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Cerebral vascular malformations CEP63 Alice Gardham added CEP63 to panel
Cerebral vascular malformations CEP63 Alice Gardham reviewed CEP63
Cerebral vascular malformations CEP152 Alice Gardham added CEP152 to panel
Cerebral vascular malformations CEP152 Alice Gardham reviewed CEP152
Cerebral vascular malformations CENPJ Alice Gardham added CENPJ to panel
Cerebral vascular malformations CENPJ Alice Gardham reviewed CENPJ
Cerebral vascular malformations RBBP8 Alice Gardham added RBBP8 to panel
Cerebral vascular malformations RBBP8 Alice Gardham reviewed RBBP8
Cerebral vascular malformations ATR Alice Gardham added ATR to panel
Cerebral vascular malformations ATR Alice Gardham reviewed ATR
Cerebral vascular malformations TGFB2 Alice Gardham added TGFB2 to panel
Cerebral vascular malformations TGFB2 Alice Gardham reviewed TGFB2
Cerebral vascular malformations SMAD3 Alice Gardham added SMAD3 to panel
Cerebral vascular malformations SMAD3 Alice Gardham reviewed SMAD3
Cerebral vascular malformations TGFBR2 Alice Gardham added TGFBR2 to panel
Cerebral vascular malformations TGFBR2 Alice Gardham reviewed TGFBR2
Cerebral vascular malformations TGFBR1 Alice Gardham added TGFBR1 to panel
Cerebral vascular malformations TGFBR1 Alice Gardham reviewed TGFBR1
Cerebral vascular malformations SMARCAL1 Alice Gardham marked SMARCAL1 as ready
Cerebral vascular malformations SMARCAL1 Alice Gardham classified SMARCAL1 as red
Cerebral vascular malformations SMARCAL1 Alice Gardham added SMARCAL1 to panel
Cerebral vascular malformations SMARCAL1 Alice Gardham reviewed SMARCAL1
Congenital disorders of glycosylation TRAPPC11 Daniel Ungar added TRAPPC11 to panel
Congenital disorders of glycosylation TRAPPC11 Daniel Ungar reviewed TRAPPC11
Cerebral vascular malformations SLC2A10 Ellen McDonagh reviewed SLC2A10
Cerebral vascular malformations COL3A1 Alice Gardham added COL3A1 to panel
Cerebral vascular malformations COL3A1 Alice Gardham reviewed COL3A1
Cerebral vascular malformations FLVCR2 Ellen McDonagh reviewed FLVCR2
Cerebral vascular malformations CECR1 Alice Gardham added CECR1 to panel
Cerebral vascular malformations CECR1 Alice Gardham reviewed CECR1
Cerebral vascular malformations HBB Ellen McDonagh reviewed HBB
Congenital disorders of glycosylation SSR4 Daniel Ungar reviewed SSR4
Cerebral vascular malformations PKD2 Alice Gardham marked PKD2 as ready
Cerebral vascular malformations PKD2 Alice Gardham marked PKD2 as ready
Cerebral vascular malformations PKD2 Alice Gardham added PKD2 to panel
Cerebral vascular malformations PKD2 Alice Gardham reviewed PKD2
Cerebral vascular malformations PKD1 Alice Gardham marked PKD1 as ready
Cerebral vascular malformations PKD1 Alice Gardham classified PKD1 as green
Cerebral vascular malformations PKD1 Alice Gardham classified PKD1 as green
Cerebral vascular malformations PKD1 Alice Gardham added PKD1 to panel
Cerebral vascular malformations PKD1 Alice Gardham reviewed PKD1
Cerebral vascular malformations ACVRL1 Alice Gardham marked ACVRL1 as ready
Cerebral vascular malformations ACVRL1 Alice Gardham added ACVRL1 to panel
Cerebral vascular malformations ACVRL1 Alice Gardham reviewed ACVRL1
Cerebral vascular malformations GDF2 Alice Gardham classified GDF2 as amber
Cerebral vascular malformations SMAD4 Alice Gardham marked SMAD4 as ready
Cerebral vascular malformations SMAD4 Alice Gardham added SMAD4 to panel
Cerebral vascular malformations SMAD4 Alice Gardham reviewed SMAD4
Cerebral vascular malformations GDF2 Alice Gardham marked GDF2 as ready
Cerebral vascular malformations GDF2 Alice Gardham added GDF2 to panel
Cerebral vascular malformations GDF2 Alice Gardham reviewed GDF2
Clefting ARHGAP29 Philip Stanier added ARHGAP29 to panel
Clefting ARHGAP29 Philip Stanier reviewed ARHGAP29
Clefting SUMO1 Philip Stanier reviewed SUMO1
Congenital disorders of glycosylation SLC39A8 Daniel Ungar reviewed SLC39A8
Congenital disorders of glycosylation NUS1 Daniel Ungar reviewed NUS1
Cerebral vascular malformations HBB Alice Gardham classified HBB as green
Cerebral vascular malformations HBB Alice Gardham classified HBB as amber
Cerebral vascular malformations HBB Alice Gardham classified HBB as amber
Cerebral vascular malformations SLC2A10 Alice Gardham classified SLC2A10 as amber
Cerebral vascular malformations SLC2A10 Alice Gardham reviewed SLC2A10
Congenital disorders of glycosylation NGLY1 Daniel Ungar reviewed NGLY1
Congenital disorders of glycosylation GLS Daniel Ungar reviewed GLS
Cerebral vascular malformations SAMHD1 Alice Gardham marked SAMHD1 as ready
Cerebral vascular malformations SAMHD1 Alice Gardham classified SAMHD1 as green
Cerebral vascular malformations SAMHD1 Alice Gardham commented on SAMHD1
Congenital disorders of glycosylation GALNT12 Daniel Ungar reviewed GALNT12
Cerebral vascular malformations SAMHD1 Alice Gardham commented on SAMHD1
Cerebral vascular malformations SAMHD1 Alice Gardham edited their review of SAMHD1
Cerebral vascular malformations SAMHD1 Alice Gardham reviewed SAMHD1
Cerebral vascular malformations THSD1 Ellen McDonagh commented on THSD1
Congenital disorders of glycosylation TMEM199 Daniel Ungar commented on TMEM199
Congenital disorders of glycosylation ATP6AP1 Daniel Ungar added ATP6AP1 to panel
Congenital disorders of glycosylation ATP6AP1 Daniel Ungar reviewed ATP6AP1
Congenital disorders of glycosylation TMEM199 Daniel Ungar reviewed TMEM199
Cerebral vascular malformations THSD1 Ellen McDonagh added THSD1 to panel
Cerebral vascular malformations THSD1 Ellen McDonagh reviewed THSD1
Congenital disorders of glycosylation CCDC115 Daniel Ungar reviewed CCDC115
Congenital disorders of glycosylation ST3GAL3 Daniel Ungar reviewed ST3GAL3
Congenital disorders of glycosylation SLC35A2 Daniel Ungar reviewed SLC35A2
Pityriasis rubra pilaris CARD14 Ellen McDonagh classified CARD14 as amber
Pityriasis rubra pilaris CARD14 Ellen McDonagh commented on CARD14
Congenital disorders of glycosylation MAGT1 Daniel Ungar reviewed MAGT1
Congenital disorders of glycosylation CHSY1 Daniel Ungar reviewed CHSY1
Severe familial anorexia Ellen McDonagh promoted panel to version 1
Congenital disorders of glycosylation GORAB Daniel Ungar added GORAB to panel
Congenital disorders of glycosylation GORAB Daniel Ungar reviewed GORAB
Severe multi-system atopic disease with high IgE DOCK8 William Rae reviewed DOCK8
Congenital disorders of glycosylation CHST14 Daniel Ungar reviewed CHST14
Hereditary haemorrhagic telangiectasia TEK Ellen McDonagh classified TEK as red
Hereditary haemorrhagic telangiectasia TEK Ellen McDonagh added TEK to panel
Hereditary haemorrhagic telangiectasia TEK Ellen McDonagh reviewed TEK
Hereditary haemorrhagic telangiectasia PIK3CA Ellen McDonagh classified PIK3CA as red
Hereditary haemorrhagic telangiectasia PIK3CA Ellen McDonagh added PIK3CA to panel
Hereditary haemorrhagic telangiectasia PIK3CA Ellen McDonagh reviewed PIK3CA
Congenital disorders of glycosylation C1GALT1C1 Daniel Ungar reviewed C1GALT1C1
Hereditary haemorrhagic telangiectasia KRIT1 Ellen McDonagh classified KRIT1 as red
Hereditary haemorrhagic telangiectasia KRIT1 Ellen McDonagh added KRIT1 to panel
Hereditary haemorrhagic telangiectasia KRIT1 Ellen McDonagh reviewed KRIT1
Hereditary haemorrhagic telangiectasia FOXF1 Ellen McDonagh classified FOXF1 as red
Hereditary haemorrhagic telangiectasia FOXF1 Ellen McDonagh added FOXF1 to panel
Hereditary haemorrhagic telangiectasia FOXF1 Ellen McDonagh reviewed FOXF1
Congenital disorders of glycosylation XYLT2 Daniel Ungar added XYLT2 to panel
Congenital disorders of glycosylation XYLT2 Daniel Ungar reviewed XYLT2
Multiple lipomas Ellen McDonagh promoted panel to version 1
Congenital disorders of glycosylation XYLT1 Daniel Ungar added XYLT1 to panel
Congenital disorders of glycosylation XYLT1 Daniel Ungar reviewed XYLT1
Congenital disorders of glycosylation B3GALT6 Daniel Ungar added B3GALT6 to panel
Congenital disorders of glycosylation B3GALT6 Daniel Ungar reviewed B3GALT6
Multiple lipomas MT-TK Ellen McDonagh marked MT-TK as ready
Multiple lipomas MT-TK Ellen McDonagh classified MT-TK as green
Congenital disorders of glycosylation B3GAT3 Daniel Ungar reviewed B3GAT3
Congenital disorders of glycosylation TUSC3 Daniel Ungar reviewed TUSC3
Hereditary haemorrhagic telangiectasia GDF2 Ellen McDonagh classified GDF2 as amber
Congenital disorders of glycosylation TMEM165 Daniel Ungar reviewed TMEM165
Congenital disorders of glycosylation ST3GAL5 Daniel Ungar reviewed ST3GAL5
Congenital disorders of glycosylation SRD5A3 Daniel Ungar reviewed SRD5A3
Congenital disorders of glycosylation SLC35D1 Daniel Ungar reviewed SLC35D1
Congenital disorders of glycosylation SLC35C1 Daniel Ungar reviewed SLC35C1
Congenital disorders of glycosylation RFT1 Daniel Ungar reviewed RFT1
Hereditary haemorrhagic telangiectasia GDF2 Ellen McDonagh classified GDF2 as amber
Hereditary haemorrhagic telangiectasia GDF2 Ellen McDonagh commented on GDF2
Cerebral vascular malformations RNF213 Alice Gardham reviewed RNF213
Cerebral vascular malformations HBB Alice Gardham marked HBB as ready
Cerebral vascular malformations COL4A1 Alice Gardham marked COL4A1 as ready
Cerebral vascular malformations ACTA2 Alice Gardham marked ACTA2 as ready
Cerebral vascular malformations HBB Alice Gardham classified HBB as red
Cerebral vascular malformations GUCY1A3 Alice Gardham marked GUCY1A3 as ready
Congenital disorders of glycosylation PIGT Daniel Ungar added PIGT to panel
Congenital disorders of glycosylation PIGT Daniel Ungar reviewed PIGT
Congenital disorders of glycosylation PIGW Daniel Ungar added PIGW to panel
Congenital disorders of glycosylation PIGW Daniel Ungar reviewed PIGW
Congenital disorders of glycosylation PIGO Daniel Ungar reviewed PIGO
Congenital disorders of glycosylation PIGL Daniel Ungar reviewed PIGL
Congenital disorders of glycosylation PIGV Daniel Ungar reviewed PIGV
Congenital disorders of glycosylation PIGN Daniel Ungar edited their review of PIGN
Congenital disorders of glycosylation PIGN Daniel Ungar reviewed PIGN
Congenital disorders of glycosylation PIGM Daniel Ungar reviewed PIGM
Congenital disorders of glycosylation PGM1 Daniel Ungar reviewed PGM1
Congenital disorders of glycosylation PIGA Daniel Ungar reviewed PIGA
Congenital disorders of glycosylation PGAP3 Daniel Ungar added PGAP3 to panel
Congenital disorders of glycosylation PGAP3 Daniel Ungar reviewed PGAP3
Congenital disorders of glycosylation PGAP2 Daniel Ungar reviewed PGAP2
Rare multisystem ciliopathy disorders IFT122 Ellen McDonagh classified IFT122 as green
Rare multisystem ciliopathy disorders IFT122 Ellen McDonagh classified IFT122 as green
Rare multisystem ciliopathy disorders IFT122 Ellen McDonagh commented on IFT122
Rare multisystem ciliopathy disorders HYLS1 Ellen McDonagh classified HYLS1 as green
Rare multisystem ciliopathy disorders HYLS1 Ellen McDonagh classified HYLS1 as green
Rare multisystem ciliopathy disorders HYLS1 Ellen McDonagh commented on HYLS1
Rare multisystem ciliopathy disorders GLIS2 Ellen McDonagh classified GLIS2 as amber
Rare multisystem ciliopathy disorders GLIS2 Ellen McDonagh commented on GLIS2
Hereditary haemorrhagic telangiectasia RASA1 Sarah Leigh marked RASA1 as ready
Rare multisystem ciliopathy disorders EVC2 Ellen McDonagh classified EVC2 as green
Rare multisystem ciliopathy disorders EVC2 Ellen McDonagh commented on EVC2
Rare multisystem ciliopathy disorders EVC Ellen McDonagh classified EVC as green
Rare multisystem ciliopathy disorders EVC Ellen McDonagh commented on EVC
Hereditary haemorrhagic telangiectasia RASA1 Sarah Leigh classified RASA1 as red
Rare multisystem ciliopathy disorders DYNC2H1 Ellen McDonagh classified DYNC2H1 as green
Rare multisystem ciliopathy disorders DYNC2H1 Ellen McDonagh commented on DYNC2H1
Severe microcephaly PHC1 Rebecca Foulger commented on PHC1
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6
Severe microcephaly WDR4 Rebecca Foulger commented on WDR4
Congenital disorders of glycosylation MPDU1 Daniel Ungar reviewed MPDU1
Congenital disorders of glycosylation MOGS Daniel Ungar reviewed MOGS
Congenital disorders of glycosylation SEC23B Daniel Ungar edited their review of SEC23B
Congenital disorders of glycosylation MGAT2 Daniel Ungar reviewed MGAT2
Congenital disorders of glycosylation MAN1B1 Daniel Ungar reviewed MAN1B1
Severe microcephaly CASC5 Rebecca Foulger commented on CASC5
Congenital disorders of glycosylation LFNG Daniel Ungar reviewed LFNG
Severe microcephaly CENPE Rebecca Foulger commented on CENPE
Severe microcephaly SASS6 Rebecca Foulger commented on SASS6
Severe microcephaly POC1A Rebecca Foulger commented on POC1A
Severe microcephaly NDE1 Rebecca Foulger commented on NDE1
Severe microcephaly CIT Rebecca Foulger commented on CIT
Severe microcephaly CDK6 Rebecca Foulger commented on CDK6
Severe microcephaly ATRIP Rebecca Foulger commented on ATRIP
Severe microcephaly ASPM Rebecca Foulger commented on ASPM
Severe microcephaly ASPM Rebecca Foulger commented on ASPM
Severe microcephaly AGMO Rebecca Foulger commented on AGMO
Congenital disorders of glycosylation SLC35A3 Daniel Ungar added SLC35A3 to panel
Congenital disorders of glycosylation SLC35A3 Daniel Ungar reviewed SLC35A3
Congenital disorders of glycosylation SLC35A1 Daniel Ungar reviewed SLC35A1
Congenital disorders of glycosylation GNE Daniel Ungar reviewed GNE
Congenital disorders of glycosylation PGM3 Daniel Ungar added PGM3 to panel
Congenital disorders of glycosylation PGM3 Daniel Ungar reviewed PGM3
Hereditary haemorrhagic telangiectasia Sarah Leigh promoted panel to version 1
Hereditary haemorrhagic telangiectasia ATM Sarah Leigh marked ATM as ready
Hereditary haemorrhagic telangiectasia SOX18 Sarah Leigh marked SOX18 as ready
Hereditary haemorrhagic telangiectasia SOX18 Sarah Leigh commented on SOX18
Cerebral vascular malformations PTEN Alice Gardham marked PTEN as ready
Cerebral vascular malformations PTEN Alice Gardham reviewed PTEN
Hereditary haemorrhagic telangiectasia RASA1 Sarah Leigh marked RASA1 as ready
Cerebral vascular malformations PCNT Alice Gardham marked PCNT as ready
Cerebral vascular malformations PCNT Alice Gardham classified PCNT as green
Cerebral vascular malformations PCNT Alice Gardham reviewed PCNT
Cerebral vascular malformations NF1 Alice Gardham marked NF1 as ready
Cerebral vascular malformations NF1 Alice Gardham classified NF1 as green
Cerebral vascular malformations NF1 Alice Gardham reviewed NF1
Hereditary haemorrhagic telangiectasia RASA1 Sarah Leigh commented on RASA1
Congenital disorders of glycosylation B3GALNT2 Daniel Ungar added B3GALNT2 to panel
Congenital disorders of glycosylation B3GALNT2 Daniel Ungar reviewed B3GALNT2
Cerebral vascular malformations MYMY3 Alice Gardham marked MYMY3 as ready
Cerebral vascular malformations MYMY3 Alice Gardham reviewed MYMY3
Cerebral vascular malformations MYMY1 Alice Gardham marked MYMY1 as ready
Cerebral vascular malformations MYMY1 Alice Gardham reviewed MYMY1
Cerebral vascular malformations KDR Alice Gardham marked KDR as ready
Congenital disorders of glycosylation POMGNT2 Daniel Ungar added POMGNT2 to panel
Congenital disorders of glycosylation POMGNT2 Daniel Ungar reviewed POMGNT2
Cerebral vascular malformations KDR Alice Gardham reviewed KDR
Congenital disorders of glycosylation GALNT3 Daniel Ungar reviewed GALNT3
Cerebral vascular malformations JAG1 Alice Gardham marked JAG1 as ready
Cerebral vascular malformations JAG1 Alice Gardham classified JAG1 as green
Cerebral vascular malformations JAG1 Alice Gardham reviewed JAG1
Congenital disorders of glycosylation CAD Daniel Ungar reviewed CAD
Cerebral vascular malformations IL6 Alice Gardham marked IL6 as ready
Cerebral vascular malformations IL6 Alice Gardham reviewed IL6
Cerebral vascular malformations HTRA1 Alice Gardham marked HTRA1 as ready
Cerebral vascular malformations HTRA1 Alice Gardham reviewed HTRA1
Cerebral vascular malformations HLA-DRB1 Alice Gardham marked HLA-DRB1 as ready
Cerebral vascular malformations HLA-DRB1 Alice Gardham commented on HLA-DRB1
Cerebral vascular malformations HLA-DQB1 Alice Gardham marked HLA-DQB1 as ready
Cerebral vascular malformations HLA-DQB1 Alice Gardham commented on HLA-DQB1
Cerebral vascular malformations HLA-B Alice Gardham marked HLA-B as ready
Cerebral vascular malformations HLA-B Alice Gardham reviewed HLA-B
Cerebral vascular malformations GNAQ Alice Gardham reviewed GNAQ
Hereditary haemorrhagic telangiectasia GDF2 Sarah Leigh marked GDF2 as ready
Cerebral vascular malformations GLA Alice Gardham marked GLA as ready
Cerebral vascular malformations GLA Alice Gardham reviewed GLA
Cerebral vascular malformations FLVCR2 Alice Gardham reviewed FLVCR2
Congenital disorders of glycosylation MPI Daniel Ungar reviewed MPI
Congenital disorders of glycosylation STT3B Daniel Ungar reviewed STT3B
Congenital disorders of glycosylation ISPD Daniel Ungar added ISPD to panel
Congenital disorders of glycosylation ISPD Daniel Ungar reviewed ISPD
Cerebral vascular malformations FLT4 Alice Gardham marked FLT4 as ready
Cerebral vascular malformations FLT4 Alice Gardham reviewed FLT4
Cerebral vascular malformations ENG Alice Gardham marked ENG as ready
Cerebral vascular malformations ENG Alice Gardham classified ENG as green
Cerebral vascular malformations ENG Alice Gardham reviewed ENG
Congenital disorders of glycosylation GFPT1 Daniel Ungar commented on GFPT1
Congenital disorders of glycosylation GFPT1 Daniel Ungar reviewed GFPT1
Cerebral vascular malformations ELN Alice Gardham reviewed ELN
Congenital disorders of glycosylation ALG14 Daniel Ungar reviewed ALG14
Peeling skin syndrome Rebecca Foulger promoted panel to version 1
Congenital disorders of glycosylation GMPPB Daniel Ungar edited their review of GMPPB
Congenital disorders of glycosylation GMPPB Daniel Ungar added GMPPB to panel
Congenital disorders of glycosylation GMPPB Daniel Ungar reviewed GMPPB
Congenital disorders of glycosylation TMEM5 Daniel Ungar added TMEM5 to panel
Congenital disorders of glycosylation TMEM5 Daniel Ungar reviewed TMEM5
Cerebral vascular malformations CRB1 Alice Gardham marked CRB1 as ready
Cerebral vascular malformations CRB1 Alice Gardham reviewed CRB1
Hereditary haemorrhagic telangiectasia GDF2 Sarah Leigh commented on GDF2
Congenital disorders of glycosylation STT3A Daniel Ungar reviewed STT3A
Cerebral vascular malformations COL4A2 Alice Gardham marked COL4A2 as ready
Cerebral vascular malformations COL4A2 Alice Gardham reviewed COL4A2
Cerebral vascular malformations ATP7A Alice Gardham marked ATP7A as ready
Cerebral vascular malformations ATP7A Alice Gardham reviewed ATP7A
Congenital disorders of glycosylation POMT2 Daniel Ungar reviewed POMT2
Congenital disorders of glycosylation POMT1 Daniel Ungar reviewed POMT1
Congenital disorders of glycosylation POMGNT1 Daniel Ungar reviewed POMGNT1
Congenital disorders of glycosylation LARGE Daniel Ungar reviewed LARGE
Congenital disorders of glycosylation FKRP Daniel Ungar commented on FKRP
Congenital disorders of glycosylation FKTN Daniel Ungar reviewed FKTN
Congenital disorders of glycosylation FKRP Daniel Ungar reviewed FKRP
Cerebral vascular malformations ANTXR1 Alice Gardham marked ANTXR1 as ready
Cerebral vascular malformations ANTXR1 Alice Gardham reviewed ANTXR1
Cerebral vascular malformations ANIB1 Alice Gardham marked ANIB1 as ready
Congenital disorders of glycosylation EXT2 Daniel Ungar reviewed EXT2
Cerebral vascular malformations ANIB1 Alice Gardham reviewed ANIB1
Congenital disorders of glycosylation EXT1 Daniel Ungar reviewed EXT1
Congenital disorders of glycosylation DPM3 Daniel Ungar reviewed DPM3
Rhabdomyolysis and metabolic muscle disorders ISCU Sarah Leigh classified ISCU as green
Congenital disorders of glycosylation DPM2 Daniel Ungar reviewed DPM2
Cerebral vascular malformations ACE Alice Gardham marked ACE as ready
Cerebral vascular malformations ACE Alice Gardham reviewed ACE
Congenital disorders of glycosylation DPM1 Daniel Ungar reviewed DPM1
Cerebral vascular malformations ABCC6 Alice Gardham marked ABCC6 as ready
Cerebral vascular malformations ABCC6 Alice Gardham reviewed ABCC6
Congenital disorders of glycosylation DPAGT1 Daniel Ungar reviewed DPAGT1
Cerebral vascular malformations TEK Alice Gardham marked TEK as ready
Cerebral vascular malformations TEK Alice Gardham classified TEK as red
Cerebral vascular malformations TEK Alice Gardham reviewed TEK
Congenital disorders of glycosylation DOLK Daniel Ungar reviewed DOLK
Congenital disorders of glycosylation DHDDS Daniel Ungar reviewed DHDDS
Congenital disorders of glycosylation COG2 Daniel Ungar added COG2 to panel
Congenital disorders of glycosylation COG2 Daniel Ungar reviewed COG2
Congenital disorders of glycosylation DDOST Daniel Ungar reviewed DDOST
Congenital disorders of glycosylation COG8 Daniel Ungar reviewed COG8
Congenital disorders of glycosylation COG6 Daniel Ungar reviewed COG6
Congenital disorders of glycosylation COG5 Daniel Ungar reviewed COG5
Congenital disorders of glycosylation CHST6 Daniel Ungar reviewed CHST6
Congenital disorders of glycosylation CHST3 Daniel Ungar reviewed CHST3
Hereditary haemorrhagic telangiectasia ATR Sarah Leigh marked ATR as ready
Rare multisystem ciliopathy disorders CEP164 Ellen McDonagh marked CEP164 as ready
Rare multisystem ciliopathy disorders CEP164 Ellen McDonagh classified CEP164 as green
Rare multisystem ciliopathy disorders CEP164 Ellen McDonagh classified CEP164 as green
Rare multisystem ciliopathy disorders CEP164 Ellen McDonagh commented on CEP164
Hereditary haemorrhagic telangiectasia ATR Sarah Leigh commented on ATR
Rare multisystem ciliopathy disorders BBS4 Ellen McDonagh edited their review of BBS4
Rare multisystem ciliopathy disorders CCDC28B Ellen McDonagh classified CCDC28B as amber
Rare multisystem ciliopathy disorders CCDC28B Ellen McDonagh classified CCDC28B as amber
Rare multisystem ciliopathy disorders CCDC28B Ellen McDonagh commented on CCDC28B
Cerebral vascular malformations COL4A1 Alice Gardham classified COL4A1 as red
Cerebral vascular malformations COL4A1 Alice Gardham reviewed COL4A1
Cerebral vascular malformations STAMBP Alice Gardham marked STAMBP as ready
Cerebral vascular malformations STAMBP Alice Gardham reviewed STAMBP
Cerebral vascular malformations SRPX2 Alice Gardham marked SRPX2 as ready
Cerebral vascular malformations SRPX2 Alice Gardham reviewed SRPX2
Cerebral vascular malformations WDR62 Alice Gardham marked WDR62 as ready
Cerebral vascular malformations WDR62 Alice Gardham reviewed WDR62
Cerebral vascular malformations VLDLR Alice Gardham marked VLDLR as ready
Cerebral vascular malformations VLDLR Alice Gardham reviewed VLDLR
Cerebral vascular malformations RTTN Alice Gardham marked RTTN as ready
Cerebral vascular malformations RTTN Alice Gardham commented on RTTN
Cerebral vascular malformations RTTN Alice Gardham commented on RTTN
Cerebral vascular malformations RTTN Alice Gardham reviewed RTTN
Hereditary haemorrhagic telangiectasia GDF2 Sarah Leigh classified GDF2 as red
Cerebral vascular malformations PIK3R2 Alice Gardham marked PIK3R2 as ready
Cerebral vascular malformations PIK3R2 Alice Gardham reviewed PIK3R2
Cerebral vascular malformations PAFAH1B1 Alice Gardham marked PAFAH1B1 as ready
Cerebral vascular malformations PAFAH1B1 Alice Gardham reviewed PAFAH1B1
Cerebral vascular malformations OPHN1 Alice Gardham marked OPHN1 as ready
Cerebral vascular malformations OPHN1 Alice Gardham reviewed OPHN1
Cerebral vascular malformations OCLN Alice Gardham marked OCLN as ready
Cerebral vascular malformations OCLN Alice Gardham reviewed OCLN
Cerebral vascular malformations NDE1 Alice Gardham marked NDE1 as ready
Cerebral vascular malformations NDE1 Alice Gardham reviewed NDE1
Rare multisystem ciliopathy disorders B9D1 Ellen McDonagh classified B9D1 as amber
Rare multisystem ciliopathy disorders B9D1 Ellen McDonagh commented on B9D1
Cerebral vascular malformations DCX Alice Gardham marked DCX as ready
Cerebral vascular malformations DCX Alice Gardham reviewed DCX
Cerebral vascular malformations ADGRG1 Alice Gardham marked ADGRG1 as ready
Cerebral vascular malformations ADGRG1 Alice Gardham reviewed ADGRG1
Peeling skin syndrome TRPV3 David Kelsell reviewed TRPV3
Peeling skin syndrome TP63 David Kelsell reviewed TP63
Peeling skin syndrome KRT2 David Kelsell reviewed KRT2
Peeling skin syndrome KRT10 David Kelsell reviewed KRT10
Peeling skin syndrome KRT1 David Kelsell reviewed KRT1
Peeling skin syndrome EDA David Kelsell reviewed EDA
Peeling skin syndrome CARD14 David Kelsell reviewed CARD14
Cerebral vascular malformations ARX Alice Gardham marked ARX as ready
Cerebral vascular malformations ARX Alice Gardham reviewed ARX
Cerebral vascular malformations POMGNT1 Alice Gardham marked POMGNT1 as ready
Cerebral vascular malformations POMGNT1 Alice Gardham commented on POMGNT1
Hereditary haemorrhagic telangiectasia SMAD4 Sarah Leigh marked SMAD4 as ready
Cerebral vascular malformations POMGNT1 Alice Gardham reviewed POMGNT1
Cerebral vascular malformations LARGE Alice Gardham marked LARGE as ready
Cerebral vascular malformations LARGE Alice Gardham reviewed LARGE
Cerebral vascular malformations LAMC3 Alice Gardham marked LAMC3 as ready
Cerebral vascular malformations LAMC3 Alice Gardham reviewed LAMC3
Cerebral vascular malformations LAMB1 Alice Gardham marked LAMB1 as ready
Cerebral vascular malformations LAMB1 Alice Gardham reviewed LAMB1
Cerebral vascular malformations RELN Alice Gardham marked RELN as ready
Cerebral vascular malformations RELN Alice Gardham reviewed RELN
Hereditary haemorrhagic telangiectasia SMAD4 Sarah Leigh commented on SMAD4
Cerebral vascular malformations TMEM5 Alice Gardham marked TMEM5 as ready
Cerebral vascular malformations TMEM5 Alice Gardham reviewed TMEM5
Cerebral vascular malformations POMT2 Alice Gardham marked POMT2 as ready
Cerebral vascular malformations POMT2 Alice Gardham reviewed POMT2
Cerebral vascular malformations POMT1 Alice Gardham marked POMT1 as ready
Hereditary haemorrhagic telangiectasia ENG Sarah Leigh marked ENG as ready
Cerebral vascular malformations POMT1 Alice Gardham reviewed POMT1
Hereditary haemorrhagic telangiectasia ENG Sarah Leigh commented on ENG
Cerebral vascular malformations TUBG1 Alice Gardham marked TUBG1 as ready
Cerebral vascular malformations TUBG1 Alice Gardham reviewed TUBG1
Cerebral vascular malformations TUBB3 Alice Gardham marked TUBB3 as ready
Cerebral vascular malformations TUBB3 Alice Gardham reviewed TUBB3
Cerebral vascular malformations TUBA8 Alice Gardham marked TUBA8 as ready
Cerebral vascular malformations TUBA8 Alice Gardham reviewed TUBA8
Hereditary haemorrhagic telangiectasia ATM Sarah Leigh classified ATM as red
Cerebral vascular malformations TUBA1A Alice Gardham marked TUBA1A as ready
Cerebral vascular malformations TUBA1A Alice Gardham reviewed TUBA1A
Hereditary haemorrhagic telangiectasia ATM Sarah Leigh commented on ATM
Cerebral vascular malformations TUBB2B Alice Gardham marked TUBB2B as ready
Cerebral vascular malformations TUBB2B Alice Gardham reviewed TUBB2B
Cerebral vascular malformations TUBB2A Alice Gardham marked TUBB2A as ready
Cerebral vascular malformations TUBB2A Alice Gardham reviewed TUBB2A
Hereditary haemorrhagic telangiectasia ACVRL1 Sarah Leigh marked ACVRL1 as ready
Hereditary haemorrhagic telangiectasia ACVRL1 Sarah Leigh commented on ACVRL1
Cerebral vascular malformations TUBB Alice Gardham marked TUBB as ready
Cerebral vascular malformations TUBB Alice Gardham reviewed TUBB
Hereditary haemorrhagic telangiectasia MRE11A Sarah Leigh marked MRE11A as ready
Congenital disorders of glycosylation B4GALT7 Daniel Ungar reviewed B4GALT7
Hereditary haemorrhagic telangiectasia MRE11A Sarah Leigh classified MRE11A as red
Congenital disorders of glycosylation B4GALT1 Daniel Ungar reviewed B4GALT1
Hereditary haemorrhagic telangiectasia MRE11A Sarah Leigh commented on MRE11A
Cerebral vascular malformations PIK3CA Alice Gardham marked PIK3CA as ready
Cerebral vascular malformations PIK3CA Alice Gardham classified PIK3CA as red
Cerebral vascular malformations PIK3CA Alice Gardham reviewed PIK3CA
Cerebral vascular malformations GLMN Alice Gardham marked GLMN as ready
Cerebral vascular malformations GLMN Alice Gardham classified GLMN as red
Cerebral vascular malformations GLMN Alice Gardham reviewed GLMN
Cerebral vascular malformations FOXF1 Alice Gardham marked FOXF1 as ready
Cerebral vascular malformations FOXF1 Alice Gardham classified FOXF1 as red
Cerebral vascular malformations FOXF1 Alice Gardham commented on FOXF1
Cerebral vascular malformations COL4A1 Alice Gardham marked COL4A1 as ready
Cerebral vascular malformations COL4A1 Alice Gardham classified COL4A1 as green
Cerebral vascular malformations COL4A1 Alice Gardham reviewed COL4A1
Cerebral vascular malformations CCM2 Alice Gardham marked CCM2 as ready
Cerebral vascular malformations CCM2 Alice Gardham classified CCM2 as green
Cerebral vascular malformations CCM2 Alice Gardham reviewed CCM2
Cerebral vascular malformations RASA1 Alice Gardham marked RASA1 as ready
Cerebral vascular malformations RASA1 Alice Gardham reviewed RASA1
Cerebral vascular malformations PDCD10 Alice Gardham marked PDCD10 as ready
Cerebral vascular malformations PDCD10 Alice Gardham reviewed PDCD10
Cerebral vascular malformations MEF2C Alice Gardham marked MEF2C as ready
Cerebral vascular malformations MEF2C Alice Gardham classified MEF2C as red
Cerebral vascular malformations MEF2C Alice Gardham commented on MEF2C
Cerebral vascular malformations KRIT1 Alice Gardham marked KRIT1 as ready
Cerebral vascular malformations KRIT1 Alice Gardham reviewed KRIT1
Skeletal dysplasia DFNB31 Louise Daugherty commented on DFNB31
Thoracic dystrophies DFNB31 Louise Daugherty commented on DFNB31
Rare multisystem ciliopathy disorders DFNB31 Louise Daugherty commented on DFNB31
Primary ciliary disorders DFNB31 Louise Daugherty commented on DFNB31
Retinal disorders DFNB31 Louise Daugherty commented on DFNB31
Glaucoma (developmental) DFNB31 Louise Daugherty commented on DFNB31
Monogenic hearing loss DFNB31 Louise Daugherty commented on DFNB31
Hereditary neuropathy KIAA0196 Louise Daugherty commented on KIAA0196
Hereditary spastic paraplegia KIAA0196 Louise Daugherty commented on KIAA0196
Undiagnosed metabolic disorders C10orf2 Louise Daugherty commented on C10orf2
Mitochondrial disorders C10orf2 Louise Daugherty commented on C10orf2
Inherited white matter disorders C10orf2 Louise Daugherty commented on C10orf2
Hereditary ataxia C10orf2 Louise Daugherty commented on C10orf2
Hereditary neuropathy C10orf2 Louise Daugherty commented on C10orf2
Congenital disorders of glycosylation SEC23B Daniel Ungar reviewed SEC23B
Congenital disorders of glycosylation B3GALTL Daniel Ungar reviewed B3GALTL
Intellectual disability ENTHD2 Louise Daugherty commented on ENTHD2
Intellectual disability CCDC23 Louise Daugherty commented on CCDC23
Gastrointestinal neuromuscular disorders SGOL1 Louise Daugherty commented on SGOL1
Skeletal dysplasia SHFM1 Louise Daugherty commented on SHFM1
Congenital muscular dystrophy SEPN1 Louise Daugherty commented on SEPN1
Congenital myopathy SEPN1 Louise Daugherty commented on SEPN1
Intellectual disability KIAA0226 Louise Daugherty commented on KIAA0226
Intellectual disability KIAA0226 Louise Daugherty commented on KIAA0226
Hereditary ataxia KIAA0226 Louise Daugherty commented on KIAA0226
Intellectual disability HDHD1 Louise Daugherty commented on HDHD1
Ectodermal dysplasia without a known gene mutation PVRL4 Louise Daugherty commented on PVRL4
Bilateral congenital or childhood onset cataracts PVRL3 Louise Daugherty commented on PVRL3
Intellectual disability PVRL1 Louise Daugherty commented on PVRL1
Clefting PVRL1 Louise Daugherty commented on PVRL1
Intellectual disability MRE11A Louise Daugherty commented on MRE11A
Hereditary haemorrhagic telangiectasia MRE11A Louise Daugherty commented on MRE11A
Hereditary ataxia MRE11A Louise Daugherty commented on MRE11A
Congenital disorders of glycosylation ATP6V0A2 Daniel Ungar edited their review of ATP6V0A2
Congenital disorders of glycosylation ALG9 Daniel Ungar reviewed ALG9
Hereditary neuropathy MRE11A Louise Daugherty commented on MRE11A
Congenital disorders of glycosylation ALG8 Daniel Ungar reviewed ALG8
Congenital disorders of glycosylation ALG6 Daniel Ungar reviewed ALG6
Congenital disorders of glycosylation PMM2 Daniel Ungar reviewed PMM2
Intellectual disability LINS Louise Daugherty commented on LINS
Intellectual disability LINS Louise Daugherty commented on LINS
Congenital disorders of glycosylation COG7 Daniel Ungar reviewed COG7
Undiagnosed metabolic disorders LARGE Louise Daugherty commented on LARGE
Malformations of cortical development LARGE Louise Daugherty commented on LARGE
Intellectual disability LARGE Louise Daugherty commented on LARGE
Hydrocephalus LARGE Louise Daugherty commented on LARGE
Congenital muscular dystrophy LARGE Louise Daugherty commented on LARGE
Monogenic hearing loss LARGE Louise Daugherty commented on LARGE
Congenital disorders of glycosylation LARGE Louise Daugherty commented on LARGE
Cerebral vascular malformations LARGE Louise Daugherty commented on LARGE
Cerebellar hypoplasia LARGE Louise Daugherty commented on LARGE
Bilateral congenital or childhood onset cataracts LARGE Louise Daugherty commented on LARGE
Intellectual disability KIAA1279 Louise Daugherty commented on KIAA1279
Intellectual disability DDX26B Louise Daugherty commented on DDX26B
Mitochondrial disorders FDX1L Louise Daugherty commented on FDX1L
Cerebral vascular malformations ADGRG1 Ellen McDonagh commented on ADGRG1
Cerebral vascular malformations LARGE Ellen McDonagh commented on LARGE
Hereditary neuropathy ADCK3 Louise Daugherty commented on ADCK3
Hereditary ataxia ADCK3 Louise Daugherty commented on ADCK3
Inherited white matter disorders ADCK3 Louise Daugherty commented on ADCK3
Intellectual disability ADCK3 Louise Daugherty commented on ADCK3
Intellectual disability ADCK3 Louise Daugherty commented on ADCK3
Intellectual disability ADCK3 Louise Daugherty commented on ADCK3
Mitochondrial disorders ADCK3 Louise Daugherty commented on ADCK3
Retinal disorders B3GALTL Louise Daugherty commented on B3GALTL
Retinal disorders B3GALTL Louise Daugherty commented on B3GALTL
Intellectual disability B3GALTL Louise Daugherty commented on B3GALTL
Glaucoma (developmental) B3GALTL Louise Daugherty commented on B3GALTL
Congenital disorders of glycosylation B3GALTL Louise Daugherty commented on B3GALTL
Bilateral congenital or childhood onset cataracts B3GALTL Louise Daugherty commented on B3GALTL
Anophthalmia or microphthalmia B3GALTL Louise Daugherty commented on B3GALTL
Unexplained kidney failure in young people KAL1 Louise Daugherty commented on KAL1
Hypogonadotropic hypogonadism KAL1 Louise Daugherty commented on KAL1
CAKUT KAL1 Louise Daugherty commented on KAL1
Hereditary spastic paraplegia SPG9 Louise Daugherty commented on SPG9
Congenital disorders of glycosylation ATP6V0A2 Daniel Ungar reviewed ATP6V0A2
Congenital disorders of glycosylation ALG12 Daniel Ungar edited their review of ALG12
Congenital disorders of glycosylation ALG3 Daniel Ungar reviewed ALG3
Congenital disorders of glycosylation ALG2 Daniel Ungar reviewed ALG2
Congenital disorders of glycosylation ALG13 Daniel Ungar reviewed ALG13
Congenital disorders of glycosylation ALG12 Daniel Ungar reviewed ALG12
Congenital disorders of glycosylation ALG11 Daniel Ungar reviewed ALG11
Congenital disorders of glycosylation COG1 Daniel Ungar commented on COG1
Congenital disorders of glycosylation COG4 Daniel Ungar commented on COG4
Congenital disorders of glycosylation COG1 Daniel Ungar edited their review of COG1
Congenital disorders of glycosylation COG4 Daniel Ungar reviewed COG4
Congenital disorders of glycosylation COG1 Daniel Ungar reviewed COG1
Congenital disorders of glycosylation ALG1 Daniel Ungar reviewed ALG1
Parkinson Disease and Complex Parkinsonism HTRA2 Ellen McDonagh classified HTRA2 as red
Parkinson Disease and Complex Parkinsonism HTRA2 Ellen McDonagh classified HTRA2 as red
Parkinson Disease and Complex Parkinsonism GIGYF2 Ellen McDonagh classified GIGYF2 as red
Fetal hydrops PIEZO1 Tessa Homfray reviewed PIEZO1
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as amber
Fetal hydrops FOXP3 Tessa Homfray reviewed FOXP3
Parkinson Disease and Complex Parkinsonism CHCHD2 Ellen McDonagh commented on CHCHD2
Parkinson Disease and Complex Parkinsonism CHCHD2 Ellen McDonagh classified CHCHD2 as amber
Parkinson Disease and Complex Parkinsonism ATXN3 Ellen McDonagh classified ATXN3 as red
Parkinson Disease and Complex Parkinsonism ATXN2 Ellen McDonagh classified ATXN2 as red
Parkinson Disease and Complex Parkinsonism VPS35 Ellen McDonagh classified VPS35 as green
Parkinson Disease and Complex Parkinsonism VPS13A Ellen McDonagh classified VPS13A as green
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh classified TOR1A as red
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh classified THAP1 as red
Parkinson Disease and Complex Parkinsonism SYNJ1 Ellen McDonagh classified SYNJ1 as green
Parkinson Disease and Complex Parkinsonism SPG11 Ellen McDonagh classified SPG11 as green
Parkinson Disease and Complex Parkinsonism SLC30A10 Ellen McDonagh classified SLC30A10 as green
Parkinson Disease and Complex Parkinsonism SGCE Ellen McDonagh classified SGCE as red
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh classified RAB39B as green
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh classified PRKRA as green
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as green
Parkinson Disease and Complex Parkinsonism GRN Ellen McDonagh classified GRN as green
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh classified GNAL as red
Early onset dystonia GNAL Ellen McDonagh commented on GNAL
Parkinson Disease and Complex Parkinsonism DNAJC6 Ellen McDonagh classified DNAJC6 as green
Early onset dystonia SPR Ellen McDonagh commented on SPR
Parkinson Disease and Complex Parkinsonism ANO3 Ellen McDonagh classified ANO3 as red
Cerebral folate deficiency Sarah Leigh promoted panel to version 1
Cerebral vascular malformations HBB Alice Gardham added HBB to panel
Cerebral vascular malformations HBB Alice Gardham reviewed HBB
Cerebral vascular malformations BRCC3 Alice Gardham marked BRCC3 as ready
Cerebral vascular malformations BRCC3 Alice Gardham reviewed BRCC3
Cerebral vascular malformations GUCY1A3 Alice Gardham classified GUCY1A3 as green
Cerebral vascular malformations GUCY1A3 Alice Gardham reviewed GUCY1A3
Familial cerebral small vessel disease CST3 Ellen McDonagh commented on CST3
Cerebral vascular malformations NOTCH3 Alice Gardham marked NOTCH3 as ready
Cerebral vascular malformations NOTCH3 Alice Gardham classified NOTCH3 as green
Cerebral vascular malformations NOTCH3 Alice Gardham reviewed NOTCH3
Cerebral vascular malformations ACTA2 Alice Gardham classified ACTA2 as green
Cerebral folate deficiency SLC46A1 Sarah Leigh marked SLC46A1 as ready
Cerebral folate deficiency SLC46A1 Sarah Leigh commented on SLC46A1
Familial dysautonomia TECPR2 Horacio Kaufmann reviewed TECPR2
Familial dysautonomia DNMT1 Horacio Kaufmann reviewed DNMT1
Familial dysautonomia ATL3 Horacio Kaufmann reviewed ATL3
Familial dysautonomia ATL1 Horacio Kaufmann reviewed ATL1
Familial dysautonomia WNK1 Horacio Kaufmann reviewed WNK1
Familial dysautonomia TTR Horacio Kaufmann reviewed TTR
Familial dysautonomia SPTLC2 Horacio Kaufmann reviewed SPTLC2
Familial dysautonomia SPTLC1 Horacio Kaufmann reviewed SPTLC1
Familial dysautonomia SCN9A Horacio Kaufmann reviewed SCN9A
Familial dysautonomia SCN11A Horacio Kaufmann reviewed SCN11A
Familial dysautonomia PRNP Horacio Kaufmann reviewed PRNP
Familial dysautonomia PRDM12 Horacio Kaufmann reviewed PRDM12
Familial dysautonomia NTRK1 Horacio Kaufmann reviewed NTRK1
Familial dysautonomia NGF Horacio Kaufmann reviewed NGF
Familial dysautonomia KIF1A Horacio Kaufmann reviewed KIF1A
Familial dysautonomia IKBKAP Horacio Kaufmann reviewed IKBKAP
Familial dysautonomia GMPPA Horacio Kaufmann reviewed GMPPA
Familial dysautonomia FAM134B Horacio Kaufmann reviewed FAM134B
Familial dysautonomia DST Horacio Kaufmann reviewed DST
Familial dysautonomia AAAS Horacio Kaufmann reviewed AAAS
Malformations of cortical development TUBA8 Usha Kini reviewed TUBA8
Malformations of cortical development RELN Usha Kini reviewed RELN
Malformations of cortical development RELN Usha Kini reviewed RELN
Malformations of cortical development LAMB1 Usha Kini added LAMB1 to panel
Malformations of cortical development LAMB1 Usha Kini reviewed LAMB1
Malformations of cortical development LAMC3 Usha Kini reviewed LAMC3
Malformations of cortical development NEDD4L Usha Kini added NEDD4L to panel
Malformations of cortical development NEDD4L Usha Kini reviewed NEDD4L
Malformations of cortical development LARGE Usha Kini added LARGE to panel
Malformations of cortical development LARGE Usha Kini reviewed LARGE
Malformations of cortical development FKRP Usha Kini added FKRP to panel
Malformations of cortical development FKRP Usha Kini reviewed FKRP
Malformations of cortical development POMGNT1 Usha Kini added POMGNT1 to panel
Malformations of cortical development POMGNT1 Usha Kini reviewed POMGNT1
Malformations of cortical development POMT2 Usha Kini added POMT2 to panel
Malformations of cortical development POMT2 Usha Kini reviewed POMT2
Cerebral folate deficiency SLC46A1 Sarah Leigh classified SLC46A1 as green
Malformations of cortical development POMT1 Usha Kini added POMT1 to panel
Malformations of cortical development POMT1 Usha Kini reviewed POMT1
Malformations of cortical development KIF5C Usha Kini reviewed KIF5C
Cerebral folate deficiency MTHFR Sarah Leigh marked MTHFR as ready
Cerebral folate deficiency MTHFR Sarah Leigh classified MTHFR as green
Malformations of cortical development KIF2A Usha Kini reviewed KIF2A
Cerebral folate deficiency MTHFR Sarah Leigh commented on MTHFR
Malformations of cortical development WDR62 Usha Kini added WDR62 to panel
Malformations of cortical development WDR62 Usha Kini reviewed WDR62
Cerebral folate deficiency DHFR Sarah Leigh marked DHFR as ready
Cerebral folate deficiency DHFR Sarah Leigh commented on DHFR
Malformations of cortical development PIK3R2 Usha Kini added PIK3R2 to panel
Malformations of cortical development PIK3R2 Usha Kini reviewed PIK3R2
Malformations of cortical development AKT3 Usha Kini added AKT3 to panel
Malformations of cortical development AKT3 Usha Kini reviewed AKT3
Malformations of cortical development PIK3CA Usha Kini added PIK3CA to panel
Malformations of cortical development PIK3CA Usha Kini reviewed PIK3CA
Malformations of cortical development ARFGEF2 Usha Kini added ARFGEF2 to panel
Malformations of cortical development ARFGEF2 Usha Kini reviewed ARFGEF2
Malformations of cortical development ACTG1 Usha Kini added ACTG1 to panel
Malformations of cortical development ACTG1 Usha Kini reviewed ACTG1
Malformations of cortical development ACTB Usha Kini added ACTB to panel
Malformations of cortical development ACTB Usha Kini reviewed ACTB
Malformations of cortical development DYNC1H1 Usha Kini added DYNC1H1 to panel
Malformations of cortical development DYNC1H1 Usha Kini reviewed DYNC1H1
Familial dysautonomia DST Alice Gardham marked DST as ready
Familial dysautonomia DST Alice Gardham classified DST as red
Familial dysautonomia DST Alice Gardham commented on DST
Clefting FSHMD1A Usha Kini reviewed FSHMD1A
Clefting NEDD4L Usha Kini edited their review of NEDD4L
Clefting UBB Usha Kini reviewed UBB
Clefting SPECC1L Usha Kini reviewed SPECC1L
Clefting SLC26A2 Usha Kini reviewed SLC26A2
Clefting KDM1A Usha Kini reviewed KDM1A
Clefting HOXA2 Usha Kini reviewed HOXA2
Clefting GYPE Usha Kini reviewed GYPE
Clefting FLNB Usha Kini reviewed FLNB
Clefting FLNA Usha Kini reviewed FLNA
Clefting DLX4 Usha Kini reviewed DLX4
IUGR and IGF abnormalities IGF2 Ellen McDonagh commented on IGF2
Clefting COL9A2 Usha Kini reviewed COL9A2
Clefting COL9A1 Usha Kini reviewed COL9A1
Clefting ANKRD11 Usha Kini reviewed ANKRD11
Clefting KDM6A Usha Kini added KDM6A to panel
Clefting KDM6A Usha Kini reviewed KDM6A
Clefting KMT2D Usha Kini added KMT2D to panel
Clefting KMT2D Usha Kini reviewed KMT2D
Clefting COL11A2 Usha Kini reviewed COL11A2
Clefting COL11A1 Usha Kini reviewed COL11A1
Clefting COL2A1 Usha Kini reviewed COL2A1
Clefting MEIS2 Usha Kini added MEIS2 to panel
Clefting MEIS2 Usha Kini reviewed MEIS2
Clefting NEDD4L Usha Kini added NEDD4L to panel
Clefting NEDD4L Usha Kini reviewed NEDD4L
Clefting SUMO1 Usha Kini reviewed SUMO1
Clefting BMP4 Usha Kini reviewed BMP4
Clefting SOX9 Usha Kini reviewed SOX9
Clefting MSX1 Usha Kini reviewed MSX1
Clefting TBX22 Usha Kini reviewed TBX22
Clefting SATB2 Usha Kini reviewed SATB2
Clefting PVRL1 Usha Kini reviewed PVRL1
Clefting TP63 Usha Kini edited their review of TP63
Clefting TP63 Usha Kini reviewed TP63
Clefting IRF6 Usha Kini reviewed IRF6
Bilateral congenital or childhood onset cataracts PVRL3 Ellen McDonagh edited their review of PVRL3
Intellectual disability LINS Ellen McDonagh edited their review of LINS
Haematuria COL4A1 John Sayer added COL4A1 to panel
Haematuria COL4A1 John Sayer reviewed COL4A1
Cystic kidney disease COL4A1 John Sayer added COL4A1 to panel
Cystic kidney disease COL4A1 John Sayer reviewed COL4A1
Intracerebral calcification disorders XPR1 Ellen McDonagh marked XPR1 as ready
Intracerebral calcification disorders XPR1 Ellen McDonagh classified XPR1 as green
Intracerebral calcification disorders XPR1 Ellen McDonagh commented on XPR1
Intracerebral calcification disorders JAM3 Ellen McDonagh classified JAM3 as amber
Intracerebral calcification disorders TREM2 Ellen McDonagh classified TREM2 as amber
Intracerebral calcification disorders TREM2 Ellen McDonagh classified TREM2 as red
Intracerebral calcification disorders TREM2 Ellen McDonagh commented on TREM2
Intellectual disability OCLN Ellen McDonagh commented on OCLN
Intracerebral calcification disorders OCLN Ellen McDonagh marked OCLN as ready
Intracerebral calcification disorders OCLN Ellen McDonagh edited their review of OCLN
Intracerebral calcification disorders OCLN Ellen McDonagh classified OCLN as green
Intracerebral calcification disorders OCLN Ellen McDonagh commented on OCLN
Intracerebral calcification disorders MAT1A Ellen McDonagh classified MAT1A as red
Intracerebral calcification disorders MAT1A Ellen McDonagh commented on MAT1A
Intracerebral calcification disorders JAM3 Ellen McDonagh classified JAM3 as red
Intracerebral calcification disorders JAM3 Ellen McDonagh commented on JAM3
CAKUT TBX18 John Sayer reviewed TBX18
Cystic kidney disease GANAB John Sayer added GANAB to panel
Cystic kidney disease GANAB John Sayer reviewed GANAB
Cystic kidney disease CEP290 John Sayer reviewed CEP290
CAKUT PAX2 John Sayer reviewed PAX2
CAKUT HNF1B John Sayer reviewed HNF1B
Sudden death in young people MYLK2 Rebecca Foulger classified MYLK2 as grey
Sudden death in young people MYLK2 Rebecca Foulger commented on MYLK2
Sudden death in young people CTNNA3 Rebecca Foulger commented on CTNNA3
Sudden death in young people CTNNA3 Rebecca Foulger classified CTNNA3 as grey
Sudden death in young people TMPO Rebecca Foulger classified TMPO as grey
Sudden death in young people TMPO Rebecca Foulger commented on TMPO
Sudden death in young people SLC25A4 Rebecca Foulger classified SLC25A4 as grey
Sudden death in young people SLC25A4 Rebecca Foulger commented on SLC25A4
Sudden death in young people SCN4B Rebecca Foulger classified SCN4B as grey
Sudden death in young people SCN4B Rebecca Foulger commented on SCN4B
Sudden death in young people NKX2-5 Rebecca Foulger classified NKX2-5 as grey
Sudden death in young people NKX2-5 Rebecca Foulger commented on NKX2-5
Sudden death in young people MT-CYB Rebecca Foulger classified MT-CYB as grey
Sudden death in young people MT-CYB Rebecca Foulger commented on MT-CYB
Sudden death in young people IL6 Rebecca Foulger classified IL6 as grey
Sudden death in young people IL6 Rebecca Foulger commented on IL6
Sudden death in young people IL10 Rebecca Foulger classified IL10 as grey
Sudden death in young people IL10 Rebecca Foulger commented on IL10
Sudden death in young people FEV Rebecca Foulger classified FEV as grey
Sudden death in young people FEV Rebecca Foulger commented on FEV
Sudden death in young people CAV3 Rebecca Foulger classified CAV3 as grey
Sudden death in young people CAV3 Rebecca Foulger commented on CAV3
Sudden death in young people AQP4 Rebecca Foulger classified AQP4 as grey
Sudden death in young people AQP4 Rebecca Foulger commented on AQP4
Sudden death in young people AKAP9 Rebecca Foulger classified AKAP9 as grey
Sudden death in young people AKAP9 Rebecca Foulger commented on AKAP9
Sudden death in young people AKAP10 Rebecca Foulger commented on AKAP10
Sudden death in young people AKAP10 Rebecca Foulger classified AKAP10 as grey
Cerebral folate deficiency DHFR Sarah Leigh classified DHFR as green
Cerebral folate deficiency FOLR1 Sarah Leigh marked FOLR1 as ready
Cerebral folate deficiency FOLR1 Sarah Leigh commented on FOLR1
Sudden death in young people KCND3 Rebecca Foulger commented on KCND3
Sudden death in young people CACNA2D1 Rebecca Foulger commented on CACNA2D1
Sudden death in young people KCNJ8 Rebecca Foulger commented on KCNJ8
Radial dysplasia SHOX Rebecca Foulger commented on SHOX
Periodic fever syndromes NLRP3 Tracy Briggs reviewed NLRP3
Periodic fever syndromes TNFRSF1A Tracy Briggs reviewed TNFRSF1A
Periodic fever syndromes MVK Tracy Briggs reviewed MVK
Periodic fever syndromes MEFV Tracy Briggs reviewed MEFV
Rhabdomyolysis and metabolic muscle disorders TYMP Sarah Leigh marked TYMP as ready
Rhabdomyolysis and metabolic muscle disorders CPT2 Sarah Leigh marked CPT2 as ready
Rhabdomyolysis and metabolic muscle disorders ISCU Sarah Leigh marked ISCU as ready
Rhabdomyolysis and metabolic muscle disorders ISCU Sarah Leigh commented on ISCU
Rhabdomyolysis and metabolic muscle disorders TYMP Sarah Leigh commented on TYMP
Rhabdomyolysis and metabolic muscle disorders TSEN54 Sarah Leigh marked TSEN54 as ready
Sudden death in young people PHOX2B Alice Gardham commented on PHOX2B
Rhabdomyolysis and metabolic muscle disorders TK2 Sarah Leigh marked TK2 as ready
Rhabdomyolysis and metabolic muscle disorders SUCLA2 Sarah Leigh marked SUCLA2 as ready
Intellectual disability DIP2B Alice Gardham commented on DIP2B
Intellectual disability CSTB Alice Gardham commented on CSTB
Rhabdomyolysis and metabolic muscle disorders SLC22A5 Sarah Leigh marked SLC22A5 as ready
Rhabdomyolysis and metabolic muscle disorders SLC22A5 Sarah Leigh commented on SLC22A5
Rhabdomyolysis and metabolic muscle disorders SIL1 Sarah Leigh marked SIL1 as ready
Rhabdomyolysis and metabolic muscle disorders RYR1 Sarah Leigh marked RYR1 as ready
Rhabdomyolysis and metabolic muscle disorders RYR1 Sarah Leigh commented on RYR1
Intellectual disability AFF2 Alice Gardham commented on AFF2
Rhabdomyolysis and metabolic muscle disorders PYGM Sarah Leigh marked PYGM as ready
Rhabdomyolysis and metabolic muscle disorders PYGM Sarah Leigh commented on PYGM
Rhabdomyolysis and metabolic muscle disorders POLG2 Sarah Leigh marked POLG2 as ready
Intellectual disability DMPK Alice Gardham commented on DMPK
Hypertrophic cardiomyopathy FXN Alice Gardham commented on FXN
Intellectual disability FMR1 Alice Gardham commented on FMR1
Rhabdomyolysis and metabolic muscle disorders PHKB Sarah Leigh marked PHKB as ready
Rhabdomyolysis and metabolic muscle disorders PHKA1 Sarah Leigh marked PHKA1 as ready
Rhabdomyolysis and metabolic muscle disorders PHKA1 Sarah Leigh commented on PHKA1
Primary ovarian insufficiency FMR1 Alice Gardham commented on FMR1
Rhabdomyolysis and metabolic muscle disorders PGM1 Sarah Leigh marked PGM1 as ready
Rhabdomyolysis and metabolic muscle disorders PGM1 Sarah Leigh commented on PGM1
Rhabdomyolysis and metabolic muscle disorders PGK1 Sarah Leigh marked PGK1 as ready
Rhabdomyolysis and metabolic muscle disorders PGK1 Sarah Leigh commented on PGK1
Rhabdomyolysis and metabolic muscle disorders PGAM2 Sarah Leigh marked PGAM2 as ready
Rhabdomyolysis and metabolic muscle disorders PGAM2 Sarah Leigh commented on PGAM2
Rhabdomyolysis and metabolic muscle disorders PFKM Sarah Leigh marked PFKM as ready
Rhabdomyolysis and metabolic muscle disorders PFKM Sarah Leigh commented on PFKM
Rhabdomyolysis and metabolic muscle disorders LPIN1 Sarah Leigh marked LPIN1 as ready
Rhabdomyolysis and metabolic muscle disorders LPIN1 Sarah Leigh commented on LPIN1
Rhabdomyolysis and metabolic muscle disorders LDHA Sarah Leigh marked LDHA as ready
Rhabdomyolysis and metabolic muscle disorders LDHA Sarah Leigh commented on LDHA
Rhabdomyolysis and metabolic muscle disorders LAMP2 Sarah Leigh marked LAMP2 as ready
Rhabdomyolysis and metabolic muscle disorders HADHB Sarah Leigh marked HADHB as ready
Rhabdomyolysis and metabolic muscle disorders HADHB Sarah Leigh commented on HADHB
Peeling skin syndrome TGM5 Rebecca Foulger classified TGM5 as green
Peeling skin syndrome TGM5 Rebecca Foulger commented on TGM5
Rhabdomyolysis and metabolic muscle disorders HADHA Sarah Leigh marked HADHA as ready
Rhabdomyolysis and metabolic muscle disorders GYS1 Sarah Leigh marked GYS1 as ready
Rhabdomyolysis and metabolic muscle disorders GYS1 Sarah Leigh commented on GYS1
Peeling skin syndrome SERPINB8 Rebecca Foulger marked SERPINB8 as ready
Peeling skin syndrome CSTA Rebecca Foulger marked CSTA as ready
Peeling skin syndrome CDSN Rebecca Foulger marked CDSN as ready
Peeling skin syndrome CAST Rebecca Foulger marked CAST as ready
Rhabdomyolysis and metabolic muscle disorders GBE1 Sarah Leigh marked GBE1 as ready
Rhabdomyolysis and metabolic muscle disorders GBE1 Sarah Leigh commented on GBE1
Hereditary ataxia TBP Alice Gardham commented on TBP
Hereditary ataxia ATXN7 Alice Gardham commented on ATXN7
Hereditary ataxia ATXN3 Alice Gardham commented on ATXN3
Parkinson Disease and Complex Parkinsonism HTT Alice Gardham commented on HTT
Differences in sex development NR0B1 Sarah Leigh marked NR0B1 as ready
Hereditary ataxia ATXN10 Alice Gardham commented on ATXN10
Ocular coloboma MAB21L2 David FitzPatrick reviewed MAB21L2
Ocular coloboma YAP1 David FitzPatrick reviewed YAP1
Rhabdomyolysis and metabolic muscle disorders GAA Sarah Leigh marked GAA as ready
Rhabdomyolysis and metabolic muscle disorders GAA Sarah Leigh commented on GAA
Rhabdomyolysis and metabolic muscle disorders FKTN Sarah Leigh marked FKTN as ready
Rhabdomyolysis and metabolic muscle disorders FKRP Sarah Leigh marked FKRP as ready
Rhabdomyolysis and metabolic muscle disorders ETFDH Sarah Leigh marked ETFDH as ready
Rhabdomyolysis and metabolic muscle disorders ETFDH Sarah Leigh commented on ETFDH
Rhabdomyolysis and metabolic muscle disorders ETFB Sarah Leigh marked ETFB as ready
Rhabdomyolysis and metabolic muscle disorders ETFB Sarah Leigh commented on ETFB
Rhabdomyolysis and metabolic muscle disorders ETFA Sarah Leigh marked ETFA as ready
Rhabdomyolysis and metabolic muscle disorders ETFA Sarah Leigh commented on ETFA
Rhabdomyolysis and metabolic muscle disorders ENO3 Sarah Leigh marked ENO3 as ready
Rhabdomyolysis and metabolic muscle disorders ENO3 Sarah Leigh commented on ENO3
Peeling skin syndrome CSTA Rebecca Foulger classified CSTA as green
Peeling skin syndrome CSTA Rebecca Foulger commented on CSTA
Rhabdomyolysis and metabolic muscle disorders DYSF Sarah Leigh marked DYSF as ready
Peeling skin syndrome CDSN Rebecca Foulger classified CDSN as green
Peeling skin syndrome CAST Rebecca Foulger classified CAST as green
Rhabdomyolysis and metabolic muscle disorders DMD Sarah Leigh marked DMD as ready
Peeling skin syndrome SERPINB8 Rebecca Foulger classified SERPINB8 as green
Peeling skin syndrome SERPINB8 Rebecca Foulger commented on SERPINB8
Rhabdomyolysis and metabolic muscle disorders CPT2 Sarah Leigh edited their review of CPT2
Rhabdomyolysis and metabolic muscle disorders CPT2 Sarah Leigh classified CPT2 as red
Rhabdomyolysis and metabolic muscle disorders CPT2 Sarah Leigh classified CPT2 as red
Rhabdomyolysis and metabolic muscle disorders CPT2 Sarah Leigh commented on CPT2
Rhabdomyolysis and metabolic muscle disorders ANO5 Sarah Leigh marked ANO5 as ready
Rhabdomyolysis and metabolic muscle disorders ANO5 Sarah Leigh marked ANO5 as ready
Peeling skin syndrome CHST8 Rebecca Foulger marked CHST8 as ready
Holoprosencephaly DLL1 Richard Scott added DLL1 to panel
Holoprosencephaly DLL1 Richard Scott reviewed DLL1
Holoprosencephaly DISP1 Richard Scott added DISP1 to panel
Holoprosencephaly DISP1 Richard Scott reviewed DISP1
Holoprosencephaly FGF8 Richard Scott added FGF8 to panel
Holoprosencephaly FGF8 Richard Scott reviewed FGF8
Holoprosencephaly SUFU Richard Scott added SUFU to panel
Holoprosencephaly SUFU Richard Scott reviewed SUFU
Rhabdomyolysis and metabolic muscle disorders AMPD1 Sarah Leigh marked AMPD1 as ready
Rhabdomyolysis and metabolic muscle disorders AMPD1 Sarah Leigh commented on AMPD1
Rhabdomyolysis and metabolic muscle disorders AMPD1 Sarah Leigh classified AMPD1 as red
Holoprosencephaly FGFR1 Richard Scott added FGFR1 to panel
Holoprosencephaly FGFR1 Richard Scott reviewed FGFR1
Rhabdomyolysis and metabolic muscle disorders AGL Sarah Leigh marked AGL as ready
Cerebral vascular malformations ACTA2 Alice Gardham reviewed ACTA2
Rhabdomyolysis and metabolic muscle disorders ALDOA Sarah Leigh marked ALDOA as ready
Rhabdomyolysis and metabolic muscle disorders ALDOA Sarah Leigh commented on ALDOA
Peeling skin syndrome CHST8 Rebecca Foulger commented on CHST8
Peeling skin syndrome CDSN Rebecca Foulger reviewed CDSN
Rhabdomyolysis and metabolic muscle disorders ACADVL Sarah Leigh marked ACADVL as ready
Rhabdomyolysis and metabolic muscle disorders AGL Sarah Leigh commented on AGL
Hereditary ataxia NOP56 Alice Gardham commented on NOP56
Rhabdomyolysis and metabolic muscle disorders ACADVL Sarah Leigh commented on ACADVL
Rhabdomyolysis and metabolic muscle disorders ACADM Sarah Leigh marked ACADM as ready
Rhabdomyolysis and metabolic muscle disorders ACADM Sarah Leigh commented on ACADM
Rhabdomyolysis and metabolic muscle disorders ACAD9 Sarah Leigh marked ACAD9 as ready
Hereditary ataxia ATN1 Alice Gardham commented on ATN1
Rhabdomyolysis and metabolic muscle disorders TSEN54 Sarah Leigh added TSEN54 to panel
Rhabdomyolysis and metabolic muscle disorders TSEN54 Sarah Leigh reviewed TSEN54
Rhabdomyolysis and metabolic muscle disorders SIL1 Sarah Leigh added SIL1 to panel
Rhabdomyolysis and metabolic muscle disorders SIL1 Sarah Leigh reviewed SIL1
Skeletal Muscle Channelopathies CNBP Alice Gardham classified CNBP as red
Skeletal Muscle Channelopathies CNBP Alice Gardham commented on CNBP
Peeling skin syndrome CAST Rebecca Foulger commented on CAST
Rhabdomyolysis and metabolic muscle disorders FKTN Sarah Leigh added FKTN to panel
Rhabdomyolysis and metabolic muscle disorders FKTN Sarah Leigh reviewed FKTN
Rhabdomyolysis and metabolic muscle disorders DYSF Sarah Leigh added DYSF to panel
Rhabdomyolysis and metabolic muscle disorders DYSF Sarah Leigh reviewed DYSF
Rhabdomyolysis and metabolic muscle disorders ANO5 Sarah Leigh added ANO5 to panel
Rhabdomyolysis and metabolic muscle disorders ANO5 Sarah Leigh reviewed ANO5
Peeling skin syndrome CAST Rebecca Foulger commented on CAST
Rhabdomyolysis and metabolic muscle disorders FKRP Sarah Leigh added FKRP to panel
Rhabdomyolysis and metabolic muscle disorders FKRP Sarah Leigh reviewed FKRP
Rhabdomyolysis and metabolic muscle disorders DMD Sarah Leigh added DMD to panel
Rhabdomyolysis and metabolic muscle disorders DMD Sarah Leigh reviewed DMD
Rhabdomyolysis and metabolic muscle disorders LAMP2 Sarah Leigh added LAMP2 to panel
Rhabdomyolysis and metabolic muscle disorders LAMP2 Sarah Leigh reviewed LAMP2
Familial dysautonomia Alice Gardham promoted panel to version 1
Rhabdomyolysis and metabolic muscle disorders TYMP Sarah Leigh added TYMP to panel
Rhabdomyolysis and metabolic muscle disorders TYMP Sarah Leigh reviewed TYMP
Familial dysautonomia PHOX2B Alice Gardham classified PHOX2B as green
Familial dysautonomia SCN11A Alice Gardham edited their review of SCN11A
Rhabdomyolysis and metabolic muscle disorders TK2 Sarah Leigh added TK2 to panel
Rhabdomyolysis and metabolic muscle disorders TK2 Sarah Leigh reviewed TK2
Rhabdomyolysis and metabolic muscle disorders SUCLA2 Sarah Leigh added SUCLA2 to panel
Rhabdomyolysis and metabolic muscle disorders SUCLA2 Sarah Leigh reviewed SUCLA2
Rhabdomyolysis and metabolic muscle disorders RRM2B Sarah Leigh added RRM2B to panel
Rhabdomyolysis and metabolic muscle disorders RRM2B Sarah Leigh reviewed RRM2B
Rhabdomyolysis and metabolic muscle disorders POLG2 Sarah Leigh added POLG2 to panel
Rhabdomyolysis and metabolic muscle disorders POLG2 Sarah Leigh reviewed POLG2
Rhabdomyolysis and metabolic muscle disorders POLG Sarah Leigh added POLG to panel
Rhabdomyolysis and metabolic muscle disorders POLG Sarah Leigh reviewed POLG
Sudden death in young people TSPYL1 Rebecca Foulger commented on TSPYL1
Familial dysautonomia PHOX2B Alice Gardham marked PHOX2B as ready
Familial dysautonomia PHOX2B Alice Gardham classified PHOX2B as red
Familial dysautonomia PHOX2B Alice Gardham added PHOX2B to panel
Familial dysautonomia PHOX2B Alice Gardham reviewed PHOX2B
Rhabdomyolysis and metabolic muscle disorders HADHA Sarah Leigh commented on HADHA
Rhabdomyolysis and metabolic muscle disorders ACAD9 Sarah Leigh added ACAD9 to panel
Rhabdomyolysis and metabolic muscle disorders ACAD9 Sarah Leigh reviewed ACAD9
Rhabdomyolysis and metabolic muscle disorders PRKAG2 Sarah Leigh added PRKAG2 to panel
Rhabdomyolysis and metabolic muscle disorders PRKAG2 Sarah Leigh reviewed PRKAG2
Rhabdomyolysis and metabolic muscle disorders PHKB Sarah Leigh added PHKB to panel
Rhabdomyolysis and metabolic muscle disorders PHKB Sarah Leigh reviewed PHKB
Ocular coloboma TMEM237 Alice Gardham marked TMEM237 as ready
Ocular coloboma TMEM231 Alice Gardham marked TMEM231 as ready
Ocular coloboma TMEM231 Alice Gardham commented on TMEM231
Ocular coloboma TMEM216 Alice Gardham marked TMEM216 as ready
Ocular coloboma TMEM216 Alice Gardham commented on TMEM216
Ocular coloboma TMEM138 Alice Gardham marked TMEM138 as ready
Ocular coloboma TMEM138 Alice Gardham commented on TMEM138
Ocular coloboma TCTN3 Alice Gardham classified TCTN3 as amber
Ocular coloboma TCTN3 Alice Gardham commented on TCTN3
Ocular coloboma TCTN2 Alice Gardham marked TCTN2 as ready
Ocular coloboma TCTN1 Alice Gardham marked TCTN1 as ready
Ocular coloboma OFD1 Alice Gardham marked OFD1 as ready
Ocular coloboma KIF7 Alice Gardham marked KIF7 as ready
Ocular coloboma NPHP1 Alice Gardham marked NPHP1 as ready
Ocular coloboma INPP5E Alice Gardham marked INPP5E as ready
Ocular coloboma CEP41 Alice Gardham marked CEP41 as ready
Ocular coloboma CEP290 Alice Gardham marked CEP290 as ready
Ocular coloboma C5orf42 Alice Gardham marked C5orf42 as ready
Ocular coloboma ARL13B Alice Gardham marked ARL13B as ready
Ocular coloboma AHI1 Alice Gardham marked AHI1 as ready
Congenital disorders of glycosylation ALG12 Sarah Leigh commented on ALG12
Congenital disorders of glycosylation B3GALTL Sarah Leigh commented on B3GALTL
Ectodermal dysplasia without a known gene mutation PVRL1 Ellen McDonagh commented on PVRL1
Hereditary ataxia ATN1 Ellen McDonagh commented on ATN1
Paediatric motor neuronopathies AR Ellen McDonagh commented on AR
Hereditary ataxia ATXN2 Ellen McDonagh edited their review of ATXN2
Familial non syndromic congenital heart disease NR2F2 Alice Gardham classified NR2F2 as amber
Familial non syndromic congenital heart disease CITED2 Alice Gardham classified CITED2 as amber
Familial non syndromic congenital heart disease JAG1 Alice Gardham marked JAG1 as ready
Familial non syndromic congenital heart disease FLNA Alice Gardham classified FLNA as green
Familial non syndromic congenital heart disease FLNA Alice Gardham marked FLNA as ready
Familial non syndromic congenital heart disease FLNA Alice Gardham added FLNA to panel
Familial non syndromic congenital heart disease FLNA Alice Gardham reviewed FLNA
Familial non syndromic congenital heart disease NKX2-6 Alice Gardham marked NKX2-6 as ready
Familial non syndromic congenital heart disease NKX2-6 Alice Gardham added NKX2-6 to panel
Familial non syndromic congenital heart disease NKX2-6 Alice Gardham reviewed NKX2-6
Familial non syndromic congenital heart disease TLL1 Alice Gardham marked TLL1 as ready
Familial non syndromic congenital heart disease TLL1 Alice Gardham added TLL1 to panel
Familial non syndromic congenital heart disease TLL1 Alice Gardham reviewed TLL1
Familial non syndromic congenital heart disease PLXND1 Alice Gardham classified PLXND1 as red
Familial non syndromic congenital heart disease PLXND1 Alice Gardham marked PLXND1 as ready
Familial non syndromic congenital heart disease PLXND1 Alice Gardham added PLXND1 to panel
Familial non syndromic congenital heart disease PLXND1 Alice Gardham reviewed PLXND1
Familial non syndromic congenital heart disease TAB2 Alice Gardham marked TAB2 as ready
Familial non syndromic congenital heart disease TAB1 Alice Gardham added TAB1 to panel
Familial non syndromic congenital heart disease TAB1 Alice Gardham reviewed TAB1
Familial non syndromic congenital heart disease NR2F2 Alice Gardham added NR2F2 to panel
Familial non syndromic congenital heart disease NR2F2 Alice Gardham reviewed NR2F2
Familial non syndromic congenital heart disease SMAD6 Alice Gardham marked SMAD6 as ready
Familial non syndromic congenital heart disease SMAD6 Alice Gardham added SMAD6 to panel
Familial non syndromic congenital heart disease SMAD6 Alice Gardham reviewed SMAD6
Familial non syndromic congenital heart disease CITED2 Alice Gardham added CITED2 to panel
Familial non syndromic congenital heart disease CITED2 Alice Gardham reviewed CITED2
Familial non syndromic congenital heart disease IRX4 Alice Gardham marked IRX4 as ready
Familial non syndromic congenital heart disease IRX4 Alice Gardham added IRX4 to panel
Familial non syndromic congenital heart disease IRX4 Alice Gardham reviewed IRX4
Familial non syndromic congenital heart disease NOTCH1 Alice Gardham added NOTCH1 to panel
Familial non syndromic congenital heart disease NOTCH1 Alice Gardham reviewed NOTCH1
Rare multisystem ciliopathy disorders ATXN10 Ellen McDonagh classified ATXN10 as amber
Rare multisystem ciliopathy disorders ATXN10 Ellen McDonagh classified ATXN10 as amber
Skeletal dysplasia ATXN10 Ellen McDonagh commented on ATXN10
Thoracic dystrophies ATXN10 Ellen McDonagh commented on ATXN10
Primary ciliary disorders ATXN10 Ellen McDonagh commented on ATXN10
Rare multisystem ciliopathy disorders ATXN10 Ellen McDonagh classified ATXN10 as red
Rare multisystem ciliopathy disorders ATXN10 Ellen McDonagh commented on ATXN10
Familial non syndromic congenital heart disease FOXH1 Alice Gardham marked FOXH1 as ready
Familial non syndromic congenital heart disease FOXH1 Alice Gardham added FOXH1 to panel
Familial non syndromic congenital heart disease FOXH1 Alice Gardham reviewed FOXH1
Undiagnosed metabolic disorders MARS2 Ellen McDonagh commented on MARS2
Mitochondrial disorders MARS2 Ellen McDonagh edited their review of MARS2
Parkinson Disease and Complex Parkinsonism WDR45 Arianna Tucci reviewed WDR45
Parkinson Disease and Complex Parkinsonism TH Arianna Tucci reviewed TH
Parkinson Disease and Complex Parkinsonism SNCA Arianna Tucci reviewed SNCA
Parkinson Disease and Complex Parkinsonism SLC6A3 Arianna Tucci reviewed SLC6A3
Parkinson Disease and Complex Parkinsonism PLA2G6 Arianna Tucci reviewed PLA2G6
Parkinson Disease and Complex Parkinsonism PINK1 Arianna Tucci reviewed PINK1
Parkinson Disease and Complex Parkinsonism PARK7 Arianna Tucci reviewed PARK7
Parkinson Disease and Complex Parkinsonism PARK2 Arianna Tucci reviewed PARK2
Parkinson Disease and Complex Parkinsonism PANK2 Arianna Tucci reviewed PANK2
Parkinson Disease and Complex Parkinsonism MAPT Arianna Tucci reviewed MAPT
Parkinson Disease and Complex Parkinsonism MAPT Arianna Tucci reviewed MAPT
Parkinson Disease and Complex Parkinsonism GCH1 Arianna Tucci reviewed GCH1
Parkinson Disease and Complex Parkinsonism FTL Arianna Tucci reviewed FTL
Parkinson Disease and Complex Parkinsonism FBXO7 Arianna Tucci reviewed FBXO7
Parkinson Disease and Complex Parkinsonism DCTN1 Arianna Tucci reviewed DCTN1
Parkinson Disease and Complex Parkinsonism C19orf12 Arianna Tucci reviewed C19orf12
Parkinson Disease and Complex Parkinsonism ATP13A2 Arianna Tucci reviewed ATP13A2
Intracerebral calcification disorders IFIH1 Ellen McDonagh marked IFIH1 as ready
Intracerebral calcification disorders IFIH1 Ellen McDonagh classified IFIH1 as green
Intracerebral calcification disorders ERCC6 Ellen McDonagh classified ERCC6 as amber
Intracerebral calcification disorders ERCC6 Ellen McDonagh commented on ERCC6
Intracerebral calcification disorders CYP2U1 Ellen McDonagh classified CYP2U1 as amber
Intracerebral calcification disorders CYP2U1 Ellen McDonagh classified CYP2U1 as red
Intracerebral calcification disorders CYP2U1 Ellen McDonagh commented on CYP2U1
Intracerebral calcification disorders CTC1 Ellen McDonagh classified CTC1 as green
Intracerebral calcification disorders CTC1 Ellen McDonagh marked CTC1 as ready
Intracerebral calcification disorders CTC1 Ellen McDonagh classified CTC1 as red
Intracerebral calcification disorders CTC1 Ellen McDonagh commented on CTC1
Intracerebral calcification disorders COL4A1 Ellen McDonagh marked COL4A1 as ready
Intracerebral calcification disorders COL4A1 Ellen McDonagh classified COL4A1 as green
Intracerebral calcification disorders COL4A1 Ellen McDonagh classified COL4A1 as amber
Intracerebral calcification disorders COL4A1 Ellen McDonagh commented on COL4A1
Intracerebral calcification disorders AP1S2 Ellen McDonagh classified AP1S2 as amber
Intracerebral calcification disorders AP1S2 Ellen McDonagh commented on AP1S2
Intracerebral calcification disorders ADAR Ellen McDonagh marked ADAR as ready
Intracerebral calcification disorders ADAR Ellen McDonagh classified ADAR as green
Intracerebral calcification disorders ADAR Ellen McDonagh classified ADAR as red
Intracerebral calcification disorders ADAR Ellen McDonagh commented on ADAR
Intracerebral calcification disorders ACP5 Ellen McDonagh marked ACP5 as ready
Intracerebral calcification disorders ACP5 Ellen McDonagh classified ACP5 as green
Intracerebral calcification disorders ACP5 Ellen McDonagh commented on ACP5
Intracerebral calcification disorders TREX1 Ellen McDonagh marked TREX1 as ready
Intracerebral calcification disorders TREX1 Ellen McDonagh classified TREX1 as green
Intracerebral calcification disorders PDGFRB Ellen McDonagh marked PDGFRB as ready
Intracerebral calcification disorders PDGFRB Ellen McDonagh classified PDGFRB as green
Intracerebral calcification disorders PDGFB Ellen McDonagh marked PDGFB as ready
Intracerebral calcification disorders PDGFB Ellen McDonagh classified PDGFB as green
Intracerebral calcification disorders PDGFB Ellen McDonagh commented on PDGFB
Intracerebral calcification disorders PDGFRB Ellen McDonagh classified PDGFRB as amber
Sudden death in young people SLC6A4 Rebecca Foulger reviewed SLC6A4
Sudden death in young people MAOA Rebecca Foulger reviewed MAOA
Intracerebral calcification disorders SLC20A2 Ellen McDonagh classified SLC20A2 as amber
Intracerebral calcification disorders SLC20A2 Ellen McDonagh classified SLC20A2 as green
Intracerebral calcification disorders SLC20A2 Ellen McDonagh commented on SLC20A2
Sudden death in young people KCND3 Rebecca Foulger reviewed KCND3
Sudden death in young people KCND2 Rebecca Foulger reviewed KCND2
Sudden death in young people CACNA2D1 Rebecca Foulger commented on CACNA2D1
Sudden death in young people ACADM Rebecca Foulger commented on ACADM
Sudden death in young people PHOX2B Rebecca Foulger reviewed PHOX2B
Retinal disorders SLC38A8 Mervyn Thomas added SLC38A8 to panel
Retinal disorders SLC38A8 Mervyn Thomas reviewed SLC38A8
Retinal disorders GPR143 Mervyn Thomas reviewed GPR143
Infantile nystagmus FRMD7 Mervyn Thomas reviewed FRMD7
Infantile nystagmus CACNA1A Mervyn Thomas reviewed CACNA1A
Infantile nystagmus GPR143 Mervyn Thomas reviewed GPR143
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Ellen McDonagh promoted panel to version 1
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB1 Ellen McDonagh classified DDB1 as red
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB1 Ellen McDonagh commented on DDB1
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome RNF113A Ellen McDonagh marked RNF113A as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome RNF113A Ellen McDonagh classified RNF113A as red
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome MPLKIP Ellen McDonagh classified MPLKIP as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome MPLKIP Ellen McDonagh commented on MPLKIP
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2E2 Ellen McDonagh classified GTF2E2 as amber
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2E2 Ellen McDonagh classified GTF2E2 as red
Familial non syndromic congenital heart disease MYH6 Alice Gardham added MYH6 to panel
Familial non syndromic congenital heart disease MYH6 Alice Gardham reviewed MYH6
Familial non syndromic congenital heart disease ACTC1 Alice Gardham added ACTC1 to panel
Familial non syndromic congenital heart disease ACTC1 Alice Gardham reviewed ACTC1
Familial non syndromic congenital heart disease TBX20 Alice Gardham classified TBX20 as amber
Familial non syndromic congenital heart disease TBX20 Alice Gardham added TBX20 to panel
Familial non syndromic congenital heart disease TBX20 Alice Gardham reviewed TBX20
Familial non syndromic congenital heart disease CRELD1 Alice Gardham marked CRELD1 as ready
Familial non syndromic congenital heart disease CRELD1 Alice Gardham added CRELD1 to panel
Familial non syndromic congenital heart disease CRELD1 Alice Gardham reviewed CRELD1
Familial non syndromic congenital heart disease TBX5 Alice Gardham marked TBX5 as ready
Familial non syndromic congenital heart disease TBX5 Alice Gardham added TBX5 to panel
Familial non syndromic congenital heart disease TBX5 Alice Gardham reviewed TBX5
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome RNF113A Ellen McDonagh added RNF113A to panel
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome RNF113A Ellen McDonagh reviewed RNF113A
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2E2 Ellen McDonagh added GTF2E2 to panel
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2E2 Ellen McDonagh reviewed GTF2E2
Familial non syndromic congenital heart disease ELN Alice Gardham marked ELN as ready
Familial non syndromic congenital heart disease ELN Alice Gardham added ELN to panel
Familial non syndromic congenital heart disease ELN Alice Gardham reviewed ELN
Familial non syndromic congenital heart disease NKX2-5 Alice Gardham marked NKX2-5 as ready
Familial non syndromic congenital heart disease GATA4 Alice Gardham marked GATA4 as ready
Familial non syndromic congenital heart disease ZFPM2 Alice Gardham marked ZFPM2 as ready
Familial non syndromic congenital heart disease ZFPM2 Alice Gardham commented on ZFPM2
Familial non syndromic congenital heart disease TBX1 Alice Gardham marked TBX1 as ready
Familial non syndromic congenital heart disease TBX1 Alice Gardham commented on TBX1
Familial non syndromic congenital heart disease SEMA3D Alice Gardham marked SEMA3D as ready
Familial non syndromic congenital heart disease SEMA3D Alice Gardham reviewed SEMA3D
Familial non syndromic congenital heart disease NFATC1 Alice Gardham marked NFATC1 as ready
Familial non syndromic congenital heart disease NFATC1 Alice Gardham reviewed NFATC1
Familial non syndromic congenital heart disease MYOM2 Alice Gardham marked MYOM2 as ready
Familial non syndromic congenital heart disease MYOM2 Alice Gardham reviewed MYOM2
Familial non syndromic congenital heart disease MED13L Alice Gardham marked MED13L as ready
Familial non syndromic congenital heart disease MED13L Alice Gardham commented on MED13L
Familial non syndromic congenital heart disease JAG1 Alice Gardham marked JAG1 as ready
Familial non syndromic congenital heart disease JAG1 Alice Gardham classified JAG1 as green
Familial non syndromic congenital heart disease JAG1 Alice Gardham commented on JAG1
Familial non syndromic congenital heart disease HAND2 Alice Gardham marked HAND2 as ready
Familial non syndromic congenital heart disease HAND2 Alice Gardham reviewed HAND2
Familial non syndromic congenital heart disease GDF1 Alice Gardham marked GDF1 as ready
Familial non syndromic congenital heart disease GDF1 Alice Gardham classified GDF1 as green
Familial non syndromic congenital heart disease GDF1 Alice Gardham commented on GDF1
Familial non syndromic congenital heart disease GATA6 Alice Gardham marked GATA6 as ready
Familial non syndromic congenital heart disease GATA6 Alice Gardham classified GATA6 as green
Familial non syndromic congenital heart disease GATA6 Alice Gardham commented on GATA6
Intellectual disability ABCC9 Ellen McDonagh commented on ABCC9
Intellectual disability ABCC9 Alice Gardham marked ABCC9 as ready
Intellectual disability ABCC9 Alice Gardham classified ABCC9 as green
Intellectual disability ABCC9 Alice Gardham classified ABCC9 as green
Intellectual disability ABCC9 Alice Gardham commented on ABCC9
Familial non syndromic congenital heart disease GATA5 Alice Gardham classified GATA5 as amber
Familial non syndromic congenital heart disease GATA5 Alice Gardham reviewed GATA5
Familial non syndromic congenital heart disease FOXL1 Alice Gardham marked FOXL1 as ready
Familial non syndromic congenital heart disease FOXL1 Alice Gardham reviewed FOXL1
Familial non syndromic congenital heart disease DISP1 Alice Gardham marked DISP1 as ready
Familial non syndromic congenital heart disease CRKL Alice Gardham marked CRKL as ready
Familial non syndromic congenital heart disease CRKL Alice Gardham commented on CRKL
Familial non syndromic congenital heart disease CFC1 Alice Gardham marked CFC1 as ready
Familial non syndromic congenital heart disease CFC1 Alice Gardham commented on CFC1
Differences in sex development INPP5E Sarah Leigh marked INPP5E as ready
Differences in sex development INPP5E Sarah Leigh classified INPP5E as red
Differences in sex development CUL4B Sarah Leigh marked CUL4B as ready
Segmental overgrowth disorders - Deep sequencing Rebecca Foulger promoted panel to version 1
Differences in sex development CUL4B Sarah Leigh commented on CUL4B
Segmental overgrowth disorders - Deep sequencing RASA1 Rebecca Foulger edited their review of RASA1
Differences in sex development GLI2 Sarah Leigh marked GLI2 as ready
Differences in sex development GLI2 Sarah Leigh classified GLI2 as red
Familial non syndromic congenital heart disease Ellen McDonagh approved panel
Familial non syndromic congenital heart disease GJA1 Ellen McDonagh marked GJA1 as ready
Familial non syndromic congenital heart disease ALDH1A2 Ellen McDonagh marked ALDH1A2 as ready
Familial dysautonomia COQ2 Alice Gardham marked COQ2 as ready
Familial dysautonomia COQ2 Alice Gardham added COQ2 to panel
Familial dysautonomia COQ2 Alice Gardham reviewed COQ2
Familial dysautonomia PRNP Alice Gardham marked PRNP as ready
Familial dysautonomia PRNP Alice Gardham marked PRNP as ready
Familial dysautonomia TTR Alice Gardham marked TTR as ready
Familial dysautonomia TTR Alice Gardham classified TTR as amber
Familial dysautonomia PRNP Alice Gardham classified PRNP as amber
Familial dysautonomia PRNP Alice Gardham commented on PRNP
Rare multisystem ciliopathy disorders RSPH9 Ellen McDonagh classified RSPH9 as red
Rare multisystem ciliopathy disorders RSPH9 Ellen McDonagh commented on RSPH9
Rare multisystem ciliopathy disorders RSPH4A Ellen McDonagh classified RSPH4A as red
Rare multisystem ciliopathy disorders RSPH4A Ellen McDonagh commented on RSPH4A
Rare multisystem ciliopathy disorders NME8 Ellen McDonagh classified NME8 as red
Rare multisystem ciliopathy disorders NME8 Ellen McDonagh commented on NME8
Rare multisystem ciliopathy disorders DNAL1 Ellen McDonagh commented on DNAL1
Rare multisystem ciliopathy disorders DNAL1 Ellen McDonagh classified DNAL1 as red
Differences in sex development CHD7 Sarah Leigh marked CHD7 as ready
Rare multisystem ciliopathy disorders DNAI2 Ellen McDonagh classified DNAI2 as red
Rare multisystem ciliopathy disorders DNAI2 Ellen McDonagh commented on DNAI2
Rare multisystem ciliopathy disorders DNAI1 Ellen McDonagh commented on DNAI1
Rare multisystem ciliopathy disorders DNAI1 Ellen McDonagh classified DNAI1 as red
Rare multisystem ciliopathy disorders DNAH5 Ellen McDonagh classified DNAH5 as red
Rare multisystem ciliopathy disorders DNAH5 Ellen McDonagh commented on DNAH5
Rare multisystem ciliopathy disorders DNAH11 Ellen McDonagh classified DNAH11 as red
Rare multisystem ciliopathy disorders DNAH11 Ellen McDonagh commented on DNAH11
Rare multisystem ciliopathy disorders DNAAF3 Ellen McDonagh classified DNAAF3 as red
Rare multisystem ciliopathy disorders DNAAF3 Ellen McDonagh commented on DNAAF3
Differences in sex development CHD7 Sarah Leigh commented on CHD7
Rare multisystem ciliopathy disorders DNAAF2 Ellen McDonagh classified DNAAF2 as red
Rare multisystem ciliopathy disorders DNAAF2 Ellen McDonagh commented on DNAAF2
Rare multisystem ciliopathy disorders DNAAF1 Ellen McDonagh classified DNAAF1 as red
Rare multisystem ciliopathy disorders DNAAF1 Ellen McDonagh commented on DNAAF1
Rare multisystem ciliopathy disorders CCDC40 Ellen McDonagh classified CCDC40 as red
Rare multisystem ciliopathy disorders CCDC40 Ellen McDonagh commented on CCDC40
Rare multisystem ciliopathy disorders CCDC39 Ellen McDonagh classified CCDC39 as red
Rare multisystem ciliopathy disorders CCDC39 Ellen McDonagh commented on CCDC39
Hereditary spastic paraplegia KIF1A Ellen Thomas commented on KIF1A
Paediatric motor neuronopathies ALS2 Dragana Josifova reviewed ALS2
Paediatric motor neuronopathies UBA1 Dragana Josifova reviewed UBA1
Paediatric motor neuronopathies AR Dragana Josifova reviewed AR
Paediatric motor neuronopathies IGHMBP2 Dragana Josifova reviewed IGHMBP2
Paediatric motor neuronopathies SMN1 Dragana Josifova reviewed SMN1
Paediatric motor neuronopathies SLC52A2 Dragana Josifova reviewed SLC52A2
Paediatric motor neuronopathies SLC52A3 Dragana Josifova reviewed SLC52A3
Rare multisystem ciliopathy disorders KIAA0556 Ellen McDonagh added KIAA0556 to panel
Rare multisystem ciliopathy disorders KIAA0556 Ellen McDonagh reviewed KIAA0556
Rare multisystem ciliopathy disorders ATD Ellen McDonagh added ATD to panel
Rare multisystem ciliopathy disorders ATD Ellen McDonagh reviewed ATD
Rare multisystem ciliopathy disorders NPHP1 Ellen McDonagh classified NPHP1 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC1 Richard Scott classified ERCC1 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC1 Richard Scott reviewed ERCC1
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB1 Ellen McDonagh marked DDB1 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC1 Ellen McDonagh classified ERCC1 as amber
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC1 Ellen McDonagh commented on ERCC1
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPC Ellen McDonagh marked XPC as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPC Ellen McDonagh classified XPC as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPC Ellen McDonagh commented on XPC
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPA Ellen McDonagh marked XPA as ready
Rhabdomyolysis and metabolic muscle disorders CPT1B Sarah Leigh commented on CPT1B
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPA Ellen McDonagh classified XPA as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome XPA Ellen McDonagh commented on XPA
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh marked POLH as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh classified POLH as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh commented on POLH
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh classified POLH as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome POLH Ellen McDonagh commented on POLH
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC8 Ellen McDonagh marked ERCC8 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC6 Ellen McDonagh marked ERCC6 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC5 Ellen McDonagh marked ERCC5 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC4 Ellen McDonagh marked ERCC4 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC3 Ellen McDonagh marked ERCC3 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC3 Ellen McDonagh classified ERCC3 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC3 Ellen McDonagh commented on ERCC3
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC2 Ellen McDonagh marked ERCC2 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC2 Ellen McDonagh classified ERCC2 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome ERCC2 Ellen McDonagh commented on ERCC2
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB2 Ellen McDonagh marked DDB2 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham reviewed SLC52A3
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB2 Ellen McDonagh classified DDB2 as green
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome DDB2 Ellen McDonagh commented on DDB2
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham reviewed SLC52A2
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2H5 Ellen McDonagh marked GTF2H5 as ready
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2H5 Ellen McDonagh commented on GTF2H5
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome GTF2H5 Ellen McDonagh classified GTF2H5 as green
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham reviewed TBK1
Amyotrophic lateral sclerosis/motor neuron disease TARDBP Alice Gardham classified TARDBP as green
Amyotrophic lateral sclerosis/motor neuron disease TARDBP Alice Gardham reviewed TARDBP
Amyotrophic lateral sclerosis/motor neuron disease SETX Alice Gardham reviewed SETX
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham reviewed PFN1
Amyotrophic lateral sclerosis/motor neuron disease NEFH Alice Gardham reviewed NEFH
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham reviewed ERBB4
Pityriasis rubra pilaris CARD14 Ellen McDonagh added CARD14 to panel
Pityriasis rubra pilaris CARD14 Ellen McDonagh reviewed CARD14
Generalised pustular psoriasis Sarah Leigh promoted panel to version 1
Amyotrophic lateral sclerosis/motor neuron disease VCP Ellen McDonagh classified VCP as green
Familial dysautonomia SCN11A Sarah Leigh commented on SCN11A
Familial cicatricial alopecia HLA-DRA Rebecca Foulger commented on HLA-DRA
Familial cicatricial alopecia C5 Rebecca Foulger commented on C5
Familial cicatricial alopecia C2 Rebecca Foulger commented on C2
Familial cicatricial alopecia PLEC Rebecca Foulger commented on PLEC
Familial cicatricial alopecia ITGA6 Rebecca Foulger commented on ITGA6
Familial cicatricial alopecia ITGB4 Rebecca Foulger commented on ITGB4
Congenital disorders of glycosylation Ellen McDonagh approved panel
Generalised pustular psoriasis HLA-C Sarah Leigh marked HLA-C as ready
Generalised pustular psoriasis TRAF3IP2 Sarah Leigh marked TRAF3IP2 as ready
Generalised pustular psoriasis HLA-C Sarah Leigh added HLA-C to panel
Generalised pustular psoriasis HLA-C Sarah Leigh reviewed HLA-C
Generalised pustular psoriasis TRAF3IP2 Sarah Leigh added TRAF3IP2 to panel
Generalised pustular psoriasis TRAF3IP2 Sarah Leigh reviewed TRAF3IP2
Hyperammonaemia Sarah Leigh promoted panel to version 1
Malformations of cortical development Sarah Leigh promoted panel to version 1
Malformations of cortical development KATNB1 Sarah Leigh classified KATNB1 as green
Malformations of cortical development KATNB1 Sarah Leigh classified KATNB1 as green
Malformations of cortical development KATNB1 Sarah Leigh marked KATNB1 as ready
Malformations of cortical development KATNB1 Sarah Leigh commented on KATNB1
Fetal hydrops PMM2 Diana Wellesley reviewed PMM2
Fetal hydrops PIEZO1 Diana Wellesley reviewed PIEZO1
Fetal hydrops LBR Diana Wellesley reviewed LBR
Fetal hydrops LARS2 Diana Wellesley reviewed LARS2
Fetal hydrops HBZ Diana Wellesley reviewed HBZ
Malformations of cortical development RELN Sarah Leigh marked RELN as ready
Fetal hydrops HBA1 Diana Wellesley edited their review of HBA1
Malformations of cortical development RELN Sarah Leigh classified RELN as red
Fetal hydrops HBA2 Diana Wellesley reviewed HBA2
Malformations of cortical development RELN Sarah Leigh commented on RELN
Fetal hydrops HBA1 Diana Wellesley reviewed HBA1
Fetal hydrops GUSB Diana Wellesley reviewed GUSB
Fetal hydrops GLE1 Diana Wellesley reviewed GLE1
Fetal hydrops GBE1 Diana Wellesley reviewed GBE1
Fetal hydrops DMPK Diana Wellesley reviewed DMPK
Fetal hydrops NEU1 Diana Wellesley edited their review of NEU1
Fetal hydrops FOXP3 Diana Wellesley commented on FOXP3
Fetal hydrops FOXC2 Diana Wellesley edited their review of FOXC2
Fetal hydrops CCBE1 Diana Wellesley commented on CCBE1
Fetal hydrops FLT4 Diana Wellesley edited their review of FLT4
Fetal hydrops CCBE1 Diana Wellesley edited their review of CCBE1
Fetal hydrops CCBE1 Diana Wellesley edited their review of CCBE1
Fetal hydrops CBL Diana Wellesley reviewed CBL
Hyperammonaemia ALDH18A1 Sarah Leigh classified ALDH18A1 as green
Hyperammonaemia POLG Sarah Leigh marked POLG as ready
Hyperammonaemia POLG Sarah Leigh classified POLG as green
Hyperammonaemia OAT Sarah Leigh classified OAT as green
Hyperammonaemia IVD Sarah Leigh classified IVD as green
Hyperammonaemia ETFDH Sarah Leigh marked ETFDH as ready
Hyperammonaemia ETFDH Sarah Leigh classified ETFDH as green
Hyperammonaemia ETFB Sarah Leigh marked ETFB as ready
Hyperammonaemia ETFB Sarah Leigh classified ETFB as green
Hyperammonaemia ETFA Sarah Leigh marked ETFA as ready
Hyperammonaemia ETFA Sarah Leigh classified ETFA as green
Hyperammonaemia DBT Sarah Leigh marked DBT as ready
Hyperammonaemia DBT Sarah Leigh classified DBT as green
Hyperammonaemia BCKDHB Sarah Leigh marked BCKDHB as ready
Hyperammonaemia BCKDHB Sarah Leigh classified BCKDHB as green
Hyperammonaemia BCKDHA Sarah Leigh classified BCKDHA as green
Hyperammonaemia AUH Sarah Leigh classified AUH as green
Hyperammonaemia ACADVL Sarah Leigh marked ACADVL as ready
Hyperammonaemia ACADVL Sarah Leigh classified ACADVL as green
Hyperammonaemia ACADVL Sarah Leigh classified ACADVL as green
Familial dysautonomia TTR Alice Gardham added TTR to panel
Familial dysautonomia TTR Alice Gardham reviewed TTR
Familial dysautonomia GMPPA Alice Gardham marked GMPPA as ready
Familial dysautonomia GMPPA Alice Gardham classified GMPPA as green
Familial dysautonomia GMPPA Alice Gardham added GMPPA to panel
Familial dysautonomia GMPPA Alice Gardham reviewed GMPPA
Familial dysautonomia AAAS Alice Gardham marked AAAS as ready
Familial dysautonomia AAAS Alice Gardham added AAAS to panel
Familial dysautonomia AAAS Alice Gardham reviewed AAAS
Familial dysautonomia ATL1 Alice Gardham marked ATL1 as ready
Familial dysautonomia ATL1 Alice Gardham classified ATL1 as red
Familial dysautonomia ATL1 Alice Gardham commented on ATL1
Familial dysautonomia TECPR2 Alice Gardham marked TECPR2 as ready
Familial dysautonomia TECPR2 Alice Gardham commented on TECPR2
Familial dysautonomia PRDM12 Alice Gardham classified PRDM12 as green
Familial dysautonomia PRDM12 Alice Gardham marked PRDM12 as ready
Familial dysautonomia PRDM12 Alice Gardham commented on PRDM12
Familial dysautonomia ATL3 Alice Gardham marked ATL3 as ready
Familial dysautonomia ATL3 Alice Gardham commented on ATL3
Familial dysautonomia SPTLC2 Alice Gardham marked SPTLC2 as ready
Familial dysautonomia DNMT1 Alice Gardham marked DNMT1 as ready
Familial dysautonomia DNMT1 Alice Gardham classified DNMT1 as red
Familial dysautonomia DNMT1 Alice Gardham commented on DNMT1
Familial dysautonomia SCN9A Alice Gardham marked SCN9A as ready
Familial dysautonomia SCN9A Alice Gardham added SCN9A to panel
Familial dysautonomia SCN9A Alice Gardham reviewed SCN9A
Familial dysautonomia FAM134B Alice Gardham marked FAM134B as ready
Familial dysautonomia FAM134B Alice Gardham commented on FAM134B
Familial dysautonomia WNK1 Alice Gardham marked WNK1 as ready
Familial dysautonomia WNK1 Alice Gardham commented on WNK1
Familial dysautonomia KIF1A Alice Gardham marked KIF1A as ready
Familial dysautonomia KIF1A Alice Gardham commented on KIF1A
Familial dysautonomia SCN11A Alice Gardham marked SCN11A as ready
Familial dysautonomia SCN11A Alice Gardham commented on SCN11A
Familial dysautonomia SCN11A Alice Gardham classified SCN11A as green
Familial dysautonomia DST Alice Gardham marked DST as ready
Familial dysautonomia NGF Alice Gardham marked NGF as ready
Familial dysautonomia NTRK1 Alice Gardham marked NTRK1 as ready
Familial dysautonomia SPTLC1 Alice Gardham marked SPTLC1 as ready
Familial dysautonomia IKBKAP Alice Gardham marked IKBKAP as ready
Ocular coloboma RPGRIP1L Alice Gardham marked RPGRIP1L as ready
Ocular coloboma RPGRIP1L Alice Gardham added RPGRIP1L to panel
Ocular coloboma RPGRIP1L Alice Gardham reviewed RPGRIP1L
Ocular coloboma TMEM67 Alice Gardham marked TMEM67 as ready
Ocular coloboma TMEM67 Alice Gardham added TMEM67 to panel
Ocular coloboma TMEM67 Alice Gardham reviewed TMEM67
Ocular coloboma CC2D2A Alice Gardham marked CC2D2A as ready
Ocular coloboma CC2D2A Alice Gardham added CC2D2A to panel
Ocular coloboma CC2D2A Alice Gardham reviewed CC2D2A
Ocular coloboma SMO Alice Gardham marked SMO as ready
Ocular coloboma SMO Alice Gardham added SMO to panel
Ocular coloboma SMO Alice Gardham reviewed SMO
Ocular coloboma HMX1 Alice Gardham added HMX1 to panel
Ocular coloboma HMX1 Alice Gardham reviewed HMX1
Ocular coloboma MAF Alice Gardham added MAF to panel
Ocular coloboma MAF Alice Gardham reviewed MAF
Ocular coloboma NAA10 Alice Gardham added NAA10 to panel
Ocular coloboma NAA10 Alice Gardham reviewed NAA10
Ocular coloboma HMGB3 Alice Gardham added HMGB3 to panel
Ocular coloboma HMGB3 Alice Gardham reviewed HMGB3
Ocular coloboma LRP2 Alice Gardham added LRP2 to panel
Ocular coloboma LRP2 Alice Gardham reviewed LRP2
Ocular coloboma CLDN19 Alice Gardham added CLDN19 to panel
Ocular coloboma CLDN19 Alice Gardham reviewed CLDN19
Segmental overgrowth disorders - Deep sequencing TBC1D7 Rebecca Foulger classified TBC1D7 as red
Ocular coloboma SALL4 Alice Gardham added SALL4 to panel
Ocular coloboma SALL4 Alice Gardham reviewed SALL4
Ocular coloboma TFAP2A Alice Gardham added TFAP2A to panel
Ocular coloboma TFAP2A Alice Gardham reviewed TFAP2A
Ocular coloboma SIX6 Alice Gardham added SIX6 to panel
Ocular coloboma SIX6 Alice Gardham reviewed SIX6
Ocular coloboma B3GALT1 Alice Gardham added B3GALT1 to panel
Ocular coloboma B3GALT1 Alice Gardham reviewed B3GALT1
Ocular coloboma MIR204 Alice Gardham added MIR204 to panel
Ocular coloboma MIR204 Alice Gardham reviewed MIR204
Ocular coloboma RBP4 Alice Gardham added RBP4 to panel
Ocular coloboma RBP4 Alice Gardham reviewed RBP4
Ocular coloboma PIGL Alice Gardham reviewed PIGL
Ocular coloboma IGBP1 Alice Gardham reviewed IGBP1
Ocular coloboma MAB21L2 Alice Gardham added MAB21L2 to panel
Ocular coloboma MAB21L2 Alice Gardham reviewed MAB21L2
Ocular coloboma YAP1 Alice Gardham reviewed YAP1
Ocular coloboma SALL2 Alice Gardham added SALL2 to panel
Ocular coloboma SALL2 Alice Gardham reviewed SALL2
Ocular coloboma TENM3 Alice Gardham added TENM3 to panel
Ocular coloboma TENM3 Alice Gardham reviewed TENM3
Ocular coloboma C12orf57 Alice Gardham classified C12orf57 as green
Ocular coloboma C12orf57 Alice Gardham added C12orf57 to panel
Ocular coloboma C12orf57 Alice Gardham reviewed C12orf57
Ocular coloboma ABCB6 Alice Gardham reviewed ABCB6
Ocular coloboma GDF6 Alice Gardham commented on GDF6
Ocular coloboma GDF6 Alice Gardham reviewed GDF6
Ocular coloboma GDF3 Alice Gardham reviewed GDF3
Ocular coloboma BMP7 Alice Gardham added BMP7 to panel
Ocular coloboma BMP7 Alice Gardham reviewed BMP7
Ocular coloboma BMP4 Alice Gardham marked BMP4 as ready
Ocular coloboma BMP4 Alice Gardham added BMP4 to panel
Ocular coloboma BMP4 Alice Gardham reviewed BMP4
Ocular coloboma FOXE3 Alice Gardham classified FOXE3 as green
Ocular coloboma FOXE3 Alice Gardham marked FOXE3 as ready
Ocular coloboma FOXE3 Alice Gardham added FOXE3 to panel
Ocular coloboma FOXE3 Alice Gardham reviewed FOXE3
Ocular coloboma VSX2 Alice Gardham marked VSX2 as ready
Ocular coloboma VSX2 Alice Gardham reviewed VSX2
Ocular coloboma PORCN Alice Gardham marked PORCN as ready
Ocular coloboma PORCN Alice Gardham classified PORCN as green
Ocular coloboma PORCN Alice Gardham added PORCN to panel
Ocular coloboma PORCN Alice Gardham reviewed PORCN
Ocular coloboma HCCS Alice Gardham marked HCCS as ready
Ocular coloboma HCCS Alice Gardham classified HCCS as green
Ocular coloboma HCCS Alice Gardham added HCCS to panel
Ocular coloboma HCCS Alice Gardham reviewed HCCS
Ocular coloboma ACTB Alice Gardham marked ACTB as ready
Ocular coloboma ACTB Alice Gardham classified ACTB as green
Ocular coloboma ACTB Alice Gardham added ACTB to panel
Ocular coloboma ACTB Alice Gardham reviewed ACTB
Ocular coloboma ACTG1 Alice Gardham marked ACTG1 as ready
Ocular coloboma ACTG1 Alice Gardham classified ACTG1 as green
Ocular coloboma ACTG1 Alice Gardham added ACTG1 to panel
Ocular coloboma ACTG1 Alice Gardham reviewed ACTG1
Ocular coloboma CHD7 Alice Gardham marked CHD7 as ready
Ocular coloboma CHD7 Alice Gardham classified CHD7 as green
Ocular coloboma PAX2 Alice Gardham marked PAX2 as ready
Ocular coloboma PAX2 Alice Gardham classified PAX2 as green
Ocular coloboma PAX2 Alice Gardham added PAX2 to panel
Ocular coloboma PAX2 Alice Gardham reviewed PAX2
Ocular coloboma SIX3 Alice Gardham added SIX3 to panel
Ocular coloboma SIX3 Alice Gardham reviewed SIX3
Ocular coloboma SHH Alice Gardham reviewed SHH
Ocular coloboma RARB Alice Gardham added RARB to panel
Ocular coloboma RARB Alice Gardham reviewed RARB
Ocular coloboma ALDH1A3 Alice Gardham marked ALDH1A3 as ready
Ocular coloboma ALDH1A3 Alice Gardham classified ALDH1A3 as green
Ocular coloboma ALDH1A3 Alice Gardham added ALDH1A3 to panel
Ocular coloboma ALDH1A3 Alice Gardham reviewed ALDH1A3
Ocular coloboma STRA6 Alice Gardham marked STRA6 as ready
Ocular coloboma STRA6 Alice Gardham reviewed STRA6
Ocular coloboma OTX2-AS1 Alice Gardham marked OTX2-AS1 as ready
Ocular coloboma OTX2-AS1 Alice Gardham classified OTX2-AS1 as green
Ocular coloboma OTX2-AS1 Alice Gardham added OTX2-AS1 to panel
Ocular coloboma OTX2-AS1 Alice Gardham reviewed OTX2-AS1
Ocular coloboma SOX2 Alice Gardham marked SOX2 as ready
Ocular coloboma SOX2 Alice Gardham added SOX2 to panel
Ocular coloboma SOX2 Alice Gardham reviewed SOX2
Ocular coloboma PAX6 Alice Gardham marked PAX6 as ready
Ocular coloboma PAX6 Alice Gardham classified PAX6 as green
Ocular coloboma PAX6 Alice Gardham reviewed PAX6
Cerebellar hypoplasia CLP1 Alice Gardham marked CLP1 as ready
Cerebellar hypoplasia PMPCA Alice Gardham marked PMPCA as ready
Cerebellar hypoplasia PMPCA Alice Gardham added PMPCA to panel
Cerebellar hypoplasia PMPCA Alice Gardham reviewed PMPCA
Cerebellar hypoplasia STUB1 Alice Gardham added STUB1 to panel
Cerebellar hypoplasia STUB1 Alice Gardham reviewed STUB1
Cerebellar hypoplasia ATP8A2 Alice Gardham classified ATP8A2 as amber
Cerebellar hypoplasia ATP8A2 Alice Gardham added ATP8A2 to panel
Cerebellar hypoplasia ATP8A2 Alice Gardham reviewed ATP8A2
Cerebellar hypoplasia CA8 Alice Gardham classified CA8 as amber
Cerebellar hypoplasia CA8 Alice Gardham added CA8 to panel
Cerebellar hypoplasia CA8 Alice Gardham reviewed CA8
Cerebellar hypoplasia WDR81 Alice Gardham marked WDR81 as ready
Cerebellar hypoplasia WDR81 Alice Gardham classified WDR81 as green
Cerebellar hypoplasia WDR81 Alice Gardham added WDR81 to panel
Cerebellar hypoplasia WDR81 Alice Gardham reviewed WDR81
Cerebellar hypoplasia GMPPB Alice Gardham marked GMPPB as ready
Cerebellar hypoplasia GMPPB Alice Gardham classified GMPPB as green
Cerebellar hypoplasia GMPPB Alice Gardham reviewed GMPPB
Cerebellar hypoplasia ISPD Alice Gardham marked ISPD as ready
Cerebellar hypoplasia ISPD Alice Gardham reviewed ISPD
Cerebellar hypoplasia B3GALNT2 Alice Gardham marked B3GALNT2 as ready
Cerebellar hypoplasia B3GALNT2 Alice Gardham classified B3GALNT2 as green
Cerebellar hypoplasia B3GALNT2 Alice Gardham reviewed B3GALNT2
Cerebellar hypoplasia POMGNT2 Alice Gardham marked POMGNT2 as ready
Cerebellar hypoplasia POMGNT2 Alice Gardham classified POMGNT2 as green
Cerebellar hypoplasia POMGNT2 Alice Gardham reviewed POMGNT2
Cerebellar hypoplasia POMGNT1 Alice Gardham marked POMGNT1 as ready
Cerebellar hypoplasia POMGNT1 Alice Gardham reviewed POMGNT1
Cerebellar hypoplasia LARGE Alice Gardham marked LARGE as ready
Cerebellar hypoplasia LARGE Alice Gardham reviewed LARGE
Cerebellar hypoplasia DAG1 Alice Gardham marked DAG1 as ready
Cerebellar hypoplasia DAG1 Alice Gardham classified DAG1 as amber
Cerebellar hypoplasia DAG1 Alice Gardham reviewed DAG1
Cerebellar hypoplasia POMT2 Alice Gardham marked POMT2 as ready
Cerebellar hypoplasia POMT2 Alice Gardham reviewed POMT2
Cerebellar hypoplasia TMEM5 Alice Gardham classified TMEM5 as green
Cerebellar hypoplasia TMEM5 Alice Gardham marked TMEM5 as ready
Cerebellar hypoplasia TMEM5 Alice Gardham reviewed TMEM5
Cerebellar hypoplasia FKTN Alice Gardham marked FKTN as ready
Cerebellar hypoplasia FKTN Alice Gardham reviewed FKTN
Cerebellar hypoplasia FKRP Alice Gardham marked FKRP as ready
Cerebellar hypoplasia FKRP Alice Gardham reviewed FKRP
Segmental overgrowth disorders - Deep sequencing RASA1 Rebecca Foulger marked RASA1 as ready
Segmental overgrowth disorders - Deep sequencing PTEN Rebecca Foulger marked PTEN as ready
Segmental overgrowth disorders - Deep sequencing PTEN Rebecca Foulger commented on PTEN
Segmental overgrowth disorders - Deep sequencing PIK3R2 Rebecca Foulger marked PIK3R2 as ready
Segmental overgrowth disorders - Deep sequencing PIK3R2 Rebecca Foulger commented on PIK3R2
Segmental overgrowth disorders - Deep sequencing PIK3CA Rebecca Foulger marked PIK3CA as ready
Segmental overgrowth disorders - Deep sequencing PIK3CA Rebecca Foulger edited their review of PIK3CA
Segmental overgrowth disorders - Deep sequencing CDKN1C Rebecca Foulger marked CDKN1C as ready
Segmental overgrowth disorders - Deep sequencing CDKN1C Rebecca Foulger commented on CDKN1C
Segmental overgrowth disorders - Deep sequencing CCND2 Rebecca Foulger marked CCND2 as ready
Segmental overgrowth disorders - Deep sequencing AKT1 Rebecca Foulger marked AKT1 as ready
Segmental overgrowth disorders - Deep sequencing AKT3 Rebecca Foulger marked AKT3 as ready
Segmental overgrowth disorders - Deep sequencing PTEN Richard Scott reviewed PTEN
Segmental overgrowth disorders - Deep sequencing PIK3R2 Richard Scott reviewed PIK3R2
Segmental overgrowth disorders - Deep sequencing CDKN1C Richard Scott reviewed CDKN1C
Segmental overgrowth disorders - Deep sequencing AKT1 Richard Scott reviewed AKT1
Segmental overgrowth disorders - Deep sequencing TBC1D7 Richard Scott reviewed TBC1D7
Segmental overgrowth disorders - Deep sequencing RASA1 Richard Scott reviewed RASA1
Segmental overgrowth disorders - Deep sequencing PIK3CA Richard Scott reviewed PIK3CA
Segmental overgrowth disorders - Deep sequencing CCND2 Richard Scott reviewed CCND2
Segmental overgrowth disorders - Deep sequencing AKT3 Richard Scott reviewed AKT3
Parkinson Disease and Complex Parkinsonism HTRA2 Ellen McDonagh classified HTRA2 as red
Fetal hydrops FOXC2 Diana Wellesley added FOXC2 to panel
Fetal hydrops FOXC2 Diana Wellesley reviewed FOXC2
Fetal hydrops FLT4 Diana Wellesley added FLT4 to panel
Fetal hydrops FLT4 Diana Wellesley reviewed FLT4
Fetal hydrops CCBE1 Diana Wellesley added CCBE1 to panel
Fetal hydrops CCBE1 Diana Wellesley reviewed CCBE1
Fetal hydrops NEU1 Diana Wellesley added NEU1 to panel
Fetal hydrops NEU1 Diana Wellesley reviewed NEU1
Fetal hydrops FOXP3 Diana Wellesley added FOXP3 to panel
Fetal hydrops FOXP3 Diana Wellesley reviewed FOXP3
Cerebellar hypoplasia SNX14 Alice Gardham marked SNX14 as ready
Cerebellar hypoplasia SNX14 Alice Gardham classified SNX14 as green
Cerebellar hypoplasia SNX14 Alice Gardham added SNX14 to panel
Cerebellar hypoplasia SNX14 Alice Gardham reviewed SNX14
Cerebellar hypoplasia PHGDH Alice Gardham added PHGDH to panel
Cerebellar hypoplasia PHGDH Alice Gardham reviewed PHGDH
Cerebellar hypoplasia POMK Alice Gardham added POMK to panel
Cerebellar hypoplasia POMK Alice Gardham reviewed POMK
Cerebellar hypoplasia POMT1 Alice Gardham marked POMT1 as ready
Cerebellar hypoplasia POMT1 Alice Gardham added POMT1 to panel
Cerebellar hypoplasia POMT1 Alice Gardham reviewed POMT1
Cerebellar hypoplasia B4GAT1 Alice Gardham added B4GAT1 to panel
Cerebellar hypoplasia B4GAT1 Alice Gardham reviewed B4GAT1
Cerebellar hypoplasia FRMD4A Alice Gardham added FRMD4A to panel
Cerebellar hypoplasia FRMD4A Alice Gardham reviewed FRMD4A
Cerebellar hypoplasia ADGRG1 Alice Gardham marked ADGRG1 as ready
Cerebellar hypoplasia ADGRG1 Alice Gardham added ADGRG1 to panel
Cerebellar hypoplasia ADGRG1 Alice Gardham reviewed ADGRG1
Cerebellar hypoplasia PI4KA Alice Gardham added PI4KA to panel
Cerebellar hypoplasia PI4KA Alice Gardham reviewed PI4KA
Cerebellar hypoplasia CDK5 Alice Gardham added CDK5 to panel
Cerebellar hypoplasia CDK5 Alice Gardham reviewed CDK5
Cerebellar hypoplasia TERT Alice Gardham added TERT to panel
Cerebellar hypoplasia TERT Alice Gardham reviewed TERT
Paediatric motor neuronopathies DMPK Alice Gardham marked DMPK as ready
Paediatric motor neuronopathies DMPK Alice Gardham classified DMPK as red
Paediatric motor neuronopathies DMPK Alice Gardham commented on DMPK
Cerebellar hypoplasia TINF2 Alice Gardham marked TINF2 as ready
Cerebellar hypoplasia TINF2 Alice Gardham added TINF2 to panel
Cerebellar hypoplasia TINF2 Alice Gardham reviewed TINF2
Cerebellar hypoplasia CWF19L1 Alice Gardham classified CWF19L1 as green
Cerebellar hypoplasia CWF19L1 Alice Gardham classified CWF19L1 as amber
Cerebellar hypoplasia CWF19L1 Alice Gardham classified CWF19L1 as green
Cerebellar hypoplasia CWF19L1 Alice Gardham added CWF19L1 to panel
Cerebellar hypoplasia CWF19L1 Alice Gardham reviewed CWF19L1
Cerebellar hypoplasia PTF1A Alice Gardham marked PTF1A as ready
Cerebellar hypoplasia PTF1A Alice Gardham added PTF1A to panel
Cerebellar hypoplasia PTF1A Alice Gardham reviewed PTF1A
Cerebellar hypoplasia BRF1 Alice Gardham added BRF1 to panel
Cerebellar hypoplasia BRF1 Alice Gardham reviewed BRF1
Cerebellar hypoplasia TUBB3 Alice Gardham marked TUBB3 as ready
Cerebellar hypoplasia TUBB3 Alice Gardham added TUBB3 to panel
Cerebellar hypoplasia TUBB3 Alice Gardham reviewed TUBB3
Retinal disorders ABCA4 Ellen Thomas commented on ABCA4
Cerebellar hypoplasia TUBB2B Alice Gardham marked TUBB2B as ready
Cerebellar hypoplasia TUBB2B Alice Gardham added TUBB2B to panel
Cerebellar hypoplasia TUBB2B Alice Gardham reviewed TUBB2B
Cerebellar hypoplasia TUBB Alice Gardham added TUBB to panel
Cerebellar hypoplasia TUBB Alice Gardham reviewed TUBB
Cerebellar hypoplasia TUBA8 Alice Gardham marked TUBA8 as ready
Cerebellar hypoplasia TUBA8 Alice Gardham classified TUBA8 as green
Cerebellar hypoplasia TUBA8 Alice Gardham added TUBA8 to panel
Cerebellar hypoplasia TUBA8 Alice Gardham reviewed TUBA8
Cerebellar hypoplasia TUBA1A Alice Gardham marked TUBA1A as ready
Cerebellar hypoplasia TUBA1A Alice Gardham added TUBA1A to panel
Cerebellar hypoplasia TUBA1A Alice Gardham reviewed TUBA1A
Cerebellar hypoplasia DKC1 Alice Gardham marked DKC1 as ready
Cerebellar hypoplasia DKC1 Alice Gardham added DKC1 to panel
Cerebellar hypoplasia DKC1 Alice Gardham reviewed DKC1
Cerebellar hypoplasia TSEN34 Alice Gardham classified TSEN34 as green
Cerebellar hypoplasia TSEN34 Alice Gardham marked TSEN34 as ready
Cerebellar hypoplasia RELN Alice Gardham marked RELN as ready
Cerebellar hypoplasia RELN Alice Gardham added RELN to panel
Cerebellar hypoplasia RELN Alice Gardham reviewed RELN
Cerebellar hypoplasia CHMP1A Alice Gardham marked CHMP1A as ready
Cerebellar hypoplasia CHMP1A Alice Gardham classified CHMP1A as green
Paediatric motor neuronopathies DMPK Alice Gardham classified DMPK as green
Neurofibromatosis Type 1 Alice Gardham promoted panel to version 1
Neurofibromatosis Type 1 MAP2K1 Alice Gardham marked MAP2K1 as ready
Neurofibromatosis Type 1 MAP2K1 Alice Gardham added MAP2K1 to panel
Neurofibromatosis Type 1 MAP2K1 Alice Gardham reviewed MAP2K1
Neurofibromatosis Type 1 BRAF Alice Gardham marked BRAF as ready
Neurofibromatosis Type 1 BRAF Alice Gardham commented on BRAF
Neurofibromatosis Type 1 BRAF Alice Gardham added BRAF to panel
Neurofibromatosis Type 1 BRAF Alice Gardham reviewed BRAF
Neurofibromatosis Type 1 RAF1 Alice Gardham classified RAF1 as green
Neurofibromatosis Type 1 RAF1 Alice Gardham marked RAF1 as ready
Neurofibromatosis Type 1 RAF1 Alice Gardham classified RAF1 as amber
Neurofibromatosis Type 1 RAF1 Alice Gardham added RAF1 to panel
Neurofibromatosis Type 1 RAF1 Alice Gardham reviewed RAF1
Neurofibromatosis Type 1 PTPN11 Alice Gardham marked PTPN11 as ready
Neurofibromatosis Type 1 PTPN11 Alice Gardham classified PTPN11 as green
Neurofibromatosis Type 1 PTPN11 Alice Gardham added PTPN11 to panel
Neurofibromatosis Type 1 PTPN11 Alice Gardham reviewed PTPN11
Hereditary haemorrhagic telangiectasia GDF2 Claire Shovlin reviewed GDF2
Hereditary haemorrhagic telangiectasia SOX18 Claire Shovlin reviewed SOX18
Hereditary haemorrhagic telangiectasia RASA1 Claire Shovlin reviewed RASA1
Hereditary haemorrhagic telangiectasia MRE11A Claire Shovlin reviewed MRE11A
Hereditary haemorrhagic telangiectasia ATR Claire Shovlin reviewed ATR
Hereditary haemorrhagic telangiectasia ATM Claire Shovlin reviewed ATM
Hereditary haemorrhagic telangiectasia SMAD4 Claire Shovlin reviewed SMAD4
Hereditary haemorrhagic telangiectasia ENG Claire Shovlin edited their review of ENG
Hereditary haemorrhagic telangiectasia ENG Claire Shovlin reviewed ENG
Hereditary haemorrhagic telangiectasia ACVRL1 Claire Shovlin reviewed ACVRL1
Rare syndromic craniosynostosis or isolated multisuture synostosis TCF12 Andrew Wilkie edited their review of TCF12
Rare syndromic craniosynostosis or isolated multisuture synostosis SMO Andrew Wilkie added SMO to panel
Rare syndromic craniosynostosis or isolated multisuture synostosis SMO Andrew Wilkie reviewed SMO
Rare syndromic craniosynostosis or isolated multisuture synostosis SMAD6 Andrew Wilkie added SMAD6 to panel
Rare syndromic craniosynostosis or isolated multisuture synostosis SMAD6 Andrew Wilkie reviewed SMAD6
Rare syndromic craniosynostosis or isolated multisuture synostosis HUWE1 Andrew Wilkie edited their review of HUWE1
Parkinson Disease and Complex Parkinsonism HTRA2 Rebecca Foulger commented on HTRA2
Parkinson Disease and Complex Parkinsonism SYNJ1 Rebecca Foulger commented on SYNJ1
Parkinson Disease and Complex Parkinsonism EIF4G1 Rebecca Foulger commented on EIF4G1
Parkinson Disease and Complex Parkinsonism RAB39B Rebecca Foulger commented on RAB39B
Parkinson Disease and Complex Parkinsonism DNAJC6 Rebecca Foulger commented on DNAJC6
Parkinson Disease and Complex Parkinsonism LRRK2 Rebecca Foulger commented on LRRK2
Parkinson Disease and Complex Parkinsonism VPS35 Rebecca Foulger commented on VPS35
Familial disseminated superficial actinic porokeratosis SSH1 Rebecca Foulger commented on SSH1
Intellectual disability EIF2S3 Richard Scott classified EIF2S3 as green
Intellectual disability EIF2S3 Richard Scott classified EIF2S3 as green
Intellectual disability EIF2S3 Richard Scott reviewed EIF2S3
VACTERL-like phenotypes PUF60 Richard Scott edited their review of PUF60
VACTERL-like phenotypes PUF60 Richard Scott classified PUF60 as green
Sudden death in young people PPA2 Richard Scott added PPA2 to panel
Sudden death in young people PPA2 Richard Scott reviewed PPA2
Mitochondrial disorders PPA2 Richard Scott classified PPA2 as green
Mitochondrial disorders PPA2 Richard Scott added PPA2 to panel
Mitochondrial disorders PPA2 Richard Scott reviewed PPA2
Ocular coloboma PUF60 Richard Scott added PUF60 to panel
Ocular coloboma PUF60 Richard Scott reviewed PUF60
VACTERL-like phenotypes PUF60 Richard Scott added PUF60 to panel
VACTERL-like phenotypes PUF60 Richard Scott reviewed PUF60
Radial dysplasia PUF60 Richard Scott added PUF60 to panel
Radial dysplasia PUF60 Richard Scott reviewed PUF60
Severe microcephaly LARP7 Richard Scott added LARP7 to panel
Severe microcephaly LARP7 Richard Scott reviewed LARP7
Segmental overgrowth disorders - Deep sequencing MTOR Rebecca Foulger reviewed MTOR
Segmental overgrowth disorders - Deep sequencing CCND2 Rebecca Foulger classified CCND2 as green
Segmental overgrowth disorders - Deep sequencing CCND2 Rebecca Foulger commented on CCND2
Segmental overgrowth disorders - Deep sequencing PIK3CA Rebecca Foulger classified PIK3CA as green
Segmental overgrowth disorders - Deep sequencing RASA1 Rebecca Foulger classified RASA1 as green
Segmental overgrowth disorders - Deep sequencing RASA1 Rebecca Foulger commented on RASA1
Segmental overgrowth disorders - Deep sequencing TBC1D7 Rebecca Foulger classified TBC1D7 as green
Segmental overgrowth disorders - Deep sequencing TBC1D7 Rebecca Foulger commented on TBC1D7
Segmental overgrowth disorders - Deep sequencing AKT3 Rebecca Foulger classified AKT3 as green
Segmental overgrowth disorders - Deep sequencing AKT3 Rebecca Foulger commented on AKT3
Segmental overgrowth disorders - Deep sequencing PIK3CA Rebecca Foulger reviewed PIK3CA
Segmental overgrowth disorders - Deep sequencing AKT1 Rebecca Foulger reviewed AKT1
Radial dysplasia HOXA13 Richard Scott marked HOXA13 as ready
Radial dysplasia HOXA13 Richard Scott classified HOXA13 as green
Radial dysplasia HOXA13 Richard Scott added HOXA13 to panel
Radial dysplasia HOXA13 Richard Scott reviewed HOXA13
VACTERL-like phenotypes HOXA13 Richard Scott marked HOXA13 as ready
VACTERL-like phenotypes HOXA13 Richard Scott classified HOXA13 as green
VACTERL-like phenotypes HOXA13 Richard Scott added HOXA13 to panel
VACTERL-like phenotypes HOXA13 Richard Scott reviewed HOXA13
Generalised pustular psoriasis ZNF750 Sarah Leigh marked ZNF750 as ready
Generalised pustular psoriasis ZNF750 Sarah Leigh commented on ZNF750
Generalised pustular psoriasis TRPV3 Sarah Leigh marked TRPV3 as ready
Generalised pustular psoriasis TRPV3 Sarah Leigh commented on TRPV3
Generalised pustular psoriasis STAT2 Sarah Leigh marked STAT2 as ready
Generalised pustular psoriasis STAT2 Sarah Leigh commented on STAT2
Generalised pustular psoriasis NOD2 Sarah Leigh marked NOD2 as ready
Generalised pustular psoriasis NOD2 Sarah Leigh commented on NOD2
Generalised pustular psoriasis MSMO1 Sarah Leigh marked MSMO1 as ready
Generalised pustular psoriasis MSMO1 Sarah Leigh commented on MSMO1
Generalised pustular psoriasis AP1S3 Sarah Leigh marked AP1S3 as ready
Generalised pustular psoriasis AP1S3 Sarah Leigh commented on AP1S3
Generalised pustular psoriasis AP1S3 Sarah Leigh classified AP1S3 as red
Generalised pustular psoriasis CARD14 Sarah Leigh marked CARD14 as ready
Generalised pustular psoriasis CARD14 Sarah Leigh commented on CARD14
Generalised pustular psoriasis SLC39A4 Sarah Leigh marked SLC39A4 as ready
Generalised pustular psoriasis SLC39A4 Sarah Leigh classified SLC39A4 as red
Generalised pustular psoriasis SLC39A4 Sarah Leigh commented on SLC39A4
Generalised pustular psoriasis PSTPIP1 Sarah Leigh marked PSTPIP1 as ready
Generalised pustular psoriasis PSTPIP1 Sarah Leigh commented on PSTPIP1
Generalised pustular psoriasis PSTPIP1 Sarah Leigh classified PSTPIP1 as red
Generalised pustular psoriasis IL36RN Sarah Leigh marked IL36RN as ready
Generalised pustular psoriasis IL36RN Sarah Leigh commented on IL36RN
Generalised pustular psoriasis IL36RN Sarah Leigh classified IL36RN as green
Hyperammonaemia ACADS Sarah Leigh marked ACADS as ready
Hyperammonaemia ACADS Sarah Leigh commented on ACADS
Hyperammonaemia ACADL Sarah Leigh marked ACADL as ready
Hyperammonaemia ACADL Sarah Leigh commented on ACADL
Hyperammonaemia ACAD9 Sarah Leigh marked ACAD9 as ready
Hyperammonaemia ACAD9 Sarah Leigh commented on ACAD9
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Ellen McDonagh classified TBK1 as amber
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Ellen McDonagh commented on TBK1
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Ellen McDonagh commented on SIGMAR1
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Ellen McDonagh classified SIGMAR1 as amber
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Ellen McDonagh classified PFN1 as amber
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Ellen McDonagh commented on PFN1
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Ellen McDonagh classified HNRNPA1 as amber
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Ellen McDonagh commented on HNRNPA1
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Ellen McDonagh classified ERBB4 as amber
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Ellen McDonagh commented on ERBB4
Amyotrophic lateral sclerosis/motor neuron disease CHCHD10 Ellen McDonagh classified CHCHD10 as red
Amyotrophic lateral sclerosis/motor neuron disease CHCHD10 Ellen McDonagh commented on CHCHD10
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh marked ATXN2 as ready
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh classified ATXN2 as red
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Ellen McDonagh classified SLC52A3 as amber
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Ellen McDonagh commented on SLC52A2
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Ellen McDonagh classified SLC52A2 as amber
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Ellen McDonagh classified SLC52A1 as amber
Parkinson Disease and Complex Parkinsonism VPS13A Ellen McDonagh classified VPS13A as amber
Parkinson Disease and Complex Parkinsonism VPS13A Ellen McDonagh commented on VPS13A
Parkinson Disease and Complex Parkinsonism UCHL1 Ellen McDonagh classified UCHL1 as red
Parkinson Disease and Complex Parkinsonism UCHL1 Ellen McDonagh commented on UCHL1
Parkinson Disease and Complex Parkinsonism TBP Ellen McDonagh marked TBP as ready
Parkinson Disease and Complex Parkinsonism TBP Ellen McDonagh classified TBP as red
Parkinson Disease and Complex Parkinsonism SYNJ1 Ellen McDonagh classified SYNJ1 as amber
Parkinson Disease and Complex Parkinsonism SYNJ1 Ellen McDonagh commented on SYNJ1
Parkinson Disease and Complex Parkinsonism SPG11 Ellen McDonagh classified SPG11 as amber
Parkinson Disease and Complex Parkinsonism SPG11 Ellen McDonagh commented on SPG11
Hyperammonaemia ETFDH Sarah Leigh commented on ETFDH
Parkinson Disease and Complex Parkinsonism SNCAIP Ellen McDonagh classified SNCAIP as red
Parkinson Disease and Complex Parkinsonism SNCAIP Ellen McDonagh commented on SNCAIP
Hyperammonaemia ETFB Sarah Leigh commented on ETFB
Hyperammonaemia ETFA Sarah Leigh commented on ETFA
Hyperammonaemia DBT Sarah Leigh commented on DBT
Hyperammonaemia BCKDHB Sarah Leigh commented on BCKDHB
Hyperammonaemia BCKDHA Sarah Leigh commented on BCKDHA
Hyperammonaemia AUH Sarah Leigh edited their review of AUH
Hyperammonaemia AUH Sarah Leigh marked AUH as ready
Hyperammonaemia AUH Sarah Leigh commented on AUH
Parkinson Disease and Complex Parkinsonism SLC41A1 Ellen McDonagh marked SLC41A1 as ready
Parkinson Disease and Complex Parkinsonism SLC41A1 Ellen McDonagh classified SLC41A1 as red
Parkinson Disease and Complex Parkinsonism SLC41A1 Ellen McDonagh commented on SLC41A1
Hyperammonaemia ALDH18A1 Sarah Leigh marked ALDH18A1 as ready
Parkinson Disease and Complex Parkinsonism SLC30A10 Ellen McDonagh classified SLC30A10 as amber
Parkinson Disease and Complex Parkinsonism SLC30A10 Ellen McDonagh commented on SLC30A10
Hyperammonaemia ALDH18A1 Sarah Leigh commented on ALDH18A1
Paediatric motor neuronopathies AR Alice Gardham marked AR as ready
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh classified RAB39B as amber
Neurofibromatosis Type 1 UBE2T Alice Gardham marked UBE2T as ready
Neurofibromatosis Type 1 ERCC4 Alice Gardham marked ERCC4 as ready
Neurofibromatosis Type 1 ERCC4 Alice Gardham classified ERCC4 as red
Neurofibromatosis Type 1 RAD51C Alice Gardham marked RAD51C as ready
Neurofibromatosis Type 1 GNAS Alice Gardham marked GNAS as ready
Neurofibromatosis Type 1 FANCM Alice Gardham marked FANCM as ready
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh classified RAB39B as red
Parkinson Disease and Complex Parkinsonism RAB39B Ellen McDonagh commented on RAB39B
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh classified PRKRA as amber
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh commented on PRKRA
Parkinson Disease and Complex Parkinsonism PRKRA Ellen McDonagh classified PRKRA as amber
Early onset dystonia PRKRA Ellen McDonagh edited their review of PRKRA
Early onset dystonia PRKRA Ellen McDonagh edited their review of PRKRA
Parkinson Disease and Complex Parkinsonism NR4A2 Ellen McDonagh marked NR4A2 as ready
Currarino triad Rebecca Foulger promoted panel to version 1
Parkinson Disease and Complex Parkinsonism NR4A2 Ellen McDonagh classified NR4A2 as red
Parkinson Disease and Complex Parkinsonism NR4A2 Ellen McDonagh commented on NR4A2
Parkinson Disease and Complex Parkinsonism GRN Ellen McDonagh classified GRN as amber
Parkinson Disease and Complex Parkinsonism GRN Ellen McDonagh commented on GRN
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh classified GNAL as amber
Parkinson Disease and Complex Parkinsonism GIGYF2 Ellen McDonagh marked GIGYF2 as ready
Parkinson Disease and Complex Parkinsonism GIGYF2 Ellen McDonagh classified GIGYF2 as red
Parkinson Disease and Complex Parkinsonism GIGYF2 Ellen McDonagh commented on GIGYF2
Currarino triad VANGL1 Rebecca Foulger classified VANGL1 as red
Currarino triad VANGL1 Rebecca Foulger commented on VANGL1
Currarino triad MNX1 Rebecca Foulger marked MNX1 as ready
Retinal disorders AGBL5 Ellen Thomas added AGBL5 to panel
Retinal disorders AGBL5 Ellen Thomas reviewed AGBL5
Cerebellar hypoplasia TSEN15 Alice Gardham added TSEN15 to panel
Cerebellar hypoplasia TSEN15 Alice Gardham reviewed TSEN15
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh marked GBA as ready
Currarino triad ZIC3 Richard Scott reviewed ZIC3
Currarino triad VANGL2 Richard Scott reviewed VANGL2
Currarino triad T Richard Scott reviewed T
Currarino triad SHH Richard Scott reviewed SHH
Currarino triad PCSK5 Richard Scott reviewed PCSK5
Currarino triad PAM16 Richard Scott reviewed PAM16
Currarino triad GDF6 Richard Scott reviewed GDF6
Currarino triad GDF11 Richard Scott reviewed GDF11
Currarino triad FUZ Richard Scott reviewed FUZ
Currarino triad VANGL1 Richard Scott reviewed VANGL1
Currarino triad MNX1 Richard Scott reviewed MNX1
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as red
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh commented on GBA
Cerebellar hypoplasia VPS53 Alice Gardham classified VPS53 as amber
Cerebellar hypoplasia VPS53 Alice Gardham reviewed VPS53
Cerebellar hypoplasia SPTBN2 Alice Gardham marked SPTBN2 as ready
Cerebellar hypoplasia SPTBN2 Alice Gardham commented on SPTBN2
Cerebellar hypoplasia KCNC3 Alice Gardham marked KCNC3 as ready
Cerebellar hypoplasia KCNC3 Alice Gardham commented on KCNC3
Parkinson Disease and Complex Parkinsonism EIF4G1 Ellen McDonagh marked EIF4G1 as ready
Parkinson Disease and Complex Parkinsonism EIF4G1 Ellen McDonagh classified EIF4G1 as red
Parkinson Disease and Complex Parkinsonism EIF4G1 Ellen McDonagh commented on EIF4G1
Differences in sex development TSPYL1 Sarah Leigh marked TSPYL1 as ready
Differences in sex development TSPYL1 Sarah Leigh classified TSPYL1 as red
Cerebellar hypoplasia ITPR1 Alice Gardham commented on ITPR1
Cerebellar hypoplasia ITPR1 Alice Gardham marked ITPR1 as ready
Cerebellar hypoplasia EXOSC8 Alice Gardham reviewed EXOSC8
Cerebellar hypoplasia CLP1 Alice Gardham classified CLP1 as green
Parkinson Disease and Complex Parkinsonism DNAJC6 Ellen McDonagh classified DNAJC6 as amber
Parkinson Disease and Complex Parkinsonism DNAJC6 Ellen McDonagh commented on DNAJC6
Cerebellar hypoplasia CLP1 Alice Gardham reviewed CLP1
Parkinson Disease and Complex Parkinsonism CSF1R Ellen McDonagh classified CSF1R as amber
Cerebellar hypoplasia OPHN1 Alice Gardham classified OPHN1 as green
Differences in sex development TSPYL1 Sarah Leigh classified TSPYL1 as red
Cerebellar hypoplasia VLDLR Alice Gardham classified VLDLR as green
Cerebellar hypoplasia VLDLR Alice Gardham marked VLDLR as ready
Cerebellar hypoplasia VLDLR Alice Gardham reviewed VLDLR
Cerebellar hypoplasia OPHN1 Alice Gardham marked OPHN1 as ready
Cerebellar hypoplasia OPHN1 Alice Gardham commented on OPHN1
Cerebellar hypoplasia CHMP1A Alice Gardham reviewed CHMP1A
Cerebellar hypoplasia CASK Alice Gardham marked CASK as ready
Cerebellar hypoplasia CASK Alice Gardham commented on CASK
Cerebellar hypoplasia CASK Alice Gardham classified CASK as green
Cerebellar hypoplasia AMPD2 Alice Gardham classified AMPD2 as green
Cerebellar hypoplasia AMPD2 Alice Gardham classified AMPD2 as red
Cerebellar hypoplasia AMPD2 Alice Gardham marked AMPD2 as ready
Cerebellar hypoplasia AMPD2 Alice Gardham reviewed AMPD2
Cerebellar hypoplasia VRK1 Alice Gardham reviewed VRK1
Cerebellar hypoplasia TSEN54 Alice Gardham marked TSEN54 as ready
Cerebellar hypoplasia TSEN34 Alice Gardham reviewed TSEN34
Cerebellar hypoplasia TSEN34 Alice Gardham classified TSEN34 as amber
Cerebellar hypoplasia TSEN2 Alice Gardham marked TSEN2 as ready
Cerebellar hypoplasia TSEN2 Alice Gardham commented on TSEN2
Cerebellar hypoplasia SEPSECS Alice Gardham marked SEPSECS as ready
Cerebellar hypoplasia SEPSECS Alice Gardham commented on SEPSECS
Cerebellar hypoplasia RARS2 Alice Gardham marked RARS2 as ready
Cerebellar hypoplasia RARS2 Alice Gardham reviewed RARS2
Cerebellar hypoplasia EXOSC3 Alice Gardham marked EXOSC3 as ready
Paediatric motor neuronopathies TRPV4 Alice Gardham marked TRPV4 as ready
Paediatric motor neuronopathies SYT2 Alice Gardham marked SYT2 as ready
Paediatric motor neuronopathies SNRPN Alice Gardham marked SNRPN as ready
Paediatric motor neuronopathies PLEKHG5 Alice Gardham marked PLEKHG5 as ready
Paediatric motor neuronopathies PLEKHG5 Alice Gardham marked PLEKHG5 as ready
Paediatric motor neuronopathies MEG3 Alice Gardham marked MEG3 as ready
Paediatric motor neuronopathies HSPB8 Alice Gardham marked HSPB8 as ready
Paediatric motor neuronopathies HSPB3 Alice Gardham marked HSPB3 as ready
Paediatric motor neuronopathies HSPB1 Alice Gardham marked HSPB1 as ready
Paediatric motor neuronopathies GARS Alice Gardham marked GARS as ready
Paediatric motor neuronopathies DYNC1H1 Alice Gardham marked DYNC1H1 as ready
Paediatric motor neuronopathies DNAJB2 Alice Gardham marked DNAJB2 as ready
Paediatric motor neuronopathies DCTN1 Alice Gardham marked DCTN1 as ready
Paediatric motor neuronopathies CHCHD10 Alice Gardham marked CHCHD10 as ready
Paediatric motor neuronopathies BSCL2 Alice Gardham marked BSCL2 as ready
Paediatric motor neuronopathies BICD2 Alice Gardham marked BICD2 as ready
Paediatric motor neuronopathies ATP7A Alice Gardham marked ATP7A as ready
Parkinson Disease and Complex Parkinsonism ATXN3 Ellen McDonagh marked ATXN3 as ready
Parkinson Disease and Complex Parkinsonism FTL Ellen McDonagh classified FTL as green
Parkinson Disease and Complex Parkinsonism FTL Ellen McDonagh commented on FTL
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh marked C9orf72 as ready
Parkinson Disease and Complex Parkinsonism ATXN3 Ellen McDonagh classified ATXN3 as red
Parkinson Disease and Complex Parkinsonism ATXN2 Ellen McDonagh marked ATXN2 as ready
Parkinson Disease and Complex Parkinsonism ATXN2 Ellen McDonagh classified ATXN2 as red
Parkinson Disease and Complex Parkinsonism WDR45 Ellen McDonagh marked WDR45 as ready
Parkinson Disease and Complex Parkinsonism WDR45 Ellen McDonagh classified WDR45 as green
Parkinson Disease and Complex Parkinsonism VPS35 Ellen McDonagh classified VPS35 as amber
Parkinson Disease and Complex Parkinsonism TUBB4A Ellen McDonagh classified TUBB4A as amber
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh classified TOR1A as amber
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh classified TOR1A as green
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh classified THAP1 as amber
Parkinson Disease and Complex Parkinsonism TH Ellen McDonagh marked TH as ready
Parkinson Disease and Complex Parkinsonism TH Ellen McDonagh classified TH as green
Paediatric motor neuronopathies AARS Alice Gardham marked AARS as ready
Parkinson Disease and Complex Parkinsonism SPR Ellen McDonagh marked SPR as ready
Paediatric motor neuronopathies SLC52A3 Alice Gardham marked SLC52A3 as ready
Parkinson Disease and Complex Parkinsonism SPR Ellen McDonagh classified SPR as green
Paediatric motor neuronopathies SLC52A2 Alice Gardham marked SLC52A2 as ready
Paediatric motor neuronopathies IGHMBP2 Alice Gardham marked IGHMBP2 as ready
Neurofibromatosis Type 1 SPRED1 Alice Gardham marked SPRED1 as ready
Neurofibromatosis Type 1 SLX4 Alice Gardham marked SLX4 as ready
Neurofibromatosis Type 1 PMS2 Alice Gardham marked PMS2 as ready
Neurofibromatosis Type 1 PALB2 Alice Gardham marked PALB2 as ready
Neurofibromatosis Type 1 NF1 Alice Gardham marked NF1 as ready
Neurofibromatosis Type 1 MSH6 Alice Gardham marked MSH6 as ready
Neurofibromatosis Type 1 MSH2 Alice Gardham marked MSH2 as ready
Neurofibromatosis Type 1 MLH1 Alice Gardham marked MLH1 as ready
Neurofibromatosis Type 1 FANCL Alice Gardham marked FANCL as ready
Neurofibromatosis Type 1 FANCI Alice Gardham marked FANCI as ready
Neurofibromatosis Type 1 FANCG Alice Gardham marked FANCG as ready
Neurofibromatosis Type 1 FANCF Alice Gardham marked FANCF as ready
Neurofibromatosis Type 1 FANCE Alice Gardham marked FANCE as ready
Neurofibromatosis Type 1 FANCD2 Alice Gardham marked FANCD2 as ready
Neurofibromatosis Type 1 FANCC Alice Gardham marked FANCC as ready
Neurofibromatosis Type 1 FANCB Alice Gardham marked FANCB as ready
Neurofibromatosis Type 1 FANCA Alice Gardham marked FANCA as ready
Neurofibromatosis Type 1 BRIP1 Alice Gardham marked BRIP1 as ready
Neurofibromatosis Type 1 BRCA2 Alice Gardham marked BRCA2 as ready
Paediatric motor neuronopathies DCTN1 Alice Gardham classified DCTN1 as red
Paediatric motor neuronopathies DCTN1 Alice Gardham commented on DCTN1
Paediatric motor neuronopathies SYT2 Alice Gardham classified SYT2 as red
Paediatric motor neuronopathies SYT2 Alice Gardham commented on SYT2
Paediatric motor neuronopathies SNRPN Alice Gardham classified SNRPN as red
Paediatric motor neuronopathies SNRPN Alice Gardham commented on SNRPN
Paediatric motor neuronopathies MEG3 Alice Gardham classified MEG3 as red
Paediatric motor neuronopathies MEG3 Alice Gardham commented on MEG3
Paediatric motor neuronopathies HSPB8 Alice Gardham classified HSPB8 as red
Paediatric motor neuronopathies HSPB8 Alice Gardham commented on HSPB8
Paediatric motor neuronopathies HSPB3 Alice Gardham classified HSPB3 as red
Paediatric motor neuronopathies HSPB3 Alice Gardham commented on HSPB3
Paediatric motor neuronopathies HSPB1 Alice Gardham classified HSPB1 as red
Paediatric motor neuronopathies HSPB1 Alice Gardham commented on HSPB1
Primary lymphoedema Sarah Leigh promoted panel to version 1
Paediatric motor neuronopathies GARS Alice Gardham classified GARS as red
Paediatric motor neuronopathies GARS Alice Gardham commented on GARS
Paediatric motor neuronopathies DYNC1H1 Alice Gardham classified DYNC1H1 as red
Paediatric motor neuronopathies DYNC1H1 Alice Gardham commented on DYNC1H1
Paediatric motor neuronopathies DNAJB2 Alice Gardham classified DNAJB2 as red
Paediatric motor neuronopathies DNAJB2 Alice Gardham commented on DNAJB2
Paediatric motor neuronopathies DNAJB2 Alice Gardham classified DNAJB2 as red
Parkinson Disease and Complex Parkinsonism SNCA Ellen McDonagh marked SNCA as ready
Differences in sex development ZFPM2 Sarah Leigh marked ZFPM2 as ready
Differences in sex development ZFPM2 Sarah Leigh classified ZFPM2 as green
Differences in sex development ZFPM2 Sarah Leigh commented on ZFPM2
Differences in sex development ZFPM2 Sarah Leigh classified ZFPM2 as green
Parkinson Disease and Complex Parkinsonism SLC6A3 Ellen McDonagh marked SLC6A3 as ready
Parkinson Disease and Complex Parkinsonism SLC6A3 Ellen McDonagh classified SLC6A3 as green
Parkinson Disease and Complex Parkinsonism SGCE Ellen McDonagh classified SGCE as amber
Differences in sex development TSPYL1 Sarah Leigh marked TSPYL1 as ready
Parkinson Disease and Complex Parkinsonism PLA2G6 Ellen McDonagh marked PLA2G6 as ready
Differences in sex development TSPYL1 Sarah Leigh classified TSPYL1 as amber
Parkinson Disease and Complex Parkinsonism PLA2G6 Ellen McDonagh classified PLA2G6 as green
Differences in sex development TSPYL1 Sarah Leigh commented on TSPYL1
Differences in sex development TSPYL1 Sarah Leigh classified TSPYL1 as green
Parkinson Disease and Complex Parkinsonism PINK1 Ellen McDonagh marked PINK1 as ready
Parkinson Disease and Complex Parkinsonism PINK1 Ellen McDonagh classified PINK1 as green
Paediatric motor neuronopathies CHCHD10 Alice Gardham classified CHCHD10 as red
Paediatric motor neuronopathies CHCHD10 Alice Gardham commented on CHCHD10
Parkinson Disease and Complex Parkinsonism PARK7 Ellen McDonagh marked PARK7 as ready
Paediatric motor neuronopathies BSCL2 Alice Gardham classified BSCL2 as red
Paediatric motor neuronopathies BSCL2 Alice Gardham commented on BSCL2
Parkinson Disease and Complex Parkinsonism PARK7 Ellen McDonagh classified PARK7 as green
Paediatric motor neuronopathies BICD2 Alice Gardham commented on BICD2
Paediatric motor neuronopathies BICD2 Alice Gardham classified BICD2 as red
Paediatric motor neuronopathies ATP7A Alice Gardham classified ATP7A as red
Paediatric motor neuronopathies ATP7A Alice Gardham commented on ATP7A
Parkinson Disease and Complex Parkinsonism PARK2 Ellen McDonagh marked PARK2 as ready
Parkinson Disease and Complex Parkinsonism PARK2 Ellen McDonagh classified PARK2 as green
Paediatric motor neuronopathies AARS Alice Gardham commented on AARS
Paediatric motor neuronopathies AARS Alice Gardham classified AARS as red
Parkinson Disease and Complex Parkinsonism PANK2 Ellen McDonagh marked PANK2 as ready
Parkinson Disease and Complex Parkinsonism PANK2 Ellen McDonagh classified PANK2 as green
Paediatric motor neuronopathies TRPV4 Alice Gardham classified TRPV4 as red
Paediatric motor neuronopathies TRPV4 Alice Gardham commented on TRPV4
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh marked MAPT as ready
Paediatric motor neuronopathies PLEKHG5 Alice Gardham classified PLEKHG5 as red
Paediatric motor neuronopathies PLEKHG5 Alice Gardham commented on PLEKHG5
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh classified MAPT as green
Paediatric motor neuronopathies AR Alice Gardham classified AR as green
Paediatric motor neuronopathies AR Alice Gardham commented on AR
Differences in sex development TAF4B Sarah Leigh marked TAF4B as ready
Differences in sex development MAP3K1 Sarah Leigh marked MAP3K1 as ready
Differences in sex development MAP3K1 Sarah Leigh classified MAP3K1 as green
Differences in sex development MAP3K1 Sarah Leigh commented on MAP3K1
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as amber
Differences in sex development HSD17B2 Sarah Leigh marked HSD17B2 as ready
Differences in sex development HSD17B2 Sarah Leigh commented on HSD17B2
Paediatric motor neuronopathies ALS2 Alice Gardham added ALS2 to panel
Paediatric motor neuronopathies ALS2 Alice Gardham reviewed ALS2
Differences in sex development HHAT Sarah Leigh marked HHAT as ready
Differences in sex development HHAT Sarah Leigh commented on HHAT
Paediatric motor neuronopathies IGHMBP2 Alice Gardham classified IGHMBP2 as green
Paediatric motor neuronopathies IGHMBP2 Alice Gardham commented on IGHMBP2
Paediatric motor neuronopathies SMN1 Alice Gardham reviewed SMN1
Paediatric motor neuronopathies SLC52A1 Alice Gardham reviewed SLC52A1
Paediatric motor neuronopathies SLC52A1 Alice Gardham reviewed SLC52A1
Paediatric motor neuronopathies SLC52A2 Alice Gardham classified SLC52A2 as green
Paediatric motor neuronopathies SLC52A2 Alice Gardham reviewed SLC52A2
Paediatric motor neuronopathies SLC52A3 Alice Gardham classified SLC52A3 as green
Paediatric motor neuronopathies SLC52A3 Alice Gardham reviewed SLC52A3
Primary lymphoedema CDC42 Sarah Leigh marked CDC42 as ready
Primary lymphoedema CDC42 Sarah Leigh commented on CDC42
Neurofibromatosis Type 1 UBE2T Alice Gardham added UBE2T to panel
Neurofibromatosis Type 1 UBE2T Alice Gardham reviewed UBE2T
Neurofibromatosis Type 1 SLX4 Alice Gardham reviewed SLX4
Neurofibromatosis Type 1 PALB2 Alice Gardham reviewed PALB2
Primary lymphoedema VEGFC Sarah Leigh marked VEGFC as ready
Primary lymphoedema VEGFC Sarah Leigh commented on VEGFC
Neurofibromatosis Type 1 FANCM Alice Gardham reviewed FANCM
Primary lymphoedema SOX18 Sarah Leigh marked SOX18 as ready
Primary lymphoedema PIEZO1 Sarah Leigh marked PIEZO1 as ready
Neurofibromatosis Type 1 FANCL Alice Gardham reviewed FANCL
Primary lymphoedema PIEZO1 Sarah Leigh commented on PIEZO1
Primary lymphoedema KIF11 Sarah Leigh marked KIF11 as ready
Primary lymphoedema KIF11 Sarah Leigh commented on KIF11
Neurofibromatosis Type 1 ERCC4 Alice Gardham reviewed ERCC4
Primary lymphoedema IKBKG Sarah Leigh marked IKBKG as ready
Primary lymphoedema IKBKG Sarah Leigh commented on IKBKG
Neurofibromatosis Type 1 RAD51C Alice Gardham reviewed RAD51C
Primary lymphoedema GJC2 Sarah Leigh marked GJC2 as ready
Primary lymphoedema GJC2 Sarah Leigh commented on GJC2
Primary lymphoedema GATA2 Sarah Leigh marked GATA2 as ready
Primary lymphoedema GATA2 Sarah Leigh commented on GATA2
Neurofibromatosis Type 1 PMS2 Alice Gardham added PMS2 to panel
Neurofibromatosis Type 1 PMS2 Alice Gardham reviewed PMS2
Neurofibromatosis Type 1 MSH6 Alice Gardham added MSH6 to panel
Neurofibromatosis Type 1 MSH6 Alice Gardham reviewed MSH6
Neurofibromatosis Type 1 MSH2 Alice Gardham added MSH2 to panel
Neurofibromatosis Type 1 MSH2 Alice Gardham reviewed MSH2
Primary lymphoedema GJA1 Sarah Leigh commented on GJA1
Neurofibromatosis Type 1 SPRED1 Alice Gardham classified SPRED1 as green
Neurofibromatosis Type 1 GNAS Alice Gardham classified GNAS as green
Neurofibromatosis Type 1 MLH1 Alice Gardham added MLH1 to panel
Neurofibromatosis Type 1 MLH1 Alice Gardham reviewed MLH1
Cerebral vascular malformations Ellen McDonagh approved panel
Primary lymphoedema CCDC88A Sarah Leigh marked CCDC88A as ready
Primary lymphoedema CCDC88A Sarah Leigh commented on CCDC88A
Primary lymphoedema AQP1 Sarah Leigh marked AQP1 as ready
Primary lymphoedema AQP1 Sarah Leigh commented on AQP1
Primary lymphoedema ALX3 Sarah Leigh marked ALX3 as ready
Primary lymphoedema ALX3 Sarah Leigh classified ALX3 as red
Primary lymphoedema ALX3 Sarah Leigh commented on ALX3
Primary lymphoedema PTPN14 Sarah Leigh marked PTPN14 as ready
Primary lymphoedema PTPN14 Sarah Leigh commented on PTPN14
Primary lymphoedema TTR Sarah Leigh marked TTR as ready
Primary lymphoedema TTR Sarah Leigh commented on TTR
Primary lymphoedema TTR Sarah Leigh classified TTR as red
Primary lymphoedema PTPN14 Pia Ostergaard commented on PTPN14
Primary lymphoedema TTR Pia Ostergaard reviewed TTR
Primary lymphoedema EPHB4 Pia Ostergaard reviewed EPHB4
Primary lymphoedema CDC42 Pia Ostergaard reviewed CDC42
Primary lymphoedema CCDC88A Pia Ostergaard reviewed CCDC88A
Primary lymphoedema AQP1 Pia Ostergaard reviewed AQP1
Primary lymphoedema ALX3 Pia Ostergaard reviewed ALX3
Differences in sex development DMRT1 Sarah Leigh marked DMRT1 as ready
Differences in sex development DMRT1 Sarah Leigh commented on DMRT1
Differences in sex development DGKQ Sarah Leigh commented on DGKQ
Differences in sex development DGKQ Sarah Leigh marked DGKQ as ready
Malformations of cortical development TUBA1A Sarah Leigh marked TUBA1A as ready
Malformations of cortical development TUBA1A Sarah Leigh commented on TUBA1A
Malformations of cortical development TUBA1A Sarah Leigh classified TUBA1A as green
Malformations of cortical development FLNA Sarah Leigh classified FLNA as green
Malformations of cortical development NDE1 Sarah Leigh marked NDE1 as ready
Malformations of cortical development NDE1 Sarah Leigh commented on NDE1
Malformations of cortical development NDE1 Sarah Leigh classified NDE1 as green
Malformations of cortical development FLNA Sarah Leigh classified FLNA as green
Malformations of cortical development FLNA Sarah Leigh marked FLNA as ready
Malformations of cortical development FLNA Sarah Leigh commented on FLNA
Malformations of cortical development DCX Sarah Leigh marked DCX as ready
Malformations of cortical development DCX Sarah Leigh commented on DCX
Malformations of cortical development DCX Sarah Leigh classified DCX as green
Malformations of cortical development ARX Sarah Leigh marked ARX as ready
Malformations of cortical development ARX Sarah Leigh commented on ARX
Malformations of cortical development ARX Sarah Leigh classified ARX as green
Malformations of cortical development PAFAH1B1 Sarah Leigh marked PAFAH1B1 as ready
Malformations of cortical development PAFAH1B1 Sarah Leigh commented on PAFAH1B1
Malformations of cortical development ADGRG1 Sarah Leigh marked ADGRG1 as ready
Malformations of cortical development ADGRG1 Sarah Leigh commented on ADGRG1
Malformations of cortical development ADGRG1 Sarah Leigh classified ADGRG1 as green
Neurofibromatosis Type 1 GNAS Alice Gardham added GNAS to panel
Neurofibromatosis Type 1 GNAS Alice Gardham reviewed GNAS
Neurofibromatosis Type 1 SPRED1 Alice Gardham edited their review of SPRED1
Neurofibromatosis Type 1 SPRED1 Alice Gardham added SPRED1 to panel
Neurofibromatosis Type 1 SPRED1 Alice Gardham reviewed SPRED1
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh classified GNAL as red
Multiple lipomas EGFR Ellen McDonagh added EGFR to panel
Multiple lipomas EGFR Ellen McDonagh reviewed EGFR
Multiple lipomas HMGA2 Ellen McDonagh added HMGA2 to panel
Multiple lipomas HMGA2 Ellen McDonagh reviewed HMGA2
Undiagnosed metabolic disorders C10orf2 Sarah Leigh added C10orf2 to panel
Undiagnosed metabolic disorders C10orf2 Sarah Leigh reviewed C10orf2
Multiple lipomas MDM2 Ellen McDonagh added MDM2 to panel
Multiple lipomas MDM2 Ellen McDonagh reviewed MDM2
Undiagnosed metabolic disorders LARGE Sarah Leigh added LARGE to panel
Undiagnosed metabolic disorders LARGE Sarah Leigh reviewed LARGE
Undiagnosed metabolic disorders B3GALTL Sarah Leigh added B3GALTL to panel
Undiagnosed metabolic disorders B3GALTL Sarah Leigh reviewed B3GALTL
Undiagnosed metabolic disorders ADCK3 Sarah Leigh added ADCK3 to panel
Undiagnosed metabolic disorders ADCK3 Sarah Leigh reviewed ADCK3
Undiagnosed metabolic disorders ADCK3 Sarah Leigh commented on ADCK3
Hypogonadotropic hypogonadism Ellen McDonagh promoted panel to version 1
Hypogonadotropic hypogonadism SEMA3A Ellen McDonagh classified SEMA3A as red
Hypogonadotropic hypogonadism SEMA3A Ellen McDonagh commented on SEMA3A
Hypogonadotropic hypogonadism SPRY4 Ellen McDonagh classified SPRY4 as red
Hypogonadotropic hypogonadism SPRY4 Ellen McDonagh classified SPRY4 as green
Hypogonadotropic hypogonadism SPRY4 Ellen McDonagh commented on SPRY4
Hypogonadotropic hypogonadism PROKR2 Ellen McDonagh commented on PROKR2
Hypogonadotropic hypogonadism PROK2 Ellen McDonagh commented on PROK2
Hypogonadotropic hypogonadism NSMF Ellen McDonagh commented on NSMF
Hypogonadotropic hypogonadism KAL1 Ellen McDonagh commented on KAL1
Hypogonadotropic hypogonadism IL17RD Ellen McDonagh commented on IL17RD
Hypogonadotropic hypogonadism FGFR1 Ellen McDonagh commented on FGFR1
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as green
Parkinson Disease and Complex Parkinsonism GCH1 Ellen McDonagh marked GCH1 as ready
Parkinson Disease and Complex Parkinsonism GCH1 Ellen McDonagh classified GCH1 as green
Parkinson Disease and Complex Parkinsonism FBXO7 Ellen McDonagh marked FBXO7 as ready
Parkinson Disease and Complex Parkinsonism FBXO7 Ellen McDonagh classified FBXO7 as green
Parkinson Disease and Complex Parkinsonism DCTN1 Ellen McDonagh marked DCTN1 as ready
Parkinson Disease and Complex Parkinsonism DCTN1 Ellen McDonagh classified DCTN1 as green
Parkinson Disease and Complex Parkinsonism C19orf12 Ellen McDonagh marked C19orf12 as ready
Parkinson Disease and Complex Parkinsonism C19orf12 Ellen McDonagh classified C19orf12 as green
Parkinson Disease and Complex Parkinsonism ATP1A3 Ellen McDonagh marked ATP1A3 as ready
Parkinson Disease and Complex Parkinsonism ATP1A3 Ellen McDonagh classified ATP1A3 as green
Parkinson Disease and Complex Parkinsonism ATP13A2 Ellen McDonagh marked ATP13A2 as ready
Parkinson Disease and Complex Parkinsonism ATP13A2 Ellen McDonagh classified ATP13A2 as green
Parkinson Disease and Complex Parkinsonism ANO3 Ellen McDonagh marked ANO3 as ready
Parkinson Disease and Complex Parkinsonism ANO3 Ellen McDonagh classified ANO3 as green
Primary lymphoedema PTPN14 Pia Ostergaard edited their review of PTPN14
Primary lymphoedema TTR Pia Ostergaard reviewed TTR
Primary lymphoedema EPHB4 Pia Ostergaard edited their review of EPHB4
Primary lymphoedema CDC42 Pia Ostergaard reviewed CDC42
Primary lymphoedema CCDC88A Pia Ostergaard reviewed CCDC88A
Primary lymphoedema AQP1 Pia Ostergaard reviewed AQP1
Primary lymphoedema ALX3 Pia Ostergaard reviewed ALX3
Intellectual disability CSNK2A1 Ellen Thomas added CSNK2A1 to panel
Intellectual disability CSNK2A1 Ellen Thomas reviewed CSNK2A1
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Ellen McDonagh approved panel
Primary lymphoedema EPHB4 Sarah Leigh marked EPHB4 as ready
Primary lymphoedema EPHB4 Sarah Leigh classified EPHB4 as green
Primary lymphoedema EPHB4 Sarah Leigh commented on EPHB4
Deafness and congenital structural abnormalities Ellen McDonagh promoted panel to version 1
Deafness and congenital structural abnormalities SALL4 Richard Scott classified SALL4 as green
Deafness and congenital structural abnormalities HOXA2 Ellen McDonagh classified HOXA2 as green
Deafness and congenital structural abnormalities HOXA2 Ellen McDonagh classified HOXA2 as amber
Gastrointestinal neuromuscular disorders Ellen McDonagh promoted panel to version 1
Deafness and congenital structural abnormalities KDM6A Richard Scott classified KDM6A as green
Deafness and congenital structural abnormalities KMT2D Richard Scott classified KMT2D as green
Deafness and congenital structural abnormalities KDM6A Richard Scott reviewed KDM6A
Deafness and congenital structural abnormalities KMT2D Richard Scott reviewed KMT2D
Deafness and congenital structural abnormalities HSPA9 Richard Scott marked HSPA9 as ready
Deafness and congenital structural abnormalities HSPA9 Richard Scott classified HSPA9 as green
Deafness and congenital structural abnormalities HSPA9 Richard Scott added HSPA9 to panel
Deafness and congenital structural abnormalities HSPA9 Richard Scott reviewed HSPA9
Deafness and congenital structural abnormalities SALL4 Richard Scott classified SALL4 as amber
Deafness and congenital structural abnormalities SALL4 Richard Scott commented on SALL4
Deafness and congenital structural abnormalities BMP4 Richard Scott classified BMP4 as green
Deafness and congenital structural abnormalities BMP4 Richard Scott classified BMP4 as green
Deafness and congenital structural abnormalities BMP4 Richard Scott reviewed BMP4
Multiple lipomas MT-TK Ellen McDonagh added MT-TK to panel
Multiple lipomas MT-TK Ellen McDonagh reviewed MT-TK
Gastrointestinal neuromuscular disorders SCN11A Richard Scott classified SCN11A as green
Gastrointestinal neuromuscular disorders SCN11A Richard Scott commented on SCN11A
Gastrointestinal neuromuscular disorders RRM2B Richard Scott classified RRM2B as green
Gastrointestinal neuromuscular disorders RRM2B Richard Scott commented on RRM2B
Gastrointestinal neuromuscular disorders RET Richard Scott classified RET as green
Gastrointestinal neuromuscular disorders RET Richard Scott commented on RET
Gastrointestinal neuromuscular disorders L1CAM Richard Scott classified L1CAM as amber
Gastrointestinal neuromuscular disorders L1CAM Richard Scott commented on L1CAM
Gastrointestinal neuromuscular disorders EVC2 Richard Scott classified EVC2 as red
Gastrointestinal neuromuscular disorders EVC2 Richard Scott commented on EVC2
Gastrointestinal neuromuscular disorders EVC2 Richard Scott classified EVC2 as green
Gastrointestinal neuromuscular disorders DMD Richard Scott classified DMD as green
Gastrointestinal neuromuscular disorders DMD Richard Scott commented on DMD
Familial Neural Tube Defects Ellen McDonagh promoted panel to version 1
Familial Neural Tube Defects ZIC2 Ellen McDonagh classified ZIC2 as red
Familial Neural Tube Defects VANGL1 Ellen McDonagh classified VANGL1 as red
Familial Neural Tube Defects TMEM67 Ellen McDonagh classified TMEM67 as red
Familial Neural Tube Defects RPGRIP1L Ellen McDonagh classified RPGRIP1L as red
Familial Neural Tube Defects MTHFR Ellen McDonagh classified MTHFR as red
Familial Neural Tube Defects LFNG Ellen McDonagh classified LFNG as red
Familial Neural Tube Defects HES7 Ellen McDonagh classified HES7 as red
Familial Neural Tube Defects GDF6 Ellen McDonagh classified GDF6 as red
Familial Neural Tube Defects CDON Ellen McDonagh classified CDON as red
Familial Neural Tube Defects CC2D2A Ellen McDonagh classified CC2D2A as red
Familial Neural Tube Defects TMEM216 Ellen McDonagh classified TMEM216 as red
Familial Neural Tube Defects TCTN2 Ellen McDonagh classified TCTN2 as red
Familial Neural Tube Defects TCTN2 Ellen McDonagh classified TCTN2 as red
Familial Neural Tube Defects NPHP3 Ellen McDonagh classified NPHP3 as red
Familial Neural Tube Defects MKS1 Ellen McDonagh classified MKS1 as red
Familial Neural Tube Defects DLL3 Ellen McDonagh classified DLL3 as red
Familial Neural Tube Defects CEP290 Ellen McDonagh classified CEP290 as red
Familial Neural Tube Defects B9D2 Ellen McDonagh classified B9D2 as red
Familial Neural Tube Defects B9D1 Ellen McDonagh classified B9D1 as red
Severe early-onset obesity Ellen McDonagh promoted panel to version 1
Currarino triad SHH Rebecca Foulger commented on SHH
Currarino triad MNX1 Rebecca Foulger edited their review of MNX1
Currarino triad GDF11 Rebecca Foulger commented on GDF11
Currarino triad PCSK5 Rebecca Foulger commented on PCSK5
Currarino triad MNX1 Rebecca Foulger classified MNX1 as green
Currarino triad MNX1 Rebecca Foulger commented on MNX1
Currarino triad MNX1 Rebecca Foulger classified MNX1 as green
Parkinson Disease and Complex Parkinsonism Ellen McDonagh approved panel
Parkinson Disease and Complex Parkinsonism SNCA Ellen McDonagh classified SNCA as green
Parkinson Disease and Complex Parkinsonism TAF1 Ellen McDonagh classified TAF1 as amber
Parkinson Disease and Complex Parkinsonism GNAL Ellen McDonagh classified GNAL as amber
Parkinson Disease and Complex Parkinsonism WDR45 Ellen McDonagh classified WDR45 as green
Parkinson Disease and Complex Parkinsonism VPS35 Ellen McDonagh classified VPS35 as green
Parkinson Disease and Complex Parkinsonism TUBB4A Ellen McDonagh classified TUBB4A as green
Parkinson Disease and Complex Parkinsonism TOR1A Ellen McDonagh classified TOR1A as green
Parkinson Disease and Complex Parkinsonism THAP1 Ellen McDonagh classified THAP1 as green
Parkinson Disease and Complex Parkinsonism TH Ellen McDonagh classified TH as green
Parkinson Disease and Complex Parkinsonism SPR Ellen McDonagh classified SPR as green
Parkinson Disease and Complex Parkinsonism SLC6A3 Ellen McDonagh classified SLC6A3 as green
Parkinson Disease and Complex Parkinsonism SGCE Ellen McDonagh classified SGCE as green
Parkinson Disease and Complex Parkinsonism PLA2G6 Ellen McDonagh classified PLA2G6 as green
Parkinson Disease and Complex Parkinsonism PINK1 Ellen McDonagh classified PINK1 as green
Parkinson Disease and Complex Parkinsonism PARK7 Ellen McDonagh classified PARK7 as green
Parkinson Disease and Complex Parkinsonism PARK2 Ellen McDonagh classified PARK2 as green
Parkinson Disease and Complex Parkinsonism PANK2 Ellen McDonagh classified PANK2 as green
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh classified MAPT as green
Parkinson Disease and Complex Parkinsonism LRRK2 Ellen McDonagh classified LRRK2 as green
Parkinson Disease and Complex Parkinsonism GCH1 Ellen McDonagh classified GCH1 as green
Parkinson Disease and Complex Parkinsonism FBXO7 Ellen McDonagh classified FBXO7 as green
Parkinson Disease and Complex Parkinsonism DCTN1 Ellen McDonagh classified DCTN1 as green
Parkinson Disease and Complex Parkinsonism C19orf12 Ellen McDonagh classified C19orf12 as green
Parkinson Disease and Complex Parkinsonism ATP1A3 Ellen McDonagh classified ATP1A3 as green
Parkinson Disease and Complex Parkinsonism ATP13A2 Ellen McDonagh classified ATP13A2 as green
Parkinson Disease and Complex Parkinsonism ANO3 Ellen McDonagh classified ANO3 as green
Gastrointestinal neuromuscular disorders PTEN Ellen McDonagh edited their review of PTEN
Gastrointestinal neuromuscular disorders PTEN Ellen McDonagh classified PTEN as amber
Gastrointestinal neuromuscular disorders PTEN Ellen McDonagh commented on PTEN
Gastrointestinal neuromuscular disorders SOX10 Ellen McDonagh edited their review of SOX10
Gastrointestinal neuromuscular disorders SOX10 Ellen McDonagh classified SOX10 as green
Gastrointestinal neuromuscular disorders SOX10 Ellen McDonagh commented on SOX10
Gastrointestinal neuromuscular disorders SMO Ellen McDonagh edited their review of SMO
Gastrointestinal neuromuscular disorders SMO Ellen McDonagh classified SMO as red
Gastrointestinal neuromuscular disorders SMO Ellen McDonagh commented on SMO
Gastrointestinal neuromuscular disorders SGOL1 Ellen McDonagh edited their review of SGOL1
Gastrointestinal neuromuscular disorders SGOL1 Ellen McDonagh classified SGOL1 as red
Gastrointestinal neuromuscular disorders SGOL1 Ellen McDonagh commented on SGOL1
Gastrointestinal neuromuscular disorders SCN11A Ellen McDonagh edited their review of SCN11A
Gastrointestinal neuromuscular disorders SCN11A Ellen McDonagh classified SCN11A as amber
Gastrointestinal neuromuscular disorders SCN11A Ellen McDonagh classified SCN11A as red
Gastrointestinal neuromuscular disorders SCN11A Ellen McDonagh commented on SCN11A
Gastrointestinal neuromuscular disorders MT-TK Ellen McDonagh classified MT-TK as red
Gastrointestinal neuromuscular disorders MT-TK Ellen McDonagh commented on MT-TK
Gastrointestinal neuromuscular disorders L1CAM Ellen McDonagh edited their review of L1CAM
Gastrointestinal neuromuscular disorders L1CAM Ellen McDonagh classified L1CAM as amber
Gastrointestinal neuromuscular disorders L1CAM Ellen McDonagh commented on L1CAM
Gastrointestinal neuromuscular disorders EVC2 Ellen McDonagh edited their review of EVC2
Gastrointestinal neuromuscular disorders EVC2 Ellen McDonagh classified EVC2 as amber
Gastrointestinal neuromuscular disorders EVC2 Ellen McDonagh commented on EVC2
Gastrointestinal neuromuscular disorders DMD Ellen McDonagh edited their review of DMD
Gastrointestinal neuromuscular disorders DMD Ellen McDonagh classified DMD as amber
Gastrointestinal neuromuscular disorders DMD Ellen McDonagh commented on DMD
Gastrointestinal neuromuscular disorders ACTG2 Ellen McDonagh edited their review of ACTG2
Gastrointestinal neuromuscular disorders ACTG2 Ellen McDonagh classified ACTG2 as green
Gastrointestinal neuromuscular disorders ACTG2 Ellen McDonagh commented on ACTG2
Gastrointestinal neuromuscular disorders RET Ellen McDonagh edited their review of RET
Gastrointestinal neuromuscular disorders GDNF Ellen McDonagh edited their review of GDNF
Gastrointestinal neuromuscular disorders GDNF Ellen McDonagh edited their review of GDNF
Gastrointestinal neuromuscular disorders GDNF Ellen McDonagh classified GDNF as amber
Gastrointestinal neuromuscular disorders GDNF Ellen McDonagh commented on GDNF
Gastrointestinal neuromuscular disorders FLNA Ellen McDonagh edited their review of FLNA
Gastrointestinal neuromuscular disorders FLNA Ellen McDonagh classified FLNA as green
Gastrointestinal neuromuscular disorders FLNA Ellen McDonagh classified FLNA as amber
Gastrointestinal neuromuscular disorders FLNA Ellen McDonagh commented on FLNA
Gastrointestinal neuromuscular disorders TYMP Ellen McDonagh edited their review of TYMP
Gastrointestinal neuromuscular disorders TYMP Ellen McDonagh classified TYMP as green
Gastrointestinal neuromuscular disorders TYMP Ellen McDonagh commented on TYMP
Gastrointestinal neuromuscular disorders TMEM70 Ellen McDonagh edited their review of TMEM70
Gastrointestinal neuromuscular disorders TMEM70 Ellen McDonagh classified TMEM70 as green
Gastrointestinal neuromuscular disorders TMEM70 Ellen McDonagh commented on TMEM70
Gastrointestinal neuromuscular disorders RRM2B Ellen McDonagh edited their review of RRM2B
Gastrointestinal neuromuscular disorders RRM2B Ellen McDonagh classified RRM2B as amber
Gastrointestinal neuromuscular disorders RRM2B Ellen McDonagh commented on RRM2B
Gastrointestinal neuromuscular disorders RET Ellen McDonagh classified RET as amber
Gastrointestinal neuromuscular disorders RET Ellen McDonagh reviewed RET
Gastrointestinal neuromuscular disorders POLG Ellen McDonagh edited their review of POLG
Gastrointestinal neuromuscular disorders POLG Ellen McDonagh classified POLG as green
Gastrointestinal neuromuscular disorders POLG Ellen McDonagh commented on POLG
Gastrointestinal neuromuscular disorders IDS Ellen McDonagh edited their review of IDS
Gastrointestinal neuromuscular disorders IDS Ellen McDonagh classified IDS as green
Gastrointestinal neuromuscular disorders IDS Ellen McDonagh commented on IDS
Gastrointestinal neuromuscular disorders DMPK Ellen McDonagh edited their review of DMPK
Gastrointestinal neuromuscular disorders DMPK Ellen McDonagh classified DMPK as red
Gastrointestinal neuromuscular disorders DMPK Ellen McDonagh commented on DMPK
Gastrointestinal neuromuscular disorders DES Ellen McDonagh edited their review of DES
Gastrointestinal neuromuscular disorders DES Ellen McDonagh classified DES as green
Gastrointestinal neuromuscular disorders DES Ellen McDonagh commented on DES
Gastrointestinal neuromuscular disorders ATRX Ellen McDonagh edited their review of ATRX
Gastrointestinal neuromuscular disorders ATRX Ellen McDonagh classified ATRX as green
Gastrointestinal neuromuscular disorders ATRX Ellen McDonagh commented on ATRX
Retinal disorders TUB Ellen McDonagh edited their review of TUB
Retinal disorders TUB Ellen McDonagh edited their review of TUB
Retinal disorders TUB Ellen McDonagh edited their review of TUB
Severe early-onset obesity NTRK2 Ellen McDonagh classified NTRK2 as red
Severe early-onset obesity NTRK2 Ellen McDonagh commented on NTRK2
Severe early-onset obesity TRIM32 Ellen McDonagh marked TRIM32 as ready
Severe early-onset obesity TRIM32 Ellen McDonagh classified TRIM32 as red
Severe early-onset obesity TRIM32 Ellen McDonagh commented on TRIM32
Severe early-onset obesity CEP19 Ellen McDonagh classified CEP19 as red
Severe early-onset obesity CEP19 Ellen McDonagh commented on CEP19
Severe early-onset obesity MKKS Ellen McDonagh classified MKKS as green
Severe early-onset obesity MKKS Ellen McDonagh commented on MKKS
Severe early-onset obesity SIM1 Ellen McDonagh classified SIM1 as amber
Severe early-onset obesity SIM1 Ellen McDonagh commented on SIM1
Radial dysplasia LMBR1 Rebecca Foulger commented on LMBR1
Radial dysplasia PITX1 Rebecca Foulger reviewed PITX1
Radial dysplasia UBE2T Rebecca Foulger commented on UBE2T
Radial dysplasia RPS29 Rebecca Foulger commented on RPS29
Severe early-onset obesity SH2B1 Ellen McDonagh classified SH2B1 as amber
Severe early-onset obesity SH2B1 Ellen McDonagh classified SH2B1 as red
Severe early-onset obesity SH2B1 Ellen McDonagh commented on SH2B1
Pneumothorax - familial TGFBR2 Stefan Marciniak edited their review of TGFBR2
Pneumothorax - familial TGFBR1 Stefan Marciniak edited their review of TGFBR1
Pneumothorax - familial TGFB3 Stefan Marciniak edited their review of TGFB3
Pneumothorax - familial TGFB2 Stefan Marciniak edited their review of TGFB2
Pneumothorax - familial SMAD3 Stefan Marciniak edited their review of SMAD3
Pneumothorax - familial COL3A1 Stefan Marciniak edited their review of COL3A1
Pneumothorax - familial FBN1 Stefan Marciniak edited their review of FBN1
Pneumothorax - familial TSC2 Stefan Marciniak edited their review of TSC2
Pneumothorax - familial TSC1 Stefan Marciniak edited their review of TSC1
Hereditary neuropathy MME Ellen Thomas added MME to panel
Hereditary neuropathy MME Ellen Thomas reviewed MME
Deafness and congenital structural abnormalities FOXI1 Muriel Holder reviewed FOXI1
Deafness and congenital structural abnormalities RPS28 Muriel Holder reviewed RPS28
Deafness and congenital structural abnormalities WIF1 Muriel Holder reviewed WIF1
Deafness and congenital structural abnormalities TWSG1 Muriel Holder reviewed TWSG1
Deafness and congenital structural abnormalities NKX3-2 Muriel Holder reviewed NKX3-2
Deafness and congenital structural abnormalities LEMD3 Muriel Holder reviewed LEMD3
Deafness and congenital structural abnormalities KDM6A Muriel Holder reviewed KDM6A
Deafness and congenital structural abnormalities FOXI3 Muriel Holder reviewed FOXI3
Deafness and congenital structural abnormalities DWS Muriel Holder reviewed DWS
Deafness and congenital structural abnormalities BMP5 Muriel Holder reviewed BMP5
Deafness and congenital structural abnormalities GDF6 Muriel Holder reviewed GDF6
Deafness and congenital structural abnormalities HOXA2 Muriel Holder reviewed HOXA2
Deafness and congenital structural abnormalities EVC Muriel Holder reviewed EVC
Deafness and congenital structural abnormalities PORCN Muriel Holder reviewed PORCN
Deafness and congenital structural abnormalities SIX5 Muriel Holder reviewed SIX5
Deafness and congenital structural abnormalities SALL4 Muriel Holder reviewed SALL4
Deafness and congenital structural abnormalities KMT2D Muriel Holder reviewed KMT2D
Deafness and congenital structural abnormalities KMT2D Muriel Holder reviewed KMT2D
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as amber
Severe early-onset obesity MYT1L Ellen McDonagh commented on MYT1L
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as amber
Severe early-onset obesity MRAP2 Ellen McDonagh marked MRAP2 as ready
Severe early-onset obesity MRAP2 Ellen McDonagh marked MRAP2 as ready
Severe early-onset obesity MRAP2 Ellen McDonagh classified MRAP2 as red
Severe early-onset obesity MRAP2 Ellen McDonagh commented on MRAP2
Severe early-onset obesity KSR2 Ellen McDonagh classified KSR2 as red
Severe early-onset obesity KSR2 Ellen McDonagh commented on KSR2
Early onset dystonia Ellen McDonagh promoted panel to version 1
Severe early-onset obesity CPE Ellen McDonagh marked CPE as ready
Severe early-onset obesity CPE Ellen McDonagh classified CPE as red
Severe early-onset obesity CPE Ellen McDonagh commented on CPE
Deafness and congenital structural abnormalities TCOF1 Ellen McDonagh marked TCOF1 as ready
Deafness and congenital structural abnormalities SIX1 Ellen McDonagh marked SIX1 as ready
Deafness and congenital structural abnormalities SF3B4 Ellen McDonagh marked SF3B4 as ready
Deafness and congenital structural abnormalities SALL1 Ellen McDonagh marked SALL1 as ready
Deafness and congenital structural abnormalities POLR1D Ellen McDonagh marked POLR1D as ready
Deafness and congenital structural abnormalities POLR1C Ellen McDonagh marked POLR1C as ready
Deafness and congenital structural abnormalities PLCB4 Ellen McDonagh marked PLCB4 as ready
Deafness and congenital structural abnormalities ORC6 Ellen McDonagh marked ORC6 as ready
Deafness and congenital structural abnormalities ORC4 Ellen McDonagh marked ORC4 as ready
Deafness and congenital structural abnormalities ORC1 Ellen McDonagh marked ORC1 as ready
Deafness and congenital structural abnormalities HMX1 Ellen McDonagh marked HMX1 as ready
Deafness and congenital structural abnormalities GSC Ellen McDonagh marked GSC as ready
Deafness and congenital structural abnormalities GRIP1 Ellen McDonagh marked GRIP1 as ready
Deafness and congenital structural abnormalities GNAI3 Ellen McDonagh marked GNAI3 as ready
Deafness and congenital structural abnormalities FGFR2 Ellen McDonagh marked FGFR2 as ready
Deafness and congenital structural abnormalities FGF3 Ellen McDonagh marked FGF3 as ready
Deafness and congenital structural abnormalities WIF1 Ellen McDonagh marked WIF1 as ready
Deafness and congenital structural abnormalities TWSG1 Ellen McDonagh marked TWSG1 as ready
Deafness and congenital structural abnormalities TFAP2A Ellen McDonagh marked TFAP2A as ready
Deafness and congenital structural abnormalities TFAP2A Ellen McDonagh classified TFAP2A as green
Deafness and congenital structural abnormalities SIX5 Ellen McDonagh classified SIX5 as amber
Deafness and congenital structural abnormalities PORCN Ellen McDonagh marked PORCN as ready
Deafness and congenital structural abnormalities OTX2 Ellen McDonagh marked OTX2 as ready
Deafness and congenital structural abnormalities OTX2 Ellen McDonagh classified OTX2 as green
Deafness and congenital structural abnormalities NKX3-2 Ellen McDonagh marked NKX3-2 as ready
Deafness and congenital structural abnormalities NKX3-2 Ellen McDonagh classified NKX3-2 as red
Deafness and congenital structural abnormalities LEMD3 Ellen McDonagh marked LEMD3 as ready
Deafness and congenital structural abnormalities LEMD3 Ellen McDonagh classified LEMD3 as red
Deafness and congenital structural abnormalities KMT2D Ellen McDonagh classified KMT2D as amber
Deafness and congenital structural abnormalities HOXA2 Ellen McDonagh classified HOXA2 as amber
Deafness and congenital structural abnormalities GDF6 Ellen McDonagh classified GDF6 as amber
Deafness and congenital structural abnormalities BMP5 Ellen McDonagh marked BMP5 as ready
Deafness and congenital structural abnormalities BMP5 Ellen McDonagh classified BMP5 as red
Deafness and congenital structural abnormalities BMP4 Ellen McDonagh classified BMP4 as green
Deafness and congenital structural abnormalities SOX10 Ellen McDonagh classified SOX10 as green
Deafness and congenital structural abnormalities SOX10 Ellen McDonagh commented on SOX10
Deafness and congenital structural abnormalities SLC26A4 Ellen McDonagh classified SLC26A4 as green
Deafness and congenital structural abnormalities SLC26A4 Ellen McDonagh commented on SLC26A4
Deafness and congenital structural abnormalities SALL4 Ellen McDonagh classified SALL4 as amber
Deafness and congenital structural abnormalities SALL4 Ellen McDonagh commented on SALL4
Deafness and congenital structural abnormalities RPS28 Ellen McDonagh marked RPS28 as ready
Deafness and congenital structural abnormalities RPS28 Ellen McDonagh classified RPS28 as amber
Deafness and congenital structural abnormalities POLR1A Ellen McDonagh marked POLR1A as ready
Deafness and congenital structural abnormalities POLR1A Ellen McDonagh classified POLR1A as green
Deafness and congenital structural abnormalities OFD1 Ellen McDonagh classified OFD1 as green
Deafness and congenital structural abnormalities OFD1 Ellen McDonagh commented on OFD1
Deafness and congenital structural abnormalities FOXI1 Ellen McDonagh classified FOXI1 as red
Deafness and congenital structural abnormalities EIF4A3 Ellen McDonagh marked EIF4A3 as ready
Deafness and congenital structural abnormalities EIF4A3 Ellen McDonagh classified EIF4A3 as green
Deafness and congenital structural abnormalities EIF4A3 Ellen McDonagh classified EIF4A3 as red
Deafness and congenital structural abnormalities FGF10 Ellen McDonagh marked FGF10 as ready
Deafness and congenital structural abnormalities EYA1 Ellen McDonagh marked EYA1 as ready
Deafness and congenital structural abnormalities EYA1 Ellen McDonagh classified EYA1 as green
Deafness and congenital structural abnormalities EFTUD2 Ellen McDonagh classified EFTUD2 as green
Deafness and congenital structural abnormalities EFTUD2 Ellen McDonagh marked EFTUD2 as ready
Deafness and congenital structural abnormalities EDNRA Ellen McDonagh classified EDNRA as green
Deafness and congenital structural abnormalities DHODH Ellen McDonagh marked DHODH as ready
Deafness and congenital structural abnormalities DHODH Ellen McDonagh classified DHODH as green
Deafness and congenital structural abnormalities CHD7 Ellen McDonagh marked CHD7 as ready
Deafness and congenital structural abnormalities CHD7 Ellen McDonagh classified CHD7 as green
Deafness and congenital structural abnormalities CDT1 Ellen McDonagh marked CDT1 as ready
Deafness and congenital structural abnormalities CDT1 Ellen McDonagh classified CDT1 as green
Deafness and congenital structural abnormalities CDC6 Ellen McDonagh marked CDC6 as ready
Deafness and congenital structural abnormalities CDC6 Ellen McDonagh classified CDC6 as green
Deafness and congenital structural abnormalities EDNRA Ellen McDonagh marked EDNRA as ready
Deafness and congenital structural abnormalities EDNRA Ellen McDonagh classified EDNRA as green
Infantile enterocolitis & monogenic inflammatory bowel disease Ellen McDonagh promoted panel to version 1
Deafness and congenital structural abnormalities FREM2 Ellen McDonagh marked FREM2 as ready
Deafness and congenital structural abnormalities FREM2 Ellen McDonagh classified FREM2 as green
Deafness and congenital structural abnormalities FRAS1 Ellen McDonagh marked FRAS1 as ready
Deafness and congenital structural abnormalities FRAS1 Ellen McDonagh classified FRAS1 as green
Deafness and congenital structural abnormalities FRAS1 Ellen McDonagh classified FRAS1 as green
Hypogonadotropic hypogonadism DCAF17 Sarah Leigh marked DCAF17 as ready
Hypogonadotropic hypogonadism DCAF17 Sarah Leigh commented on DCAF17
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR2 Ellen McDonagh marked TGFBR2 as ready
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR2 Ellen McDonagh classified TGFBR2 as green
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR1 Ellen McDonagh marked TGFBR1 as ready
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR1 Ellen McDonagh classified TGFBR1 as green
Hypogonadotropic hypogonadism SOX2 Sarah Leigh classified SOX2 as green
Intellectual disability SYNE1 Richard Scott classified SYNE1 as red
Intellectual disability SYNE1 Richard Scott classified SYNE1 as red
Intellectual disability SYNE1 Richard Scott classified SYNE1 as red
Intellectual disability SYNE1 Richard Scott classified SYNE1 as red
Intellectual disability SYNE1 Richard Scott commented on SYNE1
Hypogonadotropic hypogonadism SLC29A3 Sarah Leigh classified SLC29A3 as green
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR2 Richard Scott classified TGFBR2 as red
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR2 Richard Scott commented on TGFBR2
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR1 Richard Scott classified TGFBR1 as red
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR1 Richard Scott commented on TGFBR1
Infantile enterocolitis & monogenic inflammatory bowel disease STAT1 Richard Scott classified STAT1 as green
Infantile enterocolitis & monogenic inflammatory bowel disease STAT1 Richard Scott commented on STAT1
Infantile enterocolitis & monogenic inflammatory bowel disease RTEL1 Richard Scott commented on RTEL1
Infantile enterocolitis & monogenic inflammatory bowel disease RTEL1 Richard Scott classified RTEL1 as green
Infantile enterocolitis & monogenic inflammatory bowel disease RAG1 Richard Scott classified RAG1 as green
Infantile enterocolitis & monogenic inflammatory bowel disease RAG1 Richard Scott commented on RAG1
Infantile enterocolitis & monogenic inflammatory bowel disease G6PC3 Richard Scott classified G6PC3 as green
Infantile enterocolitis & monogenic inflammatory bowel disease G6PC3 Richard Scott commented on G6PC3
Gastrointestinal neuromuscular disorders TTC7A Ellen McDonagh classified TTC7A as red
Gastrointestinal neuromuscular disorders TTC7A Ellen McDonagh commented on TTC7A
Gastrointestinal neuromuscular disorders PTRF Ellen McDonagh classified PTRF as red
Gastrointestinal neuromuscular disorders PTRF Ellen McDonagh commented on PTRF
Gastrointestinal neuromuscular disorders COG7 Ellen McDonagh classified COG7 as red
Gastrointestinal neuromuscular disorders COG7 Ellen McDonagh commented on COG7
Infantile enterocolitis & monogenic inflammatory bowel disease NCF4 Ellen McDonagh classified NCF4 as red
Infantile enterocolitis & monogenic inflammatory bowel disease NCF4 Ellen McDonagh classified NCF4 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease NCF4 Ellen McDonagh commented on NCF4
Hypogonadotropic hypogonadism FLRT3 Sarah Leigh marked FLRT3 as ready
Infantile enterocolitis & monogenic inflammatory bowel disease NCF4 Ellen McDonagh classified NCF4 as amber
Hypogonadotropic hypogonadism SEMA3E Sarah Leigh classified SEMA3E as red
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR2 Ellen McDonagh classified TGFBR2 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR2 Ellen McDonagh commented on TGFBR2
Hypogonadotropic hypogonadism LHX4 Sarah Leigh classified LHX4 as green
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR1 Ellen McDonagh classified TGFBR1 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR1 Ellen McDonagh commented on TGFBR1
Infantile enterocolitis & monogenic inflammatory bowel disease STAT3 Ellen McDonagh marked STAT3 as ready
Infantile enterocolitis & monogenic inflammatory bowel disease STAT3 Ellen McDonagh classified STAT3 as green
Infantile enterocolitis & monogenic inflammatory bowel disease STAT1 Ellen McDonagh classified STAT1 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease STAT1 Ellen McDonagh commented on STAT1
Infantile enterocolitis & monogenic inflammatory bowel disease RTEL1 Ellen McDonagh classified RTEL1 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease RTEL1 Ellen McDonagh commented on RTEL1
Congenital hypothyroidism FOXE1 Olivia Niblock reviewed FOXE1
Congenital hypothyroidism THRA Olivia Niblock added THRA to panel
Congenital hypothyroidism THRA Olivia Niblock reviewed THRA
Congenital hypothyroidism TG Olivia Niblock added TG to panel
Congenital hypothyroidism TG Olivia Niblock reviewed TG
Congenital hypothyroidism NKX2-1 Olivia Niblock added NKX2-1 to panel
Congenital hypothyroidism NKX2-1 Olivia Niblock reviewed NKX2-1
Infantile enterocolitis & monogenic inflammatory bowel disease RIPK2 Ellen McDonagh classified RIPK2 as red
Infantile enterocolitis & monogenic inflammatory bowel disease RIPK2 Ellen McDonagh commented on RIPK2
Radial dysplasia SALL4 Rebecca Foulger commented on SALL4
Radial dysplasia PTEN Rebecca Foulger commented on PTEN
Radial dysplasia RBM8A Rebecca Foulger commented on RBM8A
Infantile enterocolitis & monogenic inflammatory bowel disease RAG1 Ellen McDonagh commented on RAG1
Infantile enterocolitis & monogenic inflammatory bowel disease RAG1 Ellen McDonagh classified RAG1 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3R1 Ellen McDonagh classified PIK3R1 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3R1 Ellen McDonagh commented on PIK3R1
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3CD Ellen McDonagh marked PIK3CD as ready
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3CD Ellen McDonagh classified PIK3CD as green
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3CD Ellen McDonagh commented on PIK3CD
Infantile enterocolitis & monogenic inflammatory bowel disease NPC1 Ellen McDonagh classified NPC1 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease NPC1 Ellen McDonagh commented on NPC1
Infantile enterocolitis & monogenic inflammatory bowel disease MASP2 Ellen McDonagh classified MASP2 as red
Hypogonadotropic hypogonadism HS6ST1 Sarah Leigh classified HS6ST1 as red
Infantile enterocolitis & monogenic inflammatory bowel disease MASP2 Ellen McDonagh classified MASP2 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease MASP2 Ellen McDonagh commented on MASP2
Infantile enterocolitis & monogenic inflammatory bowel disease IL21 Ellen McDonagh classified IL21 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease IL21 Ellen McDonagh commented on IL21
Infantile enterocolitis & monogenic inflammatory bowel disease IL10 Ellen McDonagh classified IL10 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease G6PC3 Ellen McDonagh classified G6PC3 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease G6PC3 Ellen McDonagh commented on G6PC3
Infantile enterocolitis & monogenic inflammatory bowel disease FERMT1 Ellen McDonagh classified FERMT1 as green
Infantile enterocolitis & monogenic inflammatory bowel disease FERMT1 Ellen McDonagh classified FERMT1 as red
Infantile enterocolitis & monogenic inflammatory bowel disease FERMT1 Ellen McDonagh commented on FERMT1
Infantile enterocolitis & monogenic inflammatory bowel disease EPCAM Ellen McDonagh marked EPCAM as ready
Infantile enterocolitis & monogenic inflammatory bowel disease EPCAM Ellen McDonagh classified EPCAM as green
Infantile enterocolitis & monogenic inflammatory bowel disease EPCAM Ellen McDonagh commented on EPCAM
Infantile enterocolitis & monogenic inflammatory bowel disease DKC1 Ellen McDonagh classified DKC1 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease DKC1 Ellen McDonagh commented on DKC1
Infantile enterocolitis & monogenic inflammatory bowel disease CTLA4 Ellen McDonagh classified CTLA4 as green
Infantile enterocolitis & monogenic inflammatory bowel disease CTLA4 Ellen McDonagh classified CTLA4 as red
Infantile enterocolitis & monogenic inflammatory bowel disease CTLA4 Ellen McDonagh commented on CTLA4
Infantile enterocolitis & monogenic inflammatory bowel disease COL7A1 Ellen McDonagh classified COL7A1 as green
Infantile enterocolitis & monogenic inflammatory bowel disease COL7A1 Ellen McDonagh commented on COL7A1
Hypogonadotropic hypogonadism IL17RD Sarah Leigh classified IL17RD as green
Epidermolysis bullosa COL7A1 Ellen McDonagh marked COL7A1 as ready
Epidermolysis bullosa COL7A1 Ellen McDonagh classified COL7A1 as green
Epidermolysis bullosa COL7A1 Ellen McDonagh commented on COL7A1
Infantile enterocolitis & monogenic inflammatory bowel disease PLCG2 Ellen McDonagh classified PLCG2 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease PLCG2 Ellen McDonagh commented on PLCG2
Infantile enterocolitis & monogenic inflammatory bowel disease NCF1 Ellen McDonagh marked NCF1 as ready
Infantile enterocolitis & monogenic inflammatory bowel disease NCF1 Ellen McDonagh classified NCF1 as green
Infantile enterocolitis & monogenic inflammatory bowel disease NCF1 Ellen McDonagh commented on NCF1
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Ellen McDonagh classified IKBKG as green
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Ellen McDonagh commented on IKBKG
Infantile enterocolitis & monogenic inflammatory bowel disease GUCY2C Ellen McDonagh classified GUCY2C as green
Infantile enterocolitis & monogenic inflammatory bowel disease GUCY2C Ellen McDonagh commented on GUCY2C
Infantile enterocolitis & monogenic inflammatory bowel disease ADAM17 Ellen McDonagh classified ADAM17 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease ADAM17 Ellen McDonagh commented on ADAM17
Infantile enterocolitis & monogenic inflammatory bowel disease ZAP70 Ellen McDonagh classified ZAP70 as amber
Infantile enterocolitis & monogenic inflammatory bowel disease ZAP70 Ellen McDonagh classified ZAP70 as green
Infantile enterocolitis & monogenic inflammatory bowel disease ZAP70 Ellen McDonagh commented on ZAP70
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR2 Neil shah reviewed TGFBR2
Infantile enterocolitis & monogenic inflammatory bowel disease TGFBR1 Neil shah reviewed TGFBR1
Infantile enterocolitis & monogenic inflammatory bowel disease STAT3 Neil shah reviewed STAT3
Infantile enterocolitis & monogenic inflammatory bowel disease STAT1 Neil shah reviewed STAT1
Infantile enterocolitis & monogenic inflammatory bowel disease RTEL1 Neil shah reviewed RTEL1
Infantile enterocolitis & monogenic inflammatory bowel disease RIPK2 Neil shah reviewed RIPK2
Infantile enterocolitis & monogenic inflammatory bowel disease RAG1 Neil shah reviewed RAG1
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3R1 Neil shah reviewed PIK3R1
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3CD Neil shah reviewed PIK3CD
Infantile enterocolitis & monogenic inflammatory bowel disease NPC1 Neil shah reviewed NPC1
Infantile enterocolitis & monogenic inflammatory bowel disease MASP2 Neil shah reviewed MASP2
Infantile enterocolitis & monogenic inflammatory bowel disease IL21 Neil shah reviewed IL21
Infantile enterocolitis & monogenic inflammatory bowel disease IL10 Neil shah reviewed IL10
Infantile enterocolitis & monogenic inflammatory bowel disease G6PC3 Neil shah reviewed G6PC3
Infantile enterocolitis & monogenic inflammatory bowel disease FERMT1 Neil shah reviewed FERMT1
Infantile enterocolitis & monogenic inflammatory bowel disease EPCAM Neil shah reviewed EPCAM
Infantile enterocolitis & monogenic inflammatory bowel disease DKC1 Neil shah reviewed DKC1
Infantile enterocolitis & monogenic inflammatory bowel disease CTLA4 Neil shah reviewed CTLA4
Infantile enterocolitis & monogenic inflammatory bowel disease COL7A1 Neil shah reviewed COL7A1
Infantile enterocolitis & monogenic inflammatory bowel disease PLCG2 Neil shah reviewed PLCG2
Infantile enterocolitis & monogenic inflammatory bowel disease NCF1 Neil shah reviewed NCF1
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Neil shah reviewed IKBKG
Infantile enterocolitis & monogenic inflammatory bowel disease GUCY2C Neil shah reviewed GUCY2C
Infantile enterocolitis & monogenic inflammatory bowel disease ADAM17 Neil shah reviewed ADAM17
Infantile enterocolitis & monogenic inflammatory bowel disease ZAP70 Neil shah reviewed ZAP70
Infantile enterocolitis & monogenic inflammatory bowel disease XIAP Neil shah reviewed XIAP
Infantile enterocolitis & monogenic inflammatory bowel disease WAS Neil shah reviewed WAS
Infantile enterocolitis & monogenic inflammatory bowel disease TTC7A Neil shah reviewed TTC7A
Infantile enterocolitis & monogenic inflammatory bowel disease TTC37 Neil shah reviewed TTC37
Infantile enterocolitis & monogenic inflammatory bowel disease STXBP2 Neil shah reviewed STXBP2
Infantile enterocolitis & monogenic inflammatory bowel disease SLC37A4 Neil shah reviewed SLC37A4
Infantile enterocolitis & monogenic inflammatory bowel disease SKIV2L Neil shah reviewed SKIV2L
Infantile enterocolitis & monogenic inflammatory bowel disease SH2D1A Neil shah reviewed SH2D1A
Infantile enterocolitis & monogenic inflammatory bowel disease RAG2 Neil shah reviewed RAG2
Infantile enterocolitis & monogenic inflammatory bowel disease PTEN Neil shah reviewed PTEN
Infantile enterocolitis & monogenic inflammatory bowel disease NCF4 Neil shah reviewed NCF4
Infantile enterocolitis & monogenic inflammatory bowel disease NCF2 Neil shah reviewed NCF2
Infantile enterocolitis & monogenic inflammatory bowel disease MVK Neil shah reviewed MVK
Infantile enterocolitis & monogenic inflammatory bowel disease MEFV Neil shah reviewed MEFV
Infantile enterocolitis & monogenic inflammatory bowel disease LRBA Neil shah reviewed LRBA
Infantile enterocolitis & monogenic inflammatory bowel disease LIG4 Neil shah reviewed LIG4
Infantile enterocolitis & monogenic inflammatory bowel disease ITGB2 Neil shah reviewed ITGB2
Infantile enterocolitis & monogenic inflammatory bowel disease IL2RG Neil shah reviewed IL2RG
Infantile enterocolitis & monogenic inflammatory bowel disease IL2RA Neil shah reviewed IL2RA
Infantile enterocolitis & monogenic inflammatory bowel disease IL10RB Neil shah reviewed IL10RB
Infantile enterocolitis & monogenic inflammatory bowel disease IL10RA Neil shah reviewed IL10RA
Infantile enterocolitis & monogenic inflammatory bowel disease ICOS Neil shah reviewed ICOS
Infantile enterocolitis & monogenic inflammatory bowel disease HPS6 Neil shah reviewed HPS6
Infantile enterocolitis & monogenic inflammatory bowel disease HPS4 Neil shah reviewed HPS4
Infantile enterocolitis & monogenic inflammatory bowel disease HPS1 Neil shah reviewed HPS1
Infantile enterocolitis & monogenic inflammatory bowel disease FOXP3 Neil shah reviewed FOXP3
Infantile enterocolitis & monogenic inflammatory bowel disease DOCK8 Neil shah reviewed DOCK8
Infantile enterocolitis & monogenic inflammatory bowel disease DCLRE1C Neil shah reviewed DCLRE1C
Infantile enterocolitis & monogenic inflammatory bowel disease CYBB Neil shah reviewed CYBB
Infantile enterocolitis & monogenic inflammatory bowel disease CYBA Neil shah reviewed CYBA
Infantile enterocolitis & monogenic inflammatory bowel disease CD40LG Neil shah reviewed CD40LG
Infantile enterocolitis & monogenic inflammatory bowel disease CD3G Neil shah reviewed CD3G
Infantile enterocolitis & monogenic inflammatory bowel disease BTK Neil shah reviewed BTK
Infantile enterocolitis & monogenic inflammatory bowel disease AICDA Neil shah reviewed AICDA
Infantile enterocolitis & monogenic inflammatory bowel disease ADA Neil shah reviewed ADA
Gastrointestinal neuromuscular disorders PTEN Neil shah reviewed PTEN
Gastrointestinal neuromuscular disorders SOX10 Neil shah reviewed SOX10
Gastrointestinal neuromuscular disorders SMO Neil shah reviewed SMO
Gastrointestinal neuromuscular disorders SGOL1 Neil shah reviewed SGOL1
Gastrointestinal neuromuscular disorders SCN11A Neil shah reviewed SCN11A
Gastrointestinal neuromuscular disorders MT-TK Neil shah reviewed MT-TK
Gastrointestinal neuromuscular disorders L1CAM Neil shah reviewed L1CAM
Gastrointestinal neuromuscular disorders EVC2 Neil shah reviewed EVC2
Gastrointestinal neuromuscular disorders DMD Neil shah reviewed DMD
Gastrointestinal neuromuscular disorders ACTG2 Neil shah reviewed ACTG2
Gastrointestinal neuromuscular disorders TTC7A Neil shah reviewed TTC7A
Gastrointestinal neuromuscular disorders GDNF Neil shah reviewed GDNF
Gastrointestinal neuromuscular disorders FLNA Neil shah reviewed FLNA
Gastrointestinal neuromuscular disorders TYMP Neil shah reviewed TYMP
Gastrointestinal neuromuscular disorders TMEM70 Neil shah reviewed TMEM70
Gastrointestinal neuromuscular disorders RRM2B Neil shah reviewed RRM2B
Gastrointestinal neuromuscular disorders RET Neil shah reviewed RET
Gastrointestinal neuromuscular disorders PTRF Neil shah reviewed PTRF
Gastrointestinal neuromuscular disorders POLG Neil shah reviewed POLG
Gastrointestinal neuromuscular disorders IDS Neil shah reviewed IDS
Gastrointestinal neuromuscular disorders DMPK Neil shah reviewed DMPK
Gastrointestinal neuromuscular disorders DES Neil shah reviewed DES
Gastrointestinal neuromuscular disorders COG7 Neil shah reviewed COG7
Gastrointestinal neuromuscular disorders ATRX Neil shah reviewed ATRX
Early onset dementia (encompassing fronto-temporal dementia and prion disease) DCTN1 Ellen Thomas added DCTN1 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) DCTN1 Ellen Thomas reviewed DCTN1
Mitochondrial disorders FLAD1 Ellen Thomas commented on FLAD1
Mitochondrial disorders FLAD1 Ellen Thomas classified FLAD1 as amber
Intellectual disability GNB1 Ellen Thomas classified GNB1 as amber
Intellectual disability GNB1 Ellen Thomas classified GNB1 as amber
Intellectual disability GNB1 Ellen Thomas classified GNB1 as amber
Intellectual disability GNB1 Ellen Thomas classified GNB1 as amber
Intellectual disability GNB1 Ellen Thomas classified GNB1 as amber
Intellectual disability GNB1 Ellen Thomas classified GNB1 as amber
Intellectual disability GNB1 Ellen Thomas classified GNB1 as amber
Intellectual disability GNB1 Ellen Thomas added GNB1 to panel
Intellectual disability GNB1 Ellen Thomas reviewed GNB1
Infantile enterocolitis & monogenic inflammatory bowel disease CYBA Ellen McDonagh marked CYBA as ready
Infantile enterocolitis & monogenic inflammatory bowel disease CYBA Ellen McDonagh classified CYBA as green
Infantile enterocolitis & monogenic inflammatory bowel disease CYBA Ellen McDonagh commented on CYBA
Infantile enterocolitis & monogenic inflammatory bowel disease CD40LG Ellen McDonagh marked CD40LG as ready
Infantile enterocolitis & monogenic inflammatory bowel disease CD40LG Ellen McDonagh classified CD40LG as green
Infantile enterocolitis & monogenic inflammatory bowel disease CD40LG Ellen McDonagh commented on CD40LG
Infantile enterocolitis & monogenic inflammatory bowel disease CD3G Ellen McDonagh marked CD3G as ready
Infantile enterocolitis & monogenic inflammatory bowel disease CD3G Ellen McDonagh classified CD3G as green
Infantile enterocolitis & monogenic inflammatory bowel disease CD3G Ellen McDonagh commented on CD3G
Infantile enterocolitis & monogenic inflammatory bowel disease BTK Ellen McDonagh marked BTK as ready
Infantile enterocolitis & monogenic inflammatory bowel disease BTK Ellen McDonagh classified BTK as green
Infantile enterocolitis & monogenic inflammatory bowel disease BTK Ellen McDonagh commented on BTK
Infantile enterocolitis & monogenic inflammatory bowel disease AICDA Ellen McDonagh marked AICDA as ready
Infantile enterocolitis & monogenic inflammatory bowel disease AICDA Ellen McDonagh classified AICDA as green
Infantile enterocolitis & monogenic inflammatory bowel disease AICDA Ellen McDonagh commented on AICDA
Infantile enterocolitis & monogenic inflammatory bowel disease ADA Ellen McDonagh marked ADA as ready
Infantile enterocolitis & monogenic inflammatory bowel disease ADA Ellen McDonagh classified ADA as green
Infantile enterocolitis & monogenic inflammatory bowel disease ADA Ellen McDonagh commented on ADA
Fetal hydrops DMPK Rebecca Foulger reviewed DMPK
Familial prostate cancer MSH2 Clare Turnbull reviewed MSH2
Familial prostate cancer BRCA2 Clare Turnbull reviewed BRCA2
Familial prostate cancer BRCA1 Clare Turnbull reviewed BRCA1
Fetal hydrops PMM2 Rebecca Foulger commented on PMM2
Fetal hydrops PIEZO1 Rebecca Foulger commented on PIEZO1
Fetal hydrops LBR Rebecca Foulger commented on LBR
Fetal hydrops LARS2 Rebecca Foulger commented on LARS2
Fetal hydrops HBZ Rebecca Foulger commented on HBZ
Fetal hydrops GUSB Rebecca Foulger commented on GUSB
Fetal hydrops GLE1 Rebecca Foulger commented on GLE1
Fetal hydrops GBE1 Rebecca Foulger commented on GBE1
Fetal hydrops CBL Rebecca Foulger commented on CBL
Peroxisomal disorders FAR1 Ellen McDonagh marked FAR1 as ready
Peroxisomal disorders FAR1 Ellen McDonagh classified FAR1 as green
Peroxisomal disorders FAR1 Ellen McDonagh commented on FAR1
Inherited white matter disorders Ellen McDonagh promoted panel to version 1
Juvenile dermatomyositis Ellen McDonagh promoted panel to version 1
Mitochondrial disorders COQ9 Ellen McDonagh edited their review of COQ9
Mitochondrial disorders ATPAF2 Ellen McDonagh edited their review of ATPAF2
Inherited white matter disorders ISCA2 Ellen McDonagh added ISCA2 to panel
Inherited white matter disorders ISCA2 Ellen McDonagh reviewed ISCA2
Mitochondrial disorders MTFMT Ellen McDonagh edited their review of MTFMT
Mitochondrial disorders MTFMT Ellen McDonagh reviewed MTFMT
Inherited white matter disorders MTFMT Ellen McDonagh classified MTFMT as green
Inherited white matter disorders MTFMT Ellen McDonagh added MTFMT to panel
Inherited white matter disorders MTFMT Ellen McDonagh reviewed MTFMT
Mitochondrial disorders LYRM7 Ellen McDonagh reviewed LYRM7
Inherited white matter disorders LYRM7 Ellen McDonagh classified LYRM7 as green
Inherited white matter disorders LYRM7 Ellen McDonagh added LYRM7 to panel
Inherited white matter disorders LYRM7 Ellen McDonagh reviewed LYRM7
Inherited white matter disorders TUFM Ellen Thomas classified TUFM as amber
Inherited white matter disorders TUFM Ellen Thomas commented on TUFM
Inherited white matter disorders TUBA1A Ellen Thomas classified TUBA1A as red
Inherited white matter disorders TUBA1A Ellen Thomas commented on TUBA1A
Inherited white matter disorders TACO1 Ellen Thomas marked TACO1 as ready
Inherited white matter disorders TACO1 Ellen Thomas classified TACO1 as green
Inherited white matter disorders SLC25A4 Ellen Thomas marked SLC25A4 as ready
Inherited white matter disorders SLC25A4 Ellen Thomas classified SLC25A4 as green
Inherited white matter disorders SLC25A4 Ellen Thomas commented on SLC25A4
Inherited white matter disorders RELN Ellen Thomas marked RELN as ready
Inherited white matter disorders RELN Ellen Thomas classified RELN as red
Inherited white matter disorders RELN Ellen Thomas commented on RELN
Inherited white matter disorders RARS Ellen Thomas marked RARS as ready
Inherited white matter disorders RARS Ellen Thomas classified RARS as green
Inherited white matter disorders PEX19 Ellen Thomas classified PEX19 as amber
Inherited white matter disorders PEX19 Ellen Thomas commented on PEX19
Inherited white matter disorders PEX14 Ellen Thomas classified PEX14 as amber
Inherited white matter disorders PEX14 Ellen Thomas commented on PEX14
Inherited white matter disorders PAFAH1B1 Ellen Thomas marked PAFAH1B1 as ready
Inherited white matter disorders PAFAH1B1 Ellen Thomas classified PAFAH1B1 as green
Inherited white matter disorders PAFAH1B1 Ellen Thomas commented on PAFAH1B1
Inherited white matter disorders NUBPL Ellen Thomas marked NUBPL as ready
Inherited white matter disorders NUBPL Ellen Thomas classified NUBPL as green
Inherited white matter disorders NDE1 Ellen Thomas marked NDE1 as ready
Inherited white matter disorders NDE1 Ellen Thomas classified NDE1 as red
Inherited white matter disorders NDE1 Ellen Thomas commented on NDE1
Inherited white matter disorders MRPS16 Ellen Thomas marked MRPS16 as ready
Inherited white matter disorders MRPS16 Ellen Thomas classified MRPS16 as amber
Inherited white matter disorders MRPS16 Ellen Thomas commented on MRPS16
Inherited white matter disorders MPZ Ellen Thomas marked MPZ as ready
Inherited white matter disorders MPZ Ellen Thomas classified MPZ as red
Inherited white matter disorders MPZ Ellen Thomas commented on MPZ
Inherited white matter disorders MPLKIP Ellen Thomas marked MPLKIP as ready
Inherited white matter disorders MPLKIP Ellen Thomas classified MPLKIP as green
Inherited white matter disorders MEF2C Ellen Thomas marked MEF2C as ready
Inherited white matter disorders MEF2C Ellen Thomas classified MEF2C as green
Inherited white matter disorders L2HGDH Ellen Thomas marked L2HGDH as ready
Inherited white matter disorders L2HGDH Ellen Thomas classified L2HGDH as green
Inherited white matter disorders FLVCR2 Ellen Thomas marked FLVCR2 as ready
Inherited white matter disorders FLVCR2 Ellen Thomas classified FLVCR2 as green
Inherited white matter disorders DCX Ellen Thomas marked DCX as ready
Inherited white matter disorders DCX Ellen Thomas classified DCX as red
Inherited white matter disorders DCX Ellen Thomas commented on DCX
Inherited white matter disorders D2HGDH Ellen Thomas marked D2HGDH as ready
Inherited white matter disorders D2HGDH Ellen Thomas classified D2HGDH as green
Inherited white matter disorders COQ9 Ellen Thomas marked COQ9 as ready
Inherited white matter disorders COQ9 Ellen Thomas classified COQ9 as amber
Inherited white matter disorders COQ9 Ellen Thomas commented on COQ9
Inherited white matter disorders BCAP31 Ellen Thomas marked BCAP31 as ready
Inherited white matter disorders BCAP31 Ellen Thomas classified BCAP31 as green
Inherited white matter disorders ATPAF2 Ellen Thomas marked ATPAF2 as ready
Inherited white matter disorders ATPAF2 Ellen Thomas classified ATPAF2 as amber
Inherited white matter disorders ATPAF2 Ellen Thomas commented on ATPAF2
Inherited white matter disorders ARX Ellen Thomas marked ARX as ready
Inherited white matter disorders ARX Ellen Thomas classified ARX as red
Inherited white matter disorders ARX Ellen Thomas commented on ARX
Inherited white matter disorders AIMP1 Ellen Thomas marked AIMP1 as ready
Inherited white matter disorders AIMP1 Ellen Thomas classified AIMP1 as green
Inherited white matter disorders GJA1 Ellen Thomas marked GJA1 as ready
Inherited white matter disorders GJA1 Ellen Thomas classified GJA1 as green
Inherited white matter disorders GJA1 Ellen Thomas commented on GJA1
Peroxisomal disorders FAR1 Sarah Leigh commented on FAR1
Deafness and congenital structural abnormalities Sarah Leigh approved panel
Neurofibromatosis Type 1 NF1 Ellen McDonagh commented on NF1
Neurofibromatosis Type 1 NF1 Ellen McDonagh added NF1 to panel
Neurofibromatosis Type 1 NF1 Ellen McDonagh reviewed NF1
Malformations of cortical development TUBA1A Ian Berry reviewed TUBA1A
Malformations of cortical development NDE1 Ian Berry reviewed NDE1
Malformations of cortical development FLNA Ian Berry reviewed FLNA
Malformations of cortical development DCX Ian Berry reviewed DCX
Malformations of cortical development ARX Ian Berry reviewed ARX
Malformations of cortical development ADGRG1 Ian Berry reviewed ADGRG1
Primary lymphoedema Ellen McDonagh approved panel
Peroxisomal disorders Sarah Leigh promoted panel to version 1
Peroxisomal disorders Sarah Leigh approved panel
Peroxisomal disorders Sarah Leigh rejected panel
Intellectual disability ZSWIM6 Ellen Thomas added ZSWIM6 to panel
Intellectual disability ZSWIM6 Ellen Thomas reviewed ZSWIM6
Familial Neural Tube Defects Ellen McDonagh approved panel
Severe hypertriglyceridaemia LMF1 Ellen McDonagh added LMF1 to panel
Severe hypertriglyceridaemia LMF1 Ellen McDonagh reviewed LMF1
Severe hypertriglyceridaemia GPIHBP1 Ellen McDonagh added GPIHBP1 to panel
Severe hypertriglyceridaemia GPIHBP1 Ellen McDonagh reviewed GPIHBP1
Severe hypertriglyceridaemia APOC2 Ellen McDonagh added APOC2 to panel
Severe hypertriglyceridaemia APOC2 Ellen McDonagh reviewed APOC2
Severe hypertriglyceridaemia APOA5 Ellen McDonagh added APOA5 to panel
Severe hypertriglyceridaemia APOA5 Ellen McDonagh reviewed APOA5
Severe hypertriglyceridaemia LPL Ellen McDonagh added LPL to panel
Severe hypertriglyceridaemia LPL Ellen McDonagh reviewed LPL
Severe hypertriglyceridaemia Ellen McDonagh approved panel
Familial Neural Tube Defects MTHFD1 Olivia Niblock added MTHFD1 to panel
Familial Neural Tube Defects MTHFD1 Olivia Niblock reviewed MTHFD1
Differences in sex development TAF4B Sarah Leigh reviewed TAF4B
Differences in sex development SOX10 Sarah Leigh edited their review of SOX10
Differences in sex development SOX10 Sarah Leigh commented on SOX10
Differences in sex development SEMA3E Sarah Leigh commented on SEMA3E
Differences in sex development INPP5E Sarah Leigh edited their review of INPP5E
Differences in sex development INPP5E Sarah Leigh commented on INPP5E
Differences in sex development GLI2 Sarah Leigh commented on GLI2
Differences in sex development RSPO1 Sarah Leigh classified RSPO1 as green
Differences in sex development NR0B1 Sarah Leigh commented on NR0B1
Choanal atresia SALL4 Sarah Leigh classified SALL4 as red
Choanal atresia SALL4 Sarah Leigh added SALL4 to panel
Choanal atresia SALL4 Sarah Leigh reviewed SALL4
Ocular and oculo-cutaneous albinism GNAI3 Sarah Leigh added GNAI3 to panel
Ocular and oculo-cutaneous albinism GNAI3 Sarah Leigh reviewed GNAI3
Gastrointestinal neuromuscular disorders EVC2 Sarah Leigh added EVC2 to panel
Gastrointestinal neuromuscular disorders EVC2 Sarah Leigh reviewed EVC2
Differences in sex development PAX6 Sarah Leigh marked PAX6 as ready
Differences in sex development PAX6 Sarah Leigh classified PAX6 as red
Differences in sex development PAX6 Sarah Leigh commented on PAX6
Differences in sex development CDKN1C Sarah Leigh marked CDKN1C as ready
Differences in sex development CDKN1C Sarah Leigh commented on CDKN1C
Differences in sex development ARX Sarah Leigh marked ARX as ready
Differences in sex development ARX Sarah Leigh commented on ARX
Differences in sex development CYB5A Sarah Leigh marked CYB5A as ready
Differences in sex development CYB5A Sarah Leigh commented on CYB5A
Differences in sex development CYB5A Sarah Leigh classified CYB5A as green
Differences in sex development AKR1C2 Sarah Leigh marked AKR1C2 as ready
Differences in sex development AKR1C2 Sarah Leigh commented on AKR1C2
Differences in sex development SRD5A2 Sarah Leigh marked SRD5A2 as ready
Differences in sex development SRD5A2 Sarah Leigh classified SRD5A2 as green
Differences in sex development SRD5A2 Sarah Leigh commented on SRD5A2
Differences in sex development RSPO1 Sarah Leigh marked RSPO1 as ready
Differences in sex development RSPO1 Sarah Leigh commented on RSPO1
Differences in sex development MAMLD1 Sarah Leigh classified MAMLD1 as green
Differences in sex development MAMLD1 Sarah Leigh marked MAMLD1 as ready
Differences in sex development MAMLD1 Sarah Leigh commented on MAMLD1
Differences in sex development GATA4 Sarah Leigh classified GATA4 as red
Differences in sex development GATA4 Sarah Leigh marked GATA4 as ready
Optic neuropathy Ellen McDonagh promoted panel to version 1
Optic neuropathy Ellen McDonagh approved panel
Differences in sex development DHH Sarah Leigh marked DHH as ready
Differences in sex development DHH Sarah Leigh commented on DHH
Differences in sex development CYP21A2 Sarah Leigh marked CYP21A2 as ready
Differences in sex development CYP21A2 Sarah Leigh commented on CYP21A2
Ocular and oculo-cutaneous albinism Ellen McDonagh promoted panel to version 1
Differences in sex development CBX2 Sarah Leigh marked CBX2 as ready
Differences in sex development CBX2 Sarah Leigh commented on CBX2
Differences in sex development CBX2 Sarah Leigh classified CBX2 as red
Differences in sex development ATP6V0A4 Sarah Leigh marked ATP6V0A4 as ready
Differences in sex development ATP6V0A4 Sarah Leigh classified ATP6V0A4 as red
Differences in sex development ATP6V0A4 Sarah Leigh commented on ATP6V0A4
Differences in sex development AR Sarah Leigh marked AR as ready
Differences in sex development AR Sarah Leigh classified AR as green
Differences in sex development AR Sarah Leigh commented on AR
Differences in sex development STAR Sarah Leigh marked STAR as ready
Differences in sex development STAR Sarah Leigh commented on STAR
Ocular and oculo-cutaneous albinism MITF Ellen Thomas marked MITF as ready
Ocular and oculo-cutaneous albinism MITF Ellen Thomas classified MITF as red
Ocular and oculo-cutaneous albinism MITF Ellen Thomas commented on MITF
Ocular and oculo-cutaneous albinism MITF Ellen Thomas classified MITF as amber
Differences in sex development WT1 Sarah Leigh marked WT1 as ready
Differences in sex development WT1 Sarah Leigh commented on WT1
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh marked C10orf11 as ready
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh classified C10orf11 as green
Differences in sex development SRY Sarah Leigh marked SRY as ready
Differences in sex development SRY Sarah Leigh commented on SRY
Differences in sex development SOX9 Sarah Leigh marked SOX9 as ready
Differences in sex development SOX9 Sarah Leigh commented on SOX9
Differences in sex development POR Sarah Leigh marked POR as ready
Differences in sex development POR Sarah Leigh commented on POR
Differences in sex development NR5A1 Sarah Leigh marked NR5A1 as ready
Differences in sex development NR5A1 Sarah Leigh commented on NR5A1
Differences in sex development LHCGR Sarah Leigh marked LHCGR as ready
Differences in sex development LHCGR Sarah Leigh commented on LHCGR
Clefting FSHMD1A Ellen McDonagh commented on FSHMD1A
Clefting FSHMD1A Ellen McDonagh classified FSHMD1A as grey
Differences in sex development HSD3B2 Sarah Leigh marked HSD3B2 as ready
Differences in sex development HSD3B2 Sarah Leigh commented on HSD3B2
Clefting SOX9 Ellen McDonagh added SOX9 to panel
Clefting SOX9 Ellen McDonagh reviewed SOX9
Differences in sex development HSD17B3 Sarah Leigh marked HSD17B3 as ready
Differences in sex development HSD17B3 Sarah Leigh commented on HSD17B3
Differences in sex development DHCR7 Sarah Leigh marked DHCR7 as ready
Differences in sex development DHCR7 Sarah Leigh commented on DHCR7
Differences in sex development CYP19A1 Sarah Leigh marked CYP19A1 as ready
Differences in sex development CYP19A1 Sarah Leigh commented on CYP19A1
Differences in sex development CYP17A1 Sarah Leigh marked CYP17A1 as ready
Differences in sex development CYP17A1 Sarah Leigh commented on CYP17A1
Differences in sex development CYP11B1 Sarah Leigh marked CYP11B1 as ready
Differences in sex development CYP11B1 Sarah Leigh commented on CYP11B1
Optic neuropathy WFS1 Ellen Thomas marked WFS1 as ready
Optic neuropathy WFS1 Ellen Thomas classified WFS1 as green
Optic neuropathy WFS1 Ellen Thomas commented on WFS1
Optic neuropathy TIMM8A Ellen Thomas marked TIMM8A as ready
Optic neuropathy TIMM8A Ellen Thomas classified TIMM8A as red
Optic neuropathy TIMM8A Ellen Thomas commented on TIMM8A
Optic neuropathy SPG7 Ellen Thomas marked SPG7 as ready
Optic neuropathy SPG7 Ellen Thomas classified SPG7 as red
Optic neuropathy SPG7 Ellen Thomas commented on SPG7
Optic neuropathy RTN4IP1 Ellen Thomas marked RTN4IP1 as ready
Optic neuropathy RTN4IP1 Ellen Thomas classified RTN4IP1 as green
Optic neuropathy RTN4IP1 Ellen Thomas commented on RTN4IP1
Optic neuropathy NR2F1 Ellen Thomas marked NR2F1 as ready
Optic neuropathy NR2F1 Ellen Thomas classified NR2F1 as green
Optic neuropathy NR2F1 Ellen Thomas commented on NR2F1
Optic neuropathy MT-ND6 Ellen Thomas marked MT-ND6 as ready
Optic neuropathy MT-ND6 Ellen Thomas classified MT-ND6 as green
Optic neuropathy MT-ND6 Ellen Thomas commented on MT-ND6
Optic neuropathy MT-ND4 Ellen Thomas marked MT-ND4 as ready
Optic neuropathy MT-ND4 Ellen Thomas classified MT-ND4 as green
Optic neuropathy MT-ND4 Ellen Thomas commented on MT-ND4
Optic neuropathy MFN2 Ellen Thomas marked MFN2 as ready
Optic neuropathy MFN2 Ellen Thomas classified MFN2 as green
Optic neuropathy MFN2 Ellen Thomas commented on MFN2
Congenital adrenal hypoplasia TXNRD2 Ellen Thomas marked TXNRD2 as ready
Congenital adrenal hypoplasia TXNRD2 Ellen Thomas classified TXNRD2 as red
Congenital adrenal hypoplasia TXNRD2 Ellen Thomas commented on TXNRD2
Congenital adrenal hypoplasia AAAS Ellen Thomas marked AAAS as ready
Congenital adrenal hypoplasia AAAS Ellen Thomas classified AAAS as green
Congenital adrenal hypoplasia AAAS Ellen Thomas commented on AAAS
Congenital adrenal hypoplasia STAR Ellen Thomas marked STAR as ready
Congenital adrenal hypoplasia STAR Ellen Thomas classified STAR as green
Congenital adrenal hypoplasia STAR Ellen Thomas commented on STAR
Congenital adrenal hypoplasia NR5A1 Ellen Thomas marked NR5A1 as ready
Congenital adrenal hypoplasia NR5A1 Ellen Thomas classified NR5A1 as green
Congenital adrenal hypoplasia NR5A1 Ellen Thomas commented on NR5A1
Congenital adrenal hypoplasia NNT Ellen Thomas marked NNT as ready
Severe early-onset obesity WDPCP Ayesha Ahmed classified WDPCP as red
Severe early-onset obesity TUB Ayesha Ahmed marked TUB as ready
Severe early-onset obesity TUB Ayesha Ahmed classified TUB as red
Severe early-onset obesity CEP19 Ayesha Ahmed classified CEP19 as amber
Severe early-onset obesity PCSK1 Ayesha Ahmed classified PCSK1 as green
Severe early-onset obesity LEPR Ayesha Ahmed classified LEPR as green
Intracerebral calcification disorders PDGFRB Ellen McDonagh classified PDGFRB as amber
Intracerebral calcification disorders PDGFRB Ellen McDonagh commented on PDGFRB
Intracerebral calcification disorders SAMHD1 Ellen McDonagh marked SAMHD1 as ready
Intracerebral calcification disorders SAMHD1 Ellen McDonagh classified SAMHD1 as green
Intracerebral calcification disorders RNASEH2C Ellen McDonagh marked RNASEH2C as ready
Intracerebral calcification disorders RNASEH2C Ellen McDonagh classified RNASEH2C as green
Intracerebral calcification disorders RNASEH2B Ellen McDonagh marked RNASEH2B as ready
Intracerebral calcification disorders RNASEH2B Ellen McDonagh classified RNASEH2B as green
Intracerebral calcification disorders RNASEH2A Ellen McDonagh marked RNASEH2A as ready
Intracerebral calcification disorders RNASEH2A Ellen McDonagh classified RNASEH2A as green
Amyotrophic lateral sclerosis/motor neuron disease TARDBP Ellen McDonagh classified TARDBP as amber
Amyotrophic lateral sclerosis/motor neuron disease SETX Ellen McDonagh edited their review of SETX
Amyotrophic lateral sclerosis/motor neuron disease DCTN1 Ellen McDonagh marked DCTN1 as ready
Amyotrophic lateral sclerosis/motor neuron disease DCTN1 Ellen McDonagh marked DCTN1 as ready
Severe early-onset obesity WDPCP Ayesha Ahmed marked WDPCP as ready
Severe early-onset obesity WDPCP Ayesha Ahmed classified WDPCP as amber
Severe early-onset obesity WDPCP Ayesha Ahmed commented on WDPCP
Severe early-onset obesity VPS13B Ayesha Ahmed marked VPS13B as ready
Severe early-onset obesity VPS13B Ayesha Ahmed classified VPS13B as green
Severe early-onset obesity VPS13B Ayesha Ahmed commented on VPS13B
Pneumothorax - familial FLCN Ellen McDonagh classified FLCN as green
Pneumothorax - familial EFEMP2 Ellen McDonagh commented on EFEMP2
Pneumothorax - familial EFEMP2 Stefan Marciniak commented on EFEMP2
Pneumothorax - familial SERPINA1 Stefan Marciniak reviewed SERPINA1
Pneumothorax - familial ATP7A Stefan Marciniak reviewed ATP7A
Pneumothorax - familial ELN Stefan Marciniak reviewed ELN
Pneumothorax - familial EFEMP2 Stefan Marciniak reviewed EFEMP2
Pneumothorax - familial ALDH18A1 Stefan Marciniak reviewed ALDH18A1
Pneumothorax - familial PYCR1 Stefan Marciniak reviewed PYCR1
Pneumothorax - familial ATP6V0A2 Stefan Marciniak reviewed ATP6V0A2
Pneumothorax - familial FBLN4 Stefan Marciniak reviewed FBLN4*
Pneumothorax - familial FBLN5 Stefan Marciniak reviewed FBLN5
Pneumothorax - familial LTBP4 Stefan Marciniak reviewed LTBP4
Pneumothorax - familial COL3A1 Stefan Marciniak reviewed COL3A1
Pneumothorax - familial MTHFR Stefan Marciniak reviewed MTHFR
Pneumothorax - familial TSC2 Stefan Marciniak reviewed TSC2
Pneumothorax - familial TSC1 Stefan Marciniak reviewed TSC1
Pneumothorax - familial FBN1 Stefan Marciniak reviewed FBN1
Pneumothorax - familial TGFB3 Stefan Marciniak reviewed TGFB3
Pneumothorax - familial TGFB2 Stefan Marciniak reviewed TGFB2
Pneumothorax - familial SMAD3 Stefan Marciniak reviewed SMAD3
Pneumothorax - familial TGFBR2 Stefan Marciniak reviewed TGFBR2
Pneumothorax - familial TGFBR1 Stefan Marciniak reviewed TGFBR1
Differences in sex development CYP11A1 Sarah Leigh marked CYP11A1 as ready
Differences in sex development CYP11A1 Sarah Leigh commented on CYP11A1
Hyperammonaemia MLYCD Sarah Leigh marked MLYCD as ready
Hyperammonaemia MLYCD Sarah Leigh commented on MLYCD
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh marked SLC24A5 as ready
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh classified SLC24A5 as green
Ocular and oculo-cutaneous albinism MITF Ellen McDonagh classified MITF as amber
Ocular and oculo-cutaneous albinism MITF Ellen McDonagh commented on MITF
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh marked LYST as ready
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as green
Optic neuropathy LYST Ellen McDonagh classified LYST as red
Optic neuropathy LYST Ellen McDonagh added LYST to panel
Optic neuropathy LYST Ellen McDonagh reviewed LYST
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as amber
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh classified C10orf11 as amber
Infantile nystagmus MT-CYB Ellen McDonagh added MT-CYB to panel
Infantile nystagmus MT-CYB Ellen McDonagh reviewed MT-CYB
Infantile nystagmus MT-CO3 Ellen McDonagh added MT-CO3 to panel
Infantile nystagmus MT-CO3 Ellen McDonagh reviewed MT-CO3
Infantile nystagmus MT-CO1 Ellen McDonagh added MT-CO1 to panel
Infantile nystagmus MT-CO1 Ellen McDonagh reviewed MT-CO1
Infantile nystagmus MT-ND6 Ellen McDonagh added MT-ND6 to panel
Infantile nystagmus MT-ND6 Ellen McDonagh reviewed MT-ND6
Infantile nystagmus MT-ATP6 Ellen McDonagh added MT-ATP6 to panel
Infantile nystagmus MT-ATP6 Ellen McDonagh reviewed MT-ATP6
Infantile nystagmus MT-ND2 Ellen McDonagh added MT-ND2 to panel
Infantile nystagmus MT-ND2 Ellen McDonagh reviewed MT-ND2
Optic neuropathy ACO2 Ellen McDonagh marked ACO2 as ready
Optic neuropathy TMEM126A Ellen McDonagh marked TMEM126A as ready
Optic neuropathy OPA8 Ellen McDonagh marked OPA8 as ready
Optic neuropathy OPA6 Ellen McDonagh marked OPA6 as ready
Optic neuropathy OPA5 Ellen McDonagh marked OPA5 as ready
Optic neuropathy OPA4 Ellen McDonagh marked OPA4 as ready
Optic neuropathy OPA2 Ellen McDonagh marked OPA2 as ready
Optic neuropathy OPA2 Ellen McDonagh commented on OPA2
Optic neuropathy OPA2 Ellen McDonagh added OPA2 to panel
Optic neuropathy OPA2 Ellen McDonagh reviewed OPA2
Optic neuropathy ACO2 Ellen McDonagh classified ACO2 as green
Optic neuropathy ACO2 Ellen McDonagh classified ACO2 as red
Optic neuropathy ACO2 Ellen McDonagh added ACO2 to panel
Optic neuropathy ACO2 Ellen McDonagh reviewed ACO2
Optic neuropathy OPA5 Ellen McDonagh added OPA5 to panel
Optic neuropathy OPA5 Ellen McDonagh reviewed OPA5
Optic neuropathy OPA4 Ellen McDonagh added OPA4 to panel
Optic neuropathy OPA4 Ellen McDonagh reviewed OPA4
Optic neuropathy OPA8 Ellen McDonagh classified OPA8 as red
Optic neuropathy OPA8 Ellen McDonagh added OPA8 to panel
Optic neuropathy OPA8 Ellen McDonagh reviewed OPA8
Optic neuropathy OPA6 Ellen McDonagh marked OPA6 as ready
Optic neuropathy OPA6 Ellen McDonagh classified OPA6 as red
Optic neuropathy OPA6 Ellen McDonagh added OPA6 to panel
Optic neuropathy OPA6 Ellen McDonagh reviewed OPA6
Optic neuropathy TMEM126A Ellen McDonagh classified TMEM126A as red
Optic neuropathy TIMM8A Ellen McDonagh classified TIMM8A as amber
Optic neuropathy TIMM8A Ellen McDonagh commented on TIMM8A
Optic neuropathy WFS1 Ellen McDonagh classified WFS1 as amber
Optic neuropathy WFS1 Ellen McDonagh commented on WFS1
Optic neuropathy TIMM8A Ellen McDonagh classified TIMM8A as amber
Optic neuropathy SPG7 Ellen McDonagh classified SPG7 as amber
Optic neuropathy SPG7 Ellen McDonagh commented on SPG7
Optic neuropathy NR2F1 Ellen McDonagh classified NR2F1 as amber
Optic neuropathy NR2F1 Ellen McDonagh classified NR2F1 as green
Optic neuropathy NR2F1 Ellen McDonagh commented on NR2F1
Optic neuropathy NR2F1 Ellen McDonagh classified NR2F1 as red
Optic neuropathy MT-ND6 Ellen McDonagh commented on MT-ND6
Optic neuropathy MT-ND6 Ellen McDonagh classified MT-ND6 as amber
Optic neuropathy MT-ND4 Ellen McDonagh classified MT-ND4 as amber
Optic neuropathy MT-ND4 Ellen McDonagh commented on MT-ND4
Optic neuropathy MT-ND1 Ellen McDonagh marked MT-ND1 as ready
Optic neuropathy MT-ND1 Ellen McDonagh classified MT-ND1 as green
Optic neuropathy MT-ND1 Ellen McDonagh commented on MT-ND1
Optic neuropathy MT-ATP6 Ellen McDonagh marked MT-ATP6 as ready
Peroxisomal disorders CBS Sarah Leigh classified CBS as red
Optic neuropathy MT-ATP6 Ellen McDonagh classified MT-ATP6 as green
Optic neuropathy MT-ATP6 Ellen McDonagh commented on MT-ATP6
Peroxisomal disorders CBS Sarah Leigh edited their review of CBS
Optic neuropathy MFN2 Ellen McDonagh classified MFN2 as amber
Optic neuropathy MFN2 Ellen McDonagh commented on MFN2
Peroxisomal disorders DYM Sarah Leigh edited their review of DYM
Peroxisomal disorders AGK Sarah Leigh classified AGK as green
Optic neuropathy GP1BA Ellen McDonagh marked GP1BA as ready
Optic neuropathy GP1BA Ellen McDonagh classified GP1BA as red
Optic neuropathy GP1BA Ellen McDonagh commented on GP1BA
Peroxisomal disorders AGK Sarah Leigh edited their review of AGK
Peroxisomal disorders AGK Sarah Leigh edited their review of AGK
Inherited bleeding disorders GP1BB Ellen McDonagh added GP1BB to panel
Inherited bleeding disorders GP1BB Ellen McDonagh reviewed GP1BB
Inherited bleeding disorders GP1BA Ellen McDonagh added GP1BA to panel
Inherited bleeding disorders GP1BA Ellen McDonagh reviewed GP1BA
Inherited bleeding disorders GP9 Ellen McDonagh added GP9 to panel
Inherited bleeding disorders GP9 Ellen McDonagh reviewed GP9
Optic neuropathy TMEM126A Ellen McDonagh classified TMEM126A as amber
Optic neuropathy TMEM126A Ellen McDonagh commented on TMEM126A
Optic neuropathy RTN4IP1 Ellen McDonagh classified RTN4IP1 as amber
Optic neuropathy RTN4IP1 Ellen McDonagh added RTN4IP1 to panel
Optic neuropathy RTN4IP1 Ellen McDonagh reviewed RTN4IP1
Optic neuropathy OPA3 Ellen McDonagh marked OPA3 as ready
Optic neuropathy OPA3 Ellen McDonagh commented on OPA3
Optic neuropathy OPA1 Ellen McDonagh marked OPA1 as ready
Optic neuropathy OPA1 Ellen McDonagh commented on OPA1
Infantile enterocolitis & monogenic inflammatory bowel disease TTC37 Sarah Leigh edited their review of TTC37
Infantile enterocolitis & monogenic inflammatory bowel disease IL10RA Sarah Leigh edited their review of IL10RA
Infantile enterocolitis & monogenic inflammatory bowel disease ZAP70 Sarah Leigh edited their review of ZAP70
Infantile enterocolitis & monogenic inflammatory bowel disease ZAP70 Sarah Leigh commented on ZAP70
Infantile enterocolitis & monogenic inflammatory bowel disease RAG2 Sarah Leigh reviewed RAG2
Infantile enterocolitis & monogenic inflammatory bowel disease PLCG2 Sarah Leigh reviewed PLCG2
Infantile enterocolitis & monogenic inflammatory bowel disease NCF1 Sarah Leigh reviewed NCF1
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3CD Sarah Leigh edited their review of PIK3CD
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3CD Sarah Leigh commented on PIK3CD
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3R1 Sarah Leigh reviewed PIK3R1
Infantile enterocolitis & monogenic inflammatory bowel disease LIG4 Sarah Leigh edited their review of LIG4
Infantile enterocolitis & monogenic inflammatory bowel disease LIG4 Sarah Leigh commented on LIG4
Infantile enterocolitis & monogenic inflammatory bowel disease IL2RG Sarah Leigh edited their review of IL2RG
Infantile enterocolitis & monogenic inflammatory bowel disease IL2RG Sarah Leigh commented on IL2RG
Infantile enterocolitis & monogenic inflammatory bowel disease ITGB2 Sarah Leigh reviewed ITGB2
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Sarah Leigh edited their review of IKBKG
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Sarah Leigh edited their review of IKBKG
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Sarah Leigh commented on IKBKG
Infantile enterocolitis & monogenic inflammatory bowel disease GUCY2C Sarah Leigh edited their review of GUCY2C
Infantile enterocolitis & monogenic inflammatory bowel disease GUCY2C Sarah Leigh commented on GUCY2C
Infantile enterocolitis & monogenic inflammatory bowel disease DOCK8 Sarah Leigh commented on DOCK8
Early onset dystonia ATM Ellen Thomas marked ATM as ready
Early onset dystonia ATM Ellen Thomas classified ATM as green
Early onset dystonia ATM Ellen Thomas commented on ATM
Early onset dystonia APTX Ellen Thomas marked APTX as ready
Early onset dystonia APTX Ellen Thomas classified APTX as green
Early onset dystonia APTX Ellen Thomas commented on APTX
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as red
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh commented on LYST
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh classified SLC24A5 as red
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh commented on SLC24A5
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh classified C10orf11 as red
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh commented on C10orf11