebecca Foulger commented on PEX3
RASopathies SOS2 Ellen McDonagh added SOS2 to panel
RASopathies SOS2 Ellen McDonagh reviewed SOS2
Ocular and oculo-cutaneous albinism GNAI3 Ellen McDonagh reviewed GNAI3
Infantile nystagmus Ellen McDonagh promoted panel to version 1
Infantile nystagmus GNAI3 Ellen McDonagh marked GNAI3 as ready
Infantile nystagmus GNAI3 Ellen McDonagh classified GNAI3 as red
Infantile nystagmus GNAI3 Ellen McDonagh commented on GNAI3
Fetal hydrops IDUA Rebecca Foulger commented on IDUA
Arthrogryposis ACTA1 Alice Gardham classified ACTA1 as green
Arthrogryposis ACTA1 Alice Gardham marked ACTA1 as ready
Arthrogryposis ACTA1 Alice Gardham reviewed ACTA1
Fetal hydrops UROS Rebecca Foulger commented on UROS
Fetal hydrops AHCY Rebecca Foulger commented on AHCY
Fetal hydrops TALDO1 Rebecca Foulger commented on TALDO1
Fetal hydrops TALDO1 Rebecca Foulger commented on TALDO1
Fetal hydrops FH Rebecca Foulger commented on FH
Fetal hydrops EBP Rebecca Foulger commented on EBP
Fetal hydrops HADHA Rebecca Foulger commented on HADHA
Fetal hydrops ASAH1 Rebecca Foulger commented on ASAH1
Fetal hydrops LIPA Rebecca Foulger commented on LIPA
Fetal hydrops NPC1 Rebecca Foulger commented on NPC1
Fetal hydrops SMPD1 Rebecca Foulger commented on SMPD1
Fetal hydrops SLC17A5 Rebecca Foulger commented on SLC17A5
Fetal hydrops IDUA Rebecca Foulger commented on IDUA
Fetal hydrops SUMF1 Rebecca Foulger commented on SUMF1
Fetal hydrops DHCR7 Rebecca Foulger commented on DHCR7
Fetal hydrops GNPTAB Rebecca Foulger commented on GNPTAB
Fetal hydrops GLB1 Rebecca Foulger commented on GLB1
Fetal hydrops GLA Rebecca Foulger commented on GLA
Fetal hydrops GBA Rebecca Foulger commented on GBA
Fetal hydrops GALNS Rebecca Foulger commented on GALNS
Infantile nystagmus GNAI3 Ellen McDonagh added GNAI3 to panel
Infantile nystagmus GNAI3 Ellen McDonagh reviewed GNAI3
Fetal hydrops ALG1 Richard Choy edited their review of ALG1
Fetal hydrops ALG1 Richard Choy reviewed ALG1
Intracerebral calcification disorders Ellen McDonagh promoted panel to version 1
Intracerebral calcification disorders USP18 Ellen Thomas marked USP18 as ready
Intracerebral calcification disorders USP18 Ellen Thomas classified USP18 as green
Intracerebral calcification disorders USP18 Ellen Thomas added USP18 to panel
Intracerebral calcification disorders USP18 Ellen Thomas reviewed USP18
Intracerebral calcification disorders TREM2 Ellen Thomas marked TREM2 as ready
Intracerebral calcification disorders TREM2 Ellen Thomas classified TREM2 as green
Rare multisystem ciliopathy disorders CEP120 Richard Scott marked CEP120 as ready
Intracerebral calcification disorders SLC20A2 Ellen Thomas marked SLC20A2 as ready
Intracerebral calcification disorders SLC20A2 Ellen Thomas classified SLC20A2 as green
Intracerebral calcification disorders SLC20A2 Ellen Thomas commented on SLC20A2
Rare multisystem ciliopathy disorders CEP120 Richard Scott reviewed CEP120
Rare multisystem ciliopathy disorders CCDC28B Richard Scott marked CCDC28B as ready
Rare multisystem ciliopathy disorders CCDC28B Richard Scott classified CCDC28B as red
Clefting COL2A1 Louise Daugherty classified COL2A1 as green
Intracerebral calcification disorders ERCC6 Ellen Thomas classified ERCC6 as red
Intracerebral calcification disorders ERCC6 Ellen Thomas commented on ERCC6
Congenital disorders of glycosylation Sarah Leigh promoted panel to version 1
Congenital disorders of glycosylation SLC35A3 Sarah Leigh marked SLC35A3 as ready
Congenital disorders of glycosylation SLC35A3 Sarah Leigh commented on SLC35A3
Clefting COL2A1 Louise Daugherty commented on COL2A1
Intracerebral calcification disorders JAM3 Ellen Thomas marked JAM3 as ready
Congenital disorders of glycosylation SLC35A3 Sarah Leigh classified SLC35A3 as red
Intracerebral calcification disorders JAM3 Ellen Thomas classified JAM3 as green
Congenital disorders of glycosylation XYLT2 Sarah Leigh marked XYLT2 as ready
Congenital disorders of glycosylation XYLT2 Sarah Leigh classified XYLT2 as green
Congenital disorders of glycosylation XYLT2 Sarah Leigh commented on XYLT2
Rare multisystem ciliopathy disorders BBIP1 Richard Scott classified BBIP1 as red
Rare multisystem ciliopathy disorders BBIP1 Richard Scott classified BBIP1 as red
Rare multisystem ciliopathy disorders BBIP1 Richard Scott commented on BBIP1
Clefting COL11A2 Louise Daugherty classified COL11A2 as green
Congenital disorders of glycosylation XYLT1 Sarah Leigh marked XYLT1 as ready
Intracerebral calcification disorders CYP2U1 Ellen Thomas marked CYP2U1 as ready
Intracerebral calcification disorders CYP2U1 Ellen Thomas classified CYP2U1 as green
Intracerebral calcification disorders CYP2U1 Ellen Thomas commented on CYP2U1
Congenital disorders of glycosylation XYLT1 Sarah Leigh commented on XYLT1
Intracerebral calcification disorders AP1S2 Ellen Thomas marked AP1S2 as ready
Congenital disorders of glycosylation XYLT1 Sarah Leigh classified XYLT1 as green
Clefting COL11A2 Louise Daugherty commented on COL11A2
Intracerebral calcification disorders AP1S2 Ellen Thomas classified AP1S2 as green
Intracerebral calcification disorders AP1S2 Ellen Thomas commented on AP1S2
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh marked TRAPPC11 as ready
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh commented on TRAPPC11
Congenital disorders of glycosylation TRAPPC11 Sarah Leigh classified TRAPPC11 as red
Clefting TBX22 Louise Daugherty classified TBX22 as green
Clefting TBX22 Louise Daugherty commented on TBX22
Sudden death in young people Ellen Thomas promoted panel to version 1
Congenital disorders of glycosylation TMEM5 Sarah Leigh marked TMEM5 as ready
Congenital disorders of glycosylation TMEM5 Sarah Leigh commented on TMEM5
Congenital disorders of glycosylation TMEM5 Sarah Leigh classified TMEM5 as green
Clefting SUMO1 Louise Daugherty classified SUMO1 as red
Clefting SUMO1 Louise Daugherty commented on SUMO1
Sudden death in young people PPA2 Ellen Thomas classified PPA2 as green
Sudden death in young people PPA2 Ellen Thomas commented on PPA2
Congenital disorders of glycosylation POMGNT2 Sarah Leigh marked POMGNT2 as ready
Congenital disorders of glycosylation POMGNT2 Sarah Leigh commented on POMGNT2
Congenital disorders of glycosylation POMGNT2 Sarah Leigh classified POMGNT2 as green
Congenital disorders of glycosylation PIGW Sarah Leigh marked PIGW as ready
Congenital disorders of glycosylation PIGW Sarah Leigh commented on PIGW
Sudden death in young people MT-TL1 Ellen Thomas classified MT-TL1 as grey
Sudden death in young people MT-TL1 Ellen Thomas commented on MT-TL1
Clefting SATB2 Louise Daugherty classified SATB2 as green
Clefting SATB2 Louise Daugherty commented on SATB2
Sudden death in young people MT-ND1 Ellen Thomas classified MT-ND1 as grey
Sudden death in young people MT-ND1 Ellen Thomas commented on MT-ND1
Rare multisystem ciliopathy disorders B9D1 Richard Scott marked B9D1 as ready
Rare multisystem ciliopathy disorders B9D1 Richard Scott classified B9D1 as red
Rare multisystem ciliopathy disorders B9D1 Richard Scott classified B9D1 as red
Congenital disorders of glycosylation PIGW Sarah Leigh classified PIGW as red
Rare multisystem ciliopathy disorders B9D1 Richard Scott reviewed B9D1
Sudden death in young people KCND3 Ellen Thomas marked KCND3 as ready
Congenital disorders of glycosylation PIGT Sarah Leigh marked PIGT as ready
Infantile nystagmus MT-ND6 Alice Gardham marked MT-ND6 as ready
Rare multisystem ciliopathy disorders ATXN10 Richard Scott classified ATXN10 as red
Rare multisystem ciliopathy disorders ATXN10 Richard Scott reviewed ATXN10
Infantile nystagmus SLC24A5 Alice Gardham marked SLC24A5 as ready
Infantile nystagmus C10orf11 Alice Gardham marked C10orf11 as ready
Rare multisystem ciliopathy disorders ANKS6 Richard Scott marked ANKS6 as ready
Rare multisystem ciliopathy disorders ANKS6 Richard Scott classified ANKS6 as green
Congenital disorders of glycosylation PIGT Sarah Leigh commented on PIGT
Rare multisystem ciliopathy disorders ANKS6 Richard Scott reviewed ANKS6
Infantile nystagmus SLC45A2 Alice Gardham marked SLC45A2 as ready
Congenital disorders of glycosylation PIGT Sarah Leigh classified PIGT as red
Sudden death in young people KCND2 Ellen Thomas marked KCND2 as ready
Sudden death in young people KCND2 Ellen Thomas classified KCND2 as red
Sudden death in young people KCND2 Ellen Thomas commented on KCND2
Infantile nystagmus LYST Alice Gardham marked LYST as ready
Congenital disorders of glycosylation PGM3 Sarah Leigh marked PGM3 as ready
Congenital disorders of glycosylation PGM3 Sarah Leigh commented on PGM3
Congenital disorders of glycosylation PGM3 Sarah Leigh classified PGM3 as green
Sudden death in young people GDNF Ellen Thomas marked GDNF as ready
Sudden death in young people GDNF Ellen Thomas classified GDNF as red
Sudden death in young people GDNF Ellen Thomas commented on GDNF
Infantile nystagmus OCA2 Alice Gardham marked OCA2 as ready
Clefting PVRL1 Louise Daugherty classified PVRL1 as green
Infantile nystagmus TYRP1 Alice Gardham marked TYRP1 as ready
Congenital disorders of glycosylation PGAP3 Sarah Leigh marked PGAP3 as ready
Congenital disorders of glycosylation PGAP3 Sarah Leigh commented on PGAP3
Sudden death in young people EDN3 Ellen Thomas marked EDN3 as ready
Sudden death in young people EDN3 Ellen Thomas classified EDN3 as red
Sudden death in young people EDN3 Ellen Thomas commented on EDN3
Infantile nystagmus TYR Alice Gardham marked TYR as ready
Congenital disorders of glycosylation PGAP3 Sarah Leigh classified PGAP3 as green
Infantile nystagmus MT-ND2 Alice Gardham marked MT-ND2 as ready
Infantile nystagmus MT-CYB Alice Gardham marked MT-CYB as ready
Sudden death in young people CACNA2D1 Ellen Thomas marked CACNA2D1 as ready
Infantile nystagmus MT-CO3 Alice Gardham marked MT-CO3 as ready
Sudden death in young people CACNA2D1 Ellen Thomas classified CACNA2D1 as red
Sudden death in young people CACNA2D1 Ellen Thomas commented on CACNA2D1
Infantile nystagmus MT-CO1 Alice Gardham marked MT-CO1 as ready
Congenital disorders of glycosylation ISPD Sarah Leigh commented on ISPD
Congenital disorders of glycosylation ISPD Sarah Leigh marked ISPD as ready
Congenital disorders of glycosylation ISPD Sarah Leigh classified ISPD as green
Infantile nystagmus MT-ATP6 Alice Gardham marked MT-ATP6 as ready
Infantile nystagmus DGUOK Alice Gardham marked DGUOK as ready
Infantile nystagmus MT-ND6 Alice Gardham marked MT-ND6 as ready
Sudden death in young people BDNF Ellen Thomas marked BDNF as ready
Sudden death in young people BDNF Ellen Thomas commented on BDNF
Sudden death in young people BDNF Ellen Thomas classified BDNF as red
Rare multisystem ciliopathy disorders PKD1 Richard Scott marked PKD1 as ready
Rare multisystem ciliopathy disorders PKD1 Richard Scott classified PKD1 as green
Rare multisystem ciliopathy disorders PKD1 Richard Scott reviewed PKD1
Sudden death in young people ASCL1 Ellen Thomas marked ASCL1 as ready
Sudden death in young people ASCL1 Ellen Thomas commented on ASCL1
Sudden death in young people ASCL1 Ellen Thomas classified ASCL1 as red
Congenital disorders of glycosylation GORAB Sarah Leigh marked GORAB as ready
Congenital disorders of glycosylation GORAB Sarah Leigh commented on GORAB
Clefting BMP4 Louise Daugherty commented on BMP4
Congenital disorders of glycosylation GORAB Sarah Leigh classified GORAB as red
Sudden death in young people ACADM Ellen Thomas classified ACADM as grey
Sudden death in young people ACADM Ellen Thomas commented on ACADM
Sudden death in young people PHOX2B Ellen Thomas marked PHOX2B as ready
Sudden death in young people PHOX2B Ellen Thomas classified PHOX2B as green
Sudden death in young people PHOX2B Ellen Thomas commented on PHOX2B
Congenital disorders of glycosylation GMPPB Sarah Leigh classified GMPPB as green
Congenital disorders of glycosylation GMPPB Sarah Leigh marked GMPPB as ready
Congenital disorders of glycosylation GMPPB Sarah Leigh commented on GMPPB
Infantile nystagmus GPR143 Alice Gardham marked GPR143 as ready
Infantile nystagmus GPR143 Alice Gardham classified GPR143 as green
Infantile nystagmus GPR143 Alice Gardham commented on GPR143
Infantile nystagmus CACNA1A Alice Gardham marked CACNA1A as ready
Infantile nystagmus CACNA1A Alice Gardham classified CACNA1A as green
Infantile nystagmus CACNA1A Alice Gardham commented on CACNA1A
Infantile nystagmus FRMD7 Alice Gardham marked FRMD7 as ready
Congenital disorders of glycosylation COG2 Sarah Leigh marked COG2 as ready
Congenital disorders of glycosylation COG2 Sarah Leigh commented on COG2
Congenital disorders of glycosylation COG2 Sarah Leigh classified COG2 as red
Congenital disorders of glycosylation B3GALT6 Sarah Leigh classified B3GALT6 as green
Congenital disorders of glycosylation B3GALT6 Sarah Leigh marked B3GALT6 as ready
Congenital disorders of glycosylation B3GALT6 Sarah Leigh commented on B3GALT6
Sudden death in young people KCNJ8 Ellen Thomas classified KCNJ8 as amber
Sudden death in young people KCNJ8 Ellen Thomas commented on KCNJ8
Congenital muscular dystrophy B4GAT1 Ellen McDonagh classified B4GAT1 as green
Congenital muscular dystrophy B4GAT1 Ellen McDonagh commented on B4GAT1
Cerebral vascular malformations Alice Gardham promoted panel to version 1
Amyotrophic lateral sclerosis/motor neuron disease Alice Gardham promoted panel to version 1
Amyotrophic lateral sclerosis/motor neuron disease NEFH Alice Gardham marked NEFH as ready
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh marked B3GALNT2 as ready
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh commented on B3GALNT2
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh classified B3GALNT2 as green
Kleine-Levin syndrome TRPV4 Rosa Peraita-Adrados edited their review of TRPV4
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Alice Gardham marked SIGMAR1 as ready
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Alice Gardham commented on SIGMAR1
Sudden death in young people AARS2 Ellen Thomas classified AARS2 as grey
Sudden death in young people AARS2 Ellen Thomas commented on AARS2
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Alice Gardham classified SIGMAR1 as green
Kleine-Levin syndrome TRPV4 Rosa Peraita-Adrados added TRPV4 to panel
Kleine-Levin syndrome TRPV4 Rosa Peraita-Adrados reviewed TRPV4
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Alice Gardham marked SLC52A1 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Alice Gardham commented on SLC52A1
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Alice Gardham classified SLC52A1 as red
Congenital disorders of glycosylation ATP6AP1 Sarah Leigh marked ATP6AP1 as ready
Congenital disorders of glycosylation ATP6AP1 Sarah Leigh commented on ATP6AP1
Congenital disorders of glycosylation ATP6AP1 Sarah Leigh classified ATP6AP1 as green
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham marked TBK1 as ready
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham classified TBK1 as green
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham marked SLC52A3 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham classified SLC52A3 as green
Inherited bleeding disorders Louise Daugherty promoted panel to version 1
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham marked SLC52A2 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham classified SLC52A2 as green
Congenital disorders of glycosylation ST3GAL3 Sarah Leigh marked ST3GAL3 as ready
Amyotrophic lateral sclerosis/motor neuron disease SETX Alice Gardham marked SETX as ready
Amyotrophic lateral sclerosis/motor neuron disease SETX Alice Gardham classified SETX as green
Congenital disorders of glycosylation ST3GAL3 Sarah Leigh commented on ST3GAL3
Cerebral vascular malformations RNF213 Ellen Thomas marked RNF213 as ready
Cerebral vascular malformations GNAQ Ellen Thomas marked GNAQ as ready
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham marked PFN1 as ready
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham classified PFN1 as green
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham marked HNRNPA1 as ready
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham classified HNRNPA1 as green
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham commented on HNRNPA1
Cerebral vascular malformations ELN Ellen Thomas marked ELN as ready
Congenital disorders of glycosylation TMEM199 Sarah Leigh marked TMEM199 as ready
Congenital disorders of glycosylation TMEM199 Sarah Leigh commented on TMEM199
Cerebral vascular malformations ELN Ellen Thomas classified ELN as green
Cerebral vascular malformations ELN Ellen Thomas commented on ELN
Fetal hydrops CTSA Rebecca Foulger marked CTSA as ready
Fetal hydrops HBA2 Rebecca Foulger marked HBA2 as ready
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham marked ERBB4 as ready
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham classified ERBB4 as red
Kleine-Levin syndrome MOG Rosa Peraita-Adrados reviewed MOG
Cerebral vascular malformations CECR1 Ellen Thomas marked CECR1 as ready
Cerebral vascular malformations CECR1 Ellen Thomas classified CECR1 as green
Cerebral vascular malformations CECR1 Ellen Thomas commented on CECR1
Congenital disorders of glycosylation STT3A Sarah Leigh marked STT3A as ready
Congenital disorders of glycosylation STT3A Sarah Leigh commented on STT3A
Congenital disorders of glycosylation STT3A Sarah Leigh classified STT3A as amber
Congenital disorders of glycosylation SSR4 Sarah Leigh marked SSR4 as ready
Congenital disorders of glycosylation SSR4 Sarah Leigh commented on SSR4
Fetal hydrops HBA2 Rebecca Foulger classified HBA2 as green
Malformations of cortical development Ellen McDonagh approved panel
Fetal hydrops HBA2 Rebecca Foulger commented on HBA2
Congenital disorders of glycosylation SSR4 Sarah Leigh classified SSR4 as green
Fetal hydrops HBA2 Rebecca Foulger edited their review of HBA2
Congenital disorders of glycosylation SLC39A8 Sarah Leigh marked SLC39A8 as ready
Congenital disorders of glycosylation SLC39A8 Sarah Leigh commented on SLC39A8
Malformations of cortical development TUBB3 Alice Gardham classified TUBB3 as green
Malformations of cortical development TUBB3 Alice Gardham commented on TUBB3
Malformations of cortical development TUBB3 Alice Gardham classified TUBB3 as green
Malformations of cortical development B3GALNT2 Alice Gardham marked B3GALNT2 as ready
Malformations of cortical development B3GALNT2 Alice Gardham classified B3GALNT2 as green
Malformations of cortical development B3GALNT2 Alice Gardham added B3GALNT2 to panel
Malformations of cortical development B3GALNT2 Alice Gardham reviewed B3GALNT2
Congenital disorders of glycosylation PIGN Sarah Leigh marked PIGN as ready
Congenital disorders of glycosylation PIGN Sarah Leigh commented on PIGN
Congenital muscular dystrophy TMEM5 Ellen McDonagh marked TMEM5 as ready
Congenital muscular dystrophy TMEM5 Ellen McDonagh classified TMEM5 as green
Congenital muscular dystrophy TMEM5 Ellen McDonagh commented on TMEM5
Malformations of cortical development GMPPB Alice Gardham marked GMPPB as ready
Malformations of cortical development GMPPB Alice Gardham added GMPPB to panel
Malformations of cortical development GMPPB Alice Gardham reviewed GMPPB
Fetal hydrops HBA1 Rebecca Foulger classified HBA1 as green
Cerebral vascular malformations SLC2A10 Ellen Thomas marked SLC2A10 as ready
Congenital disorders of glycosylation PIGM Sarah Leigh marked PIGM as ready
Congenital disorders of glycosylation PIGM Sarah Leigh commented on PIGM
Cerebral vascular malformations SLC2A10 Ellen Thomas commented on SLC2A10
Cerebral vascular malformations SLC2A10 Ellen Thomas classified SLC2A10 as green
Congenital muscular dystrophy SYNE2 Ellen McDonagh marked SYNE2 as ready
Fetal hydrops HBA1 Rebecca Foulger edited their review of HBA1
Congenital muscular dystrophy SYNE2 Ellen McDonagh classified SYNE2 as red
Congenital muscular dystrophy SYNE2 Ellen McDonagh commented on SYNE2
Malformations of cortical development TMEM5 Alice Gardham marked TMEM5 as ready
Malformations of cortical development TMEM5 Alice Gardham added TMEM5 to panel
Malformations of cortical development TMEM5 Alice Gardham reviewed TMEM5
Cerebral vascular malformations GDF2 Ellen Thomas classified GDF2 as amber
Cerebral vascular malformations GDF2 Ellen Thomas commented on GDF2
Congenital disorders of glycosylation PIGM Sarah Leigh classified PIGM as amber
Malformations of cortical development B4GAT1 Alice Gardham marked B4GAT1 as ready
Malformations of cortical development B4GAT1 Alice Gardham added B4GAT1 to panel
Malformations of cortical development B4GAT1 Alice Gardham reviewed B4GAT1
Cerebral vascular malformations FLVCR2 Ellen Thomas marked FLVCR2 as ready
Cerebral vascular malformations FLVCR2 Ellen Thomas classified FLVCR2 as green
Cerebral vascular malformations FLVCR2 Ellen Thomas commented on FLVCR2
Congenital disorders of glycosylation CCDC115 Sarah Leigh marked CCDC115 as ready
Congenital disorders of glycosylation CCDC115 Sarah Leigh commented on CCDC115
Congenital disorders of glycosylation CCDC115 Sarah Leigh classified CCDC115 as green
Fetal hydrops CTSA Rebecca Foulger classified CTSA as green
Severe multi-system atopic disease with high IgE Ellen Thomas promoted panel to version 1
Congenital disorders of glycosylation ALG14 Sarah Leigh marked ALG14 as ready
Congenital disorders of glycosylation ALG14 Sarah Leigh commented on ALG14
Severe multi-system atopic disease with high IgE PGM3 Ellen Thomas marked PGM3 as ready
Severe multi-system atopic disease with high IgE PGM3 Ellen Thomas classified PGM3 as green
Malformations of cortical development DAG1 Alice Gardham marked DAG1 as ready
Severe multi-system atopic disease with high IgE PGM3 Ellen Thomas added PGM3 to panel
Severe multi-system atopic disease with high IgE PGM3 Ellen Thomas reviewed PGM3
Malformations of cortical development DAG1 Alice Gardham added DAG1 to panel
Malformations of cortical development DAG1 Alice Gardham reviewed DAG1
Fetal hydrops CTSA Rebecca Foulger commented on CTSA
Malformations of cortical development POMGNT2 Alice Gardham marked POMGNT2 as ready
Malformations of cortical development POMGNT2 Alice Gardham added POMGNT2 to panel
Malformations of cortical development POMGNT2 Alice Gardham reviewed POMGNT2
Congenital disorders of glycosylation SLC35A2 Sarah Leigh marked SLC35A2 as ready
Congenital disorders of glycosylation SLC35A2 Sarah Leigh commented on SLC35A2
Malformations of cortical development POMK Alice Gardham marked POMK as ready
Malformations of cortical development POMK Alice Gardham added POMK to panel
Malformations of cortical development POMK Alice Gardham reviewed POMK
Malformations of cortical development ASPM Alice Gardham marked ASPM as ready
Malformations of cortical development ASPM Alice Gardham added ASPM to panel
Malformations of cortical development ASPM Alice Gardham reviewed ASPM
Severe multi-system atopic disease with high IgE SPINK5 Ellen Thomas marked SPINK5 as ready
Pityriasis rubra pilaris Ellen McDonagh promoted panel to version 1
Severe multi-system atopic disease with high IgE SPINK5 Ellen Thomas classified SPINK5 as green
Severe multi-system atopic disease with high IgE SPINK5 Ellen Thomas commented on SPINK5
Malformations of cortical development KIAA1279 Alice Gardham marked KIAA1279 as ready
Fetal hydrops CCBE1 Rebecca Foulger marked CCBE1 as ready
Fetal hydrops CCBE1 Rebecca Foulger classified CCBE1 as green
Malformations of cortical development KIAA1279 Alice Gardham added KIAA1279 to panel
Malformations of cortical development KIAA1279 Alice Gardham reviewed KIAA1279
Pityriasis rubra pilaris CARD14 Ellen McDonagh classified CARD14 as green
Fetal hydrops CBL Rebecca Foulger marked CBL as ready
Fetal hydrops NEU1 Rebecca Foulger marked NEU1 as ready
Severe multi-system atopic disease with high IgE STAT3 Ellen Thomas marked STAT3 as ready
Severe multi-system atopic disease with high IgE STAT3 Ellen Thomas commented on STAT3
Malformations of cortical development GPSM2 Alice Gardham marked GPSM2 as ready
Malformations of cortical development GPSM2 Alice Gardham classified GPSM2 as green
Congenital disorders of glycosylation MAGT1 Sarah Leigh marked MAGT1 as ready
Congenital disorders of glycosylation MAGT1 Sarah Leigh commented on MAGT1
Malformations of cortical development GPSM2 Alice Gardham added GPSM2 to panel
Malformations of cortical development GPSM2 Alice Gardham reviewed GPSM2
Severe multi-system atopic disease with high IgE DOCK8 Ellen Thomas marked DOCK8 as ready
Congenital disorders of glycosylation MAGT1 Sarah Leigh classified MAGT1 as red
Congenital disorders of glycosylation CHSY1 Sarah Leigh marked CHSY1 as ready
Congenital disorders of glycosylation CHSY1 Sarah Leigh commented on CHSY1
Congenital disorders of glycosylation CHSY1 Sarah Leigh classified CHSY1 as green
Congenital disorders of glycosylation CHST14 Sarah Leigh marked CHST14 as ready
Congenital disorders of glycosylation CHST14 Sarah Leigh commented on CHST14
Congenital disorders of glycosylation CHST14 Sarah Leigh classified CHST14 as green
Congenital disorders of glycosylation C1GALT1C1 Sarah Leigh marked C1GALT1C1 as ready
Congenital disorders of glycosylation C1GALT1C1 Sarah Leigh commented on C1GALT1C1
Congenital muscular dystrophy SMCHD1 Ellen McDonagh marked SMCHD1 as ready
Congenital muscular dystrophy SMCHD1 Ellen McDonagh classified SMCHD1 as red
Congenital muscular dystrophy SMCHD1 Ellen McDonagh classified SMCHD1 as amber
Congenital muscular dystrophy SMCHD1 Ellen McDonagh commented on SMCHD1
Congenital muscular dystrophy POMGNT2 Ellen McDonagh marked POMGNT2 as ready
Congenital muscular dystrophy POMGNT2 Ellen McDonagh classified POMGNT2 as green
Congenital muscular dystrophy POMGNT2 Ellen McDonagh classified POMGNT2 as amber
Congenital muscular dystrophy POMGNT2 Ellen McDonagh commented on POMGNT2
Congenital muscular dystrophy B3GALNT2 Ellen McDonagh marked B3GALNT2 as ready
Congenital muscular dystrophy B3GALNT2 Ellen McDonagh classified B3GALNT2 as green
Congenital muscular dystrophy B3GALNT2 Ellen McDonagh commented on B3GALNT2
Congenital disorders of glycosylation C1GALT1C1 Sarah Leigh classified C1GALT1C1 as red
Congenital disorders of glycosylation B3GAT3 Sarah Leigh marked B3GAT3 as ready
Congenital disorders of glycosylation B3GAT3 Sarah Leigh commented on B3GAT3
Congenital disorders of glycosylation B3GAT3 Sarah Leigh classified B3GAT3 as green
Malformations of cortical development TUBA1A Alice Gardham marked TUBA1A as ready
Malformations of cortical development PAFAH1B1 Alice Gardham marked PAFAH1B1 as ready
Malformations of cortical development NDE1 Alice Gardham marked NDE1 as ready
Congenital disorders of glycosylation TUSC3 Sarah Leigh marked TUSC3 as ready
Malformations of cortical development KATNB1 Alice Gardham marked KATNB1 as ready
Malformations of cortical development FLNA Alice Gardham marked FLNA as ready
Malformations of cortical development DCX Alice Gardham marked DCX as ready
Congenital muscular dystrophy ANO5 Ellen McDonagh marked ANO5 as ready
Congenital muscular dystrophy ANO5 Ellen McDonagh commented on ANO5
Congenital muscular dystrophy ANO5 Ellen McDonagh classified ANO5 as red
Malformations of cortical development ARX Alice Gardham marked ARX as ready
Congenital muscular dystrophy PABPN1 Ellen McDonagh marked PABPN1 as ready
Congenital muscular dystrophy PABPN1 Ellen McDonagh classified PABPN1 as red
Congenital muscular dystrophy PABPN1 Ellen McDonagh commented on PABPN1
Congenital disorders of glycosylation TUSC3 Sarah Leigh commented on TUSC3
Malformations of cortical development ADGRG1 Alice Gardham marked ADGRG1 as ready
Congenital muscular dystrophy EMD Ellen McDonagh classified EMD as amber
Congenital muscular dystrophy EMD Ellen McDonagh commented on EMD
Fetal hydrops HBZ Rebecca Foulger marked HBZ as ready
Fetal hydrops HBZ Rebecca Foulger classified HBZ as red
Congenital disorders of glycosylation TMEM165 Sarah Leigh marked TMEM165 as ready
Congenital disorders of glycosylation TMEM165 Sarah Leigh commented on TMEM165
Congenital disorders of glycosylation ST3GAL5 Sarah Leigh marked ST3GAL5 as ready
Congenital disorders of glycosylation ST3GAL5 Sarah Leigh commented on ST3GAL5
Malformations of cortical development RTTN Alice Gardham marked RTTN as ready
Malformations of cortical development RTTN Alice Gardham added RTTN to panel
Malformations of cortical development RTTN Alice Gardham reviewed RTTN
Fetal hydrops CTSA Rebecca Foulger commented on CTSA
Congenital disorders of glycosylation SRD5A3 Sarah Leigh marked SRD5A3 as ready
Congenital disorders of glycosylation SRD5A3 Sarah Leigh commented on SRD5A3
Malformations of cortical development OCLN Alice Gardham marked OCLN as ready
Malformations of cortical development OCLN Alice Gardham classified OCLN as green
Malformations of cortical development OCLN Alice Gardham added OCLN to panel
Malformations of cortical development OCLN Alice Gardham reviewed OCLN
Congenital disorders of glycosylation SLC35D1 Sarah Leigh marked SLC35D1 as ready
Congenital disorders of glycosylation SLC35D1 Sarah Leigh commented on SLC35D1
Fetal hydrops CTSA Rebecca Foulger commented on CTSA
Congenital disorders of glycosylation SLC35C1 Sarah Leigh marked SLC35C1 as ready
Congenital disorders of glycosylation SLC35C1 Sarah Leigh commented on SLC35C1
Congenital muscular dystrophy ACTA1 Emma Clement commented on ACTA1
Congenital muscular dystrophy COL4A2 Emma Clement commented on COL4A2
Congenital muscular dystrophy COL4A1 Emma Clement commented on COL4A1
Fetal hydrops CTSA Rebecca Foulger commented on CTSA
Congenital muscular dystrophy ACTA1 Emma Clement reviewed ACTA1
Congenital muscular dystrophy COL4A2 Emma Clement reviewed COL4A2
Congenital muscular dystrophy COL4A1 Emma Clement reviewed COL4A1
Congenital muscular dystrophy MICU1 Emma Clement reviewed MICU1
Congenital muscular dystrophy DOLK Emma Clement reviewed DOLK
Congenital muscular dystrophy COL12A1 Emma Clement reviewed COL12A1
Congenital disorders of glycosylation SLC35A1 Sarah Leigh commented on SLC35A1
Congenital disorders of glycosylation SLC35A1 Sarah Leigh marked SLC35A1 as ready
Congenital disorders of glycosylation SLC35A1 Sarah Leigh classified SLC35A1 as amber
Malformations of cortical development ISPD Alice Gardham marked ISPD as ready
Malformations of cortical development ISPD Alice Gardham added ISPD to panel
Malformations of cortical development ISPD Alice Gardham reviewed ISPD
Malformations of cortical development FKTN Alice Gardham marked FKTN as ready
Congenital muscular dystrophy TMEM43 Emma Clement reviewed TMEM43
Congenital muscular dystrophy TCAP Emma Clement reviewed TCAP
Congenital muscular dystrophy RYR1 Emma Clement reviewed RYR1
Congenital muscular dystrophy POMK Emma Clement reviewed POMK
Congenital muscular dystrophy PLEC Emma Clement reviewed PLEC
Congenital muscular dystrophy GMPPB Emma Clement reviewed GMPPB
Congenital muscular dystrophy DUX4 Emma Clement reviewed DUX4
Congenital muscular dystrophy DPM3 Emma Clement reviewed DPM3
Congenital muscular dystrophy DPM2 Emma Clement reviewed DPM2
Congenital muscular dystrophy DPM1 Emma Clement reviewed DPM1
Congenital muscular dystrophy B4GAT1 Emma Clement reviewed B4GAT1
Congenital muscular dystrophy TMEM5 Emma Clement reviewed TMEM5
Congenital muscular dystrophy SYNE2 Emma Clement reviewed SYNE2
Congenital muscular dystrophy SYNE1 Emma Clement reviewed SYNE1
Congenital muscular dystrophy SMCHD1 Emma Clement reviewed SMCHD1
Congenital muscular dystrophy POMGNT2 Emma Clement reviewed POMGNT2
Congenital muscular dystrophy DYSF Emma Clement reviewed DYSF
Congenital muscular dystrophy B3GALNT2 Emma Clement reviewed B3GALNT2
Congenital muscular dystrophy ANO5 Emma Clement reviewed ANO5
Congenital muscular dystrophy DAG1 Emma Clement reviewed DAG1
Congenital muscular dystrophy SEPN1 Emma Clement reviewed SEPN1
Congenital muscular dystrophy POMT2 Emma Clement reviewed POMT2
Congenital muscular dystrophy POMT1 Emma Clement reviewed POMT1
Congenital muscular dystrophy POMGNT1 Emma Clement reviewed POMGNT1
Congenital muscular dystrophy PABPN1 Emma Clement reviewed PABPN1
Congenital muscular dystrophy LMNA Emma Clement reviewed LMNA
Congenital muscular dystrophy LARGE Emma Clement reviewed LARGE
Congenital muscular dystrophy LAMA2 Emma Clement reviewed LAMA2
Congenital muscular dystrophy ITGA7 Emma Clement reviewed ITGA7
Congenital muscular dystrophy ISPD Emma Clement reviewed ISPD
Congenital muscular dystrophy FKTN Emma Clement reviewed FKTN
Congenital muscular dystrophy FKRP Emma Clement reviewed FKRP
Congenital muscular dystrophy EMD Emma Clement reviewed EMD
Congenital muscular dystrophy DMD Emma Clement reviewed DMD
Congenital muscular dystrophy COL6A3 Emma Clement reviewed COL6A3
Congenital muscular dystrophy COL6A2 Emma Clement reviewed COL6A2
Congenital muscular dystrophy COL6A1 Emma Clement reviewed COL6A1
Congenital muscular dystrophy CHKB Emma Clement reviewed CHKB
Malformations of cortical development FKTN Alice Gardham added FKTN to panel
Malformations of cortical development FKTN Alice Gardham reviewed FKTN
Fetal hydrops CCBE1 Rebecca Foulger commented on CCBE1
Fetal hydrops LBR Rebecca Foulger marked LBR as ready
Fetal hydrops LBR Rebecca Foulger classified LBR as green
Congenital disorders of glycosylation SEC23B Sarah Leigh marked SEC23B as ready
Malformations of cortical development ERMARD Alice Gardham marked ERMARD as ready
Malformations of cortical development ERMARD Alice Gardham added ERMARD to panel
Malformations of cortical development ERMARD Alice Gardham reviewed ERMARD
Congenital disorders of glycosylation SEC23B Sarah Leigh commented on SEC23B
Fetal hydrops LARS2 Rebecca Foulger marked LARS2 as ready
Congenital disorders of glycosylation RFT1 Sarah Leigh marked RFT1 as ready
Congenital disorders of glycosylation RFT1 Sarah Leigh commented on RFT1
Malformations of cortical development CCND2 Alice Gardham marked CCND2 as ready
Malformations of cortical development CCND2 Alice Gardham classified CCND2 as green
Malformations of cortical development CCND2 Alice Gardham added CCND2 to panel
Malformations of cortical development CCND2 Alice Gardham reviewed CCND2
Fetal hydrops DMPK Rebecca Foulger marked DMPK as ready
Congenital disorders of glycosylation POMT2 Sarah Leigh marked POMT2 as ready
Congenital disorders of glycosylation POMT2 Sarah Leigh commented on POMT2
Fetal hydrops CBL Rebecca Foulger commented on CBL
Inherited bleeding disorders VWF Louise Daugherty reviewed VWF
Inherited bleeding disorders VPS33B Louise Daugherty reviewed VPS33B
Inherited bleeding disorders VKORC1 Louise Daugherty reviewed VKORC1
Inherited bleeding disorders VIPAS39 Louise Daugherty reviewed VIPAS39
Inherited bleeding disorders TUBB1 Louise Daugherty reviewed TUBB1
Inherited bleeding disorders THPO Louise Daugherty reviewed THPO
Inherited bleeding disorders THBD Louise Daugherty reviewed THBD
Inherited bleeding disorders TBXAS1 Louise Daugherty reviewed TBXAS1
Inherited bleeding disorders TBXA2R Louise Daugherty reviewed TBXA2R
Inherited bleeding disorders STXBP2 Louise Daugherty reviewed STXBP2
Inherited bleeding disorders STIM1 Louise Daugherty reviewed STIM1
Inherited bleeding disorders SLFN14 Louise Daugherty reviewed SLFN14
Inherited bleeding disorders SLC45A2 Louise Daugherty reviewed SLC45A2
Inherited bleeding disorders SERPINF2 Louise Daugherty reviewed SERPINF2
Inherited bleeding disorders SERPINE1 Louise Daugherty reviewed SERPINE1
Inherited bleeding disorders SERPIND1 Louise Daugherty reviewed SERPIND1
Inherited bleeding disorders SERPINC1 Louise Daugherty reviewed SERPINC1
Inherited bleeding disorders RUNX1 Louise Daugherty reviewed RUNX1
Inherited bleeding disorders RBM8A Louise Daugherty reviewed RBM8A
Inherited bleeding disorders RASGRP2 Louise Daugherty reviewed RASGRP2
Inherited bleeding disorders PROS1 Louise Daugherty reviewed PROS1
Inherited bleeding disorders PROC Louise Daugherty reviewed PROC
Inherited bleeding disorders PLG Louise Daugherty reviewed PLG
Inherited bleeding disorders PLAU Louise Daugherty reviewed PLAU
Inherited bleeding disorders PLAT Louise Daugherty reviewed PLAT
Inherited bleeding disorders PLA2G4A Louise Daugherty reviewed PLA2G4A
Inherited bleeding disorders P2RY12 Louise Daugherty reviewed P2RY12
Inherited bleeding disorders ORAI1 Louise Daugherty reviewed ORAI1
Inherited bleeding disorders NBEAL2 Louise Daugherty reviewed NBEAL2
Inherited bleeding disorders NBEA Louise Daugherty reviewed NBEA
Inherited bleeding disorders MYH9 Louise Daugherty reviewed MYH9
Inherited bleeding disorders MPL Louise Daugherty reviewed MPL
Inherited bleeding disorders MECOM Louise Daugherty reviewed MECOM
Inherited bleeding disorders MCFD2 Louise Daugherty reviewed MCFD2
Inherited bleeding disorders LYST Louise Daugherty reviewed LYST
Inherited bleeding disorders LMAN1 Louise Daugherty reviewed LMAN1
Inherited bleeding disorders ITGB3 Louise Daugherty reviewed ITGB3
Inherited bleeding disorders ITGA2B Louise Daugherty reviewed ITGA2B
Inherited bleeding disorders HRG Louise Daugherty reviewed HRG
Inherited bleeding disorders HPS6 Louise Daugherty reviewed HPS6
Inherited bleeding disorders HPS5 Louise Daugherty reviewed HPS5
Inherited bleeding disorders HPS4 Louise Daugherty reviewed HPS4
Inherited bleeding disorders HPS3 Louise Daugherty reviewed HPS3
Inherited bleeding disorders HPS1 Louise Daugherty reviewed HPS1
Inherited bleeding disorders HOXA11 Louise Daugherty reviewed HOXA11
Inherited bleeding disorders GP9 Louise Daugherty reviewed GP9
Inherited bleeding disorders GP6 Louise Daugherty reviewed GP6
Inherited bleeding disorders GP1BB Louise Daugherty reviewed GP1BB
Inherited bleeding disorders GP1BA Louise Daugherty reviewed GP1BA
Inherited bleeding disorders GNE Louise Daugherty reviewed GNE
Inherited bleeding disorders GGCX Louise Daugherty reviewed GGCX
Inherited bleeding disorders GFI1B Louise Daugherty reviewed GFI1B
Inherited bleeding disorders GATA1 Louise Daugherty reviewed GATA1
Inherited bleeding disorders FLNA Louise Daugherty reviewed FLNA
Inherited bleeding disorders FLI1 Louise Daugherty reviewed FLI1
Inherited bleeding disorders FGG Louise Daugherty reviewed FGG
Inherited bleeding disorders FGB Louise Daugherty reviewed FGB
Inherited bleeding disorders FGA Louise Daugherty reviewed FGA
Inherited bleeding disorders FERMT3 Louise Daugherty reviewed FERMT3
Inherited bleeding disorders F9 Louise Daugherty reviewed F9
Inherited bleeding disorders F8 Louise Daugherty reviewed F8
Inherited bleeding disorders F7 Louise Daugherty reviewed F7
Inherited bleeding disorders F5 Louise Daugherty reviewed F5
Inherited bleeding disorders F2 Louise Daugherty reviewed F2
Inherited bleeding disorders F13B Louise Daugherty reviewed F13B
Inherited bleeding disorders F13A1 Louise Daugherty reviewed F13A1
Inherited bleeding disorders F11 Louise Daugherty reviewed F11
Inherited bleeding disorders F10 Louise Daugherty reviewed F10
Inherited bleeding disorders ETV6 Louise Daugherty reviewed ETV6
Inherited bleeding disorders DTNBP1 Louise Daugherty reviewed DTNBP1
Inherited bleeding disorders DIAPH1 Louise Daugherty reviewed DIAPH1
Inherited bleeding disorders CYCS Louise Daugherty reviewed CYCS
Inherited bleeding disorders CHST14 Louise Daugherty reviewed CHST14
Inherited bleeding disorders BLOC1S6 Louise Daugherty reviewed BLOC1S6
Inherited bleeding disorders BLOC1S3 Louise Daugherty reviewed BLOC1S3
Inherited bleeding disorders AP3B1 Louise Daugherty reviewed AP3B1
Inherited bleeding disorders ANO6 Louise Daugherty reviewed ANO6
Inherited bleeding disorders ANKRD26 Louise Daugherty reviewed ANKRD26
Inherited bleeding disorders ACTN1 Louise Daugherty reviewed ACTN1
Congenital disorders of glycosylation POMT1 Sarah Leigh marked POMT1 as ready
Congenital disorders of glycosylation POMT1 Sarah Leigh commented on POMT1
Congenital disorders of glycosylation POMGNT1 Sarah Leigh marked POMGNT1 as ready
Congenital disorders of glycosylation POMGNT1 Sarah Leigh commented on POMGNT1
Inherited bleeding disorders ACTN1 Ellen McDonagh classified ACTN1 as green
Inherited bleeding disorders WAS BRIDGE consortium reviewed WAS
Inherited bleeding disorders VWF BRIDGE consortium reviewed VWF
Inherited bleeding disorders VPS33B BRIDGE consortium reviewed VPS33B
Inherited bleeding disorders VKORC1 BRIDGE consortium reviewed VKORC1
Inherited bleeding disorders VIPAS39 BRIDGE consortium reviewed VIPAS39
Inherited bleeding disorders TUBB1 BRIDGE consortium reviewed TUBB1
Inherited bleeding disorders THPO BRIDGE consortium reviewed THPO
Inherited bleeding disorders THBD BRIDGE consortium reviewed THBD
Inherited bleeding disorders TBXAS1 BRIDGE consortium reviewed TBXAS1
Inherited bleeding disorders TBXA2R BRIDGE consortium reviewed TBXA2R
Inherited bleeding disorders STXBP2 BRIDGE consortium reviewed STXBP2
Inherited bleeding disorders STIM1 BRIDGE consortium reviewed STIM1
Inherited bleeding disorders SLFN14 BRIDGE consortium reviewed SLFN14
Inherited bleeding disorders SLC45A2 BRIDGE consortium reviewed SLC45A2
Inherited bleeding disorders SERPINF2 BRIDGE consortium reviewed SERPINF2
Inherited bleeding disorders SERPINE1 BRIDGE consortium reviewed SERPINE1
Inherited bleeding disorders SERPIND1 BRIDGE consortium reviewed SERPIND1
Inherited bleeding disorders SERPINC1 BRIDGE consortium reviewed SERPINC1
Inherited bleeding disorders RUNX1 BRIDGE consortium reviewed RUNX1
Inherited bleeding disorders RBM8A BRIDGE consortium reviewed RBM8A
Inherited bleeding disorders RASGRP2 BRIDGE consortium reviewed RASGRP2
Inherited bleeding disorders PROS1 BRIDGE consortium reviewed PROS1
Inherited bleeding disorders PROC BRIDGE consortium reviewed PROC
Inherited bleeding disorders PLG BRIDGE consortium reviewed PLG
Inherited bleeding disorders PLAU BRIDGE consortium reviewed PLAU
Inherited bleeding disorders PLAT BRIDGE consortium reviewed PLAT
Inherited bleeding disorders PLA2G4A BRIDGE consortium reviewed PLA2G4A
Inherited bleeding disorders P2RY12 BRIDGE consortium reviewed P2RY12
Inherited bleeding disorders ORAI1 BRIDGE consortium reviewed ORAI1
Inherited bleeding disorders NBEAL2 BRIDGE consortium reviewed NBEAL2
Inherited bleeding disorders NBEA BRIDGE consortium reviewed NBEA
Inherited bleeding disorders MYH9 BRIDGE consortium reviewed MYH9
Inherited bleeding disorders MPL BRIDGE consortium reviewed MPL
Inherited bleeding disorders MECOM BRIDGE consortium reviewed MECOM
Inherited bleeding disorders MCFD2 BRIDGE consortium reviewed MCFD2
Inherited bleeding disorders LYST BRIDGE consortium reviewed LYST
Inherited bleeding disorders LMAN1 BRIDGE consortium reviewed LMAN1
Inherited bleeding disorders ITGB3 BRIDGE consortium reviewed ITGB3
Inherited bleeding disorders ITGA2B BRIDGE consortium reviewed ITGA2B
Inherited bleeding disorders HRG BRIDGE consortium reviewed HRG
Inherited bleeding disorders HPS6 BRIDGE consortium reviewed HPS6
Inherited bleeding disorders HPS5 BRIDGE consortium reviewed HPS5
Inherited bleeding disorders HPS4 BRIDGE consortium reviewed HPS4
Inherited bleeding disorders HPS3 BRIDGE consortium reviewed HPS3
Inherited bleeding disorders HPS1 BRIDGE consortium reviewed HPS1
Inherited bleeding disorders HOXA11 BRIDGE consortium reviewed HOXA11
Inherited bleeding disorders GP9 BRIDGE consortium reviewed GP9
Inherited bleeding disorders GP6 BRIDGE consortium reviewed GP6
Inherited bleeding disorders GP1BB BRIDGE consortium reviewed GP1BB
Inherited bleeding disorders GP1BA BRIDGE consortium reviewed GP1BA
Inherited bleeding disorders GNE BRIDGE consortium reviewed GNE
Inherited bleeding disorders GGCX BRIDGE consortium reviewed GGCX
Inherited bleeding disorders GFI1B BRIDGE consortium reviewed GFI1B
Inherited bleeding disorders GATA1 BRIDGE consortium reviewed GATA1
Inherited bleeding disorders FLNA BRIDGE consortium reviewed FLNA
Inherited bleeding disorders FLI1 BRIDGE consortium reviewed FLI1
Inherited bleeding disorders FGG BRIDGE consortium reviewed FGG
Inherited bleeding disorders FGB BRIDGE consortium reviewed FGB
Inherited bleeding disorders FGA BRIDGE consortium reviewed FGA
Inherited bleeding disorders FERMT3 BRIDGE consortium reviewed FERMT3
Inherited bleeding disorders F9 BRIDGE consortium reviewed F9
Inherited bleeding disorders F8 BRIDGE consortium reviewed F8
Inherited bleeding disorders F7 BRIDGE consortium reviewed F7
Inherited bleeding disorders F5 BRIDGE consortium reviewed F5
Inherited bleeding disorders F2 BRIDGE consortium reviewed F2
Inherited bleeding disorders F13B BRIDGE consortium reviewed F13B
Inherited bleeding disorders F13A1 BRIDGE consortium reviewed F13A1
Inherited bleeding disorders F11 BRIDGE consortium reviewed F11
Inherited bleeding disorders F10 BRIDGE consortium reviewed F10
Inherited bleeding disorders ETV6 BRIDGE consortium reviewed ETV6
Inherited bleeding disorders DTNBP1 BRIDGE consortium reviewed DTNBP1
Inherited bleeding disorders DIAPH1 BRIDGE consortium reviewed DIAPH1
Inherited bleeding disorders CYCS BRIDGE consortium reviewed CYCS
Inherited bleeding disorders CHST14 BRIDGE consortium reviewed CHST14
Inherited bleeding disorders BLOC1S6 BRIDGE consortium reviewed BLOC1S6
Inherited bleeding disorders BLOC1S3 BRIDGE consortium reviewed BLOC1S3
Inherited bleeding disorders AP3B1 BRIDGE consortium reviewed AP3B1
Inherited bleeding disorders ANO6 BRIDGE consortium reviewed ANO6
Inherited bleeding disorders ANKRD26 BRIDGE consortium reviewed ANKRD26
Inherited bleeding disorders ACTN1 BRIDGE consortium reviewed ACTN1
Congenital disorders of glycosylation PIGA Sarah Leigh marked PIGA as ready
Congenital disorders of glycosylation PIGA Sarah Leigh commented on PIGA
Fetal hydrops CBL Rebecca Foulger classified CBL as green
Congenital disorders of glycosylation PMM2 Sarah Leigh marked PMM2 as ready
Congenital disorders of glycosylation PMM2 Sarah Leigh commented on PMM2
Congenital disorders of glycosylation PIGV Sarah Leigh marked PIGV as ready
Congenital disorders of glycosylation PIGV Sarah Leigh commented on PIGV
Fetal hydrops PMM2 Rebecca Foulger marked PMM2 as ready
Congenital disorders of glycosylation PIGO Sarah Leigh marked PIGO as ready
Congenital disorders of glycosylation PIGO Sarah Leigh commented on PIGO
Fetal hydrops PIEZO1 Rebecca Foulger marked PIEZO1 as ready
Malformations of cortical development TUBG1 Alice Gardham marked TUBG1 as ready
Malformations of cortical development TUBG1 Alice Gardham classified TUBG1 as green
Malformations of cortical development TUBG1 Alice Gardham reviewed TUBG1
Malformations of cortical development TUBB Alice Gardham marked TUBB as ready
Malformations of cortical development TUBB Alice Gardham classified TUBB as amber
Malformations of cortical development TUBB2A Alice Gardham marked TUBB2A as ready
Congenital disorders of glycosylation PGM1 Sarah Leigh marked PGM1 as ready
Congenital disorders of glycosylation PGM1 Sarah Leigh commented on PGM1
Malformations of cortical development TUBB2A Alice Gardham classified TUBB2A as green
Malformations of cortical development TUBB2A Alice Gardham reviewed TUBB2A
Congenital disorders of glycosylation PIGL Sarah Leigh marked PIGL as ready
Congenital disorders of glycosylation PIGL Sarah Leigh commented on PIGL
Malformations of cortical development RELN Alice Gardham marked RELN as ready
Malformations of cortical development RELN Alice Gardham classified RELN as green
Fetal hydrops GUSB Rebecca Foulger marked GUSB as ready
Congenital disorders of glycosylation PGAP2 Sarah Leigh marked PGAP2 as ready
Congenital disorders of glycosylation PGAP2 Sarah Leigh commented on PGAP2
Malformations of cortical development LAMC3 Alice Gardham marked LAMC3 as ready
Malformations of cortical development LAMC3 Alice Gardham commented on LAMC3
Congenital disorders of glycosylation MPI Sarah Leigh marked MPI as ready
Congenital disorders of glycosylation MPI Sarah Leigh commented on MPI
Malformations of cortical development KIF5C Alice Gardham marked KIF5C as ready
Malformations of cortical development KIF5C Alice Gardham commented on KIF5C
Malformations of cortical development KIF5C Alice Gardham classified KIF5C as green
Congenital disorders of glycosylation MPDU1 Sarah Leigh marked MPDU1 as ready
Congenital disorders of glycosylation MPDU1 Sarah Leigh commented on MPDU1
Malformations of cortical development KIF2A Alice Gardham marked KIF2A as ready
Malformations of cortical development KIF2A Alice Gardham commented on KIF2A
Malformations of cortical development KIF2A Alice Gardham classified KIF2A as green
Congenital disorders of glycosylation MOGS Sarah Leigh marked MOGS as ready
Congenital disorders of glycosylation MOGS Sarah Leigh commented on MOGS
Congenital disorders of glycosylation MOGS Sarah Leigh classified MOGS as amber
Fetal hydrops FOXC2 Rebecca Foulger marked FOXC2 as ready
Malformations of cortical development TUBA8 Alice Gardham marked TUBA8 as ready
Malformations of cortical development TUBA8 Alice Gardham commented on TUBA8
Fetal hydrops FLT4 Rebecca Foulger marked FLT4 as ready
Fetal hydrops GBE1 Rebecca Foulger marked GBE1 as ready
Congenital disorders of glycosylation MGAT2 Sarah Leigh commented on MGAT2
Congenital disorders of glycosylation MGAT2 Sarah Leigh marked MGAT2 as ready
Congenital disorders of glycosylation MAN1B1 Sarah Leigh marked MAN1B1 as ready
Congenital disorders of glycosylation MAN1B1 Sarah Leigh commented on MAN1B1
Congenital disorders of glycosylation LFNG Sarah Leigh marked LFNG as ready
Congenital disorders of glycosylation LFNG Sarah Leigh commented on LFNG
Congenital disorders of glycosylation LFNG Sarah Leigh classified LFNG as red
Congenital disorders of glycosylation LARGE Sarah Leigh marked LARGE as ready
Congenital disorders of glycosylation LARGE Sarah Leigh commented on LARGE
Congenital disorders of glycosylation GNE Sarah Leigh marked GNE as ready
Congenital disorders of glycosylation GNE Sarah Leigh commented on GNE
Congenital disorders of glycosylation GFPT1 Sarah Leigh marked GFPT1 as ready
Congenital disorders of glycosylation GFPT1 Sarah Leigh commented on GFPT1
Congenital disorders of glycosylation GALNT3 Sarah Leigh commented on GALNT3
Congenital disorders of glycosylation GALNT3 Sarah Leigh marked GALNT3 as ready
Fetal hydrops HBA2 Richard Choy reviewed HBA2
Congenital disorders of glycosylation FKTN Sarah Leigh marked FKTN as ready
Congenital disorders of glycosylation FKTN Sarah Leigh commented on FKTN
Congenital disorders of glycosylation FKRP Sarah Leigh marked FKRP as ready
Congenital disorders of glycosylation FKRP Sarah Leigh commented on FKRP
Fetal hydrops HBA1 Richard Choy reviewed HBA1
Parkinson Disease and Complex Parkinsonism Ellen McDonagh promoted panel to version 1
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Arianna Tucci reviewed PFN1
Amyotrophic lateral sclerosis/motor neuron disease NEFH Arianna Tucci reviewed NEFH
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Arianna Tucci reviewed HNRNPA1
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Arianna Tucci reviewed ERBB4
Glaucoma (developmental) C10orf11 Louise Daugherty commented on C10orf11
Fetal hydrops CTSA Liona Poon added CTSA to panel
Fetal hydrops CTSA Liona Poon reviewed CTSA
Clefting COL11A1 Ellen McDonagh marked COL11A1 as ready
Clefting COL11A1 Ellen McDonagh classified COL11A1 as green
Clefting COL11A1 Ellen McDonagh commented on COL11A1
Clefting IRF6 Ellen McDonagh marked IRF6 as ready
Clefting IRF6 Ellen McDonagh classified IRF6 as green
Clefting IRF6 Ellen McDonagh commented on IRF6
Clefting IRF6 Ellen McDonagh classified IRF6 as green
Fetal hydrops ALG1 Rebecca Foulger commented on ALG1
Fetal hydrops LARS2 Rebecca Foulger classified LARS2 as red
Fetal hydrops LARS2 Rebecca Foulger commented on LARS2
Fetal hydrops LBR Rebecca Foulger commented on LBR
Fetal hydrops GUSB Rebecca Foulger classified GUSB as green
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GLE1 Rebecca Foulger classified GLE1 as red
Fetal hydrops GLE1 Rebecca Foulger commented on GLE1
Fetal hydrops PMM2 Rebecca Foulger classified PMM2 as green
Fetal hydrops PMM2 Rebecca Foulger commented on PMM2
Fetal hydrops PMM2 Rebecca Foulger commented on PMM2
Fetal hydrops PMM2 Rebecca Foulger commented on PMM2
Fetal hydrops DMPK Rebecca Foulger commented on DMPK
Fetal hydrops DMPK Rebecca Foulger classified DMPK as red
Fetal hydrops DMPK Rebecca Foulger commented on DMPK
Congenital disorders of glycosylation EXT2 Sarah Leigh marked EXT2 as ready
Congenital disorders of glycosylation EXT2 Sarah Leigh commented on EXT2
Congenital disorders of glycosylation EXT1 Sarah Leigh marked EXT1 as ready
Congenital disorders of glycosylation EXT1 Sarah Leigh commented on EXT1
Malformations of cortical development TUBB2B Alice Gardham marked TUBB2B as ready
Malformations of cortical development TUBB2B Alice Gardham reviewed TUBB2B
Malformations of cortical development TUBB3 Alice Gardham marked TUBB3 as ready
Fetal hydrops CBL Rebecca Foulger commented on CBL
Malformations of cortical development TUBB Alice Gardham reviewed TUBB
Congenital disorders of glycosylation DPM3 Sarah Leigh classified DPM3 as red
Congenital disorders of glycosylation DPM3 Sarah Leigh marked DPM3 as ready
Congenital disorders of glycosylation DPM3 Sarah Leigh commented on DPM3
Fetal hydrops CBL Rebecca Foulger commented on CBL
Congenital disorders of glycosylation DPM2 Sarah Leigh marked DPM2 as ready
Congenital disorders of glycosylation DPM2 Sarah Leigh commented on DPM2
Congenital disorders of glycosylation DPM2 Sarah Leigh classified DPM2 as red
Malformations of cortical development PIK3R2 Alice Gardham marked PIK3R2 as ready
Malformations of cortical development PIK3R2 Alice Gardham commented on PIK3R2
Malformations of cortical development PIK3R2 Alice Gardham classified PIK3R2 as green
Malformations of cortical development PIK3CA Alice Gardham marked PIK3CA as ready
Malformations of cortical development PIK3CA Alice Gardham commented on PIK3CA
Malformations of cortical development PIK3CA Alice Gardham classified PIK3CA as green
Malformations of cortical development WDR62 Alice Gardham marked WDR62 as ready
Malformations of cortical development WDR62 Alice Gardham classified WDR62 as green
Congenital disorders of glycosylation DPM1 Sarah Leigh marked DPM1 as ready
Congenital disorders of glycosylation DPM1 Sarah Leigh commented on DPM1
Congenital disorders of glycosylation DPAGT1 Sarah Leigh marked DPAGT1 as ready
Congenital disorders of glycosylation DPAGT1 Sarah Leigh commented on DPAGT1
Malformations of cortical development POMT2 Alice Gardham marked POMT2 as ready
Malformations of cortical development POMT2 Alice Gardham commented on POMT2
Malformations of cortical development POMT2 Alice Gardham classified POMT2 as green
Fetal hydrops NEU1 Rebecca Foulger classified NEU1 as green
Congenital disorders of glycosylation DOLK Sarah Leigh marked DOLK as ready
Congenital disorders of glycosylation DOLK Sarah Leigh commented on DOLK
Malformations of cortical development POMT1 Alice Gardham marked POMT1 as ready
Malformations of cortical development POMT1 Alice Gardham commented on POMT1
Malformations of cortical development POMT1 Alice Gardham classified POMT1 as green
Congenital disorders of glycosylation DHDDS Sarah Leigh marked DHDDS as ready
Congenital disorders of glycosylation DHDDS Sarah Leigh commented on DHDDS
Fetal hydrops NEU1 Rebecca Foulger commented on NEU1
Fetal hydrops NEU1 Rebecca Foulger commented on NEU1
Congenital disorders of glycosylation DHDDS Sarah Leigh classified DHDDS as red
Congenital disorders of glycosylation DDOST Sarah Leigh marked DDOST as ready
Congenital disorders of glycosylation DDOST Sarah Leigh commented on DDOST
Malformations of cortical development POMGNT1 Alice Gardham marked POMGNT1 as ready
Malformations of cortical development POMGNT1 Alice Gardham commented on POMGNT1
Malformations of cortical development POMGNT1 Alice Gardham classified POMGNT1 as green
Congenital disorders of glycosylation DDOST Sarah Leigh classified DDOST as red
Malformations of cortical development NEDD4L Alice Gardham marked NEDD4L as ready
Malformations of cortical development NEDD4L Alice Gardham commented on NEDD4L
Malformations of cortical development NEDD4L Alice Gardham classified NEDD4L as green
Fetal hydrops NEU1 Rebecca Foulger commented on NEU1
Malformations of cortical development LARGE Alice Gardham marked LARGE as ready
Malformations of cortical development LARGE Alice Gardham commented on LARGE
Congenital disorders of glycosylation COG8 Sarah Leigh marked COG8 as ready
Congenital disorders of glycosylation COG8 Sarah Leigh commented on COG8
Malformations of cortical development LARGE Alice Gardham classified LARGE as green
Congenital disorders of glycosylation COG7 Sarah Leigh marked COG7 as ready
Congenital disorders of glycosylation COG7 Sarah Leigh commented on COG7
Malformations of cortical development LAMB1 Alice Gardham marked LAMB1 as ready
Malformations of cortical development LAMB1 Alice Gardham classified LAMB1 as green
Malformations of cortical development FKRP Alice Gardham marked FKRP as ready
Malformations of cortical development FKRP Alice Gardham commented on FKRP
Malformations of cortical development FKRP Alice Gardham classified FKRP as green
Malformations of cortical development DYNC1H1 Alice Gardham marked DYNC1H1 as ready
Malformations of cortical development DYNC1H1 Alice Gardham commented on DYNC1H1
Malformations of cortical development DYNC1H1 Alice Gardham classified DYNC1H1 as green
Malformations of cortical development ARFGEF2 Alice Gardham marked ARFGEF2 as ready
Malformations of cortical development ARFGEF2 Alice Gardham classified ARFGEF2 as green
Fetal hydrops FOXC2 Rebecca Foulger classified FOXC2 as green
Malformations of cortical development AKT3 Alice Gardham marked AKT3 as ready
Malformations of cortical development AKT3 Alice Gardham commented on AKT3
Malformations of cortical development AKT3 Alice Gardham classified AKT3 as green
Malformations of cortical development ACTG1 Alice Gardham marked ACTG1 as ready
Malformations of cortical development ACTG1 Alice Gardham commented on ACTG1
Malformations of cortical development ACTG1 Alice Gardham classified ACTG1 as green
Fetal hydrops FOXC2 Rebecca Foulger commented on FOXC2
Malformations of cortical development ACTB Alice Gardham classified ACTB as green
Fetal hydrops FOXC2 Rebecca Foulger commented on FOXC2
Malformations of cortical development ACTB Alice Gardham commented on ACTB
Malformations of cortical development ACTB Alice Gardham marked ACTB as ready
Congenital disorders of glycosylation COG6 Sarah Leigh marked COG6 as ready
Congenital disorders of glycosylation COG6 Sarah Leigh commented on COG6
Fetal hydrops FOXC2 Rebecca Foulger commented on FOXC2
Fetal hydrops FLT4 Rebecca Foulger classified FLT4 as green
Fetal hydrops FLT4 Rebecca Foulger commented on FLT4
Fetal hydrops FLT4 Rebecca Foulger commented on FLT4
Congenital disorders of glycosylation COG5 Sarah Leigh marked COG5 as ready
Congenital disorders of glycosylation COG5 Sarah Leigh commented on COG5
Congenital disorders of glycosylation COG4 Sarah Leigh marked COG4 as ready
Congenital disorders of glycosylation COG4 Sarah Leigh commented on COG4
Fetal hydrops PIEZO1 Rebecca Foulger classified PIEZO1 as green
Fetal hydrops PIEZO1 Rebecca Foulger commented on PIEZO1
Congenital disorders of glycosylation COG1 Sarah Leigh marked COG1 as ready
Congenital disorders of glycosylation COG1 Sarah Leigh commented on COG1
Fetal hydrops PIEZO1 Rebecca Foulger commented on PIEZO1
Congenital disorders of glycosylation CHST6 Sarah Leigh marked CHST6 as ready
Congenital disorders of glycosylation CHST6 Sarah Leigh commented on CHST6
Fetal hydrops PIEZO1 Rebecca Foulger commented on PIEZO1
Congenital disorders of glycosylation CHST3 Sarah Leigh marked CHST3 as ready
Congenital disorders of glycosylation CHST3 Sarah Leigh commented on CHST3
Congenital disorders of glycosylation B4GALT7 Sarah Leigh marked B4GALT7 as ready
Congenital disorders of glycosylation B4GALT7 Sarah Leigh commented on B4GALT7
Congenital disorders of glycosylation B4GALT1 Sarah Leigh marked B4GALT1 as ready
Congenital disorders of glycosylation B4GALT1 Sarah Leigh commented on B4GALT1
Fetal hydrops CCBE1 Rebecca Foulger commented on CCBE1
Fetal hydrops CCBE1 Rebecca Foulger edited their review of CCBE1
Fetal hydrops CCBE1 Rebecca Foulger commented on CCBE1
Congenital disorders of glycosylation B3GALTL Sarah Leigh marked B3GALTL as ready
Fetal hydrops HBA1 Rebecca Foulger commented on HBA1
Congenital disorders of glycosylation ATP6V0A2 Sarah Leigh marked ATP6V0A2 as ready
Congenital disorders of glycosylation ATP6V0A2 Sarah Leigh commented on ATP6V0A2
Fetal hydrops HBA2 Rebecca Foulger commented on HBA2
Fetal hydrops FOXP3 Rebecca Foulger marked FOXP3 as ready
Fetal hydrops FOXP3 Rebecca Foulger commented on FOXP3
Fetal hydrops FOXP3 Rebecca Foulger edited their review of FOXP3
Intellectual disability SYNJ1 Ellen McDonagh commented on SYNJ1
Intellectual disability SYNJ1 Ellen McDonagh added SYNJ1 to panel
Intellectual disability SYNJ1 Ellen McDonagh reviewed SYNJ1
Congenital disorders of glycosylation ALG9 Sarah Leigh marked ALG9 as ready
Intellectual disability SPR Ellen McDonagh commented on SPR
Fetal hydrops GBE1 Rebecca Foulger classified GBE1 as green
Early onset dystonia VPS13A Ellen McDonagh classified VPS13A as green
Early onset dystonia VPS13A Ellen McDonagh commented on VPS13A
Congenital disorders of glycosylation ALG9 Sarah Leigh commented on ALG9
Early onset dystonia SYNJ1 Ellen McDonagh classified SYNJ1 as green
Early onset dystonia SYNJ1 Ellen McDonagh commented on SYNJ1
Congenital disorders of glycosylation ALG8 Sarah Leigh marked ALG8 as ready
Congenital disorders of glycosylation ALG8 Sarah Leigh commented on ALG8
Early onset dystonia PRKRA Ellen McDonagh commented on PRKRA
Early onset dystonia PRKRA Ellen McDonagh classified PRKRA as green
Congenital disorders of glycosylation ALG6 Sarah Leigh marked ALG6 as ready
Congenital disorders of glycosylation ALG6 Sarah Leigh commented on ALG6
Congenital disorders of glycosylation ALG3 Sarah Leigh marked ALG3 as ready
Congenital disorders of glycosylation ALG3 Sarah Leigh commented on ALG3
Early onset dystonia VPS13A Arianna Tucci reviewed VPS13A
Early onset dystonia TUBB4A Arianna Tucci reviewed TUBB4A
Early onset dystonia TOR1A Arianna Tucci reviewed TOR1A
Early onset dystonia THAP1 Arianna Tucci reviewed THAP1
Early onset dystonia TAF1 Arianna Tucci reviewed TAF1
Early onset dystonia SYNJ1 Arianna Tucci reviewed SYNJ1
Early onset dystonia SLC30A10 Arianna Tucci reviewed SLC30A10
Early onset dystonia SGCE Arianna Tucci reviewed SGCE
Early onset dystonia PRKRA Arianna Tucci reviewed PRKRA
Early onset dystonia GNAL Arianna Tucci reviewed GNAL
Early onset dystonia SPR Arianna Tucci reviewed SPR
Early onset dystonia ATP1A3 Arianna Tucci reviewed ATP1A3
Early onset dystonia ANO3 Arianna Tucci reviewed ANO3
Fetal hydrops FOXP3 Rebecca Foulger classified FOXP3 as green
Fetal hydrops FOXP3 Rebecca Foulger commented on FOXP3
Congenital disorders of glycosylation ALG2 Sarah Leigh marked ALG2 as ready
Congenital disorders of glycosylation ALG2 Sarah Leigh commented on ALG2
Congenital disorders of glycosylation ALG2 Sarah Leigh classified ALG2 as red
Congenital disorders of glycosylation ALG13 Sarah Leigh marked ALG13 as ready
Congenital disorders of glycosylation ALG13 Sarah Leigh commented on ALG13
Congenital disorders of glycosylation ALG13 Sarah Leigh classified ALG13 as red
Congenital disorders of glycosylation ALG12 Sarah Leigh marked ALG12 as ready
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh marked LRRK2 as ready
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as green
Congenital disorders of glycosylation ALG11 Sarah Leigh marked ALG11 as ready
Congenital disorders of glycosylation ALG11 Sarah Leigh commented on ALG11
Congenital disorders of glycosylation ALG1 Sarah Leigh commented on ALG1
Congenital disorders of glycosylation ALG1 Sarah Leigh marked ALG1 as ready
Cerebral vascular malformations THSD1 Alice Gardham marked THSD1 as ready
Cerebral vascular malformations THSD1 Alice Gardham classified THSD1 as green
Cerebral vascular malformations THSD1 Alice Gardham commented on THSD1
Cerebral vascular malformations FBN1 Alice Gardham marked FBN1 as ready
Cerebral vascular malformations FBN1 Alice Gardham added FBN1 to panel
Cerebral vascular malformations FBN1 Alice Gardham reviewed FBN1
Parkinson Disease and Complex Parkinsonism C9ORF72 Ellen McDonagh classified C9ORF72* as grey
Parkinson Disease and Complex Parkinsonism C9ORF72 Ellen McDonagh commented on C9ORF72*
Parkinson Disease and Complex Parkinsonism C9orf72 Arianna Tucci reviewed C9orf72
Cerebral vascular malformations COL3A1 Alice Gardham marked COL3A1 as ready
Cerebral vascular malformations COL3A1 Alice Gardham classified COL3A1 as green
Parkinson Disease and Complex Parkinsonism FTL Ellen McDonagh marked FTL as ready
Parkinson Disease and Complex Parkinsonism UCHL1 Ellen McDonagh marked UCHL1 as ready
Parkinson Disease and Complex Parkinsonism SNCAIP Ellen McDonagh marked SNCAIP as ready
Parkinson Disease and Complex Parkinsonism IPPK Ellen McDonagh marked IPPK as ready
Parkinson Disease and Complex Parkinsonism HTT Ellen McDonagh marked HTT as ready
Parkinson Disease and Complex Parkinsonism HTRA2 Ellen McDonagh marked HTRA2 as ready
Cerebral vascular malformations TGFB2 Alice Gardham marked TGFB2 as ready
Cerebral vascular malformations TGFBR2 Alice Gardham marked TGFBR2 as ready
Cerebral vascular malformations TGFBR1 Alice Gardham marked TGFBR1 as ready
Cerebral vascular malformations SMAD3 Alice Gardham marked SMAD3 as ready
Cerebral vascular malformations HBB Alice Gardham marked HBB as ready
Cerebral vascular malformations TRAIP Alice Gardham marked TRAIP as ready
Parkinson Disease and Complex Parkinsonism CHCHD2 Ellen McDonagh marked CHCHD2 as ready
Cerebral vascular malformations RBBP8 Alice Gardham marked RBBP8 as ready
Cerebral vascular malformations NIN Alice Gardham marked NIN as ready
Parkinson Disease and Complex Parkinsonism VPS35 Ellen McDonagh marked VPS35 as ready
Cerebral vascular malformations DNA2 Alice Gardham marked DNA2 as ready
Parkinson Disease and Complex Parkinsonism VPS13A Ellen McDonagh marked VPS13A as ready
Cerebral vascular malformations CEP63 Alice Gardham marked CEP63 as ready
Parkinson Disease and Complex Parkinsonism TUBB4A Ellen McDonagh marked TUBB4A as ready
Parkinson Disease and Complex Parkinsonism TUBB4A Ellen McDonagh classified TUBB4A as green
Cerebral vascular malformations CEP152 Alice Gardham marked CEP152 as ready
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh marked TOR1A as ready
Cerebral vascular malformations CENPJ Alice Gardham marked CENPJ as ready
Fetal hydrops NEU1 Liona Poon reviewed NEU1
Cerebral vascular malformations CENPJ Alice Gardham classified CENPJ as red
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh marked THAP1 as ready
Cerebral vascular malformations ATR Alice Gardham marked ATR as ready
Cerebral vascular malformations ATR Alice Gardham classified ATR as green
Parkinson Disease and Complex Parkinsonism SYNJ1 Ellen McDonagh marked SYNJ1 as ready
Parkinson Disease and Complex Parkinsonism SPG11 Ellen McDonagh marked SPG11 as ready
Parkinson Disease and Complex Parkinsonism SLC30A10 Ellen McDonagh marked SLC30A10 as ready
Fetal hydrops FOXP3 Liona Poon reviewed FOXP3
Parkinson Disease and Complex Parkinsonism SGCE Ellen McDonagh marked SGCE as ready
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh marked RAB39B as ready
Fetal hydrops FOXC2 Liona Poon reviewed FOXC2
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh marked PRKRA as ready
Fetal hydrops FLT4 Liona Poon reviewed FLT4
Fetal hydrops CCBE1 Liona Poon reviewed CCBE1
Fetal hydrops HBA2 Liona Poon reviewed HBA2
Fetal hydrops HBA1 Liona Poon reviewed HBA1
Fetal hydrops HBA1 Liona Poon reviewed HBA1
Fetal hydrops GBE1 Liona Poon reviewed GBE1
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as amber
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as amber
Parkinson Disease and Complex Parkinsonism GRN Ellen McDonagh marked GRN as ready
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh marked GNAL as ready
Parkinson Disease and Complex Parkinsonism DNAJC6 Ellen McDonagh marked DNAJC6 as ready
Parkinson Disease and Complex Parkinsonism CSF1R Ellen McDonagh marked CSF1R as ready
Parkinson Disease and Complex Parkinsonism CSF1R Ellen McDonagh classified CSF1R as green
Malformations of cortical development Ellen McDonagh rejected panel
Cerebral vascular malformations TRAIP Alice Gardham added TRAIP to panel
Cerebral vascular malformations TRAIP Alice Gardham reviewed TRAIP
Cerebral vascular malformations DNA2 Alice Gardham added DNA2 to panel
Cerebral vascular malformations DNA2 Alice Gardham reviewed DNA2
Parkinson Disease and Complex Parkinsonism UCHL1 Arianna Tucci reviewed UCHL1
Parkinson Disease and Complex Parkinsonism TBP Arianna Tucci commented on TBP
Parkinson Disease and Complex Parkinsonism SNCAIP Arianna Tucci reviewed SNCAIP
Parkinson Disease and Complex Parkinsonism SLC41A1 Arianna Tucci reviewed SLC41A1
Parkinson Disease and Complex Parkinsonism NR4A2 Arianna Tucci reviewed NR4A2
Parkinson Disease and Complex Parkinsonism IPPK Arianna Tucci reviewed IPPK
Parkinson Disease and Complex Parkinsonism HTT Arianna Tucci commented on HTT
Parkinson Disease and Complex Parkinsonism HTRA2 Arianna Tucci commented on HTRA2
Parkinson Disease and Complex Parkinsonism GIGYF2 Arianna Tucci reviewed GIGYF2
Parkinson Disease and Complex Parkinsonism GBA Arianna Tucci reviewed GBA
Parkinson Disease and Complex Parkinsonism EIF4G1 Arianna Tucci reviewed EIF4G1
Parkinson Disease and Complex Parkinsonism CHCHD2 Arianna Tucci reviewed CHCHD2
Parkinson Disease and Complex Parkinsonism C9ORF72 Arianna Tucci reviewed C9ORF72*
Parkinson Disease and Complex Parkinsonism ATXN3 Arianna Tucci reviewed ATXN3
Parkinson Disease and Complex Parkinsonism ATXN2 Arianna Tucci reviewed ATXN2
Parkinson Disease and Complex Parkinsonism VPS35 Arianna Tucci reviewed VPS35
Parkinson Disease and Complex Parkinsonism VPS13A Arianna Tucci reviewed VPS13A
Parkinson Disease and Complex Parkinsonism TUBB4A Arianna Tucci reviewed TUBB4A
Parkinson Disease and Complex Parkinsonism TOR1A Arianna Tucci reviewed TOR1A
Parkinson Disease and Complex Parkinsonism THAP1 Arianna Tucci reviewed THAP1
Parkinson Disease and Complex Parkinsonism TAF1 Arianna Tucci reviewed TAF1
Parkinson Disease and Complex Parkinsonism SYNJ1 Arianna Tucci reviewed SYNJ1
Parkinson Disease and Complex Parkinsonism SPG11 Arianna Tucci reviewed SPG11
Parkinson Disease and Complex Parkinsonism SLC30A10 Arianna Tucci reviewed SLC30A10
Parkinson Disease and Complex Parkinsonism SGCE Arianna Tucci reviewed SGCE
Parkinson Disease and Complex Parkinsonism RAB39B Arianna Tucci reviewed RAB39B
Parkinson Disease and Complex Parkinsonism PRKRA Arianna Tucci reviewed PRKRA
Parkinson Disease and Complex Parkinsonism LRRK2 Arianna Tucci reviewed LRRK2
Parkinson Disease and Complex Parkinsonism GRN Arianna Tucci reviewed GRN
Parkinson Disease and Complex Parkinsonism GNAL Arianna Tucci reviewed GNAL
Parkinson Disease and Complex Parkinsonism DNAJC6 Arianna Tucci reviewed DNAJC6
Parkinson Disease and Complex Parkinsonism CSF1R Arianna Tucci reviewed CSF1R
Parkinson Disease and Complex Parkinsonism SPR Arianna Tucci reviewed SPR
Parkinson Disease and Complex Parkinsonism ATP1A3 Arianna Tucci reviewed ATP1A3
Parkinson Disease and Complex Parkinsonism ANO3 Arianna Tucci reviewed ANO3
Cerebral vascular malformations NIN Alice Gardham added NIN to panel
Cerebral vascular malformations NIN Alice Gardham reviewed NIN