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Clefting DIS3L2 Louise Daugherty added DIS3L2 to panel
Clefting DIS3L2 Louise Daugherty reviewed DIS3L2
Thoracic dystrophies IFT43 Ellen McDonagh commented on IFT43
Thoracic dystrophies IFT122 Ellen McDonagh marked IFT122 as ready
Thoracic dystrophies IFT122 Ellen McDonagh classified IFT122 as green
Thoracic dystrophies IFT122 Ellen McDonagh commented on IFT122
Thoracic dystrophies ICK Ellen McDonagh marked ICK as ready
Thoracic dystrophies ICK Ellen McDonagh classified ICK as green
Primary ovarian insufficiency ATM Arianna Tucci marked ATM as ready
Primary ovarian insufficiency ATM Arianna Tucci marked ATM as ready
Primary ovarian insufficiency ATM Arianna Tucci classified ATM as green
Primary ovarian insufficiency WRN Arianna Tucci commented on WRN
Primary ovarian insufficiency SOHLH2 Arianna Tucci commented on SOHLH2
Primary ovarian insufficiency SOHLH1 Arianna Tucci reviewed SOHLH1
Primary ovarian insufficiency SGOL2 Arianna Tucci commented on SGOL2
Primary ovarian insufficiency RECQL4 Arianna Tucci commented on RECQL4
Primary ovarian insufficiency RCBTB1 Arianna Tucci commented on RCBTB1
Primary ovarian insufficiency POU5F1 Arianna Tucci commented on POU5F1
Primary ovarian insufficiency POU5F1 Arianna Tucci commented on POU5F1
Primary ovarian insufficiency NUP107 Arianna Tucci commented on NUP107
Primary ovarian insufficiency NOG Arianna Tucci commented on NOG
Primary ovarian insufficiency NBN Arianna Tucci commented on NBN
Primary ovarian insufficiency NANOS3 Arianna Tucci commented on NANOS3
Primary ovarian insufficiency GDF9 Arianna Tucci commented on GDF9
Primary ovarian insufficiency FANCG Arianna Tucci commented on FANCG
Primary ovarian insufficiency FANCC Arianna Tucci commented on FANCC
Primary ovarian insufficiency FANCA Arianna Tucci commented on FANCA
Primary ovarian insufficiency EIF2B5 Arianna Tucci commented on EIF2B5
Thoracic dystrophies ICK Ellen McDonagh classified ICK as amber
Thoracic dystrophies ICK Ellen McDonagh commented on ICK
Primary ovarian insufficiency EIF2B4 Arianna Tucci commented on EIF2B4
Primary ovarian insufficiency EIF2B2 Arianna Tucci commented on EIF2B2
Primary ovarian insufficiency BLM Arianna Tucci commented on BLM
Primary ovarian insufficiency ATM Arianna Tucci commented on ATM
Primary ovarian insufficiency ATM Arianna Tucci commented on ATM
Thoracic dystrophies DDX59 Ellen McDonagh classified DDX59 as amber
Thoracic dystrophies DDX59 Ellen McDonagh commented on DDX59
Thoracic dystrophies CSPP1 Ellen McDonagh marked CSPP1 as ready
Thoracic dystrophies CSPP1 Ellen McDonagh classified CSPP1 as green
Thoracic dystrophies CSPP1 Ellen McDonagh commented on CSPP1
Thoracic dystrophies CEP120 Ellen McDonagh marked CEP120 as ready
Thoracic dystrophies CEP120 Ellen McDonagh classified CEP120 as green
Thoracic dystrophies CEP120 Ellen McDonagh commented on CEP120
Thoracic dystrophies C5orf42 Ellen McDonagh classified C5orf42 as amber
Thoracic dystrophies C21orf2 Ellen McDonagh marked C21orf2 as ready
Thoracic dystrophies C21orf2 Ellen McDonagh classified C21orf2 as green
Thoracic dystrophies C21orf2 Ellen McDonagh commented on C21orf2
Thoracic dystrophies WDR35 Melita Irving reviewed WDR35
Thoracic dystrophies WDR19 Melita Irving reviewed WDR19
Thoracic dystrophies TTC21B Melita Irving reviewed TTC21B
Thoracic dystrophies ZNF423 Melita Irving reviewed ZNF423
Thoracic dystrophies ZIC3 Melita Irving reviewed ZIC3
Thoracic dystrophies XPNPEP3 Melita Irving reviewed XPNPEP3
Thoracic dystrophies WDR60 Melita Irving reviewed WDR60
Thoracic dystrophies WDR34 Melita Irving reviewed WDR34
Thoracic dystrophies WDPCP Melita Irving reviewed WDPCP
Thoracic dystrophies VHL Melita Irving reviewed VHL
Thoracic dystrophies USH2A Melita Irving reviewed USH2A
Thoracic dystrophies USH1G Melita Irving reviewed USH1G
Thoracic dystrophies USH1C Melita Irving reviewed USH1C
Thoracic dystrophies UMOD Melita Irving reviewed UMOD
Thoracic dystrophies TULP1 Melita Irving reviewed TULP1
Thoracic dystrophies TTC8 Melita Irving reviewed TTC8
Thoracic dystrophies TSC2 Melita Irving reviewed TSC2
Thoracic dystrophies TSC1 Melita Irving reviewed TSC1
Thoracic dystrophies TRIM32 Melita Irving reviewed TRIM32
Thoracic dystrophies TOPORS Melita Irving reviewed TOPORS
Thoracic dystrophies TMEM67 Melita Irving reviewed TMEM67
Thoracic dystrophies TMEM237 Melita Irving reviewed TMEM237
Thoracic dystrophies TMEM231 Melita Irving reviewed TMEM231
Thoracic dystrophies TMEM216 Melita Irving reviewed TMEM216
Thoracic dystrophies TMEM138 Melita Irving reviewed TMEM138
Thoracic dystrophies TMEM107 Melita Irving reviewed TMEM107
Thoracic dystrophies TCTN2 Melita Irving reviewed TCTN2
Thoracic dystrophies TCTN1 Melita Irving reviewed TCTN1
Thoracic dystrophies TCTEX1D2 Melita Irving reviewed TCTEX1D2
Thoracic dystrophies TBC1D32 Melita Irving reviewed TBC1D32
Thoracic dystrophies SPATA7 Melita Irving reviewed SPATA7
Thoracic dystrophies SDCCAG8 Melita Irving reviewed SDCCAG8
Thoracic dystrophies SCNN1G Melita Irving reviewed SCNN1G
Thoracic dystrophies SCNN1B Melita Irving reviewed SCNN1B
Thoracic dystrophies SCNN1A Melita Irving reviewed SCNN1A
Thoracic dystrophies SCLT1 Melita Irving reviewed SCLT1
Thoracic dystrophies RSPH9 Melita Irving reviewed RSPH9
Thoracic dystrophies RSPH4A Melita Irving reviewed RSPH4A
Thoracic dystrophies RPGRIP1L Melita Irving reviewed RPGRIP1L
Thoracic dystrophies RPGRIP1 Melita Irving reviewed RPGRIP1
Thoracic dystrophies RPGR Melita Irving reviewed RPGR
Thoracic dystrophies RPE65 Melita Irving reviewed RPE65
Thoracic dystrophies RDH12 Melita Irving reviewed RDH12
Thoracic dystrophies RD3 Melita Irving reviewed RD3
Thoracic dystrophies PKHD1 Melita Irving reviewed PKHD1
Thoracic dystrophies PKD2 Melita Irving reviewed PKD2
Thoracic dystrophies PCDH15 Melita Irving reviewed PCDH15
Thoracic dystrophies OFD1 Melita Irving reviewed OFD1
Thoracic dystrophies NPHP4 Melita Irving reviewed NPHP4
Thoracic dystrophies NPHP3 Melita Irving reviewed NPHP3
Thoracic dystrophies NPHP1 Melita Irving reviewed NPHP1
Thoracic dystrophies NODAL Melita Irving reviewed NODAL
Thoracic dystrophies NME8 Melita Irving reviewed NME8
Thoracic dystrophies NKX2-5 Melita Irving reviewed NKX2-5
Thoracic dystrophies NEK8 Melita Irving reviewed NEK8
Thoracic dystrophies MYO7A Melita Irving reviewed MYO7A
Thoracic dystrophies MKS1 Melita Irving reviewed MKS1
Thoracic dystrophies MKKS Melita Irving reviewed MKKS
Thoracic dystrophies LRAT Melita Irving reviewed LRAT
Thoracic dystrophies LEFTY2 Melita Irving reviewed LEFTY2
Thoracic dystrophies LCA5 Melita Irving reviewed LCA5
Thoracic dystrophies KIF7 Melita Irving reviewed KIF7
Thoracic dystrophies KIAA0586 Melita Irving reviewed KIAA0586
Thoracic dystrophies KCNJ13 Melita Irving reviewed KCNJ13
Thoracic dystrophies IQCB1 Melita Irving reviewed IQCB1
Thoracic dystrophies INVS Melita Irving reviewed INVS
Thoracic dystrophies INTU Melita Irving reviewed INTU
Thoracic dystrophies IMPDH1 Melita Irving reviewed IMPDH1
Thoracic dystrophies IFT81 Melita Irving reviewed IFT81
Thoracic dystrophies IFT52 Melita Irving reviewed IFT52
Thoracic dystrophies IFT172 Melita Irving reviewed IFT172
Thoracic dystrophies IFT140 Melita Irving edited their review of IFT140
Thoracic dystrophies IFT122 Melita Irving reviewed IFT122
Thoracic dystrophies IFT43 Melita Irving reviewed IFT43
Thoracic dystrophies ICK Melita Irving reviewed ICK
Thoracic dystrophies HYLS1 Melita Irving reviewed HYLS1
Thoracic dystrophies GUCY2D Melita Irving reviewed GUCY2D
Thoracic dystrophies GLIS2 Melita Irving reviewed GLIS2
Thoracic dystrophies GDF1 Melita Irving reviewed GDF1
Thoracic dystrophies FOXH1 Melita Irving reviewed FOXH1
Thoracic dystrophies DYNC2LI1 Melita Irving reviewed DYNC2LI1
Thoracic dystrophies DNAL1 Melita Irving reviewed DNAL1
Thoracic dystrophies DNAI2 Melita Irving reviewed DNAI2
Thoracic dystrophies DNAI1 Melita Irving reviewed DNAI1
Thoracic dystrophies DNAH5 Melita Irving reviewed DNAH5
Thoracic dystrophies DNAH11 Melita Irving reviewed DNAH11
Thoracic dystrophies DNAAF3 Melita Irving reviewed DNAAF3
Thoracic dystrophies DNAAF2 Melita Irving reviewed DNAAF2
Thoracic dystrophies DNAAF1 Melita Irving reviewed DNAAF1
Thoracic dystrophies DFNB31 Melita Irving reviewed DFNB31
Thoracic dystrophies DDX59 Melita Irving reviewed DDX59
Thoracic dystrophies CSPP1 Melita Irving reviewed CSPP1
Thoracic dystrophies CRX Melita Irving reviewed CRX
Thoracic dystrophies CRELD1 Melita Irving reviewed CRELD1
Thoracic dystrophies CRB1 Melita Irving reviewed CRB1
Thoracic dystrophies CLRN1 Melita Irving reviewed CLRN1
Thoracic dystrophies CFTR Melita Irving reviewed CFTR
Thoracic dystrophies CEP41 Melita Irving reviewed CEP41
Thoracic dystrophies CEP290 Melita Irving reviewed CEP290
Thoracic dystrophies CEP164 Melita Irving reviewed CEP164
Thoracic dystrophies CEP120 Melita Irving reviewed CEP120
Thoracic dystrophies CDH23 Melita Irving reviewed CDH23
Thoracic dystrophies CCDC40 Melita Irving reviewed CCDC40
Thoracic dystrophies CCDC39 Melita Irving reviewed CCDC39
Thoracic dystrophies CCDC28B Melita Irving reviewed CCDC28B
Thoracic dystrophies CC2D2A Melita Irving reviewed CC2D2A
Thoracic dystrophies C5orf42 Melita Irving reviewed C5orf42
Thoracic dystrophies C2CD3 Melita Irving reviewed C2CD3
Thoracic dystrophies C2orf71 Melita Irving reviewed C2orf71
Thoracic dystrophies BBS9 Melita Irving reviewed BBS9
Thoracic dystrophies BBS7 Melita Irving reviewed BBS7
Thoracic dystrophies BBS5 Melita Irving reviewed BBS5
Thoracic dystrophies BBS4 Melita Irving reviewed BBS4
Thoracic dystrophies BBS2 Melita Irving reviewed BBS2
Thoracic dystrophies BBS12 Melita Irving reviewed BBS12
Thoracic dystrophies BBS10 Melita Irving reviewed BBS10
Thoracic dystrophies BBS1 Melita Irving reviewed BBS1
Thoracic dystrophies B9D2 Melita Irving reviewed B9D2
Thoracic dystrophies B9D1 Melita Irving reviewed B9D1
Thoracic dystrophies ATXN10 Melita Irving reviewed ATXN10
Thoracic dystrophies ARL6 Melita Irving reviewed ARL6
Thoracic dystrophies ARL13B Melita Irving reviewed ARL13B
Thoracic dystrophies AIPL1 Melita Irving reviewed AIPL1
Thoracic dystrophies AHI1 Melita Irving reviewed AHI1
Thoracic dystrophies ADGRV1 Melita Irving reviewed ADGRV1
Thoracic dystrophies ACVR2B Melita Irving reviewed ACVR2B
Thoracic dystrophies IFT80 Melita Irving reviewed IFT80
Thoracic dystrophies IFT140 Melita Irving reviewed IFT140
Thoracic dystrophies C21orf2 Melita Irving reviewed C21orf2
Thoracic dystrophies NEK1 Melita Irving reviewed NEK1
Thoracic dystrophies DYNC2H1 Melita Irving reviewed DYNC2H1
Thoracic dystrophies EVC2 Melita Irving reviewed EVC2
Thoracic dystrophies EVC Melita Irving reviewed EVC
Clefting B3GALTL Ellen McDonagh commented on B3GALTL
Clefting TWIST2 Helen Brittain reviewed TWIST2
Clefting ALG9 Helen Brittain reviewed ALG9
Clefting DLX4 Helen Brittain reviewed DLX4
Clefting DDX3X Helen Brittain reviewed DDX3X
Clefting SEC23A Helen Brittain reviewed SEC23A
Clefting TBX15 Helen Brittain reviewed TBX15
Clefting RYR1 Helen Brittain reviewed RYR1
Clefting MED25 Helen Brittain reviewed MED25
Clefting RBPJ Helen Brittain reviewed RBPJ
Clefting WDR60 Helen Brittain reviewed WDR60
Clefting WDR35 Helen Brittain reviewed WDR35
Clefting WDR19 Helen Brittain reviewed WDR19
Clefting TTC21B Helen Brittain reviewed TTC21B
Clefting IFT52 Helen Brittain reviewed IFT52
Clefting WDR34 Helen Brittain reviewed WDR34
Clefting DDX59 Helen Brittain reviewed DDX59
Clefting MEOX1 Helen Brittain reviewed MEOX1
Clefting SON Helen Brittain reviewed SON
Clefting TELO2 Helen Brittain reviewed TELO2
Clefting MAPRE2 Helen Brittain reviewed MAPRE2
Clefting TUBB Helen Brittain reviewed TUBB
Clefting PHF8 Helen Brittain reviewed PHF8
Clefting EIF2S3 Helen Brittain reviewed EIF2S3
Clefting KAT6A Helen Brittain reviewed KAT6A
Clefting CTCF Helen Brittain reviewed CTCF
Clefting EBP Helen Brittain reviewed EBP
Clefting MBTPS2 Helen Brittain reviewed MBTPS2
Clefting CHST14 Helen Brittain reviewed CHST14
Clefting KCNJ2 Helen Brittain reviewed KCNJ2
Clefting SEPT9 Helen Brittain reviewed SEPT9
Clefting NOTCH1 Helen Brittain reviewed NOTCH1
Clefting EOGT Helen Brittain reviewed EOGT
Clefting DOCK6 Helen Brittain reviewed DOCK6
Clefting DLL4 Helen Brittain reviewed DLL4
Clefting ARHGAP31 Helen Brittain reviewed ARHGAP31
Clefting SIX5 Helen Brittain reviewed SIX5
Clefting SIX1 Helen Brittain reviewed SIX1
Clefting EYA1 Helen Brittain reviewed EYA1
Clefting PAX3 Helen Brittain reviewed PAX3
Clefting CTNND1 Helen Brittain reviewed CTNND1
Clefting CHD1 Helen Brittain reviewed CHD1
Clefting GRHL3 Helen Brittain reviewed GRHL3
Clefting IRF6 Helen Brittain reviewed IRF6
Clefting ZIC3 Helen Brittain reviewed ZIC3
Clefting POLR1D Helen Brittain reviewed POLR1D
Clefting POLR1C Helen Brittain reviewed POLR1C
Clefting TCOF1 Helen Brittain reviewed TCOF1
Clefting COL2A1 Helen Brittain reviewed COL2A1
Clefting DHCR7 Helen Brittain reviewed DHCR7
Clefting GPC3 Helen Brittain reviewed GPC3
Clefting IFT140 Helen Brittain reviewed IFT140
Clefting NEK1 Helen Brittain reviewed NEK1
Clefting DYNC2H1 Helen Brittain reviewed DYNC2H1
Clefting IFT80 Helen Brittain reviewed IFT80
Clefting DYNC2LI1 Helen Brittain reviewed DYNC2LI1
Clefting KIAA0586 Helen Brittain reviewed KIAA0586
Clefting IFT172 Helen Brittain reviewed IFT172
Clefting ROR2 Helen Brittain reviewed ROR2
Clefting DVL1 Helen Brittain reviewed DVL1
Clefting WNT5A Helen Brittain reviewed WNT5A
Clefting ESCO2 Helen Brittain reviewed ESCO2
Clefting DHODH Helen Brittain reviewed DHODH
Clefting B3GLCT Helen Brittain reviewed B3GLCT*
Clefting FLNA Helen Brittain reviewed FLNA
Clefting AMER1 Helen Brittain reviewed AMER1
Clefting C2CD3 Helen Brittain reviewed C2CD3
Clefting C5orf42 Helen Brittain reviewed C5orf42
Clefting TCTN3 Helen Brittain reviewed TCTN3
Clefting OFD1 Helen Brittain reviewed OFD1
Clefting SPECC1L Helen Brittain reviewed SPECC1L
Clefting MID1 Helen Brittain reviewed MID1
Clefting EFTUD2 Helen Brittain reviewed EFTUD2
Clefting EDNRA Helen Brittain reviewed EDNRA
Clefting FOXC2 Helen Brittain reviewed FOXC2
Clefting TGFB3 Helen Brittain reviewed TGFB3
Clefting SMAD3 Helen Brittain reviewed SMAD3
Clefting TGFBR1 Helen Brittain reviewed TGFBR1
Clefting SALL4 Helen Brittain reviewed SALL4
Clefting EFNB1 Helen Brittain reviewed EFNB1
Clefting HDAC8 Helen Brittain reviewed HDAC8
Clefting SMC3 Helen Brittain reviewed SMC3
Clefting SMC1A Helen Brittain reviewed SMC1A
Clefting NIPBL Helen Brittain reviewed NIPBL
Clefting CHD7 Helen Brittain reviewed CHD7
Clefting SNRPB Helen Brittain reviewed SNRPB
Clefting TGDS Helen Brittain reviewed TGDS
Clefting SOX9 Helen Brittain reviewed SOX9
Clefting TXNL4A Helen Brittain reviewed TXNL4A
Clefting TFAP2A Helen Brittain reviewed TFAP2A
Clefting ASXL1 Helen Brittain reviewed ASXL1
Clefting CDKN1C Helen Brittain reviewed CDKN1C
Clefting PTCH1 Helen Brittain reviewed PTCH1
Clefting ACTG1 Helen Brittain reviewed ACTG1
Clefting ACTB Helen Brittain reviewed ACTB
Clefting PIEZO2 Helen Brittain reviewed PIEZO2
Clefting FGFR2 Helen Brittain reviewed FGFR2
Clefting TP63 Helen Brittain reviewed TP63
Clefting ZSWIM6 Helen Brittain reviewed ZSWIM6
Clefting SF3B4 Helen Brittain reviewed SF3B4
Clefting KIF7 Helen Brittain reviewed KIF7
Clefting FGD1 Helen Brittain reviewed FGD1
Clefting COLEC10 Helen Brittain reviewed COLEC10
Clefting COLEC11 Helen Brittain reviewed COLEC11
Clefting MASP1 Helen Brittain reviewed MASP1
Clefting SLC26A2 Ellen McDonagh classified SLC26A2 as green
Clefting SOX2 Helen Brittain reviewed SOX2
Clefting SMOC1 Helen Brittain reviewed SMOC1
Clefting RPS19 Helen Brittain reviewed RPS19
Clefting RPS17 Helen Brittain reviewed RPS17
Clefting RBM8A Helen Brittain reviewed RBM8A
Clefting RAI1 Helen Brittain reviewed RAI1
Clefting SMS Helen Brittain reviewed SMS
Clefting SMAD4 Helen Brittain reviewed SMAD4
Clefting SLC26A2 Helen Brittain reviewed SLC26A2
Clefting SKI Helen Brittain reviewed SKI
Clefting SIX3 Helen Brittain reviewed SIX3
Clefting SHH Helen Brittain reviewed SHH
Clefting SCARF2 Helen Brittain reviewed SCARF2
Clefting SATB2 Helen Brittain reviewed SATB2
Clefting RPS26 Helen Brittain reviewed RPS26
Clefting RPL5 Helen Brittain reviewed RPL5
Clefting RBM10 Helen Brittain reviewed RBM10
Clefting RPS28 Helen Brittain reviewed RPS28
Clefting RARB Helen Brittain reviewed RARB
Neurotransmitter disorders Louise Daugherty promoted panel to version 1
Neurotransmitter disorders TH Louise Daugherty classified TH as green
Neurotransmitter disorders TH Louise Daugherty edited their review of TH
Neurotransmitter disorders TH Louise Daugherty commented on TH
Neurotransmitter disorders SPR Louise Daugherty classified SPR as green
Neurotransmitter disorders SPR Louise Daugherty edited their review of SPR
Neurotransmitter disorders SPR Louise Daugherty commented on SPR
Neurotransmitter disorders SLC6A3 Louise Daugherty classified SLC6A3 as green
Neurotransmitter disorders SLC6A3 Louise Daugherty commented on SLC6A3
Neurotransmitter disorders SLC18A2 Louise Daugherty classified SLC18A2 as green
Neurotransmitter disorders SLC18A2 Louise Daugherty classified SLC18A2 as amber
Neurotransmitter disorders SLC18A2 Louise Daugherty commented on SLC18A2
Neurotransmitter disorders QDPR Louise Daugherty classified QDPR as green
Neurotransmitter disorders QDPR Louise Daugherty commented on QDPR
Differences in sex development TOE1 Helen Brittain marked TOE1 as ready
Differences in sex development TOE1 Helen Brittain classified TOE1 as green
Differences in sex development TOE1 Helen Brittain added TOE1 to panel
Differences in sex development TOE1 Helen Brittain reviewed TOE1
Intellectual disability TOE1 Helen Brittain marked TOE1 as ready
Intellectual disability TOE1 Helen Brittain classified TOE1 as green
Intellectual disability TOE1 Helen Brittain classified TOE1 as green
Intellectual disability TOE1 Helen Brittain added TOE1 to panel
Intellectual disability TOE1 Helen Brittain reviewed TOE1
Neurotransmitter disorders PTS Louise Daugherty edited their review of PTS
Neurotransmitter disorders PTS Louise Daugherty classified PTS as green
Cerebellar hypoplasia TOE1 Helen Brittain marked TOE1 as ready
Neurotransmitter disorders PTS Louise Daugherty commented on PTS
Cerebellar hypoplasia TOE1 Helen Brittain classified TOE1 as green
Cerebellar hypoplasia TOE1 Helen Brittain added TOE1 to panel
Cerebellar hypoplasia TOE1 Helen Brittain reviewed TOE1
Hydrocephalus KIF7 Helen Brittain marked KIF7 as ready
Hydrocephalus KIF7 Helen Brittain classified KIF7 as amber
Hydrocephalus KIF7 Helen Brittain added KIF7 to panel
Hydrocephalus KIF7 Helen Brittain reviewed KIF7
Hydrocephalus KIAA0586 Helen Brittain marked KIAA0586 as ready
Hydrocephalus KIAA0586 Helen Brittain classified KIAA0586 as green
Hydrocephalus KIAA0586 Helen Brittain added KIAA0586 to panel
Hydrocephalus KIAA0586 Helen Brittain reviewed KIAA0586
Hydrocephalus HYLS1 Helen Brittain marked HYLS1 as ready
Hydrocephalus HYLS1 Helen Brittain classified HYLS1 as green
Hydrocephalus HYLS1 Helen Brittain added HYLS1 to panel
Hydrocephalus HYLS1 Helen Brittain reviewed HYLS1
Neurotransmitter disorders PITX3 Louise Daugherty classified PITX3 as red
Neurotransmitter disorders PITX3 Louise Daugherty commented on PITX3
Hydrocephalus FGFR3 Helen Brittain edited their review of FGFR3
Hydrocephalus CRB2 Helen Brittain marked CRB2 as ready
Hydrocephalus CRB2 Helen Brittain classified CRB2 as green
Hydrocephalus CRB2 Helen Brittain added CRB2 to panel
Hydrocephalus CRB2 Helen Brittain reviewed CRB2
Hydrocephalus NSD1 Helen Brittain marked NSD1 as ready
Hydrocephalus NSD1 Helen Brittain classified NSD1 as green
Hydrocephalus NSD1 Helen Brittain added NSD1 to panel
Hydrocephalus NSD1 Helen Brittain reviewed NSD1
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CDKN1C Helen Brittain classified CDKN1C as green
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CDKN1C Helen Brittain reviewed CDKN1C
Thoracic dystrophies WDR34 Helen Brittain reviewed WDR34
Thoracic dystrophies IFT52 Helen Brittain reviewed IFT52
Thoracic dystrophies DDX59 Helen Brittain reviewed DDX59
Neurotransmitter disorders MAOA Louise Daugherty classified MAOA as green
Thoracic dystrophies OFD1 Helen Brittain marked OFD1 as ready
Thoracic dystrophies OFD1 Helen Brittain classified OFD1 as green
Thoracic dystrophies OFD1 Helen Brittain reviewed OFD1
Thoracic dystrophies KIF7 Helen Brittain marked KIF7 as ready
Thoracic dystrophies KIF7 Helen Brittain classified KIF7 as green
Thoracic dystrophies KIF7 Helen Brittain reviewed KIF7
Thoracic dystrophies KIAA0586 Helen Brittain marked KIAA0586 as ready
Thoracic dystrophies KIAA0586 Helen Brittain classified KIAA0586 as green
Thoracic dystrophies KIAA0586 Helen Brittain reviewed KIAA0586
Thoracic dystrophies IFT172 Helen Brittain marked IFT172 as ready
Thoracic dystrophies IFT172 Helen Brittain classified IFT172 as green
Thoracic dystrophies IFT172 Helen Brittain reviewed IFT172
Neurotransmitter disorders MAOA Louise Daugherty commented on MAOA
Thoracic dystrophies HYLS1 Helen Brittain marked HYLS1 as ready
Primary ovarian insufficiency SGOL2 Arianna Tucci edited their review of SGOL2
Thoracic dystrophies HYLS1 Helen Brittain classified HYLS1 as green
Thoracic dystrophies HYLS1 Helen Brittain reviewed HYLS1
Thoracic dystrophies DYNC2LI1 Helen Brittain marked DYNC2LI1 as ready
Thoracic dystrophies DYNC2LI1 Helen Brittain classified DYNC2LI1 as green
Thoracic dystrophies DYNC2LI1 Helen Brittain reviewed DYNC2LI1
Thoracic dystrophies C2CD3 Helen Brittain marked C2CD3 as ready
Thoracic dystrophies C2CD3 Helen Brittain classified C2CD3 as green
Thoracic dystrophies C2CD3 Helen Brittain reviewed C2CD3
Neonatal diabetes GATA6 Rebecca Foulger edited their review of GATA6
Thoracic dystrophies IFT80 Ellen McDonagh marked IFT80 as ready
Thoracic dystrophies IFT80 Ellen McDonagh classified IFT80 as green
Thoracic dystrophies IFT80 Ellen McDonagh commented on IFT80
Neonatal diabetes LRBA Rebecca Foulger classified LRBA as green
Neurotransmitter disorders GCH1 Louise Daugherty classified GCH1 as green
Neonatal diabetes CISD2 Rebecca Foulger marked CISD2 as ready
Neonatal diabetes CISD2 Rebecca Foulger classified CISD2 as red
Thoracic dystrophies IFT140 Ellen McDonagh marked IFT140 as ready
Neonatal diabetes CISD2 Rebecca Foulger added CISD2 to panel
Neonatal diabetes CISD2 Rebecca Foulger reviewed CISD2
Thoracic dystrophies IFT140 Ellen McDonagh classified IFT140 as green
Thoracic dystrophies IFT140 Ellen McDonagh commented on IFT140
Primary ovarian insufficiency SGOL2 Arianna Tucci commented on SGOL2
Neurotransmitter disorders GCH1 Louise Daugherty commented on GCH1
Neonatal diabetes GCK Rebecca Foulger marked GCK as ready
Neonatal diabetes GCK Rebecca Foulger classified GCK as green
Neonatal diabetes GCK Rebecca Foulger commented on GCK
Neurotransmitter disorders FOLR1 Louise Daugherty classified FOLR1 as green
Thoracic dystrophies WDR35 Hannah Mitchison reviewed WDR35
Thoracic dystrophies WDR19 Hannah Mitchison reviewed WDR19
Thoracic dystrophies TTC21B Hannah Mitchison reviewed TTC21B
Neonatal diabetes WFS1 Rebecca Foulger marked WFS1 as ready
Neonatal diabetes WFS1 Rebecca Foulger classified WFS1 as green
Neonatal diabetes WFS1 Rebecca Foulger added WFS1 to panel
Neonatal diabetes WFS1 Rebecca Foulger reviewed WFS1
Neurotransmitter disorders FOLR1 Louise Daugherty commented on FOLR1
Neonatal diabetes INSR Rebecca Foulger added INSR to panel
Neonatal diabetes INSR Rebecca Foulger reviewed INSR
Neurotransmitter disorders DNAJC12 Louise Daugherty classified DNAJC12 as green
Neurotransmitter disorders DNAJC12 Louise Daugherty edited their review of DNAJC12
Neonatal diabetes BSCL2 Rebecca Foulger commented on BSCL2
Neurotransmitter disorders DNAJC12 Louise Daugherty commented on DNAJC12
Neonatal diabetes BSCL2 Rebecca Foulger commented on BSCL2
Neurotransmitter disorders DHFR Louise Daugherty classified DHFR as green
Neurotransmitter disorders DHFR Louise Daugherty commented on DHFR
Thoracic dystrophies ZNF423 Hannah Mitchison reviewed ZNF423
Thoracic dystrophies ZIC3 Hannah Mitchison reviewed ZIC3
Thoracic dystrophies XPNPEP3 Hannah Mitchison reviewed XPNPEP3
Thoracic dystrophies WDR60 Hannah Mitchison reviewed WDR60
Thoracic dystrophies WDR34 Hannah Mitchison reviewed WDR34
Thoracic dystrophies WDPCP Hannah Mitchison reviewed WDPCP
Thoracic dystrophies VHL Hannah Mitchison reviewed VHL
Thoracic dystrophies USH2A Hannah Mitchison reviewed USH2A
Thoracic dystrophies USH1G Hannah Mitchison reviewed USH1G
Thoracic dystrophies USH1C Hannah Mitchison reviewed USH1C
Thoracic dystrophies UMOD Hannah Mitchison reviewed UMOD
Thoracic dystrophies TULP1 Hannah Mitchison reviewed TULP1
Thoracic dystrophies TTC8 Hannah Mitchison reviewed TTC8
Thoracic dystrophies TSC2 Hannah Mitchison reviewed TSC2
Thoracic dystrophies TSC1 Hannah Mitchison reviewed TSC1
Thoracic dystrophies TRIM32 Hannah Mitchison reviewed TRIM32
Thoracic dystrophies TOPORS Hannah Mitchison reviewed TOPORS
Thoracic dystrophies TMEM67 Hannah Mitchison reviewed TMEM67
Thoracic dystrophies TMEM237 Hannah Mitchison reviewed TMEM237
Thoracic dystrophies TMEM231 Hannah Mitchison reviewed TMEM231
Thoracic dystrophies TMEM216 Hannah Mitchison reviewed TMEM216
Thoracic dystrophies TMEM138 Hannah Mitchison reviewed TMEM138
Thoracic dystrophies TMEM107 Hannah Mitchison reviewed TMEM107
Thoracic dystrophies TCTN2 Hannah Mitchison reviewed TCTN2
Thoracic dystrophies TCTN1 Hannah Mitchison reviewed TCTN1
Thoracic dystrophies TCTEX1D2 Hannah Mitchison reviewed TCTEX1D2
Thoracic dystrophies TBC1D32 Hannah Mitchison reviewed TBC1D32
Thoracic dystrophies SPATA7 Hannah Mitchison reviewed SPATA7
Thoracic dystrophies SDCCAG8 Hannah Mitchison reviewed SDCCAG8
Thoracic dystrophies SCNN1G Hannah Mitchison reviewed SCNN1G
Thoracic dystrophies SCNN1B Hannah Mitchison reviewed SCNN1B
Thoracic dystrophies SCNN1A Hannah Mitchison reviewed SCNN1A
Thoracic dystrophies SCLT1 Hannah Mitchison reviewed SCLT1
Thoracic dystrophies RSPH9 Hannah Mitchison reviewed RSPH9
Thoracic dystrophies RSPH4A Hannah Mitchison reviewed RSPH4A
Thoracic dystrophies RPGRIP1L Hannah Mitchison reviewed RPGRIP1L
Thoracic dystrophies RPGRIP1 Hannah Mitchison reviewed RPGRIP1
Thoracic dystrophies RPGR Hannah Mitchison reviewed RPGR
Thoracic dystrophies RPE65 Hannah Mitchison reviewed RPE65
Thoracic dystrophies RDH12 Hannah Mitchison reviewed RDH12
Thoracic dystrophies RD3 Hannah Mitchison reviewed RD3
Thoracic dystrophies PKHD1 Hannah Mitchison reviewed PKHD1
Thoracic dystrophies PKD2 Hannah Mitchison reviewed PKD2
Thoracic dystrophies PCDH15 Hannah Mitchison reviewed PCDH15
Thoracic dystrophies OFD1 Hannah Mitchison reviewed OFD1
Thoracic dystrophies NPHP4 Hannah Mitchison reviewed NPHP4
Thoracic dystrophies NPHP3 Hannah Mitchison reviewed NPHP3
Thoracic dystrophies NPHP1 Hannah Mitchison reviewed NPHP1
Thoracic dystrophies NODAL Hannah Mitchison reviewed NODAL
Thoracic dystrophies NME8 Hannah Mitchison reviewed NME8
Thoracic dystrophies NKX2-5 Hannah Mitchison reviewed NKX2-5
Thoracic dystrophies NEK8 Hannah Mitchison reviewed NEK8
Thoracic dystrophies MYO7A Hannah Mitchison reviewed MYO7A
Thoracic dystrophies MKS1 Hannah Mitchison reviewed MKS1
Thoracic dystrophies MKKS Hannah Mitchison reviewed MKKS
Thoracic dystrophies LRAT Hannah Mitchison reviewed LRAT
Thoracic dystrophies LEFTY2 Hannah Mitchison reviewed LEFTY2
Thoracic dystrophies LCA5 Hannah Mitchison reviewed LCA5
Thoracic dystrophies KIF7 Hannah Mitchison reviewed KIF7
Thoracic dystrophies KIAA0586 Hannah Mitchison reviewed KIAA0586
Thoracic dystrophies KCNJ13 Hannah Mitchison reviewed KCNJ13
Thoracic dystrophies IQCB1 Hannah Mitchison reviewed IQCB1
Thoracic dystrophies INVS Hannah Mitchison reviewed INVS
Thoracic dystrophies INTU Hannah Mitchison reviewed INTU
Thoracic dystrophies IMPDH1 Hannah Mitchison reviewed IMPDH1
Thoracic dystrophies IFT81 Hannah Mitchison reviewed IFT81
Thoracic dystrophies IFT52 Hannah Mitchison reviewed IFT52
Thoracic dystrophies IFT172 Hannah Mitchison reviewed IFT172
Thoracic dystrophies IFT140 Hannah Mitchison edited their review of IFT140
Thoracic dystrophies IFT122 Hannah Mitchison reviewed IFT122
Thoracic dystrophies IFT43 Hannah Mitchison reviewed IFT43
Thoracic dystrophies ICK Hannah Mitchison reviewed ICK
Thoracic dystrophies HYLS1 Hannah Mitchison reviewed HYLS1
Thoracic dystrophies GUCY2D Hannah Mitchison reviewed GUCY2D
Thoracic dystrophies GLIS2 Hannah Mitchison reviewed GLIS2
Thoracic dystrophies GDF1 Hannah Mitchison reviewed GDF1
Thoracic dystrophies FOXH1 Hannah Mitchison reviewed FOXH1
Thoracic dystrophies DYNC2LI1 Hannah Mitchison reviewed DYNC2LI1
Thoracic dystrophies DNAL1 Hannah Mitchison reviewed DNAL1
Thoracic dystrophies DNAI2 Hannah Mitchison reviewed DNAI2
Thoracic dystrophies DNAI1 Hannah Mitchison reviewed DNAI1
Thoracic dystrophies DNAH5 Hannah Mitchison reviewed DNAH5
Thoracic dystrophies DNAH11 Hannah Mitchison reviewed DNAH11
Thoracic dystrophies DNAAF3 Hannah Mitchison reviewed DNAAF3
Thoracic dystrophies DNAAF2 Hannah Mitchison reviewed DNAAF2
Thoracic dystrophies DNAAF1 Hannah Mitchison reviewed DNAAF1
Thoracic dystrophies DFNB31 Hannah Mitchison reviewed DFNB31
Thoracic dystrophies DDX59 Hannah Mitchison reviewed DDX59
Thoracic dystrophies CSPP1 Hannah Mitchison reviewed CSPP1
Thoracic dystrophies CRX Hannah Mitchison reviewed CRX
Thoracic dystrophies CRELD1 Hannah Mitchison reviewed CRELD1
Thoracic dystrophies CRB1 Hannah Mitchison reviewed CRB1
Thoracic dystrophies CLRN1 Hannah Mitchison reviewed CLRN1
Thoracic dystrophies CFTR Hannah Mitchison reviewed CFTR
Thoracic dystrophies CEP41 Hannah Mitchison reviewed CEP41
Thoracic dystrophies CEP290 Hannah Mitchison reviewed CEP290
Thoracic dystrophies CEP164 Hannah Mitchison reviewed CEP164
Thoracic dystrophies CEP120 Hannah Mitchison reviewed CEP120
Thoracic dystrophies CDH23 Hannah Mitchison reviewed CDH23
Thoracic dystrophies CCDC40 Hannah Mitchison reviewed CCDC40
Thoracic dystrophies CCDC39 Hannah Mitchison reviewed CCDC39
Thoracic dystrophies CCDC28B Hannah Mitchison reviewed CCDC28B
Thoracic dystrophies CC2D2A Hannah Mitchison reviewed CC2D2A
Thoracic dystrophies C5orf42 Hannah Mitchison reviewed C5orf42
Thoracic dystrophies C2CD3 Hannah Mitchison reviewed C2CD3
Thoracic dystrophies C2orf71 Hannah Mitchison reviewed C2orf71
Thoracic dystrophies BBS9 Hannah Mitchison reviewed BBS9
Thoracic dystrophies BBS7 Hannah Mitchison reviewed BBS7
Thoracic dystrophies BBS5 Hannah Mitchison reviewed BBS5
Thoracic dystrophies BBS4 Hannah Mitchison reviewed BBS4
Thoracic dystrophies BBS2 Hannah Mitchison reviewed BBS2
Thoracic dystrophies BBS12 Hannah Mitchison reviewed BBS12
Thoracic dystrophies BBS10 Hannah Mitchison reviewed BBS10
Thoracic dystrophies BBS1 Hannah Mitchison reviewed BBS1
Thoracic dystrophies B9D2 Hannah Mitchison reviewed B9D2
Thoracic dystrophies B9D1 Hannah Mitchison reviewed B9D1
Thoracic dystrophies ATXN10 Hannah Mitchison reviewed ATXN10
Thoracic dystrophies ARL6 Hannah Mitchison reviewed ARL6
Thoracic dystrophies ARL13B Hannah Mitchison reviewed ARL13B
Thoracic dystrophies AIPL1 Hannah Mitchison reviewed AIPL1
Thoracic dystrophies AHI1 Hannah Mitchison reviewed AHI1
Thoracic dystrophies ADGRV1 Hannah Mitchison reviewed ADGRV1
Thoracic dystrophies ACVR2B Hannah Mitchison reviewed ACVR2B
Thoracic dystrophies IFT80 Hannah Mitchison reviewed IFT80
Thoracic dystrophies IFT140 Hannah Mitchison reviewed IFT140
Thoracic dystrophies C21orf2 Hannah Mitchison reviewed C21orf2
Thoracic dystrophies WDR35IFT121 Hannah Mitchison reviewed WDR35IFT121*
Thoracic dystrophies WDR19IFT144 Hannah Mitchison reviewed WDR19IFT144*
Thoracic dystrophies TTC21BIFT139 Hannah Mitchison reviewed TTC21BIFT139*
Thoracic dystrophies NEK1 Hannah Mitchison reviewed NEK1
Thoracic dystrophies DYNC2H1 Hannah Mitchison reviewed DYNC2H1
Thoracic dystrophies EVC2 Hannah Mitchison reviewed EVC2
Thoracic dystrophies EVC Hannah Mitchison reviewed EVC
Neurotransmitter disorders DDC Louise Daugherty classified DDC as green
Neonatal diabetes LRBA Rebecca Foulger marked LRBA as ready
Neonatal diabetes LRBA Rebecca Foulger classified LRBA as red
Neonatal diabetes LRBA Rebecca Foulger commented on LRBA
Neurotransmitter disorders DDC Louise Daugherty commented on DDC
Neonatal diabetes AGPAT2 Rebecca Foulger marked AGPAT2 as ready
Neonatal diabetes AGPAT2 Rebecca Foulger classified AGPAT2 as red
Neonatal diabetes IL2RA Rebecca Foulger commented on IL2RA
Neurotransmitter disorders DBH Louise Daugherty edited their review of DBH
Neurotransmitter disorders DBH Louise Daugherty classified DBH as green
Undiagnosed metabolic disorders DBH Louise Daugherty commented on DBH
Neurotransmitter disorders DBH Louise Daugherty commented on DBH
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty edited their review of SMAD4
Hereditary ataxia ATXN8 Arianna Tucci edited their review of ATXN8
Hereditary ataxia ATXN8 Arianna Tucci added ATXN8 to panel
Hereditary ataxia ATXN8 Arianna Tucci reviewed ATXN8
Early onset dementia (encompassing fronto-temporal dementia and prion disease) JPH3 Arianna Tucci added JPH3 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) JPH3 Arianna Tucci reviewed JPH3
Parkinson Disease and Complex Parkinsonism JPH3 Arianna Tucci added JPH3 to panel
Parkinson Disease and Complex Parkinsonism JPH3 Arianna Tucci reviewed JPH3
Neonatal diabetes NEUROG3 Rebecca Foulger commented on NEUROG3
Radial dysplasia Rebecca Foulger promoted panel to version 1
Hydrocephalus ZIC3 Helen Brittain marked ZIC3 as ready
Hydrocephalus ZIC3 Helen Brittain classified ZIC3 as green
Hydrocephalus COL4A1 Helen Brittain marked COL4A1 as ready
Hydrocephalus PIK3CA Helen Brittain marked PIK3CA as ready
Hydrocephalus AKT3 Helen Brittain marked AKT3 as ready
Hydrocephalus SUMF1 Helen Brittain marked SUMF1 as ready
Hydrocephalus SUMF1 Helen Brittain classified SUMF1 as green
Hydrocephalus MAN2B1 Helen Brittain marked MAN2B1 as ready
Hydrocephalus MAN2B1 Helen Brittain classified MAN2B1 as green
Hydrocephalus GFAP Helen Brittain marked GFAP as ready
Radial dysplasia ZIC3 Helen Brittain classified ZIC3 as green
Undiagnosed metabolic disorders C10orf2 Louise Daugherty commented on C10orf2
Undiagnosed metabolic disorders C10orf2 Louise Daugherty commented on C10orf2
Primary ovarian insufficiency C10orf2 Arianna Tucci marked C10orf2 as ready
Primary ovarian insufficiency MCM9 Arianna Tucci marked MCM9 as ready
Primary ovarian insufficiency MCM9 Arianna Tucci classified MCM9 as green
Primary ovarian insufficiency MCM8 Arianna Tucci marked MCM8 as ready
Primary ovarian insufficiency MCM8 Arianna Tucci classified MCM8 as green
Primary ovarian insufficiency LMNA Arianna Tucci marked LMNA as ready
Primary ovarian insufficiency LMNA Arianna Tucci classified LMNA as amber
Primary ovarian insufficiency FSHB Arianna Tucci marked FSHB as ready
Primary ovarian insufficiency FSHB Arianna Tucci classified FSHB as green
Primary ovarian insufficiency LARS2 Arianna Tucci marked LARS2 as ready
Primary ovarian insufficiency LARS2 Arianna Tucci classified LARS2 as green
Primary ovarian insufficiency HSD17B4 Arianna Tucci marked HSD17B4 as ready
Primary ovarian insufficiency HSD17B4 Arianna Tucci classified HSD17B4 as green
Primary ovarian insufficiency HFM1 Arianna Tucci marked HFM1 as ready
Primary ovarian insufficiency HFM1 Arianna Tucci classified HFM1 as green
Primary ovarian insufficiency HARS2 Arianna Tucci marked HARS2 as ready
Primary ovarian insufficiency HARS2 Arianna Tucci classified HARS2 as amber
Primary ovarian insufficiency GALT Arianna Tucci marked GALT as ready
Primary ovarian insufficiency GALT Arianna Tucci classified GALT as green
Primary ovarian insufficiency FOXO4 Arianna Tucci marked FOXO4 as ready
Primary ovarian insufficiency EIF4ENIF1 Arianna Tucci marked EIF4ENIF1 as ready
Primary ovarian insufficiency EIF4ENIF1 Arianna Tucci classified EIF4ENIF1 as amber
Primary ovarian insufficiency DIAPH2 Arianna Tucci marked DIAPH2 as ready
Primary ovarian insufficiency DIAPH2 Arianna Tucci classified DIAPH2 as amber
Primary ovarian insufficiency DIAPH2 Arianna Tucci classified DIAPH2 as amber
Primary ovarian insufficiency DACH2 Arianna Tucci marked DACH2 as ready
Primary ovarian insufficiency DACH2 Arianna Tucci classified DACH2 as amber
Primary ovarian insufficiency CLPP Arianna Tucci marked CLPP as ready
Primary ovarian insufficiency CLPP Arianna Tucci classified CLPP as green
Primary ovarian insufficiency C10orf2 Arianna Tucci marked C10orf2 as ready
Primary ovarian insufficiency C10orf2 Arianna Tucci classified C10orf2 as green
Primary ovarian insufficiency BMPR1B-AS1 Arianna Tucci marked BMPR1B-AS1 as ready
Primary ovarian insufficiency BMPR1B-AS1 Arianna Tucci classified BMPR1B-AS1 as amber
Primary ovarian insufficiency AARS2 Arianna Tucci marked AARS2 as ready
Primary ovarian insufficiency AARS2 Arianna Tucci classified AARS2 as green
Primary ovarian insufficiency POF1B Arianna Tucci marked POF1B as ready
Primary ovarian insufficiency POF1B Arianna Tucci classified POF1B as amber
Primary ovarian insufficiency NOBOX Arianna Tucci marked NOBOX as ready
Primary ovarian insufficiency NOBOX Arianna Tucci classified NOBOX as green
Primary ovarian insufficiency FSHR Arianna Tucci marked FSHR as ready
Primary ovarian insufficiency FSHR Arianna Tucci classified FSHR as green
Primary ovarian insufficiency FOXL2 Arianna Tucci marked FOXL2 as ready
Primary ovarian insufficiency FOXL2 Arianna Tucci classified FOXL2 as green
Primary ovarian insufficiency FOXL2 Arianna Tucci classified FOXL2 as green
Primary ovarian insufficiency FMR1 Arianna Tucci marked FMR1 as ready
Primary ovarian insufficiency FMR1 Arianna Tucci classified FMR1 as red
Primary ovarian insufficiency FMR1 Arianna Tucci classified FMR1 as amber
Primary ovarian insufficiency FIGLA Arianna Tucci marked FIGLA as ready
Primary ovarian insufficiency BMP15 Arianna Tucci marked BMP15 as ready
Primary ovarian insufficiency BMP15 Arianna Tucci classified BMP15 as green
Primary ovarian insufficiency HSD17B4 Arianna Tucci added HSD17B4 to panel
Primary ovarian insufficiency HSD17B4 Arianna Tucci reviewed HSD17B4
Primary ovarian insufficiency CLPP Arianna Tucci added CLPP to panel
Primary ovarian insufficiency CLPP Arianna Tucci reviewed CLPP
Primary ovarian insufficiency AARS2 Arianna Tucci added AARS2 to panel
Primary ovarian insufficiency AARS2 Arianna Tucci reviewed AARS2
Primary ovarian insufficiency HARS2 Arianna Tucci added HARS2 to panel
Primary ovarian insufficiency HARS2 Arianna Tucci reviewed HARS2
Primary ovarian insufficiency LARS2 Arianna Tucci added LARS2 to panel
Primary ovarian insufficiency LARS2 Arianna Tucci reviewed LARS2
Primary ovarian insufficiency C10orf2 Arianna Tucci added C10orf2 to panel
Primary ovarian insufficiency C10orf2 Arianna Tucci reviewed C10orf2
Primary ovarian insufficiency POLG Arianna Tucci added POLG to panel
Primary ovarian insufficiency POLG Arianna Tucci reviewed POLG
Ehlers Danlos syndrome with a likely monogenic cause ATP6V1A Ellen Thomas added ATP6V1A to panel
Ehlers Danlos syndrome with a likely monogenic cause ATP6V1A Ellen Thomas reviewed ATP6V1A
Primary ovarian insufficiency FSHB Arianna Tucci added FSHB to panel
Primary ovarian insufficiency FSHB Arianna Tucci reviewed FSHB
Familial Hirschsprung Disease ZEB2 Rebecca Foulger commented on ZEB2
Inherited non-medullary thyroid cancer WRN Sarah Leigh edited their review of WRN
Inherited non-medullary thyroid cancer WRN Sarah Leigh added WRN to panel
Inherited non-medullary thyroid cancer WRN Sarah Leigh reviewed WRN
Familial non syndromic congenital heart disease TBX5 Rebecca Foulger commented on TBX5
Primary ovarian insufficiency BMPR1B-AS1 Arianna Tucci added BMPR1B-AS1 to panel
Primary ovarian insufficiency BMPR1B-AS1 Arianna Tucci reviewed BMPR1B-AS1
Skeletal dysplasia TCTEX1D2 Helen Brittain marked TCTEX1D2 as ready
Skeletal dysplasia TCTEX1D2 Helen Brittain classified TCTEX1D2 as green
Skeletal dysplasia TCTEX1D2 Helen Brittain added TCTEX1D2 to panel
Skeletal dysplasia TCTEX1D2 Helen Brittain reviewed TCTEX1D2
Anophthalmia or microphthalmia TMEM98 Owen Siggs added TMEM98 to panel
Anophthalmia or microphthalmia TMEM98 Owen Siggs reviewed TMEM98
Periodic fever syndromes TNFAIP3 Owen Siggs added TNFAIP3 to panel
Periodic fever syndromes TNFAIP3 Owen Siggs reviewed TNFAIP3
Infantile enterocolitis & monogenic inflammatory bowel disease OTULIN Owen Siggs added OTULIN to panel
Infantile enterocolitis & monogenic inflammatory bowel disease OTULIN Owen Siggs reviewed OTULIN
Periodic fever syndromes OTULIN Owen Siggs added OTULIN to panel
Periodic fever syndromes OTULIN Owen Siggs reviewed OTULIN
Infantile enterocolitis & monogenic inflammatory bowel disease CTLA4 Owen Siggs reviewed CTLA4
Anophthalmia or microphthalmia PRSS56 Owen Siggs reviewed PRSS56
Bilateral congenital or childhood onset cataracts CRYBB1 Owen Siggs reviewed CRYBB1
Glaucoma (developmental) CYP1B1 Owen Siggs reviewed CYP1B1
Intellectual disability OCLN Rebecca Foulger classified OCLN as green
Intellectual disability OCLN Rebecca Foulger edited their review of OCLN
Multi-organ autoimmune diabetes CTLA4 Owen Siggs added CTLA4 to panel
Multi-organ autoimmune diabetes CTLA4 Owen Siggs reviewed CTLA4
Familial Hirschsprung Disease SAMD9 Helen Brittain added SAMD9 to panel
Familial Hirschsprung Disease SAMD9 Helen Brittain reviewed SAMD9
Gastrointestinal neuromuscular disorders SAMD9 Helen Brittain marked SAMD9 as ready
Gastrointestinal neuromuscular disorders SAMD9 Helen Brittain classified SAMD9 as green
Gastrointestinal neuromuscular disorders SAMD9 Helen Brittain added SAMD9 to panel
Gastrointestinal neuromuscular disorders SAMD9 Helen Brittain reviewed SAMD9
Infantile enterocolitis & monogenic inflammatory bowel disease SAMD9 Helen Brittain marked SAMD9 as ready
Infantile enterocolitis & monogenic inflammatory bowel disease SAMD9 Helen Brittain classified SAMD9 as green
Infantile enterocolitis & monogenic inflammatory bowel disease SAMD9 Helen Brittain added SAMD9 to panel
Infantile enterocolitis & monogenic inflammatory bowel disease SAMD9 Helen Brittain reviewed SAMD9
Intellectual disability SAMD9 Helen Brittain marked SAMD9 as ready
Intellectual disability SAMD9 Helen Brittain classified SAMD9 as green
Intellectual disability SAMD9 Helen Brittain added SAMD9 to panel
Intellectual disability SAMD9 Helen Brittain reviewed SAMD9
Differences in sex development SAMD9 Helen Brittain marked SAMD9 as ready
Differences in sex development SAMD9 Helen Brittain classified SAMD9 as green
Differences in sex development SAMD9 Helen Brittain added SAMD9 to panel
Differences in sex development SAMD9 Helen Brittain reviewed SAMD9
IUGR and IGF abnormalities SAMD9 Helen Brittain marked SAMD9 as ready
IUGR and IGF abnormalities SAMD9 Helen Brittain classified SAMD9 as green
IUGR and IGF abnormalities SAMD9 Helen Brittain added SAMD9 to panel
IUGR and IGF abnormalities SAMD9 Helen Brittain reviewed SAMD9
Cytopenias and congenital anaemias SAMD9 Helen Brittain marked SAMD9 as ready
Cytopenias and congenital anaemias SAMD9 Helen Brittain classified SAMD9 as green
Cytopenias and congenital anaemias SAMD9 Helen Brittain added SAMD9 to panel
Cytopenias and congenital anaemias SAMD9 Helen Brittain reviewed SAMD9
Congenital adrenal hypoplasia SAMD9 Helen Brittain classified SAMD9 as green
Congenital adrenal hypoplasia SAMD9 Helen Brittain marked SAMD9 as ready
Congenital adrenal hypoplasia SAMD9 Helen Brittain added SAMD9 to panel
Congenital adrenal hypoplasia SAMD9 Helen Brittain reviewed SAMD9
Intellectual disability DNAJC12 Rebecca Foulger added DNAJC12 to panel
Intellectual disability DNAJC12 Rebecca Foulger reviewed DNAJC12
Undiagnosed metabolic disorders DNAJC12 Rebecca Foulger classified DNAJC12 as green
Undiagnosed metabolic disorders DNAJC12 Rebecca Foulger classified DNAJC12 as green
Undiagnosed metabolic disorders DNAJC12 Rebecca Foulger added DNAJC12 to panel
Undiagnosed metabolic disorders DNAJC12 Rebecca Foulger reviewed DNAJC12
GI tract tumours Sarah Leigh promoted panel to version 1
GI tract tumours PTPN12 Sarah Leigh commented on PTPN12
GI tract tumours SMAD4 Sarah Leigh commented on SMAD4
GI tract tumours PTEN Sarah Leigh commented on PTEN
GI tract tumours NTHL1 Sarah Leigh commented on NTHL1
GI tract tumours MSH2 Sarah Leigh commented on MSH2
Ehlers Danlos syndrome with a likely monogenic cause FLCN Louise Daugherty classified FLCN as green
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty edited their review of ATP7A
Thoracic aortic aneurysm or dissection PKD1 Louise Daugherty commented on PKD1
Ehlers Danlos syndrome with a likely monogenic cause FLCN Louise Daugherty classified FLCN as grey
Thoracic aortic aneurysm or dissection FLCN Louise Daugherty added FLCN to panel
Thoracic aortic aneurysm or dissection FLCN Louise Daugherty reviewed FLCN
Radial dysplasia ZIC3 Helen Brittain marked ZIC3 as ready
Radial dysplasia ZIC3 Helen Brittain classified ZIC3 as amber
Radial dysplasia WNT7A Helen Brittain marked WNT7A as ready
Radial dysplasia WNT7A Helen Brittain classified WNT7A as green
Radial dysplasia WNT7A Helen Brittain commented on WNT7A
Radial dysplasia UBE2T Helen Brittain marked UBE2T as ready
Radial dysplasia UBE2T Helen Brittain commented on UBE2T
Radial dysplasia UBE2T Helen Brittain classified UBE2T as green
Radial dysplasia TBX3 Helen Brittain marked TBX3 as ready
Radial dysplasia TBX3 Helen Brittain classified TBX3 as green
Radial dysplasia TBX3 Helen Brittain commented on TBX3
Ectodermal dysplasia without a known gene mutation KREMEN1 Rebecca Foulger classified KREMEN1 as red
Radial dysplasia SMC3 Helen Brittain marked SMC3 as ready
Radial dysplasia SMC3 Helen Brittain commented on SMC3
Radial dysplasia SMC3 Helen Brittain classified SMC3 as green
Ectodermal dysplasia without a known gene mutation KREMEN1 Rebecca Foulger added KREMEN1 to panel
Ectodermal dysplasia without a known gene mutation KREMEN1 Rebecca Foulger reviewed KREMEN1
Radial dysplasia SHOX Helen Brittain marked SHOX as ready
Radial dysplasia SHOX Helen Brittain commented on SHOX
Radial dysplasia SHOX Helen Brittain classified SHOX as green
Radial dysplasia SF3B4 Helen Brittain commented on SF3B4
Radial dysplasia SF3B4 Helen Brittain marked SF3B4 as ready
Radial dysplasia SF3B4 Helen Brittain classified SF3B4 as green
Radial dysplasia SAMD9 Helen Brittain marked SAMD9 as ready
Radial dysplasia SALL1 Helen Brittain marked SALL1 as ready
Radial dysplasia SALL1 Helen Brittain commented on SALL1
Radial dysplasia SALL1 Helen Brittain classified SALL1 as green
Radial dysplasia RPS7 Helen Brittain commented on RPS7
Radial dysplasia RPS7 Helen Brittain marked RPS7 as ready
Radial dysplasia RPS7 Helen Brittain classified RPS7 as green
Radial dysplasia RPS29 Helen Brittain marked RPS29 as ready
Radial dysplasia RPS29 Helen Brittain commented on RPS29
Radial dysplasia RPS29 Helen Brittain classified RPS29 as amber
Radial dysplasia RPS26 Helen Brittain commented on RPS26
Radial dysplasia RPS26 Helen Brittain marked RPS26 as ready
Radial dysplasia RPS26 Helen Brittain classified RPS26 as green
Radial dysplasia RPS24 Helen Brittain marked RPS24 as ready
Radial dysplasia RPS24 Helen Brittain commented on RPS24
Radial dysplasia RPS24 Helen Brittain classified RPS24 as green
Radial dysplasia RPS19 Helen Brittain marked RPS19 as ready
Radial dysplasia RPS19 Helen Brittain commented on RPS19
Radial dysplasia RPS19 Helen Brittain classified RPS19 as green
Radial dysplasia RPS17 Helen Brittain marked RPS17 as ready
Radial dysplasia RPS17 Helen Brittain classified RPS17 as green
Radial dysplasia RPS10 Helen Brittain commented on RPS10
Radial dysplasia RPS10 Helen Brittain marked RPS10 as ready
Radial dysplasia RPS10 Helen Brittain classified RPS10 as green
Radial dysplasia RPL5 Helen Brittain marked RPL5 as ready
Radial dysplasia RPL5 Helen Brittain commented on RPL5
Radial dysplasia RPL5 Helen Brittain classified RPL5 as green
Radial dysplasia RPL35A Helen Brittain marked RPL35A as ready
Radial dysplasia RPL35A Helen Brittain classified RPL35A as green
Radial dysplasia RPL35A Helen Brittain commented on RPL35A
Radial dysplasia RPL26 Helen Brittain marked RPL26 as ready
Radial dysplasia RPL26 Helen Brittain commented on RPL26
Radial dysplasia RPL26 Helen Brittain classified RPL26 as amber
Radial dysplasia RPL15 Helen Brittain marked RPL15 as ready
Radial dysplasia RPL15 Helen Brittain commented on RPL15
Radial dysplasia RPL15 Helen Brittain classified RPL15 as amber
Radial dysplasia RPL11 Helen Brittain marked RPL11 as ready
Radial dysplasia RPL11 Helen Brittain commented on RPL11
Radial dysplasia RPL11 Helen Brittain classified RPL11 as green
Radial dysplasia PUF60 Helen Brittain marked PUF60 as ready
Radial dysplasia PUF60 Helen Brittain commented on PUF60
Radial dysplasia PTEN Helen Brittain marked PTEN as ready
Radial dysplasia PTEN Helen Brittain classified PTEN as amber
Radial dysplasia PITX1 Helen Brittain marked PITX1 as ready
Radial dysplasia PITX1 Helen Brittain commented on PITX1
Skeletal dysplasia POP1 Rebecca Foulger classified POP1 as green
Skeletal dysplasia POP1 Rebecca Foulger classified POP1 as green
Skeletal dysplasia POP1 Rebecca Foulger commented on POP1
Skeletal dysplasia POP1 Rebecca Foulger commented on POP1
Skeletal dysplasia POP1 Rebecca Foulger edited their review of POP1
Radial dysplasia SMC1A Helen Brittain marked SMC1A as ready
Radial dysplasia SMC1A Helen Brittain commented on SMC1A
Radial dysplasia SMC1A Helen Brittain classified SMC1A as green
Radial dysplasia RAD21 Helen Brittain marked RAD21 as ready
Radial dysplasia RAD21 Helen Brittain classified RAD21 as amber
Radial dysplasia RAD21 Helen Brittain commented on RAD21
Radial dysplasia NIPBL Helen Brittain marked NIPBL as ready
Radial dysplasia NIPBL Helen Brittain commented on NIPBL
Radial dysplasia NIPBL Helen Brittain classified NIPBL as green
Radial dysplasia KCNH1 Helen Brittain marked KCNH1 as ready
Radial dysplasia KCNH1 Helen Brittain classified KCNH1 as green
Radial dysplasia HDAC8 Helen Brittain marked HDAC8 as ready
Radial dysplasia HDAC8 Helen Brittain commented on HDAC8
Radial dysplasia HDAC8 Helen Brittain classified HDAC8 as green
Radial dysplasia FLNA Helen Brittain marked FLNA as ready
Radial dysplasia FLNA Helen Brittain classified FLNA as green
Radial dysplasia FLNA Helen Brittain commented on FLNA
Thoracic dystrophies TCTEX1D2 Rebecca Foulger classified TCTEX1D2 as red
Ehlers Danlos syndrome with a likely monogenic cause MED12 Louise Daugherty classified MED12 as grey
Thoracic dystrophies TCTEX1D2 Rebecca Foulger commented on TCTEX1D2
Thoracic dystrophies TCTEX1D2 Rebecca Foulger commented on TCTEX1D2
Ehlers Danlos syndrome with a likely monogenic cause CBS Louise Daugherty commented on CBS
Thoracic dystrophies TCTEX1D2 Rebecca Foulger added TCTEX1D2 to panel
Thoracic dystrophies TCTEX1D2 Rebecca Foulger reviewed TCTEX1D2
Radial dysplasia FIG4 Helen Brittain marked FIG4 as ready
Radial dysplasia FIG4 Helen Brittain commented on FIG4
Radial dysplasia FIG4 Helen Brittain classified FIG4 as green
Radial dysplasia FGFR3 Helen Brittain commented on FGFR3
Radial dysplasia FGFR3 Helen Brittain marked FGFR3 as ready
Radial dysplasia FGFR3 Helen Brittain classified FGFR3 as green
Radial dysplasia FGFR2 Helen Brittain marked FGFR2 as ready
Radial dysplasia FGFR2 Helen Brittain commented on FGFR2
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty classified ATP7A as green
Radial dysplasia FGFR2 Helen Brittain classified FGFR2 as green
Radial dysplasia FGF10 Helen Brittain marked FGF10 as ready
Radial dysplasia FGF10 Helen Brittain commented on FGF10
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty commented on ATP7A
Radial dysplasia FGF10 Helen Brittain classified FGF10 as green
Radial dysplasia FANCM Helen Brittain marked FANCM as ready
Radial dysplasia ESCO2 Helen Brittain marked ESCO2 as ready
Ehlers Danlos syndrome with a likely monogenic cause RIN2 Louise Daugherty classified RIN2 as green
Radial dysplasia ESCO2 Helen Brittain classified ESCO2 as green
Radial dysplasia ESCO2 Helen Brittain commented on ESCO2
Radial dysplasia CREBBP Helen Brittain marked CREBBP as ready
Radial dysplasia CREBBP Helen Brittain commented on CREBBP
Primary ovarian insufficiency PMM2 Arianna Tucci added PMM2 to panel
Primary ovarian insufficiency PMM2 Arianna Tucci reviewed PMM2
Intellectual disability OCLN Rebecca Foulger commented on OCLN
Primary ovarian insufficiency GALT Arianna Tucci added GALT to panel
Primary ovarian insufficiency GALT Arianna Tucci reviewed GALT
Cytopenias and congenital anaemias USP18 Rebecca Foulger commented on USP18
Cytopenias and congenital anaemias USP18 Rebecca Foulger classified USP18 as red
Cytopenias and congenital anaemias USP18 Rebecca Foulger added USP18 to panel
Cytopenias and congenital anaemias USP18 Rebecca Foulger reviewed USP18
Radial dysplasia SALL4 Helen Brittain marked SALL4 as ready
Radial dysplasia SALL4 Helen Brittain commented on SALL4
Radial dysplasia SALL4 Helen Brittain classified SALL4 as green
Radial dysplasia RECQL4 Helen Brittain marked RECQL4 as ready
Radial dysplasia RECQL4 Helen Brittain commented on RECQL4
Radial dysplasia RECQL4 Helen Brittain classified RECQL4 as green
GI tract tumours GREM1 Ellen McDonagh commented on GREM1
Radial dysplasia LMBR1 Helen Brittain marked LMBR1 as ready
Radial dysplasia LMBR1 Helen Brittain commented on LMBR1
GI tract tumours EPCAM Ellen McDonagh commented on EPCAM
Radial dysplasia LMBR1 Helen Brittain classified LMBR1 as green
GI tract tumours CDH1 Ellen McDonagh classified CDH1 as amber
Radial dysplasia ERCC4 Helen Brittain marked ERCC4 as ready
Primary ovarian insufficiency DACH2 Arianna Tucci edited their review of DACH2
Radial dysplasia ERCC4 Helen Brittain classified ERCC4 as green
GI tract tumours Ellen McDonagh approved panel
Radial dysplasia TBX5 Helen Brittain marked TBX5 as ready
Primary ovarian insufficiency DACH2 Arianna Tucci added DACH2 to panel
Primary ovarian insufficiency DACH2 Arianna Tucci reviewed DACH2
Radial dysplasia SLX4 Helen Brittain marked SLX4 as ready
Radial dysplasia RBM8A Helen Brittain marked RBM8A as ready
Radial dysplasia RAD51C Helen Brittain marked RAD51C as ready
Hereditary spastic paraplegia DSTYK Rebecca Foulger commented on DSTYK
Hereditary spastic paraplegia DSTYK Rebecca Foulger commented on DSTYK
Radial dysplasia RAD51C Helen Brittain classified RAD51C as amber
Radial dysplasia PALB2 Helen Brittain marked PALB2 as ready
Hereditary spastic paraplegia DSTYK Rebecca Foulger added DSTYK to panel
Hereditary spastic paraplegia DSTYK Rebecca Foulger reviewed DSTYK
Primary ovarian insufficiency FOXO4 Arianna Tucci added FOXO4 to panel
Primary ovarian insufficiency FOXO4 Arianna Tucci reviewed FOXO4
Radial dysplasia HOXA13 Helen Brittain commented on HOXA13
Radial dysplasia HOXA13 Helen Brittain reviewed HOXA13
Radial dysplasia FANCL Helen Brittain marked FANCL as ready
Radial dysplasia FANCI Helen Brittain marked FANCI as ready
Radial dysplasia FANCG Helen Brittain marked FANCG as ready
Radial dysplasia FANCF Helen Brittain marked FANCF as ready
Radial dysplasia FANCE Helen Brittain marked FANCE as ready
Primary ovarian insufficiency PGRMC1 Arianna Tucci added PGRMC1 to panel
Primary ovarian insufficiency PGRMC1 Arianna Tucci reviewed PGRMC1
Radial dysplasia FANCD2 Helen Brittain marked FANCD2 as ready
Dilated Cardiomyopathy and conduction defects TMPO Rebecca Foulger classified TMPO as red
Dilated Cardiomyopathy and conduction defects TMPO Rebecca Foulger commented on TMPO
Radial dysplasia FANCC Helen Brittain marked FANCC as ready
Radial dysplasia FANCB Helen Brittain marked FANCB as ready
Radial dysplasia FANCB Helen Brittain commented on FANCB
Radial dysplasia FANCA Helen Brittain marked FANCA as ready
Radial dysplasia BRIP1 Helen Brittain marked BRIP1 as ready
Radial dysplasia BRCA2 Helen Brittain marked BRCA2 as ready
Intellectual disability NACC1 Rebecca Foulger commented on NACC1
Radial dysplasia ZIC3 Helen Brittain reviewed ZIC3
Primary ovarian insufficiency STAG3 Arianna Tucci reviewed STAG3
Intellectual disability NACC1 Rebecca Foulger classified NACC1 as green
Intellectual disability NACC1 Rebecca Foulger commented on NACC1
Radial dysplasia SAMD9 Helen Brittain reviewed SAMD9
Primary ovarian insufficiency PSMC3IP Arianna Tucci reviewed PSMC3IP
Intellectual disability NACC1 Rebecca Foulger added NACC1 to panel
Intellectual disability NACC1 Rebecca Foulger reviewed NACC1
Radial dysplasia KCNH1 Helen Brittain reviewed KCNH1
Rare multisystem ciliopathy disorders C8orf37 Rebecca Foulger commented on C8orf37
Primary ovarian insufficiency NR5A1 Arianna Tucci reviewed NR5A1
Rare multisystem ciliopathy disorders C8orf37 Rebecca Foulger commented on C8orf37
Rare multisystem ciliopathy disorders C8orf37 Rebecca Foulger added C8orf37 to panel
Rare multisystem ciliopathy disorders C8orf37 Rebecca Foulger reviewed C8orf37
Fetal hydrops KLF1 Rebecca Foulger classified KLF1 as green
Primary ovarian insufficiency MCM9 Arianna Tucci added MCM9 to panel
Primary ovarian insufficiency MCM9 Arianna Tucci reviewed MCM9
Primary ovarian insufficiency MCM8 Arianna Tucci reviewed MCM8
Ehlers Danlos syndrome with a likely monogenic cause RIN2 Louise Daugherty edited their review of RIN2
Ehlers Danlos syndrome with a likely monogenic cause RIN2 Louise Daugherty commented on RIN2
Hydrocephalus FMR1 Helen Brittain marked FMR1 as ready
Hydrocephalus FMR1 Helen Brittain classified FMR1 as green
Hydrocephalus FMR1 Helen Brittain added FMR1 to panel
Hydrocephalus FMR1 Helen Brittain reviewed FMR1
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty edited their review of PYCR1
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty classified PYCR1 as green
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty commented on PYCR1
Intellectual disability PPM1D Helen Brittain marked PPM1D as ready
Intellectual disability PPM1D Helen Brittain classified PPM1D as green
Intellectual disability PPM1D Helen Brittain classified PPM1D as green
Intellectual disability PPM1D Helen Brittain added PPM1D to panel
Intellectual disability PPM1D Helen Brittain reviewed PPM1D
Radial dysplasia TBX5 Helen Brittain reviewed TBX5
Ehlers Danlos syndrome with a likely monogenic cause LTBP4 Louise Daugherty classified LTBP4 as green
Ehlers Danlos syndrome with a likely monogenic cause LTBP4 Louise Daugherty edited their review of LTBP4
Ehlers Danlos syndrome with a likely monogenic cause LTBP4 Louise Daugherty commented on LTBP4
Ehlers Danlos syndrome with a likely monogenic cause FBLN5 Louise Daugherty classified FBLN5 as green
Ehlers Danlos syndrome with a likely monogenic cause FBLN5 Louise Daugherty commented on FBLN5
Ehlers Danlos syndrome with a likely monogenic cause ELN Louise Daugherty classified ELN as green
Ehlers Danlos syndrome with a likely monogenic cause ELN Louise Daugherty commented on ELN
Ehlers Danlos syndrome with a likely monogenic cause EFEMP2 Louise Daugherty classified EFEMP2 as green
Ehlers Danlos syndrome with a likely monogenic cause EFEMP2 Louise Daugherty reviewed EFEMP2
Ehlers Danlos syndrome with a likely monogenic cause ATP6V0A2 Louise Daugherty classified ATP6V0A2 as green
Ehlers Danlos syndrome with a likely monogenic cause ATP6V0A2 Louise Daugherty reviewed ATP6V0A2
Ehlers Danlos syndrome with a likely monogenic cause ALDH18A1 Louise Daugherty edited their review of ALDH18A1
Ehlers Danlos syndrome with a likely monogenic cause ALDH18A1 Louise Daugherty classified ALDH18A1 as green
Ehlers Danlos syndrome with a likely monogenic cause ALDH18A1 Louise Daugherty commented on ALDH18A1
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty commented on GORAB
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty classified GORAB as green
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty added GORAB to panel
Ehlers Danlos syndrome with a likely monogenic cause GORAB Louise Daugherty reviewed GORAB
Primary ovarian insufficiency LMNA Arianna Tucci reviewed LMNA
Primary ovarian insufficiency HFM1 Arianna Tucci reviewed HFM1
Primary ovarian insufficiency FOXL2 Arianna Tucci reviewed FOXL2
Primary ovarian insufficiency EIF4ENIF1 Arianna Tucci reviewed EIF4ENIF1
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty commented on COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty classified COL9A3 as green
Primary ovarian insufficiency DIAPH2 Arianna Tucci edited their review of DIAPH2
Primary ovarian insufficiency DIAPH2 Arianna Tucci reviewed DIAPH2
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty edited their review of COL9A3
Primary ovarian insufficiency POF1B Arianna Tucci reviewed POF1B
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty commented on COL9A3
Primary ovarian insufficiency NOBOX Arianna Tucci reviewed NOBOX
Ehlers Danlos syndrome with a likely monogenic cause COL9A2 Louise Daugherty commented on COL9A2
Ehlers Danlos syndrome with a likely monogenic cause COL9A1 Louise Daugherty commented on COL9A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Louise Daugherty commented on COL2A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Louise Daugherty commented on COL2A1
Intellectual disability ARID2 Cristina Dias reviewed ARID2
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2
Monogenic nephrogenic diabetes insipidus emma baple promoted panel to version 1
Monogenic nephrogenic diabetes insipidus SLC12A1 emma baple marked SLC12A1 as ready
Monogenic nephrogenic diabetes insipidus WFS1 emma baple marked WFS1 as ready
Monogenic nephrogenic diabetes insipidus WFS1 emma baple reviewed WFS1
Monogenic nephrogenic diabetes insipidus AQP2 emma baple reviewed AQP2
Monogenic nephrogenic diabetes insipidus AVPR2 emma baple reviewed AVPR2
Monogenic nephrogenic diabetes insipidus SLC12A1 emma baple reviewed SLC12A1
Monogenic nephrogenic diabetes insipidus AVP emma baple marked AVP as ready
Monogenic nephrogenic diabetes insipidus AVP emma baple commented on AVP
Monogenic nephrogenic diabetes insipidus AVPR2 emma baple marked AVPR2 as ready
Monogenic nephrogenic diabetes insipidus AQP2 emma baple marked AQP2 as ready
Hydrocephalus POMGNT2 Helen Brittain classified POMGNT2 as green
Hydrocephalus DAG1 Helen Brittain classified DAG1 as green
Hydrocephalus GUSB Helen Brittain classified GUSB as green
Hydrocephalus IDS Helen Brittain classified IDS as green
Hydrocephalus IDS Helen Brittain classified IDS as green
Hydrocephalus PIK3CA Helen Brittain classified PIK3CA as green
Hydrocephalus TMEM5 Helen Brittain marked TMEM5 as ready
Hydrocephalus TMEM5 Helen Brittain classified TMEM5 as green
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty edited their review of COL11A1
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty classified COL11A1 as green
Extreme early-onset hypertension AGT Sarah Leigh classified AGT as red
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty commented on COL11A1
Skeletal dysplasia NANS Helen Brittain marked NANS as ready
Skeletal dysplasia NANS Helen Brittain classified NANS as green
Skeletal dysplasia NANS Helen Brittain classified NANS as green
Skeletal dysplasia NANS Helen Brittain added NANS to panel
Skeletal dysplasia NANS Helen Brittain reviewed NANS
Intellectual disability NANS Helen Brittain marked NANS as ready
Intellectual disability NANS Helen Brittain classified NANS as green
Intellectual disability NANS Helen Brittain added NANS to panel
Intellectual disability NANS Helen Brittain reviewed NANS
Hydrocephalus GMPPB Helen Brittain added GMPPB to panel
Hydrocephalus GMPPB Helen Brittain reviewed GMPPB
Hydrocephalus POMGNT2 Helen Brittain added POMGNT2 to panel
Hydrocephalus POMGNT2 Helen Brittain reviewed POMGNT2
Hydrocephalus DAG1 Helen Brittain added DAG1 to panel
Hydrocephalus DAG1 Helen Brittain reviewed DAG1
Hydrocephalus TMEM5 Helen Brittain added TMEM5 to panel
Hydrocephalus TMEM5 Helen Brittain reviewed TMEM5
Hydrocephalus ZBTB20 Helen Brittain reviewed ZBTB20
Hydrocephalus ZIC3 Helen Brittain reviewed ZIC3
Hydrocephalus ZIC2 Helen Brittain reviewed ZIC2
Hydrocephalus WASHC5 Helen Brittain reviewed WASHC5*
Hydrocephalus WNT3 Helen Brittain reviewed WNT3
Hydrocephalus TMEM216 Helen Brittain reviewed TMEM216
Hydrocephalus TBX15 Helen Brittain reviewed TBX15
Hydrocephalus TBC1D7 Helen Brittain reviewed TBC1D7
Hydrocephalus SUMF1 Helen Brittain reviewed SUMF1
Hydrocephalus SUFU Helen Brittain reviewed SUFU
Hydrocephalus SNX10 Helen Brittain reviewed SNX10
Hydrocephalus SKI Helen Brittain reviewed SKI
Hydrocephalus SEC24D Helen Brittain reviewed SEC24D
Hydrocephalus RPS6KA3 Helen Brittain reviewed RPS6KA3
Hydrocephalus RNF125 Helen Brittain reviewed RNF125
Hydrocephalus RNASEH2A Helen Brittain reviewed RNASEH2A
Hydrocephalus PTEN Helen Brittain reviewed PTEN
Hydrocephalus PTCH2 Helen Brittain reviewed PTCH2
Hydrocephalus PTCH1 Helen Brittain reviewed PTCH1
Hydrocephalus PPP2R5D Helen Brittain reviewed PPP2R5D
Hydrocephalus POMK Helen Brittain reviewed POMK
Hydrocephalus POMGNT1 Helen Brittain reviewed POMGNT1
Hydrocephalus PLG Helen Brittain reviewed PLG
Hydrocephalus P4HB Helen Brittain reviewed P4HB
Hydrocephalus OFD1 Helen Brittain reviewed OFD1
Hydrocephalus NRAS Helen Brittain reviewed NRAS
Hydrocephalus NOTCH2 Helen Brittain reviewed NOTCH2
Hydrocephalus NF1 Helen Brittain reviewed NF1
Hydrocephalus NANS Helen Brittain reviewed NANS
Hydrocephalus MTM1 Helen Brittain reviewed MTM1
Hydrocephalus MMACHC Helen Brittain reviewed MMACHC
Hydrocephalus LAMB1 Helen Brittain reviewed LAMB1
Hydrocephalus ISPD Helen Brittain reviewed ISPD
Hydrocephalus HDAC6 Helen Brittain reviewed HDAC6
Hydrocephalus GPSM2 Helen Brittain reviewed GPSM2
Hydrocephalus GLI3 Helen Brittain reviewed GLI3
Hydrocephalus FLNA Helen Brittain reviewed FLNA
Hydrocephalus FKTN Helen Brittain reviewed FKTN
Hydrocephalus FKRP Helen Brittain reviewed FKRP
Hydrocephalus FGFR3 Helen Brittain reviewed FGFR3
Hydrocephalus FGFR2 Helen Brittain reviewed FGFR2
Hydrocephalus FAM20C Helen Brittain reviewed FAM20C
Hydrocephalus EML1 Helen Brittain reviewed EML1
Hydrocephalus EBP Helen Brittain reviewed EBP
Hydrocephalus DHCR24 Helen Brittain reviewed DHCR24
Hydrocephalus DENND5A Helen Brittain reviewed DENND5A
Hydrocephalus COL4A1 Helen Brittain reviewed COL4A1
Hydrocephalus CLIC2 Helen Brittain reviewed CLIC2
Hydrocephalus B3GLCT Helen Brittain reviewed B3GLCT*
Hydrocephalus ARX Helen Brittain reviewed ARX
Hydrocephalus AP1S2 Helen Brittain reviewed AP1S2
Hereditary Erythrocytosis Olivia Niblock promoted panel to version 1
Intellectual disability RGAG1 Louise Daugherty commented on RGAG1
Dilated Cardiomyopathy and conduction defects MURC Louise Daugherty commented on MURC
Hereditary Erythrocytosis HBA1 Olivia Niblock classified HBA1 as green
Hereditary Erythrocytosis HBB Olivia Niblock classified HBB as green
Insulin resistance (including lipodystrophy) PTRF Louise Daugherty commented on PTRF
Gastrointestinal neuromuscular disorders PTRF Louise Daugherty commented on PTRF
Familial Hirschsprung Disease ZEB2 Sumita Chhabra reviewed ZEB2
Familial Hirschsprung Disease VCL Sumita Chhabra commented on VCL
Familial Hirschsprung Disease TBATA Sumita Chhabra commented on TBATA
Familial Hirschsprung Disease SOX10 Sumita Chhabra reviewed SOX10
Familial Hirschsprung Disease SEMA3D Sumita Chhabra commented on SEMA3D
Familial Hirschsprung Disease SEMA3C Sumita Chhabra commented on SEMA3C
Familial Hirschsprung Disease SEMA3A Sumita Chhabra commented on SEMA3A
Familial Hirschsprung Disease RET Sumita Chhabra reviewed RET
Familial Hirschsprung Disease PHOX2B Sumita Chhabra reviewed PHOX2B
Familial Hirschsprung Disease NUP98 Sumita Chhabra commented on NUP98
Familial Hirschsprung Disease NRG1 Sumita Chhabra reviewed NRG1
Familial Hirschsprung Disease NCLN Sumita Chhabra commented on NCLN
Familial Hirschsprung Disease KIAA1279 Sumita Chhabra reviewed KIAA1279
Familial Hirschsprung Disease GFRA1 Sumita Chhabra reviewed GFRA1
Familial Hirschsprung Disease GDNF Sumita Chhabra reviewed GDNF
Familial Hirschsprung Disease EDNRB Sumita Chhabra reviewed EDNRB
Familial Hirschsprung Disease EDN3 Sumita Chhabra reviewed EDN3
Familial Hirschsprung Disease ECE1 Sumita Chhabra reviewed ECE1
Familial Hirschsprung Disease DENND3 Sumita Chhabra commented on DENND3
Familial Hirschsprung Disease NRG3 Rebecca Foulger commented on NRG3
Familial Hirschsprung Disease ZEB2 Rebecca Foulger commented on ZEB2
Familial Hirschsprung Disease PHOX2B Rebecca Foulger commented on PHOX2B
Retinal disorders C10orf11 Louise Daugherty commented on C10orf11
Ocular and oculo-cutaneous albinism C10orf11 Louise Daugherty commented on C10orf11
Infantile nystagmus C10orf11 Louise Daugherty commented on C10orf11
Glaucoma (developmental) C10orf11 Louise Daugherty commented on C10orf11
Familial Hirschsprung Disease KIAA1279 Rebecca Foulger commented on KIAA1279
Familial dysautonomia IKBKAP Louise Daugherty commented on IKBKAP
Hereditary neuropathy IKBKAP Louise Daugherty commented on IKBKAP
Hereditary Erythrocytosis HBA2 Olivia Niblock classified HBA2 as green
Hereditary Erythrocytosis HBA2 Olivia Niblock commented on HBA2
Ehlers Danlos syndrome with a likely monogenic cause FLCN Louise Daugherty commented on FLCN
Intellectual disability CBS Louise Daugherty commented on CBS
Ehlers Danlos syndrome with a likely monogenic cause GGCX Louise Daugherty commented on GGCX
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty commented on ATP7A
Hereditary Erythrocytosis HBB Olivia Niblock classified HBB as amber
Hereditary Erythrocytosis HBA1 Olivia Niblock classified HBA1 as amber
Hereditary Erythrocytosis HBA2 Olivia Niblock marked HBA2 as ready
Hereditary Erythrocytosis HBA2 Olivia Niblock classified HBA2 as amber
Hereditary Erythrocytosis HBA2 Olivia Niblock classified HBA2 as green
Hereditary Erythrocytosis HBA1 Olivia Niblock marked HBA1 as ready
Hereditary Erythrocytosis HBA1 Olivia Niblock classified HBA1 as green
Hereditary Erythrocytosis HBA1 Olivia Niblock commented on HBA1
Hydrocephalus AKT3 Ellen McDonagh commented on AKT3
Segmental overgrowth disorders - Deep sequencing AKT3 Ellen McDonagh commented on AKT3
Malformations of cortical development AKT3 Ellen McDonagh commented on AKT3
Intellectual disability AKT3 Ellen McDonagh commented on AKT3
Undiagnosed metabolic disorders IDH2 Ellen McDonagh commented on IDH2
Intellectual disability IDH2 Ellen McDonagh commented on IDH2
Dilated Cardiomyopathy and conduction defects IDH2 Ellen McDonagh commented on IDH2
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty classified LOX as green
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty commented on LOX
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty edited their review of LOX
Severe hypertriglyceridaemia Sarah Leigh promoted panel to version 1
Severe hypertriglyceridaemia LMF1 Sarah Leigh marked LMF1 as ready
Severe hypertriglyceridaemia LMF1 Sarah Leigh commented on LMF1
Severe hypertriglyceridaemia GPIHBP1 Sarah Leigh marked GPIHBP1 as ready
Severe hypertriglyceridaemia GPIHBP1 Sarah Leigh commented on GPIHBP1
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Louise Daugherty commented on TGFB3
Severe hypertriglyceridaemia GPIHBP1 Sarah Leigh classified GPIHBP1 as green
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Louise Daugherty classified TGFB3 as green
Severe hypertriglyceridaemia GPD1 Sarah Leigh marked GPD1 as ready
Severe hypertriglyceridaemia GPD1 Sarah Leigh commented on GPD1
Skeletal dysplasia POP1 Rebecca Foulger commented on POP1
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Louise Daugherty edited their review of TGFBR2
Severe hypertriglyceridaemia APOA5 Sarah Leigh classified APOA5 as green
Severe hypertriglyceridaemia LPL Sarah Leigh marked LPL as ready
Thoracic aortic aneurysm or dissection TGFB2 Louise Daugherty commented on TGFB2
Severe hypertriglyceridaemia LPL Sarah Leigh commented on LPL
Ehlers Danlos syndrome with a likely monogenic cause TGFB2 Louise Daugherty classified TGFB2 as green
Ehlers Danlos syndrome with a likely monogenic cause BGN Louise Daugherty classified BGN as green
Arthrogryposis ANXA3 Sarah Leigh added ANXA3 to panel
Arthrogryposis ANXA3 Sarah Leigh reviewed ANXA3
Cytopenias and congenital anaemias RPL18 Sarah Leigh added RPL18 to panel
Cytopenias and congenital anaemias RPL18 Sarah Leigh reviewed RPL18
Hereditary Erythrocytosis HBB Olivia Niblock marked HBB as ready
Hereditary Erythrocytosis HBB Olivia Niblock classified HBB as green
Cytopenias and congenital anaemias RPL35 Sarah Leigh added RPL35 to panel
Cytopenias and congenital anaemias RPL35 Sarah Leigh reviewed RPL35
Familial non syndromic congenital heart disease ABL1 Sarah Leigh classified ABL1 as amber
Familial non syndromic congenital heart disease ABL1 Sarah Leigh added ABL1 to panel
Familial non syndromic congenital heart disease ABL1 Sarah Leigh reviewed ABL1
Hereditary Erythrocytosis BPGM Olivia Niblock marked BPGM as ready
Hereditary Erythrocytosis BPGM Olivia Niblock classified BPGM as green
Primary ciliary disorders CEP55 Sarah Leigh added CEP55 to panel
Primary ciliary disorders CEP55 Sarah Leigh reviewed CEP55
Undiagnosed metabolic disorders PIGT Sarah Leigh classified PIGT as green
Undiagnosed metabolic disorders PIGT Sarah Leigh added PIGT to panel
Undiagnosed metabolic disorders PIGT Sarah Leigh reviewed PIGT
Skeletal dysplasia PIGT Sarah Leigh classified PIGT as green
Congenital disorders of glycosylation PIGT Sarah Leigh classified PIGT as green
Skeletal dysplasia PIGT Sarah Leigh classified PIGT as green
Intellectual disability PIGT Sarah Leigh classified PIGT as green
Intellectual disability PIGT Sarah Leigh commented on PIGT
Bilateral congenital or childhood onset cataracts PRX Sarah Leigh commented on PRX
Bilateral congenital or childhood onset cataracts PRX Sarah Leigh added PRX to panel
Bilateral congenital or childhood onset cataracts PRX Sarah Leigh reviewed PRX
Familial pulmonary fibrosis FAM111B Sarah Leigh classified FAM111B as green
Familial pulmonary fibrosis FAM111B Sarah Leigh added FAM111B to panel
Familial pulmonary fibrosis FAM111B Sarah Leigh reviewed FAM111B
Proteinuric renal disease ANLN Sarah Leigh classified ANLN as amber
Proteinuric renal disease ANLN Sarah Leigh added ANLN to panel
Proteinuric renal disease ANLN Sarah Leigh reviewed ANLN
Intellectual disability NDN Sarah Leigh added NDN to panel
Intellectual disability NDN Sarah Leigh reviewed NDN
Fetal hydrops KLF1 Rebecca Foulger commented on KLF1
Cytopenias and congenital anaemias SAMD9L Sarah Leigh commented on SAMD9L
Hydrocephalus POMT2 Helen Brittain marked POMT2 as ready
Hydrocephalus POMT2 Helen Brittain classified POMT2 as green
Hydrocephalus POMT2 Helen Brittain reviewed POMT2
Fetal hydrops KLF1 Rebecca Foulger commented on KLF1
Fetal hydrops KLF1 Rebecca Foulger commented on KLF1
Cytopenias and congenital anaemias SAMD9L Sarah Leigh classified SAMD9L as green
Cytopenias and congenital anaemias SAMD9L Sarah Leigh added SAMD9L to panel
Cytopenias and congenital anaemias SAMD9L Sarah Leigh reviewed SAMD9L
Hydrocephalus POMT1 Helen Brittain marked POMT1 as ready
Hydrocephalus POMT1 Helen Brittain classified POMT1 as green
Hydrocephalus POMT1 Helen Brittain reviewed POMT1
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty commented on MYLK
Ehlers Danlos syndrome with a likely monogenic cause MYH11 Louise Daugherty commented on MYH11
Fetal hydrops KLF1 Rebecca Foulger added KLF1 to panel
Fetal hydrops KLF1 Rebecca Foulger reviewed KLF1
Hydrocephalus PIK3R2 Helen Brittain marked PIK3R2 as ready
Hydrocephalus PIK3R2 Helen Brittain classified PIK3R2 as green
Hydrocephalus PIK3R2 Helen Brittain reviewed PIK3R2
Hydrocephalus PIK3CA Helen Brittain reviewed PIK3CA
Hydrocephalus MPDZ Helen Brittain marked MPDZ as ready
Hydrocephalus MPDZ Helen Brittain classified MPDZ as amber
Hydrocephalus MPDZ Helen Brittain reviewed MPDZ
Retinal disorders CYP2R1 Sarah Leigh classified CYP2R1 as amber
Hydrocephalus LARGE Helen Brittain marked LARGE as ready
Hydrocephalus LARGE Helen Brittain classified LARGE as green
Hydrocephalus LARGE Helen Brittain reviewed LARGE
Retinal disorders CYP2R1 Sarah Leigh added CYP2R1 to panel
Retinal disorders CYP2R1 Sarah Leigh reviewed CYP2R1
Hydrocephalus IDS Helen Brittain reviewed IDS
Hydrocephalus GUSB Helen Brittain reviewed GUSB
Ehlers Danlos syndrome with a likely monogenic cause MED12 Louise Daugherty commented on MED12
Hydrocephalus CCND2 Helen Brittain marked CCND2 as ready
Hydrocephalus CCND2 Helen Brittain classified CCND2 as green
Hydrocephalus CCND2 Helen Brittain reviewed CCND2
Severe hypertriglyceridaemia LMF1 steve Humphries reviewed LMF1
Severe hypertriglyceridaemia GPIHBP1 steve Humphries reviewed GPIHBP1
Severe hypertriglyceridaemia GPD1 steve Humphries reviewed GPD1
Severe hypertriglyceridaemia APOA5 steve Humphries reviewed APOA5
Severe hypertriglyceridaemia LPL steve Humphries reviewed LPL
Severe hypertriglyceridaemia APOC2 steve Humphries reviewed APOC2
Hydrocephalus CCDC88C Helen Brittain marked CCDC88C as ready
Hydrocephalus CCDC88C Helen Brittain edited their review of CCDC88C
Hydrocephalus CCDC88C Helen Brittain classified CCDC88C as green
Hydrocephalus CCDC88C Helen Brittain commented on CCDC88C
Hydrocephalus CENPF Helen Brittain marked CENPF as ready
Hydrocephalus CENPF Helen Brittain classified CENPF as green
Hydrocephalus B3GNT2 Helen Brittain marked B3GNT2 as ready
Hydrocephalus B3GNT2 Helen Brittain classified B3GNT2 as amber
Hydrocephalus CEP83 Helen Brittain marked CEP83 as ready
Hydrocephalus CEP83 Helen Brittain classified CEP83 as green
Hydrocephalus BUB1B Helen Brittain marked BUB1B as ready
Ehlers Danlos syndrome with a likely monogenic cause TGFB2 Louise Daugherty commented on TGFB2
Hydrocephalus BUB1B Helen Brittain classified BUB1B as green
Hydrocephalus B3GALTL Helen Brittain marked B3GALTL as ready
Hydrocephalus B3GALTL Helen Brittain classified B3GALTL as green
Hydrocephalus B3GALNT2 Helen Brittain marked B3GALNT2 as ready
Hydrocephalus B3GALNT2 Helen Brittain classified B3GALNT2 as green
Hydrocephalus AKT3 Helen Brittain classified AKT3 as green
Ehlers Danlos syndrome with a likely monogenic cause SLC2A10 Louise Daugherty commented on SLC2A10
Hydrocephalus GFAP Helen Brittain marked GFAP as ready
Hydrocephalus GFAP Helen Brittain classified GFAP as green
Hydrocephalus GFAP Helen Brittain reviewed GFAP
Hydrocephalus ARSB Helen Brittain classified ARSB as green
Hydrocephalus ARSB Helen Brittain reviewed ARSB
Hereditary Erythrocytosis EPO Olivia Niblock classified EPO as red
Hereditary Erythrocytosis EPO Olivia Niblock classified EPO as red
Hereditary Erythrocytosis EGLN3 Olivia Niblock classified EGLN3 as red
Hereditary Erythrocytosis EGLN2 Olivia Niblock classified EGLN2 as red
Familial pulmonary fibrosis SFTPA1 Louise Daugherty reviewed SFTPA1
Congenital disorders of glycosylation COG2 Rebecca Foulger commented on COG2
Undiagnosed metabolic disorders TM6SF2 Sarah Leigh added TM6SF2 to panel
Undiagnosed metabolic disorders TM6SF2 Sarah Leigh reviewed TM6SF2
Cytopenias and congenital anaemias C6orf25 Sarah Leigh added C6orf25 to panel
Cytopenias and congenital anaemias C6orf25 Sarah Leigh reviewed C6orf25
Cytopenias and congenital anaemias RPS27 Rebecca Foulger commented on RPS27
Cytopenias and congenital anaemias RPL27 Rebecca Foulger commented on RPL27
Undiagnosed metabolic disorders ATP7A Sarah Leigh commented on ATP7A
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty commented on ATP7A
Ehlers Danlos syndrome with a likely monogenic cause CBS Louise Daugherty commented on CBS
Undiagnosed metabolic disorders ATP7A Louise Daugherty commented on ATP7A
Undiagnosed metabolic disorders CBS Louise Daugherty commented on CBS
Undiagnosed metabolic disorders ATP7A Sarah Leigh classified ATP7A as green
Thoracic aortic aneurysm or dissection MED12 Louise Daugherty commented on MED12
Inherited bleeding disorders F8 Sarah Leigh reviewed F8
Thoracic aortic aneurysm or dissection PKD1 Louise Daugherty commented on PKD1
Thoracic aortic aneurysm or dissection PKD2 Louise Daugherty commented on PKD2
Thoracic aortic aneurysm or dissection PKD2 Louise Daugherty added PKD2 to panel
Thoracic aortic aneurysm or dissection PKD2 Louise Daugherty reviewed PKD2
Thoracic aortic aneurysm or dissection PKD1 Louise Daugherty added PKD1 to panel
Thoracic aortic aneurysm or dissection PKD1 Louise Daugherty reviewed PKD1
Ehlers Danlos syndrome with a likely monogenic cause PKD2 Louise Daugherty classified PKD2 as grey
Ehlers Danlos syndrome with a likely monogenic cause PKD2 Louise Daugherty commented on PKD2
Ehlers Danlos syndrome with a likely monogenic cause TSC2 Louise Daugherty classified TSC2 as grey
Ehlers Danlos syndrome with a likely monogenic cause TSC2 Louise Daugherty commented on TSC2
Ehlers Danlos syndrome with a likely monogenic cause TSC1 Louise Daugherty classified TSC1 as grey
Ehlers Danlos syndrome with a likely monogenic cause TSC1 Louise Daugherty commented on TSC1
Hereditary Erythrocytosis HBB Olivia Niblock edited their review of HBB
Hereditary Erythrocytosis HBB Olivia Niblock classified HBB as amber
Hereditary Erythrocytosis HBB Olivia Niblock edited their review of HBB
Hereditary Erythrocytosis HIF1A Olivia Niblock edited their review of HIF1A
Hereditary Erythrocytosis EGLN2 Olivia Niblock edited their review of EGLN2
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Louise Daugherty commented on TGFBR2
Ehlers Danlos syndrome with a likely monogenic cause TGFBR1 Louise Daugherty commented on TGFBR1
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty edited their review of SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty edited their review of SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SKI Louise Daugherty edited their review of SKI
Ehlers Danlos syndrome with a likely monogenic cause FBN2 Louise Daugherty edited their review of FBN2
Hereditary Erythrocytosis EGLN3 Olivia Niblock added EGLN3 to panel
Hereditary Erythrocytosis EGLN3 Olivia Niblock reviewed EGLN3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty edited their review of COL6A2
Hereditary Erythrocytosis EGLN2 Olivia Niblock added EGLN2 to panel
Hereditary Erythrocytosis EGLN2 Olivia Niblock reviewed EGLN2
Hereditary Erythrocytosis HIF1A Olivia Niblock added HIF1A to panel
Hereditary Erythrocytosis HIF1A Olivia Niblock reviewed HIF1A
Hereditary Erythrocytosis PKLR Olivia Niblock added PKLR to panel
Hereditary Erythrocytosis PKLR Olivia Niblock reviewed PKLR
Hereditary Erythrocytosis HBA1 Olivia Niblock added HBA1 to panel
Hereditary Erythrocytosis HBA1 Olivia Niblock reviewed HBA1
Familial breast cancer PPM1D Clare Turnbull reviewed PPM1D
Hereditary Erythrocytosis HBB Olivia Niblock added HBB to panel
Hereditary Erythrocytosis HBB Olivia Niblock reviewed HBB
Hereditary Erythrocytosis BPGM Olivia Niblock edited their review of BPGM
Familial pulmonary fibrosis SFTPA1 Louise Daugherty reviewed SFTPA1
Familial pulmonary fibrosis Louise Daugherty promoted panel to version 1
Familial pulmonary fibrosis TINF2 Louise Daugherty commented on TINF2
Familial pulmonary fibrosis SMPD1 Louise Daugherty commented on SMPD1
Familial pulmonary fibrosis SLC7A7 Louise Daugherty commented on SLC7A7
Familial pulmonary fibrosis SFTPC Louise Daugherty commented on SFTPC
Primary ovarian insufficiency FSHR Arianna Tucci reviewed FSHR
Neonatal diabetes AGPAT2 Rebecca Foulger edited their review of AGPAT2
Neonatal diabetes AGPAT2 Rebecca Foulger commented on AGPAT2
Familial pulmonary fibrosis SFTPA1 Ellen McDonagh classified SFTPA1 as red
Familial pulmonary fibrosis SFTPA1 Ellen McDonagh commented on SFTPA1
Primary ovarian insufficiency FMR1 Arianna Tucci reviewed FMR1
Familial pulmonary fibrosis NKX2-1 Louise Daugherty commented on NKX2-1
Familial pulmonary fibrosis HPS1 Louise Daugherty commented on HPS1
Familial pulmonary fibrosis GBA Louise Daugherty commented on GBA
Familial pulmonary fibrosis DKC1 Louise Daugherty commented on DKC1
Familial pulmonary fibrosis CSF2RB Louise Daugherty commented on CSF2RB
Familial pulmonary fibrosis CSF2RA Louise Daugherty commented on CSF2RA
Neonatal diabetes LRBA Rebecca Foulger commented on LRBA
Neonatal diabetes LRBA Rebecca Foulger edited their review of LRBA
Neonatal diabetes LRBA Rebecca Foulger commented on LRBA
Glaucoma (developmental) Ellen McDonagh promoted panel to version 1
Familial pulmonary fibrosis ABCA3 Louise Daugherty commented on ABCA3
Glaucoma (developmental) TP53BP2 Sarah Leigh added TP53BP2 to panel
Glaucoma (developmental) TP53BP2 Sarah Leigh reviewed TP53BP2
Ocular and oculo-cutaneous albinism HPS5 Chris Campbell added HPS5 to panel
Ocular and oculo-cutaneous albinism HPS5 Chris Campbell reviewed HPS5
Hydrocephalus AKT3 Helen Brittain reviewed AKT3
Ocular and oculo-cutaneous albinism HPS3 Chris Campbell reviewed HPS3
Ocular and oculo-cutaneous albinism HPS4 Chris Campbell added HPS4 to panel
Ocular and oculo-cutaneous albinism HPS4 Chris Campbell reviewed HPS4
Hydrocephalus MAN2B1 Helen Brittain reviewed MAN2B1
Ocular and oculo-cutaneous albinism HPS3 Chris Campbell added HPS3 to panel
Ocular and oculo-cutaneous albinism HPS3 Chris Campbell reviewed HPS3
Ocular and oculo-cutaneous albinism HPS1 Chris Campbell added HPS1 to panel
Ocular and oculo-cutaneous albinism HPS1 Chris Campbell reviewed HPS1
Hydrocephalus CEP83 Helen Brittain added CEP83 to panel
Hydrocephalus CEP83 Helen Brittain reviewed CEP83
Hydrocephalus CENPF Helen Brittain added CENPF to panel
Hydrocephalus CENPF Helen Brittain reviewed CENPF
Hydrocephalus BUB1B Helen Brittain added BUB1B to panel
Hydrocephalus BUB1B Helen Brittain reviewed BUB1B
Hydrocephalus B3GNT2 Helen Brittain added B3GNT2 to panel
Hydrocephalus B3GNT2 Helen Brittain reviewed B3GNT2
Hydrocephalus B3GALTL Helen Brittain added B3GALTL to panel
Hydrocephalus B3GALTL Helen Brittain reviewed B3GALTL
Hydrocephalus B3GALNT2 Helen Brittain edited their review of B3GALNT2
Hydrocephalus B3GALNT2 Helen Brittain added B3GALNT2 to panel
Hydrocephalus B3GALNT2 Helen Brittain reviewed B3GALNT2
Glaucoma (developmental) FOXC1 Chris Campbell reviewed FOXC1
Monogenic nephrogenic diabetes insipidus SLC12A1 Ellen McDonagh edited their review of SLC12A1
Monogenic nephrogenic diabetes insipidus SLC12A1 Ellen McDonagh commented on SLC12A1
Monogenic nephrogenic diabetes insipidus SLC12A1 Ellen McDonagh added SLC12A1 to panel
Monogenic nephrogenic diabetes insipidus SLC12A1 Ellen McDonagh reviewed SLC12A1
Hereditary Erythrocytosis BPGM Olivia Niblock added BPGM to panel
Hereditary Erythrocytosis BPGM Olivia Niblock reviewed BPGM
Hereditary Erythrocytosis EPO Olivia Niblock added EPO to panel
Hereditary Erythrocytosis EPO Olivia Niblock reviewed EPO
Ehlers Danlos syndrome with a likely monogenic cause SERPINA1 Louise Daugherty classified SERPINA1 as grey
Ehlers Danlos syndrome with a likely monogenic cause SERPINA1 Louise Daugherty commented on SERPINA1
Hereditary Erythrocytosis EPOR Olivia Niblock marked EPOR as ready
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty added LOX to panel
Ehlers Danlos syndrome with a likely monogenic cause LOX Louise Daugherty reviewed LOX
Hereditary Erythrocytosis EPOR Olivia Niblock classified EPOR as green
Hereditary Erythrocytosis EPOR Olivia Niblock commented on EPOR
Hereditary Erythrocytosis VHL Olivia Niblock marked VHL as ready
Ehlers Danlos syndrome with a likely monogenic cause BGN Louise Daugherty added BGN to panel
Ehlers Danlos syndrome with a likely monogenic cause BGN Louise Daugherty reviewed BGN
Hereditary Erythrocytosis VHL Olivia Niblock commented on VHL
Hereditary Erythrocytosis VHL Olivia Niblock classified VHL as green
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Louise Daugherty added TGFB3 to panel
Ehlers Danlos syndrome with a likely monogenic cause TGFB3 Louise Daugherty reviewed TGFB3
Hereditary Erythrocytosis EPAS1 Olivia Niblock marked EPAS1 as ready
Hereditary Erythrocytosis EPAS1 Olivia Niblock classified EPAS1 as green
Hereditary Erythrocytosis EPAS1 Olivia Niblock commented on EPAS1
Hereditary Erythrocytosis EGLN1 Olivia Niblock marked EGLN1 as ready
Hereditary Erythrocytosis EGLN1 Olivia Niblock classified EGLN1 as green
Hereditary Erythrocytosis EGLN1 Olivia Niblock commented on EGLN1
Ehlers Danlos syndrome with a likely monogenic cause SKI Louise Daugherty classified SKI as green
Ehlers Danlos syndrome with a likely monogenic cause SKI Louise Daugherty commented on SKI
Ehlers Danlos syndrome with a likely monogenic cause FBN2 Louise Daugherty classified FBN2 as green
Ehlers Danlos syndrome with a likely monogenic cause FBN2 Louise Daugherty commented on FBN2
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty classified SMAD4 as green
Familial pulmonary fibrosis STAT3 Philip Molyneaux reviewed STAT3
Familial pulmonary fibrosis SMAD9 Philip Molyneaux reviewed SMAD9
Familial pulmonary fibrosis SFTPD Philip Molyneaux reviewed SFTPD
Familial pulmonary fibrosis SFTPA1 Philip Molyneaux reviewed SFTPA1
Familial pulmonary fibrosis SERPINA1 Philip Molyneaux reviewed SERPINA1
Familial pulmonary fibrosis SCNN1G Philip Molyneaux reviewed SCNN1G
Familial pulmonary fibrosis SCNN1B Philip Molyneaux reviewed SCNN1B
Familial pulmonary fibrosis SCNN1A Philip Molyneaux reviewed SCNN1A
Familial pulmonary fibrosis RSPH9 Philip Molyneaux reviewed RSPH9
Familial pulmonary fibrosis RSPH4A Philip Molyneaux reviewed RSPH4A
Familial pulmonary fibrosis RET Philip Molyneaux reviewed RET
Familial pulmonary fibrosis PHOX2B Philip Molyneaux reviewed PHOX2B
Familial pulmonary fibrosis NME8 Philip Molyneaux reviewed NME8
Familial pulmonary fibrosis MUC5B Philip Molyneaux reviewed MUC5B
Familial pulmonary fibrosis LTBP4 Philip Molyneaux reviewed LTBP4
Familial pulmonary fibrosis HPS6 Philip Molyneaux reviewed HPS6
Familial pulmonary fibrosis HPS5 Philip Molyneaux reviewed HPS5
Familial pulmonary fibrosis HPS3 Philip Molyneaux reviewed HPS3
Familial pulmonary fibrosis GDNF Philip Molyneaux reviewed GDNF
Familial pulmonary fibrosis FLCN Philip Molyneaux reviewed FLCN
Familial pulmonary fibrosis FBLN5 Philip Molyneaux reviewed FBLN5
Familial pulmonary fibrosis ENG Philip Molyneaux reviewed ENG
Familial pulmonary fibrosis ELN Philip Molyneaux reviewed ELN
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty commented on SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty edited their review of SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty classified SMAD3 as green
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty commented on SMAD3
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Louise Daugherty classified TGFBR2 as green
Ehlers Danlos syndrome with a likely monogenic cause TGFBR1 Louise Daugherty classified TGFBR1 as green
Monogenic nephrogenic diabetes insipidus AVPR2 Ellen McDonagh commented on AVPR2
Familial pulmonary fibrosis ELMOD2 Philip Molyneaux reviewed ELMOD2
Familial pulmonary fibrosis EFEMP2 Philip Molyneaux reviewed EFEMP2
Familial pulmonary fibrosis EDN3 Philip Molyneaux reviewed EDN3
Familial pulmonary fibrosis DTNBP1 Philip Molyneaux reviewed DTNBP1
Familial pulmonary fibrosis DOCK8 Philip Molyneaux reviewed DOCK8
Familial pulmonary fibrosis DNAL1 Philip Molyneaux reviewed DNAL1
Familial pulmonary fibrosis DNAI2 Philip Molyneaux reviewed DNAI2
Familial pulmonary fibrosis DNAI1 Philip Molyneaux reviewed DNAI1
Ehlers Danlos syndrome with a likely monogenic cause FLNA Louise Daugherty commented on FLNA
Familial pulmonary fibrosis DNAH5 Philip Molyneaux reviewed DNAH5
Monogenic nephrogenic diabetes insipidus AQP2 Ellen McDonagh commented on AQP2
Familial pulmonary fibrosis DNAH11 Philip Molyneaux reviewed DNAH11
Familial pulmonary fibrosis DNAAF2 Philip Molyneaux reviewed DNAAF2
Familial pulmonary fibrosis DNAAF1 Philip Molyneaux reviewed DNAAF1
Familial pulmonary fibrosis CFTR Philip Molyneaux reviewed CFTR
Familial pulmonary fibrosis CCDC40 Philip Molyneaux reviewed CCDC40
Familial pulmonary fibrosis CCDC39 Philip Molyneaux reviewed CCDC39
Familial pulmonary fibrosis BMPR2 Philip Molyneaux reviewed BMPR2
Familial pulmonary fibrosis BLOC1S6 Philip Molyneaux reviewed BLOC1S6
Monogenic nephrogenic diabetes insipidus AVPR2 Ellen McDonagh edited their review of AVPR2
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty classified DSE as amber
Familial pulmonary fibrosis BLOC1S3 Philip Molyneaux reviewed BLOC1S3
Monogenic nephrogenic diabetes insipidus AVPR2 Ellen McDonagh reviewed AVPR2
Familial pulmonary fibrosis BDNF Philip Molyneaux reviewed BDNF
Familial pulmonary fibrosis ASCL1 Philip Molyneaux reviewed ASCL1
Familial pulmonary fibrosis ACVRL1 Philip Molyneaux reviewed ACVRL1
Familial pulmonary fibrosis CASR Philip Molyneaux reviewed CASR
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty classified ZNF469 as green
Familial pulmonary fibrosis TSC2 Philip Molyneaux reviewed TSC2
Familial pulmonary fibrosis TSC1 Philip Molyneaux reviewed TSC1
Familial pulmonary fibrosis TINF2 Philip Molyneaux reviewed TINF2
Monogenic nephrogenic diabetes insipidus AQP2 Ellen McDonagh reviewed AQP2
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty classified PRDM5 as green
Familial pulmonary fibrosis TERT Philip Molyneaux reviewed TERT
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty edited their review of PRDM5
Familial pulmonary fibrosis TERC Philip Molyneaux reviewed TERC
Familial pulmonary fibrosis SMPD1 Philip Molyneaux reviewed SMPD1
Familial pulmonary fibrosis SLC7A7 Philip Molyneaux reviewed SLC7A7
Familial pulmonary fibrosis SLC34A2 Philip Molyneaux reviewed SLC34A2
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as green
Familial pulmonary fibrosis SFTPC Philip Molyneaux reviewed SFTPC
Familial pulmonary fibrosis SFTPB Philip Molyneaux reviewed SFTPB
Familial pulmonary fibrosis SFTPA2 Philip Molyneaux reviewed SFTPA2
Familial pulmonary fibrosis RTEL1 Philip Molyneaux reviewed RTEL1
Familial pulmonary fibrosis PARN Philip Molyneaux reviewed PARN
Familial pulmonary fibrosis NKX2-1 Philip Molyneaux reviewed NKX2-1
Familial pulmonary fibrosis NF1 Philip Molyneaux reviewed NF1
Familial pulmonary fibrosis HPS4 Philip Molyneaux reviewed HPS4
Familial pulmonary fibrosis HPS1 Philip Molyneaux reviewed HPS1
Familial pulmonary fibrosis GBA Philip Molyneaux reviewed GBA
Familial pulmonary fibrosis DKC1 Philip Molyneaux reviewed DKC1
Familial pulmonary fibrosis CSF2RB Philip Molyneaux reviewed CSF2RB
Familial pulmonary fibrosis CSF2RA Philip Molyneaux reviewed CSF2RA
Familial pulmonary fibrosis AP3B1 Philip Molyneaux reviewed AP3B1
Familial pulmonary fibrosis ABCA3 Philip Molyneaux reviewed ABCA3
Glaucoma (developmental) LTBP2 Ellen McDonagh marked LTBP2 as ready
Glaucoma (developmental) LTBP2 Ellen McDonagh classified LTBP2 as green
Glaucoma (developmental) SBF2 Ellen McDonagh marked SBF2 as ready
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty classified COL6A3 as green
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty classified COL6A2 as green
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty classified COL6A1 as green
Glaucoma (developmental) SBF2 Ellen McDonagh classified SBF2 as amber
Glaucoma (developmental) PITX2 Ellen McDonagh marked PITX2 as ready
Glaucoma (developmental) PITX2 Ellen McDonagh classified PITX2 as green
Glaucoma (developmental) GJA1 Ellen McDonagh marked GJA1 as ready
Glaucoma (developmental) GJA1 Ellen McDonagh classified GJA1 as amber
Glaucoma (developmental) FOXE3 Ellen McDonagh marked FOXE3 as ready
Glaucoma (developmental) FOXE3 Ellen McDonagh classified FOXE3 as green
Glaucoma (developmental) FOXD3 Ellen McDonagh marked FOXD3 as ready
Glaucoma (developmental) FOXD3 Ellen McDonagh classified FOXD3 as green
Glaucoma (developmental) FOXC1 Ellen McDonagh marked FOXC1 as ready
Glaucoma (developmental) FOXC1 Ellen McDonagh classified FOXC1 as green
Glaucoma (developmental) OPTN Ellen McDonagh marked OPTN as ready
Glaucoma (developmental) OPTN Ellen McDonagh classified OPTN as red
Glaucoma (developmental) DDX58 Ellen McDonagh marked DDX58 as ready
Glaucoma (developmental) DDX58 Ellen McDonagh classified DDX58 as amber
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty commented on COL6A3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty commented on COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty commented on COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty commented on COL6A3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty reviewed COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty commented on COL6A1
Neonatal diabetes STAT3 Rebecca Foulger commented on STAT3
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty edited their review of COL6A1
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty reviewed COL6A1
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty added COL6A3 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL6A3 Louise Daugherty reviewed COL6A3
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty added COL6A2 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL6A2 Louise Daugherty reviewed COL6A2
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty added COL6A1 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL6A1 Louise Daugherty reviewed COL6A1
Neonatal diabetes SLC19A2 Rebecca Foulger marked SLC19A2 as ready
Neonatal diabetes RFX6 Rebecca Foulger marked RFX6 as ready
Neonatal diabetes PDX1 Rebecca Foulger marked PDX1 as ready
Neonatal diabetes SLC2A2 Rebecca Foulger marked SLC2A2 as ready
Neonatal diabetes SLC2A2 Rebecca Foulger classified SLC2A2 as green
Neonatal diabetes SLC2A2 Rebecca Foulger commented on SLC2A2
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Undiagnosed metabolic disorders ABCG2 Sarah Leigh edited their review of ABCG2
Neonatal diabetes SLC19A2 Rebecca Foulger commented on SLC19A2
Neonatal diabetes SLC19A2 Rebecca Foulger edited their review of SLC19A2
Neonatal diabetes SLC19A2 Rebecca Foulger classified SLC19A2 as green
Neonatal diabetes SLC19A2 Rebecca Foulger commented on SLC19A2
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty classified C1S as green
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty edited their review of C1S
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty classified C1R as green
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty edited their review of C1R
Undiagnosed metabolic disorders HPRT1 Sarah Leigh classified HPRT1 as green
Hereditary Erythrocytosis EPOR Daniel Gale reviewed EPOR
Hereditary Erythrocytosis EGLN1 Daniel Gale edited their review of EGLN1
Hereditary Erythrocytosis VHL Daniel Gale reviewed VHL
Hereditary Erythrocytosis EPAS1 Daniel Gale reviewed EPAS1
Hereditary Erythrocytosis EGLN1 Daniel Gale reviewed EGLN1
Neonatal diabetes RFX6 Rebecca Foulger classified RFX6 as green
Neonatal diabetes RFX6 Rebecca Foulger commented on RFX6
Neonatal diabetes RFX6 Rebecca Foulger commented on RFX6
Neonatal diabetes PDX1 Rebecca Foulger classified PDX1 as green
Neonatal diabetes PDX1 Rebecca Foulger commented on PDX1
Neonatal diabetes PDX1 Rebecca Foulger commented on PDX1
Neonatal diabetes PDX1 Rebecca Foulger commented on PDX1
Neonatal diabetes PDX1 Rebecca Foulger edited their review of PDX1
Neonatal diabetes PDX1 Rebecca Foulger commented on PDX1
Epidermolysis bullosa KLHL24 John McGrath added KLHL24 to panel
Epidermolysis bullosa KLHL24 John McGrath reviewed KLHL24
Epidermolysis bullosa Louise Daugherty promoted panel to version 1
Neonatal diabetes NEUROG3 Rebecca Foulger commented on NEUROG3
Epidermolysis bullosa FERMT1 Louise Daugherty classified FERMT1 as green
Epidermolysis bullosa FERMT1 Louise Daugherty commented on FERMT1
Epidermolysis bullosa TGM5 Louise Daugherty classified TGM5 as green
Epidermolysis bullosa TGM5 Louise Daugherty commented on TGM5
Epidermolysis bullosa PKP1 Louise Daugherty classified PKP1 as green
Epidermolysis bullosa PKP1 Louise Daugherty commented on PKP1
Neonatal diabetes NEUROG3 Rebecca Foulger commented on NEUROG3
Epidermolysis bullosa MMP1 Louise Daugherty reviewed MMP1
Epidermolysis bullosa LAMA3 Louise Daugherty classified LAMA3 as green
Neonatal diabetes NEUROD1 Rebecca Foulger edited their review of NEUROD1
Neonatal diabetes NEUROD1 Rebecca Foulger commented on NEUROD1
Epidermolysis bullosa LAMA3 Louise Daugherty commented on LAMA3
Neonatal diabetes NKX2-2 Rebecca Foulger commented on NKX2-2
Neonatal diabetes MNX1 Rebecca Foulger commented on MNX1
Neonatal diabetes IER3IP1 Rebecca Foulger marked IER3IP1 as ready
Neonatal diabetes IER3IP1 Rebecca Foulger classified IER3IP1 as green
Neonatal diabetes IER3IP1 Rebecca Foulger classified IER3IP1 as red
Neonatal diabetes IER3IP1 Rebecca Foulger commented on IER3IP1
Epidermolysis bullosa JUP Louise Daugherty classified JUP as green
Epidermolysis bullosa JUP Louise Daugherty commented on JUP
Neonatal diabetes HNF1B Rebecca Foulger commented on HNF1B
Neonatal diabetes HNF1B Rebecca Foulger commented on HNF1B
Neonatal diabetes HNF1B Rebecca Foulger commented on HNF1B
Neonatal diabetes GATA6 Rebecca Foulger marked GATA6 as ready
Neonatal diabetes GATA6 Rebecca Foulger classified GATA6 as green
Neonatal diabetes GATA6 Rebecca Foulger commented on GATA6
Neonatal diabetes GATA4 Rebecca Foulger commented on GATA4
Neonatal diabetes FOXP3 Rebecca Foulger marked FOXP3 as ready
Epidermolysis bullosa ITGA3 Louise Daugherty classified ITGA3 as green
Epidermolysis bullosa ITGA3 Louise Daugherty commented on ITGA3
Epidermolysis bullosa EXPH5 Louise Daugherty classified EXPH5 as green
Epidermolysis bullosa EXPH5 Louise Daugherty commented on EXPH5
Epidermolysis bullosa DST Louise Daugherty classified DST as green
Epidermolysis bullosa DST Louise Daugherty commented on DST
Epidermolysis bullosa CD151 Louise Daugherty classified CD151 as red
Epidermolysis bullosa CD151 Louise Daugherty commented on CD151
Epidermolysis bullosa DSP Louise Daugherty commented on DSP
Epidermolysis bullosa PLEC Louise Daugherty commented on PLEC
Epidermolysis bullosa LAMC2 Louise Daugherty classified LAMC2 as green
Epidermolysis bullosa LAMC2 Louise Daugherty commented on LAMC2
Epidermolysis bullosa LAMB3 Louise Daugherty classified LAMB3 as green
Epidermolysis bullosa LAMB3 Louise Daugherty commented on LAMB3
Epidermolysis bullosa KRT14 Louise Daugherty classified KRT14 as green
Epidermolysis bullosa KRT14 Louise Daugherty commented on KRT14
Corneal abnormalities PRDM5 Sarah Leigh reviewed PRDM5
Neonatal diabetes GATA4 Rebecca Foulger commented on GATA4
Neonatal diabetes GATA4 Rebecca Foulger commented on GATA4
Neonatal diabetes FOXP3 Rebecca Foulger classified FOXP3 as green
Neonatal diabetes FOXP3 Rebecca Foulger commented on FOXP3
Epidermolysis bullosa ITGB4 Louise Daugherty classified ITGB4 as green
Neonatal diabetes EIF2AK3 Rebecca Foulger marked EIF2AK3 as ready
Neonatal diabetes EIF2AK3 Rebecca Foulger classified EIF2AK3 as green
Neonatal diabetes EIF2AK3 Rebecca Foulger commented on EIF2AK3
Neonatal diabetes ZFP57 Rebecca Foulger marked ZFP57 as ready
Neonatal diabetes ZFP57 Rebecca Foulger classified ZFP57 as green
Neonatal diabetes ZFP57 Rebecca Foulger commented on ZFP57
Ehlers Danlos syndrome with a likely monogenic cause TPSAB1 Louise Daugherty added TPSAB1 to panel
Ehlers Danlos syndrome with a likely monogenic cause TPSAB1 Louise Daugherty reviewed TPSAB1
Neonatal diabetes PTF1A Rebecca Foulger marked PTF1A as ready
Neonatal diabetes PTF1A Rebecca Foulger classified PTF1A as green
Neonatal diabetes PTF1A Rebecca Foulger commented on PTF1A
Neonatal diabetes KCNJ11 Rebecca Foulger marked KCNJ11 as ready
Neonatal diabetes KCNJ11 Rebecca Foulger classified KCNJ11 as green
Neonatal diabetes KCNJ11 Rebecca Foulger commented on KCNJ11
Neonatal diabetes INS Rebecca Foulger marked INS as ready
Neonatal diabetes INS Rebecca Foulger classified INS as green
Epidermolysis bullosa ITGB4 Louise Daugherty commented on ITGB4
Neonatal diabetes INS Rebecca Foulger commented on INS
Neonatal diabetes GLIS3 Rebecca Foulger marked GLIS3 as ready
Neonatal diabetes GLIS3 Rebecca Foulger classified GLIS3 as green
Neonatal diabetes GLIS3 Rebecca Foulger commented on GLIS3
Epidermolysis bullosa ITGA6 Louise Daugherty classified ITGA6 as green
Epidermolysis bullosa ITGA6 Louise Daugherty commented on ITGA6
Epidermolysis bullosa COL17A1 Louise Daugherty classified COL17A1 as green
Epidermolysis bullosa COL17A1 Louise Daugherty commented on COL17A1
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty edited their review of C1S
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Intellectual disability GPAA1 Rebecca Foulger added GPAA1 to panel
Intellectual disability GPAA1 Rebecca Foulger reviewed GPAA1
Neonatal diabetes ABCC8 Rebecca Foulger marked ABCC8 as ready
Neonatal diabetes ABCC8 Rebecca Foulger classified ABCC8 as green
Neonatal diabetes ABCC8 Rebecca Foulger commented on ABCC8
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Louise Daugherty commented on ADAMTS2
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Louise Daugherty commented on ADAMTS2
Familial hypercholesterolaemia LIPA Sarah Leigh reviewed LIPA
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty commented on COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty edited their review of COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty commented on COL3A1
Glaucoma (developmental) SBF2 Ellen McDonagh classified SBF2 as amber
Glaucoma (developmental) SBF2 Ellen McDonagh commented on SBF2
Glaucoma (developmental) PITX2 Ellen McDonagh classified PITX2 as amber
Glaucoma (developmental) PITX2 Ellen McDonagh commented on PITX2
Glaucoma (developmental) OPTN Ellen McDonagh classified OPTN as amber
Glaucoma (developmental) OPTN Ellen McDonagh commented on OPTN
Glaucoma (developmental) LTBP2 Ellen McDonagh edited their review of LTBP2
Glaucoma (developmental) LTBP2 Ellen McDonagh classified LTBP2 as amber
Glaucoma (developmental) LTBP2 Ellen McDonagh commented on LTBP2
Glaucoma (developmental) GJA1 Ellen McDonagh classified GJA1 as amber
Glaucoma (developmental) GJA1 Ellen McDonagh commented on GJA1
Glaucoma (developmental) FOXE3 Ellen McDonagh classified FOXE3 as amber
Glaucoma (developmental) FOXE3 Ellen McDonagh commented on FOXE3
Thoracic aortic aneurysm or dissection FOXE3 Ellen McDonagh added FOXE3 to panel
Thoracic aortic aneurysm or dissection FOXE3 Ellen McDonagh reviewed FOXE3
Glaucoma (developmental) FOXD3 Ellen McDonagh classified FOXD3 as amber
Glaucoma (developmental) FOXD3 Ellen McDonagh commented on FOXD3
Glaucoma (developmental) FOXC1 Ellen McDonagh classified FOXC1 as amber
Glaucoma (developmental) FOXC1 Ellen McDonagh commented on FOXC1
Glaucoma (developmental) DDX58 Ellen McDonagh classified DDX58 as amber
Glaucoma (developmental) DDX58 Ellen McDonagh classified DDX58 as amber
Glaucoma (developmental) DDX58 Ellen McDonagh commented on DDX58
Intellectual disability RHEB Rebecca Foulger commented on RHEB
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Louise Daugherty commented on COL1A2
Intellectual disability RHEB Rebecca Foulger added RHEB to panel
Intellectual disability RHEB Rebecca Foulger reviewed RHEB
Skeletal dysplasia VAC14 Rebecca Foulger commented on VAC14
Skeletal dysplasia VAC14 Rebecca Foulger added VAC14 to panel
Skeletal dysplasia VAC14 Rebecca Foulger reviewed VAC14
Glaucoma (developmental) FOXC1 Ellen McDonagh classified FOXC1 as amber
Glaucoma (developmental) SBF2 Ellen McDonagh classified SBF2 as amber
Glaucoma (developmental) PITX2 Ellen McDonagh classified PITX2 as amber
Glaucoma (developmental) DDX58 Ellen McDonagh classified DDX58 as amber
Glaucoma (developmental) GJA1 Ellen McDonagh classified GJA1 as amber
Glaucoma (developmental) FOXE3 Ellen McDonagh classified FOXE3 as amber
Glaucoma (developmental) FOXD3 Ellen McDonagh classified FOXD3 as amber
Glaucoma (developmental) ATOH7 Ellen McDonagh marked ATOH7 as ready
Glaucoma (developmental) WDR36 Ellen McDonagh marked WDR36 as ready
Glaucoma (developmental) WDR36 Ellen McDonagh classified WDR36 as red
Glaucoma (developmental) WDR36 Ellen McDonagh classified WDR36 as amber
Glaucoma (developmental) WDR36 Ellen McDonagh commented on WDR36
Glaucoma (developmental) MYOC Ellen McDonagh marked MYOC as ready
Glaucoma (developmental) MYOC Ellen McDonagh classified MYOC as green
Glaucoma (developmental) MYOC Ellen McDonagh commented on MYOC
Glaucoma (developmental) CYP1B1 Ellen McDonagh marked CYP1B1 as ready
Glaucoma (developmental) CYP1B1 Ellen McDonagh classified CYP1B1 as green
Glaucoma (developmental) CYP1B1 Ellen McDonagh commented on CYP1B1
Glaucoma (developmental) OPA1 Ellen McDonagh marked OPA1 as ready
Glaucoma (developmental) OPA1 Ellen McDonagh classified OPA1 as red
Glaucoma (developmental) OPA1 Ellen McDonagh commented on OPA1
Glaucoma (developmental) ADAMTS10 Ellen McDonagh marked ADAMTS10 as ready
Glaucoma (developmental) ADAMTS17 Ellen McDonagh marked ADAMTS17 as ready
Glaucoma (developmental) ADAMTS17 Ellen McDonagh classified ADAMTS17 as green
Glaucoma (developmental) ADAMTS17 Ellen McDonagh commented on ADAMTS17
Glaucoma (developmental) ADAMTS10 Ellen McDonagh classified ADAMTS10 as green
Glaucoma (developmental) ADAMTS10 Ellen McDonagh classified ADAMTS10 as green
Glaucoma (developmental) ADAMTS10 Ellen McDonagh commented on ADAMTS10
PHACE(S) syndrome Rebecca Foulger promoted panel to version 1
Palmoplantar keratoderma and erythrokeratodermas Rebecca Foulger promoted panel to version 1
Palmoplantar keratoderma and erythrokeratodermas CAST Sarah Leigh commented on CAST
Ehlers Danlos syndrome with a likely monogenic cause TNXB Louise Daugherty commented on TNXB
Ehlers Danlos syndrome with a likely monogenic cause TNXB Louise Daugherty commented on TNXB
Ehlers Danlos syndrome with a likely monogenic cause TNXB Louise Daugherty commented on TNXB
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1
PHACE(S) syndrome KDR Rebecca Foulger commented on KDR
PHACE(S) syndrome KDR Rebecca Foulger commented on KDR
PHACE(S) syndrome FLT4 Rebecca Foulger commented on FLT4
PHACE(S) syndrome DUSP5 Rebecca Foulger commented on DUSP5
PHACE(S) syndrome ANTXR1 Rebecca Foulger commented on ANTXR1
PHACE(S) syndrome AKR1B1 Rebecca Foulger commented on AKR1B1
PHACE(S) syndrome AKR1B1 Rebecca Foulger commented on AKR1B1
PHACE(S) syndrome SLC35B4 Rebecca Foulger commented on SLC35B4
PHACE(S) syndrome SLC35B4 Rebecca Foulger commented on SLC35B4
Skeletal dysplasia FGF9 Sarah Leigh edited their review of FGF9
Skeletal dysplasia FGF9 Sarah Leigh classified FGF9 as red
Skeletal dysplasia FBXW4 Sarah Leigh classified FBXW4 as red
Palmoplantar keratoderma and erythrokeratodermas POMP Rebecca Foulger classified POMP as red
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty commented on COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty commented on COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty edited their review of COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty commented on COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty edited their review of COL5A1
Differences in sex development ATRX Sarah Leigh marked ATRX as ready
Differences in sex development ATRX Sarah Leigh classified ATRX as green
Differences in sex development ATRX Sarah Leigh commented on ATRX
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty commented on COL5A1
Differences in sex development ATRX emma baple added ATRX to panel
Differences in sex development ATRX emma baple reviewed ATRX
Palmoplantar keratoderma and erythrokeratodermas MT-TS1 Helen Brittain reviewed MT-TS1
Palmoplantar keratoderma and erythrokeratodermas LIPH Helen Brittain reviewed LIPH
Palmoplantar keratoderma and erythrokeratodermas TAT Helen Brittain reviewed TAT
Palmoplantar keratoderma and erythrokeratodermas POMP Helen Brittain reviewed POMP
Palmoplantar keratoderma and erythrokeratodermas KRT14 Helen Brittain reviewed KRT14
Palmoplantar keratoderma and erythrokeratodermas KRT10 Helen Brittain reviewed KRT10
Palmoplantar keratoderma and erythrokeratodermas KRT1 Helen Brittain reviewed KRT1
Palmoplantar keratoderma and erythrokeratodermas GJB6 Helen Brittain reviewed GJB6
Palmoplantar keratoderma and erythrokeratodermas GJB2 Helen Brittain reviewed GJB2
Palmoplantar keratoderma and erythrokeratodermas DSG1 Helen Brittain reviewed DSG1
Palmoplantar keratoderma and erythrokeratodermas DSC2 Helen Brittain reviewed DSC2
Palmoplantar keratoderma and erythrokeratodermas CARD14 Helen Brittain reviewed CARD14
Palmoplantar keratoderma and erythrokeratodermas ALOXE3 Helen Brittain reviewed ALOXE3
Palmoplantar keratoderma and erythrokeratodermas ALOX12B Helen Brittain reviewed ALOX12B
Palmoplantar keratoderma and erythrokeratodermas DSG2 Ellen Thomas reviewed DSG2
Palmoplantar keratoderma and erythrokeratodermas DES Ellen Thomas reviewed DES
Palmoplantar keratoderma and erythrokeratodermas GJB6 Rebecca Foulger marked GJB6 as ready
Palmoplantar keratoderma and erythrokeratodermas CARD14 Rebecca Foulger marked CARD14 as ready
Cytopenias and congenital anaemias RPL13 Mary Alikian added RPL13 to panel
Cytopenias and congenital anaemias RPL13 Mary Alikian reviewed RPL13
Cytopenias and congenital anaemias RPL31 Mary Alikian added RPL31 to panel
Cytopenias and congenital anaemias RPL31 Mary Alikian reviewed RPL31
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty commented on PLOD3
Ehlers Danlos syndrome with a likely monogenic cause FBN1 Louise Daugherty reviewed FBN1
Ehlers Danlos syndrome with a likely monogenic cause TGFBR2 Louise Daugherty reviewed TGFBR2
Ehlers Danlos syndrome with a likely monogenic cause TGFBR1 Louise Daugherty reviewed TGFBR1
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty classified PRDM5 as amber
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty classified ZNF469 as amber
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty classified C1S as amber
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty commented on C1S
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty commented on C1S
Monogenic nephrogenic diabetes insipidus AQP2 Olivia Niblock commented on AQP2
Monogenic nephrogenic diabetes insipidus Olivia Niblock approved panel
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as amber
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty classified DSE as amber
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty classified DSE as amber
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty edited their review of DSE
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty classified C1R as amber
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty edited their review of C1R
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty commented on C1R
Monogenic nephrogenic diabetes insipidus Olivia Niblock rejected panel
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty commented on C1R
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty edited their review of DSE
Intellectual disability UBE3A Ellen McDonagh commented on UBE3A
Undiagnosed metabolic disorders SLC35A2 Ellen McDonagh commented on SLC35A2
Intellectual disability SLC35A2 Ellen McDonagh commented on SLC35A2
Infantile enterocolitis & monogenic inflammatory bowel disease HPS4 Ellen McDonagh commented on HPS4
Differences in sex development SRY Ellen McDonagh commented on SRY
Intellectual disability GNAS Ellen McDonagh commented on GNAS
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as amber
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as green
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Differences in sex development WT1 Ellen McDonagh commented on WT1
Skeletal dysplasia OFD1 Ellen McDonagh commented on OFD1
Peroxisomal disorders NSDHL Ellen McDonagh commented on NSDHL
Undiagnosed metabolic disorders NSDHL Ellen McDonagh commented on NSDHL
Skeletal dysplasia NSDHL Ellen McDonagh commented on NSDHL
Rare multisystem ciliopathy disorders NEK1 Ellen McDonagh commented on NEK1
Intellectual disability IKBKG Ellen McDonagh commented on IKBKG
Anophthalmia or microphthalmia HCCS Ellen McDonagh commented on HCCS
Cytopenias and congenital anaemias HBA1 Ellen McDonagh commented on HBA1
Malformations of cortical development FLNA Ellen McDonagh commented on FLNA
Skeletal dysplasia FLNA Ellen McDonagh commented on FLNA
Undiagnosed metabolic disorders EBP Ellen McDonagh commented on EBP
Peroxisomal disorders EBP Ellen McDonagh commented on EBP
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HERC1 Ellen McDonagh commented on HERC1
Intellectual disability HERC1 Ellen McDonagh classified HERC1 as green
Intellectual disability HERC1 Ellen McDonagh commented on HERC1
Intellectual disability GRIN1 Ellen Thomas classified GRIN1 as amber
Intellectual disability GRIN1 Ellen Thomas classified GRIN1 as amber
Intellectual disability GRIN1 Ellen Thomas classified GRIN1 as amber
Intellectual disability GRIN1 Ellen Thomas classified GRIN1 as amber
Intellectual disability GRIN1 Ellen Thomas commented on GRIN1
Palmoplantar keratoderma and erythrokeratodermas POMP Rebecca Foulger commented on POMP
Intellectual disability HERC1 Ellen Thomas added HERC1 to panel
Intellectual disability HERC1 Ellen Thomas reviewed HERC1
Palmoplantar keratoderma and erythrokeratodermas POMP Rebecca Foulger commented on POMP
Palmoplantar keratoderma and erythrokeratodermas POMP Rebecca Foulger classified POMP as green
Palmoplantar keratoderma and erythrokeratodermas KRT10 Rebecca Foulger classified KRT10 as green
Palmoplantar keratoderma and erythrokeratodermas GJB6 Rebecca Foulger classified GJB6 as green
Palmoplantar keratoderma and erythrokeratodermas LIPH Rebecca Foulger marked LIPH as ready
Palmoplantar keratoderma and erythrokeratodermas LIPH Rebecca Foulger classified LIPH as red
Palmoplantar keratoderma and erythrokeratodermas LIPH Rebecca Foulger commented on LIPH
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CDKN1C Louise Daugherty commented on CDKN1C
Segmental overgrowth disorders - Deep sequencing CDKN1C Louise Daugherty edited their review of CDKN1C
Segmental overgrowth disorders - Deep sequencing CDKN1C Louise Daugherty commented on CDKN1C
Palmoplantar keratoderma and erythrokeratodermas CARD14 Rebecca Foulger classified CARD14 as green
Palmoplantar keratoderma and erythrokeratodermas ALOXE3 Rebecca Foulger marked ALOXE3 as ready
Palmoplantar keratoderma and erythrokeratodermas ALOXE3 Rebecca Foulger classified ALOXE3 as green
Palmoplantar keratoderma and erythrokeratodermas ALOX12B Rebecca Foulger marked ALOX12B as ready
Palmoplantar keratoderma and erythrokeratodermas ALOX12B Rebecca Foulger classified ALOX12B as green
Palmoplantar keratoderma and erythrokeratodermas TAT Rebecca Foulger marked TAT as ready
Palmoplantar keratoderma and erythrokeratodermas TAT Rebecca Foulger classified TAT as green
Palmoplantar keratoderma and erythrokeratodermas KRT14 Rebecca Foulger marked KRT14 as ready
Palmoplantar keratoderma and erythrokeratodermas KRT14 Rebecca Foulger classified KRT14 as green
Palmoplantar keratoderma and erythrokeratodermas SLURP1 Rebecca Foulger marked SLURP1 as ready
Palmoplantar keratoderma and erythrokeratodermas KRT1 Rebecca Foulger marked KRT1 as ready
Palmoplantar keratoderma and erythrokeratodermas GJB4 Rebecca Foulger marked GJB4 as ready
Palmoplantar keratoderma and erythrokeratodermas GJB2 Rebecca Foulger marked GJB2 as ready
Palmoplantar keratoderma and erythrokeratodermas DSC2 Rebecca Foulger marked DSC2 as ready
Palmoplantar keratoderma and erythrokeratodermas DSG1 Rebecca Foulger marked DSG1 as ready
Palmoplantar keratoderma and erythrokeratodermas DSC2 Rebecca Foulger classified DSC2 as green
Palmoplantar keratoderma and erythrokeratodermas DSG2 Rebecca Foulger classified DSG2 as red
Palmoplantar keratoderma and erythrokeratodermas DES Rebecca Foulger classified DES as red
Hereditary spastic paraplegia TUBB4A Ellen McDonagh classified TUBB4A as green
Hereditary spastic paraplegia TUBB4A Ellen McDonagh added TUBB4A to panel
Hereditary spastic paraplegia TUBB4A Ellen McDonagh reviewed TUBB4A
Rare multisystem ciliopathy disorders VPS13B Ellen McDonagh classified VPS13B as green
Rare multisystem ciliopathy disorders VPS13B Ellen McDonagh added VPS13B to panel
Rare multisystem ciliopathy disorders VPS13B Ellen McDonagh reviewed VPS13B
Nephrocalcinosis or nephrolithiasis TRPM6 Ellen McDonagh commented on TRPM6
Nephrocalcinosis or nephrolithiasis TRPM6 Ellen McDonagh classified TRPM6 as green
Intellectual disability ALG11 Ellen McDonagh classified ALG11 as green
Intellectual disability ALG11 Ellen McDonagh classified ALG11 as green
Intellectual disability ALG11 Ellen McDonagh commented on ALG11
Hereditary neuropathy MORC2 Ellen McDonagh classified MORC2 as green
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PIK3CA Louise Daugherty added PIK3CA to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PIK3CA Louise Daugherty reviewed PIK3CA
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PPP2R5D Louise Daugherty added PPP2R5D to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PPP2R5D Louise Daugherty reviewed PPP2R5D
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PTEN Louise Daugherty added PTEN to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PTEN Louise Daugherty reviewed PTEN
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders BRWD3 Louise Daugherty added BRWD3 to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders BRWD3 Louise Daugherty reviewed BRWD3
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Louise Daugherty added EED to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Louise Daugherty reviewed EED
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CHD8 Louise Daugherty commented on CHD8
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CHD8 Louise Daugherty edited their review of CHD8
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CHD8 Louise Daugherty added CHD8 to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CHD8 Louise Daugherty reviewed CHD8
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HERC1 Louise Daugherty edited their review of HERC1
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Louise Daugherty commented on HIST1H1E
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Louise Daugherty added HIST1H1E to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Louise Daugherty reviewed HIST1H1E
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Louise Daugherty edited their review of DNMT3A
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Louise Daugherty edited their review of DNMT3A
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HERC1 Louise Daugherty added HERC1 to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HERC1 Louise Daugherty reviewed HERC1
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders CDKN1C Louise Daugherty reviewed CDKN1C
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Louise Daugherty added DNMT3A to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders DNMT3A Louise Daugherty reviewed DNMT3A
Inherited bleeding disorders ADAMTS13 Neil Morgan added ADAMTS13 to panel
Inherited bleeding disorders ADAMTS13 Neil Morgan reviewed ADAMTS13
Paediatric motor neuronopathies SNRPN Ellen McDonagh classified SNRPN as red
Paediatric motor neuronopathies SNRPN Ellen McDonagh commented on SNRPN
Intellectual disability ABHD5 Ellen McDonagh commented on ABHD5
Primary ovarian insufficiency FIGLA Arianna Tucci reviewed FIGLA
Primary ovarian insufficiency BMP15 Arianna Tucci reviewed BMP15
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty added COL12A1 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause ATP7A Louise Daugherty reviewed ATP7A
Ehlers Danlos syndrome with a likely monogenic cause FLNA Louise Daugherty reviewed FLNA
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty edited their review of CHST14
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty commented on SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause PRDM5 Louise Daugherty commented on PRDM5
Ehlers Danlos syndrome with a likely monogenic cause FKBP14 Louise Daugherty commented on FKBP14
Ehlers Danlos syndrome with a likely monogenic cause ZNF469 Louise Daugherty commented on ZNF469
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Louise Daugherty edited their review of ADAMTS2
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Louise Daugherty commented on COL1A2
Ehlers Danlos syndrome with a likely monogenic cause TNXB Louise Daugherty commented on TNXB
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty commented on DSE
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty added DSE to panel
Ehlers Danlos syndrome with a likely monogenic cause DSE Louise Daugherty reviewed DSE
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty commented on C1S
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty commented on C1R
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty added C1R to panel
Ehlers Danlos syndrome with a likely monogenic cause C1R Louise Daugherty reviewed C1R
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty added C1S to panel
Ehlers Danlos syndrome with a likely monogenic cause C1S Louise Daugherty reviewed C1S
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause ADAMTS2 Louise Daugherty commented on ADAMTS2
Hydrocephalus GFAP Helen Brittain reviewed GFAP
Hydrocephalus FANCB Helen Brittain marked FANCB as ready
Hydrocephalus FANCB Helen Brittain classified FANCB as green
Hydrocephalus ARSB Helen Brittain marked ARSB as ready
Hydrocephalus ARSB Helen Brittain classified ARSB as red
Hydrocephalus TTR Helen Brittain marked TTR as ready
Hydrocephalus TTR Helen Brittain classified TTR as red
Hydrocephalus L1CAM Helen Brittain marked L1CAM as ready
Hydrocephalus FANCB Helen Brittain reviewed FANCB
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty commented on PLOD3
Hydrocephalus ARSB Helen Brittain reviewed ARSB
Hydrocephalus TTR Helen Brittain reviewed TTR
Hydrocephalus L1CAM Helen Brittain reviewed L1CAM
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty classified B4GALT7 as green
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty edited their review of B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty edited their review of B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty edited their review of SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty classified B3GALT6 as green
Osteogenesis imperfecta B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty commented on SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty edited their review of PLOD3
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty added PLOD3 to panel
Ehlers Danlos syndrome with a likely monogenic cause PLOD3 Louise Daugherty reviewed PLOD3
Hereditary spastic paraplegia ADAR Arianna Tucci classified ADAR as green
Hereditary spastic paraplegia ADAR Arianna Tucci added ADAR to panel
Hereditary spastic paraplegia ADAR Arianna Tucci reviewed ADAR
Early onset dystonia ADAR Arianna Tucci classified ADAR as green
Early onset dystonia ADAR Arianna Tucci reviewed ADAR
Early onset dystonia CSTB Arianna Tucci classified CSTB as green
Early onset dystonia CSTB Arianna Tucci added CSTB to panel
Early onset dystonia CSTB Arianna Tucci reviewed CSTB
Early onset dystonia ADCY5 Arianna Tucci classified ADCY5 as green
Early onset dystonia ADCY5 Arianna Tucci added ADCY5 to panel
Early onset dystonia ADCY5 Arianna Tucci reviewed ADCY5
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies DUX4 Arianna Tucci added DUX4 to panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies DUX4 Arianna Tucci reviewed DUX4
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Raymond Dalgleish reviewed B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Raymond Dalgleish reviewed B3GALT6
Skeletal dysplasia SHFM1 Louise Daugherty commented on SHFM1
Skeletal dysplasia SHFM1 Louise Daugherty classified SHFM1 as red
Inherited bleeding disorders C6orf25 Louise Daugherty commented on C6orf25
Cerebral vascular malformations CECR1 Louise Daugherty commented on CECR1
Early onset dystonia PARK2 Louise Daugherty commented on PARK2
Parkinson Disease and Complex Parkinsonism PARK2 Louise Daugherty commented on PARK2
Familial dysautonomia FAM134B Louise Daugherty commented on FAM134B
Hereditary neuropathy FAM134B Louise Daugherty commented on FAM134B
Rare multisystem ciliopathy disorders DYX1C1 Louise Daugherty commented on DYX1C1
Primary ciliary disorders DYX1C1 Louise Daugherty commented on DYX1C1
Hereditary ataxia CSTB Arianna Tucci added CSTB to panel
Hereditary ataxia CSTB Arianna Tucci reviewed CSTB
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci marked AR as ready
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci classified AR as green
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci added AR to panel
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci reviewed AR
Familial pulmonary fibrosis NF1 Ellen McDonagh classified NF1 as red
Familial pulmonary fibrosis NF1 Ellen McDonagh commented on NF1
Familial pulmonary fibrosis TSC2 Ellen McDonagh classified TSC2 as red
Familial pulmonary fibrosis TSC2 Ellen McDonagh commented on TSC2
Familial pulmonary fibrosis TSC1 Ellen McDonagh classified TSC1 as red
Familial pulmonary fibrosis TSC1 Ellen McDonagh commented on TSC1
Palmoplantar keratoderma and erythrokeratodermas FAM83G Rebecca Foulger marked FAM83G as ready
Palmoplantar keratoderma and erythrokeratodermas KANK2 Rebecca Foulger marked KANK2 as ready
Palmoplantar keratoderma and erythrokeratodermas SASH1 Rebecca Foulger marked SASH1 as ready
Palmoplantar keratoderma and erythrokeratodermas SASH1 Rebecca Foulger classified SASH1 as red
Palmoplantar keratoderma and erythrokeratodermas KRT14 Rebecca Foulger classified KRT14 as amber
Palmoplantar keratoderma and erythrokeratodermas KRT14 Rebecca Foulger commented on KRT14
Palmoplantar keratoderma and erythrokeratodermas KRT10 Rebecca Foulger commented on KRT10
Palmoplantar keratoderma and erythrokeratodermas KANK2 Rebecca Foulger classified KANK2 as red
Palmoplantar keratoderma and erythrokeratodermas GJB6 Rebecca Foulger commented on GJB6
Palmoplantar keratoderma and erythrokeratodermas GJB6 Rebecca Foulger commented on GJB6
Palmoplantar keratoderma and erythrokeratodermas GJB6 Rebecca Foulger commented on GJB6
Palmoplantar keratoderma and erythrokeratodermas FAM83G Rebecca Foulger classified FAM83G as red
Palmoplantar keratoderma and erythrokeratodermas CARD14 Rebecca Foulger commented on CARD14
Palmoplantar keratoderma and erythrokeratodermas ALOXE3 Rebecca Foulger commented on ALOXE3
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger marked GJB3 as ready
Palmoplantar keratoderma and erythrokeratodermas GJB3 Rebecca Foulger classified GJB3 as green
Palmoplantar keratoderma and erythrokeratodermas RSPO1 Rebecca Foulger marked RSPO1 as ready
Palmoplantar keratoderma and erythrokeratodermas CAST Rebecca Foulger marked CAST as ready
Bilateral congenital or childhood onset cataracts MSMO1 Sarah Leigh classified MSMO1 as green
Bilateral congenital or childhood onset cataracts MSMO1 Sarah Leigh added MSMO1 to panel
Bilateral congenital or childhood onset cataracts MSMO1 Sarah Leigh reviewed MSMO1
Intellectual disability MSMO1 Sarah Leigh classified MSMO1 as green
Intellectual disability MSMO1 Sarah Leigh classified MSMO1 as green
Intellectual disability MSMO1 Sarah Leigh added MSMO1 to panel
Intellectual disability MSMO1 Sarah Leigh reviewed MSMO1
Hereditary ataxia MTTP Sarah Leigh classified MTTP as green
Hereditary ataxia MTTP Sarah Leigh added MTTP to panel
Hereditary ataxia MTTP Sarah Leigh reviewed MTTP
Intellectual disability MOGS Sarah Leigh classified MOGS as green
Intellectual disability MOGS Sarah Leigh commented on MOGS
Cytopenias and congenital anaemias UROS Sarah Leigh commented on UROS
Cytopenias and congenital anaemias UROS Sarah Leigh classified UROS as green
Cytopenias and congenital anaemias UROS Sarah Leigh added UROS to panel
Cytopenias and congenital anaemias UROS Sarah Leigh reviewed UROS
Rhabdomyolysis and metabolic muscle disorders TSFM Sarah Leigh classified TSFM as green
Intellectual disability TSFM Sarah Leigh classified TSFM as green
Intellectual disability TSFM Sarah Leigh added TSFM to panel
Intellectual disability TSFM Sarah Leigh reviewed TSFM
Hypertrophic cardiomyopathy TSFM Sarah Leigh classified TSFM as green
Hypertrophic cardiomyopathy TSFM Sarah Leigh commented on TSFM
Rhabdomyolysis and metabolic muscle disorders TSFM Sarah Leigh added TSFM to panel
Rhabdomyolysis and metabolic muscle disorders TSFM Sarah Leigh reviewed TSFM
Diabetes with additional phenotypes suggestive of a monogenic aetiology TFR2 Sarah Leigh classified TFR2 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology TFR2 Sarah Leigh added TFR2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology TFR2 Sarah Leigh reviewed TFR2
Hypogonadotropic hypogonadism TFR2 Sarah Leigh classified TFR2 as green
Hypogonadotropic hypogonadism TFR2 Sarah Leigh added TFR2 to panel
Hypogonadotropic hypogonadism TFR2 Sarah Leigh reviewed TFR2
Hypogonadotropic hypogonadism SLC40A1 Sarah Leigh classified SLC40A1 as green
Hypogonadotropic hypogonadism SLC40A1 Sarah Leigh added SLC40A1 to panel
Hypogonadotropic hypogonadism SLC40A1 Sarah Leigh reviewed SLC40A1
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC40A1 Sarah Leigh classified SLC40A1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC40A1 Sarah Leigh added SLC40A1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC40A1 Sarah Leigh reviewed SLC40A1
Intellectual disability SLC39A8 Sarah Leigh classified SLC39A8 as green
Intellectual disability SLC39A8 Sarah Leigh classified SLC39A8 as green
Intellectual disability SLC39A8 Sarah Leigh added SLC39A8 to panel
Intellectual disability SLC39A8 Sarah Leigh reviewed SLC39A8
Hypertrophic cardiomyopathy SLC25A3 Sarah Leigh classified SLC25A3 as green
Hypertrophic cardiomyopathy SLC25A3 Sarah Leigh commented on SLC25A3
Early onset dystonia VAC14 Sarah Leigh classified VAC14 as green
Early onset dystonia VAC14 Sarah Leigh added VAC14 to panel
Early onset dystonia VAC14 Sarah Leigh reviewed VAC14
Intellectual disability SLC39A14 Sarah Leigh added SLC39A14 to panel
Intellectual disability SLC39A14 Sarah Leigh reviewed SLC39A14
Parkinson Disease and Complex Parkinsonism SLC39A14 Sarah Leigh classified SLC39A14 as green
Parkinson Disease and Complex Parkinsonism SLC39A14 Sarah Leigh added SLC39A14 to panel
Parkinson Disease and Complex Parkinsonism SLC39A14 Sarah Leigh reviewed SLC39A14
Early onset dystonia SLC39A14 Sarah Leigh added SLC39A14 to panel
Early onset dystonia SLC39A14 Sarah Leigh reviewed SLC39A14
Early onset dystonia MECR Sarah Leigh classified MECR as green
Early onset dystonia MECR Sarah Leigh added MECR to panel
Early onset dystonia MECR Sarah Leigh reviewed MECR
Mitochondrial disorders NDUFAF6 Sarah Leigh classified NDUFAF6 as green
Mitochondrial disorders NDUFAF6 Sarah Leigh commented on NDUFAF6
Severe microcephaly MSMO1 Sarah Leigh classified MSMO1 as green
Severe microcephaly MSMO1 Sarah Leigh commented on MSMO1
Congenital disorders of glycosylation MOGS Sarah Leigh classified MOGS as green
Nephrocalcinosis or nephrolithiasis XDH Sarah Leigh classified XDH as green
Nephrocalcinosis or nephrolithiasis XDH Sarah Leigh commented on XDH
Mitochondrial disorders TSFM Sarah Leigh classified TSFM as green
Mitochondrial disorders TSFM Sarah Leigh commented on TSFM
Palmoplantar keratoderma and erythrokeratodermas CAST Rebecca Foulger classified CAST as green
Palmoplantar keratoderma and erythrokeratodermas CAST Rebecca Foulger commented on CAST
Palmoplantar keratoderma and erythrokeratodermas SLURP1 Rebecca Foulger classified SLURP1 as green
Undiagnosed metabolic disorders SLC5A1 Sarah Leigh commented on SLC5A1
Undiagnosed metabolic disorders SLC39A4 Sarah Leigh commented on SLC39A4
Familial pulmonary fibrosis NF1 Louise Daugherty reviewed NF1
Familial pulmonary fibrosis TSC2 Louise Daugherty reviewed TSC2
Familial pulmonary fibrosis TSC1 Louise Daugherty reviewed TSC1
Mitochondrial disorders SLC25A3 Sarah Leigh classified SLC25A3 as green
Palmoplantar keratoderma and erythrokeratodermas SERPINB7 Rebecca Foulger marked SERPINB7 as ready
Palmoplantar keratoderma and erythrokeratodermas SERPINB7 Rebecca Foulger classified SERPINB7 as green
Palmoplantar keratoderma and erythrokeratodermas RSPO1 Rebecca Foulger classified RSPO1 as green
Proteinuric renal disease LCAT Sarah Leigh classified LCAT as green
Proteinuric renal disease LCAT Sarah Leigh added LCAT to panel
Proteinuric renal disease LCAT Sarah Leigh reviewed LCAT
Bilateral congenital or childhood onset cataracts LCAT Sarah Leigh added LCAT to panel
Bilateral congenital or childhood onset cataracts LCAT Sarah Leigh reviewed LCAT
Dilated Cardiomyopathy and conduction defects IDH2 Sarah Leigh classified IDH2 as green
Dilated Cardiomyopathy and conduction defects IDH2 Sarah Leigh added IDH2 to panel
Dilated Cardiomyopathy and conduction defects IDH2 Sarah Leigh reviewed IDH2
Palmoplantar keratoderma and erythrokeratodermas RHBDF2 Rebecca Foulger marked RHBDF2 as ready
Palmoplantar keratoderma and erythrokeratodermas RHBDF2 Rebecca Foulger classified RHBDF2 as green
Intellectual disability IDH2 Sarah Leigh classified IDH2 as green
Intellectual disability IDH2 Sarah Leigh added IDH2 to panel
Intellectual disability IDH2 Sarah Leigh reviewed IDH2
Hypogonadotropic hypogonadism HFE2 Sarah Leigh added HFE2 to panel
Hypogonadotropic hypogonadism HFE2 Sarah Leigh reviewed HFE2
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE2 Sarah Leigh classified HFE2 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE2 Sarah Leigh added HFE2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE2 Sarah Leigh reviewed HFE2
Dilated Cardiomyopathy and conduction defects HFE2 Sarah Leigh classified HFE2 as green
Dilated Cardiomyopathy and conduction defects HFE2 Sarah Leigh added HFE2 to panel
Dilated Cardiomyopathy and conduction defects HFE2 Sarah Leigh reviewed HFE2
Dilated Cardiomyopathy and conduction defects HFE Sarah Leigh commented on HFE
Dilated Cardiomyopathy and conduction defects HFE Sarah Leigh classified HFE as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE Sarah Leigh classified HFE as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE Sarah Leigh reviewed HFE
Hypogonadotropic hypogonadism HFE Sarah Leigh classified HFE as green
Hypogonadotropic hypogonadism HFE Sarah Leigh added HFE to panel
Hypogonadotropic hypogonadism HFE Sarah Leigh reviewed HFE
Clefting SLC26A2 Louise Daugherty classified SLC26A2 as amber
Undiagnosed metabolic disorders RANBP2 Sarah Leigh commented on RANBP2
Clefting HOXA2 Louise Daugherty classified HOXA2 as red
Clefting KDM1A Louise Daugherty classified KDM1A as red
Intellectual disability SLC25A1 Sarah Leigh classified SLC25A1 as green
Intellectual disability SLC25A1 Sarah Leigh added SLC25A1 to panel
Intellectual disability SLC25A1 Sarah Leigh reviewed SLC25A1
Hereditary ataxia SAR1B Sarah Leigh commented on SAR1B
Clefting HOXA2 Louise Daugherty edited their review of HOXA2
Hereditary ataxia SAR1B Sarah Leigh classified SAR1B as green
Hereditary ataxia SAR1B Sarah Leigh added SAR1B to panel
Hereditary ataxia SAR1B Sarah Leigh reviewed SAR1B
Inherited white matter disorders MFF Sarah Leigh added MFF to panel
Inherited white matter disorders MFF Sarah Leigh reviewed MFF
Intellectual disability MFF Sarah Leigh classified MFF as green
Intellectual disability MFF Sarah Leigh added MFF to panel
Intellectual disability MFF Sarah Leigh reviewed MFF
Clefting BMP4 Louise Daugherty classified BMP4 as red
Palmoplantar keratoderma and erythrokeratodermas JUP Rebecca Foulger marked JUP as ready
Palmoplantar keratoderma and erythrokeratodermas JUP Rebecca Foulger classified JUP as green
Familial disseminated superficial actinic porokeratosis MVK Rebecca Foulger classified MVK as green
Familial disseminated superficial actinic porokeratosis SLC17A9 Veronica Kinsler reviewed SLC17A9
Familial disseminated superficial actinic porokeratosis MVK Veronica Kinsler reviewed MVK
Glaucoma (developmental) SBF2 Chris Campbell reviewed SBF2
Glaucoma (developmental) PITX2 Chris Campbell reviewed PITX2
Glaucoma (developmental) OPTN Chris Campbell reviewed OPTN
Glaucoma (developmental) OPA1 Chris Campbell reviewed OPA1
Glaucoma (developmental) MYOC Chris Campbell reviewed MYOC
Glaucoma (developmental) LTBP2 Chris Campbell reviewed LTBP2
Glaucoma (developmental) GJA1 Chris Campbell reviewed GJA1
Glaucoma (developmental) FOXE3 Chris Campbell reviewed FOXE3
Glaucoma (developmental) FOXD3 Chris Campbell reviewed FOXD3
Glaucoma (developmental) FOXC1 Chris Campbell reviewed FOXC1
Glaucoma (developmental) DDX58 Chris Campbell reviewed DDX58
Glaucoma (developmental) CYP1B1 Chris Campbell reviewed CYP1B1
Glaucoma (developmental) ATOH7 Chris Campbell reviewed ATOH7
Glaucoma (developmental) ADAMTS17 Chris Campbell reviewed ADAMTS17
Glaucoma (developmental) ADAMTS10 Chris Campbell reviewed ADAMTS10
Mitochondrial disorders MFF Sarah Leigh classified MFF as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology HAMP Sarah Leigh classified HAMP as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology HAMP Sarah Leigh added HAMP to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology HAMP Sarah Leigh reviewed HAMP
Hypogonadotropic hypogonadism HAMP Sarah Leigh classified HAMP as green
Hypogonadotropic hypogonadism HAMP Sarah Leigh added HAMP to panel
Hypogonadotropic hypogonadism HAMP Sarah Leigh reviewed HAMP
Dilated Cardiomyopathy and conduction defects HAMP Sarah Leigh classified HAMP as green
Dilated Cardiomyopathy and conduction defects HAMP Sarah Leigh added HAMP to panel
Dilated Cardiomyopathy and conduction defects HAMP Sarah Leigh reviewed HAMP
Palmoplantar keratoderma and erythrokeratodermas GJB4 Rebecca Foulger classified GJB4 as green
Palmoplantar keratoderma and erythrokeratodermas GJB4 Rebecca Foulger classified GJB4 as green
Intellectual disability GLYCTK Sarah Leigh commented on GLYCTK
Intellectual disability GLYCTK Sarah Leigh classified GLYCTK as green
Intellectual disability GLYCTK Sarah Leigh added GLYCTK to panel
Intellectual disability GLYCTK Sarah Leigh reviewed GLYCTK
Inherited white matter disorders DPYD Sarah Leigh classified DPYD as green
Inherited white matter disorders DPYD Sarah Leigh commented on DPYD
Inherited white matter disorders DPYD Sarah Leigh added DPYD to panel
Inherited white matter disorders DPYD Sarah Leigh reviewed DPYD
Intellectual disability DPYD Sarah Leigh marked DPYD as ready
Intellectual disability DPYD Sarah Leigh commented on DPYD
Intellectual disability DPYD Sarah Leigh classified DPYD as green
Structural basal ganglia disorders Sarah Leigh promoted panel to version 1
Structural basal ganglia disorders FOXP2 Sarah Leigh marked FOXP2 as ready
Structural basal ganglia disorders FOXP2 Sarah Leigh commented on FOXP2
Structural basal ganglia disorders VPS13A Sarah Leigh commented on VPS13A
Structural basal ganglia disorders VPS13A Sarah Leigh marked VPS13A as ready
Structural basal ganglia disorders VPS13A Sarah Leigh classified VPS13A as green
Structural basal ganglia disorders TUBB4A Sarah Leigh classified TUBB4A as green
Structural basal ganglia disorders TUBB4A Sarah Leigh marked TUBB4A as ready
Structural basal ganglia disorders TUBB4A Sarah Leigh commented on TUBB4A
Structural basal ganglia disorders PDGFRB Sarah Leigh marked PDGFRB as ready
Structural basal ganglia disorders PDGFRB Sarah Leigh commented on PDGFRB
Structural basal ganglia disorders PDGFRB Sarah Leigh classified PDGFRB as green
Structural basal ganglia disorders OCLN Sarah Leigh marked OCLN as ready
Structural basal ganglia disorders OCLN Sarah Leigh commented on OCLN
Structural basal ganglia disorders OCLN Sarah Leigh classified OCLN as green
Structural basal ganglia disorders BDNF Sarah Leigh marked BDNF as ready
Structural basal ganglia disorders BDNF Sarah Leigh commented on BDNF
Structural basal ganglia disorders BDNF Sarah Leigh classified BDNF as red
Structural basal ganglia disorders AP1S2 Sarah Leigh marked AP1S2 as ready
Structural basal ganglia disorders AP1S2 Sarah Leigh classified AP1S2 as green
Structural basal ganglia disorders SLC39A14 Sarah Leigh edited their review of SLC39A14
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger marked GJA1 as ready
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger classified GJA1 as green
Palmoplantar keratoderma and erythrokeratodermas GJA1 Rebecca Foulger commented on GJA1
Glaucoma (developmental) ABCA4 Chris Campbell classified ABCA4 as red
Hyperthyroidism Louise Daugherty promoted panel to version 1
Hyperthyroidism TRU-TCA1-1 Louise Daugherty marked TRU-TCA1-1 as ready
Hyperthyroidism THRB Louise Daugherty marked THRB as ready
Hyperthyroidism THRA Louise Daugherty marked THRA as ready
Hyperthyroidism SLC16A2 Louise Daugherty marked SLC16A2 as ready
Hyperthyroidism SECISBP2 Louise Daugherty marked SECISBP2 as ready
Nephrocalcinosis or nephrolithiasis TRPM6 Ellen McDonagh commented on TRPM6
Hyperthyroidism TRU-TCA1-1 Louise Daugherty classified TRU-TCA1-1 as red
Hyperthyroidism THRA Louise Daugherty classified THRA as green
Intellectual disability ZSWIM6 Ellen McDonagh commented on ZSWIM6
Rare multisystem ciliopathy disorders ZSWIM6 Ellen McDonagh commented on ZSWIM6
Hereditary neuropathy MME Ellen McDonagh classified MME as amber
Hereditary neuropathy MME Ellen McDonagh commented on MME
Hyperthyroidism SECISBP2 Louise Daugherty classified SECISBP2 as green
Hyperthyroidism TRU-TCA1-1 Louise Daugherty edited their review of TRU-TCA1-1
Hyperthyroidism SLC16A2 Louise Daugherty reviewed SLC16A2
Hyperthyroidism THRB Louise Daugherty reviewed THRB
Hereditary neuropathy MORC2 Ellen McDonagh classified MORC2 as amber
Hereditary neuropathy MORC2 Ellen McDonagh added MORC2 to panel
Hereditary neuropathy MORC2 Ellen McDonagh reviewed MORC2
Hyperthyroidism THRA Louise Daugherty edited their review of THRA
Hyperthyroidism SECISBP2 Louise Daugherty edited their review of SECISBP2
Retinal disorders MT-ND6 Ellen McDonagh commented on MT-ND6
Palmoplantar keratoderma and erythrokeratodermas SLURP1 Edel O'Toole reviewed SLURP1
Palmoplantar keratoderma and erythrokeratodermas CAST Edel O'Toole added CAST to panel
Palmoplantar keratoderma and erythrokeratodermas CAST Edel O'Toole reviewed CAST
Palmoplantar keratoderma and erythrokeratodermas SERPINB7 Edel O'Toole reviewed SERPINB7
Palmoplantar keratoderma and erythrokeratodermas RSPO1 Edel O'Toole reviewed RSPO1
Palmoplantar keratoderma and erythrokeratodermas RHBDF2 Edel O'Toole reviewed RHBDF2
Palmoplantar keratoderma and erythrokeratodermas JUP Edel O'Toole reviewed JUP
Palmoplantar keratoderma and erythrokeratodermas GJB4 Edel O'Toole reviewed GJB4
Palmoplantar keratoderma and erythrokeratodermas GJB3 Edel O'Toole reviewed GJB3
Palmoplantar keratoderma and erythrokeratodermas GJA1 Edel O'Toole reviewed GJA1
Palmoplantar keratoderma and erythrokeratodermas KRT6C Edel O'Toole reviewed KRT6C
Structural basal ganglia disorders AP1S2 Sarah Leigh commented on AP1S2
Structural basal ganglia disorders AIFM1 Sarah Leigh marked AIFM1 as ready
Structural basal ganglia disorders AIFM1 Sarah Leigh commented on AIFM1
Structural basal ganglia disorders AIFM1 Sarah Leigh classified AIFM1 as red
Structural basal ganglia disorders WDR45 Sarah Leigh marked WDR45 as ready
Structural basal ganglia disorders WDR45 Sarah Leigh commented on WDR45
Structural basal ganglia disorders WDR45 Sarah Leigh classified WDR45 as green
Undiagnosed metabolic disorders WDR45 Sarah Leigh marked WDR45 as ready
Undiagnosed metabolic disorders WDR45 Sarah Leigh classified WDR45 as green
Structural basal ganglia disorders VAC14 Sarah Leigh commented on VAC14
Structural basal ganglia disorders VAC14 Sarah Leigh marked VAC14 as ready
Structural basal ganglia disorders VAC14 Sarah Leigh classified VAC14 as green
Hyperthyroidism THRA Louise Daugherty commented on THRA
Structural basal ganglia disorders SUOX Sarah Leigh marked SUOX as ready
Structural basal ganglia disorders SUOX Sarah Leigh commented on SUOX
Structural basal ganglia disorders SUOX Sarah Leigh classified SUOX as red
Undiagnosed metabolic disorders SLC39A14 Sarah Leigh classified SLC39A14 as green
Hyperthyroidism SECISBP2 Louise Daugherty commented on SECISBP2
Undiagnosed metabolic disorders SLC39A14 Sarah Leigh added SLC39A14 to panel
Undiagnosed metabolic disorders SLC39A14 Sarah Leigh reviewed SLC39A14
Hyperthyroidism TRU-TCA1-1 Louise Daugherty commented on TRU-TCA1-1
Structural basal ganglia disorders SLC39A14 Sarah Leigh marked SLC39A14 as ready
Structural basal ganglia disorders SLC39A14 Sarah Leigh commented on SLC39A14
Structural basal ganglia disorders SLC39A14 Sarah Leigh classified SLC39A14 as green
Structural basal ganglia disorders SLC30A10 Sarah Leigh edited their review of SLC30A10
Structural basal ganglia disorders SLC30A10 Sarah Leigh marked SLC30A10 as ready
Structural basal ganglia disorders SLC30A10 Sarah Leigh commented on SLC30A10
Structural basal ganglia disorders SLC30A10 Sarah Leigh classified SLC30A10 as green
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh commented on SLC30A10
Structural basal ganglia disorders SLC25A19 Sarah Leigh marked SLC25A19 as ready
Structural basal ganglia disorders SLC25A19 Sarah Leigh commented on SLC25A19
Structural basal ganglia disorders SLC25A19 Sarah Leigh classified SLC25A19 as green
COVID-19 research Ellen McDonagh approved panel
Hereditary Erythrocytosis Ellen McDonagh approved panel
Familial disseminated superficial actinic porokeratosis SART3 Rebecca Foulger commented on SART3
Pulmonary arterial hypertension Ellen McDonagh approved panel
Short QT syndrome Ellen McDonagh approved panel
Ductal plate malformation Ellen McDonagh approved panel
Familial Hirschsprung Disease Ellen McDonagh approved panel
Amelogenesis imperfecta Ellen McDonagh approved panel
Membranoproliferative glomerulonephritis including C3 glomerulopathy Ellen McDonagh approved panel
Familial disseminated superficial actinic porokeratosis MVK Rebecca Foulger commented on MVK
Idiopathic ventricular fibrillation Ellen McDonagh approved panel
Familial disseminated superficial actinic porokeratosis PMVK Rebecca Foulger commented on PMVK
COVID-19 research UNC93B1 Ellen McDonagh added UNC93B1 to panel
COVID-19 research UNC93B1 Ellen McDonagh reviewed UNC93B1
Familial disseminated superficial actinic porokeratosis SLC17A9 Rebecca Foulger commented on SLC17A9
COVID-19 research IRF7 Ellen McDonagh added IRF7 to panel
COVID-19 research IRF7 Ellen McDonagh reviewed IRF7
Familial disseminated superficial actinic porokeratosis PMVK Rebecca Foulger commented on PMVK
COVID-19 research TMC8 Ellen McDonagh commented on TMC8
COVID-19 research TMC8 Ellen McDonagh added TMC8 to panel
COVID-19 research TMC8 Ellen McDonagh reviewed TMC8
COVID-19 research TMC6 Ellen McDonagh added TMC6 to panel
COVID-19 research TMC6 Ellen McDonagh reviewed TMC6
Familial disseminated superficial actinic porokeratosis PMVK Rebecca Foulger added PMVK to panel
Familial disseminated superficial actinic porokeratosis PMVK Rebecca Foulger reviewed PMVK
Familial disseminated superficial actinic porokeratosis MVD Rebecca Foulger commented on MVD
Hereditary Erythrocytosis EPAS1 Ellen McDonagh added EPAS1 to panel
Hereditary Erythrocytosis EPAS1 Ellen McDonagh reviewed EPAS1
Hereditary Erythrocytosis EGLN1 Ellen McDonagh added EGLN1 to panel
Hereditary Erythrocytosis EGLN1 Ellen McDonagh reviewed EGLN1
Familial disseminated superficial actinic porokeratosis MVK Rebecca Foulger commented on MVK
Hereditary Erythrocytosis VHL Ellen McDonagh added VHL to panel
Hereditary Erythrocytosis VHL Ellen McDonagh reviewed VHL
Hereditary Erythrocytosis EPOR Ellen McDonagh added EPOR to panel
Hereditary Erythrocytosis EPOR Ellen McDonagh reviewed EPOR
Familial disseminated superficial actinic porokeratosis FDPS Rebecca Foulger commented on FDPS
Familial disseminated superficial actinic porokeratosis MVK Rebecca Foulger commented on MVK
Cytopenias and congenital anaemias RPS28 Louise Daugherty added RPS28 to panel
Cytopenias and congenital anaemias RPS28 Louise Daugherty reviewed RPS28
Cytopenias and congenital anaemias TSR2 Louise Daugherty added TSR2 to panel
Cytopenias and congenital anaemias TSR2 Louise Daugherty reviewed TSR2
Cytopenias and congenital anaemias GATA1 Louise Daugherty commented on GATA1
Cytopenias and congenital anaemias GCLC Louise Daugherty classified GCLC as green
Cytopenias and congenital anaemias GCLC Louise Daugherty edited their review of GCLC
Cytopenias and congenital anaemias GCLC Louise Daugherty reviewed GCLC
Palmoplantar keratoderma and erythrokeratodermas ALOX12B Rebecca Foulger commented on ALOX12B
Palmoplantar keratoderma and erythrokeratodermas TRPV3 Rebecca Foulger marked TRPV3 as ready
Palmoplantar keratoderma and erythrokeratodermas TRPV3 Rebecca Foulger classified TRPV3 as green
Palmoplantar keratoderma and erythrokeratodermas ENPP1 Rebecca Foulger marked ENPP1 as ready
Palmoplantar keratoderma and erythrokeratodermas ENPP1 Rebecca Foulger classified ENPP1 as green
Palmoplantar keratoderma and erythrokeratodermas AQP5 Rebecca Foulger marked AQP5 as ready
Palmoplantar keratoderma and erythrokeratodermas AQP5 Rebecca Foulger classified AQP5 as green
Cytopenias and congenital anaemias Arianna Tucci promoted panel to version 1
Cytopenias and congenital anaemias HBA1 Arianna Tucci marked HBA1 as ready
Cytopenias and congenital anaemias HBD Arianna Tucci commented on HBD
Cytopenias and congenital anaemias HBD Arianna Tucci reviewed HBD
Cytopenias and congenital anaemias HBG2 Arianna Tucci marked HBG2 as ready
Cytopenias and congenital anaemias HBG2 Arianna Tucci commented on HBG2
Cytopenias and congenital anaemias HBG2 Arianna Tucci classified HBG2 as red
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci edited their review of HBG1
Cytopenias and congenital anaemias HBG1 Arianna Tucci classified HBG1 as red
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci classified HBG1 as green
Cytopenias and congenital anaemias HBG1 Arianna Tucci reviewed HBG1
Cytopenias and congenital anaemias HBB Arianna Tucci marked HBB as ready
Cytopenias and congenital anaemias HBB Arianna Tucci classified HBB as green
Cytopenias and congenital anaemias HBA2 Arianna Tucci marked HBA2 as ready
Cytopenias and congenital anaemias HBA2 Arianna Tucci marked HBA2 as ready
Cytopenias and congenital anaemias HBA2 Arianna Tucci classified HBA2 as green
Cytopenias and congenital anaemias HBB Arianna Tucci reviewed HBB
Cytopenias and congenital anaemias HBA2 Arianna Tucci edited their review of HBA2
Cytopenias and congenital anaemias HBA2 Arianna Tucci reviewed HBA2
Cytopenias and congenital anaemias HBA1 Arianna Tucci reviewed HBA1
Cytopenias and congenital anaemias HBA1 Arianna Tucci commented on HBA1
Cytopenias and congenital anaemias HBA1 Arianna Tucci classified HBA1 as green
Cytopenias and congenital anaemias BRCA1 Helen Brittain marked BRCA1 as ready
Cytopenias and congenital anaemias BRCA1 Helen Brittain commented on BRCA1
Cytopenias and congenital anaemias TERT Arianna Tucci marked TERT as ready
Cytopenias and congenital anaemias TERT Arianna Tucci commented on TERT
Cytopenias and congenital anaemias TCN2 Arianna Tucci marked TCN2 as ready
Cytopenias and congenital anaemias TCN2 Arianna Tucci marked TCN2 as ready
Cytopenias and congenital anaemias TCN2 Arianna Tucci marked TCN2 as ready
Cytopenias and congenital anaemias TCN2 Arianna Tucci commented on TCN2
Cytopenias and congenital anaemias TAZ Arianna Tucci marked TAZ as ready
Cytopenias and congenital anaemias TAZ Arianna Tucci commented on TAZ
Cytopenias and congenital anaemias RMRP Arianna Tucci marked RMRP as ready
Cytopenias and congenital anaemias RMRP Arianna Tucci commented on RMRP
Cytopenias and congenital anaemias NBN Arianna Tucci marked NBN as ready
Cytopenias and congenital anaemias MPL Arianna Tucci marked MPL as ready
Cytopenias and congenital anaemias MPL Arianna Tucci commented on MPL
Cytopenias and congenital anaemias GFI1 Arianna Tucci marked GFI1 as ready
Cytopenias and congenital anaemias GFI1 Arianna Tucci commented on GFI1
Cytopenias and congenital anaemias DHFR Arianna Tucci marked DHFR as ready
Thoracic aortic aneurysm or dissection LOX Bill Newman added LOX to panel
Thoracic aortic aneurysm or dissection LOX Bill Newman reviewed LOX
Palmoplantar keratoderma and erythrokeratodermas KANK2 Veronica Kinsler reviewed KANK2
Palmoplantar keratoderma and erythrokeratodermas AQP5 Veronica Kinsler reviewed AQP5
Palmoplantar keratoderma and erythrokeratodermas ENPP1 Veronica Kinsler reviewed ENPP1
Palmoplantar keratoderma and erythrokeratodermas TRPV3 Veronica Kinsler reviewed TRPV3
Palmoplantar keratoderma and erythrokeratodermas AAGAB Veronica Kinsler reviewed AAGAB
Cytopenias and congenital anaemias HBA2 Sarah Leigh commented on HBA2
Cytopenias and congenital anaemias HBA1 Sarah Leigh commented on HBA1
Cytopenias and congenital anaemias CEBPA Sarah Leigh commented on CEBPA
Cytopenias and congenital anaemias RPL26 Sarah Leigh reviewed RPL26
Cytopenias and congenital anaemias RPS29 Sarah Leigh reviewed RPS29
Cytopenias and congenital anaemias RPL15 Sarah Leigh reviewed RPL15
Cytopenias and congenital anaemias HOXA11 Sarah Leigh reviewed HOXA11
Cytopenias and congenital anaemias ERCC6L2 Sarah Leigh reviewed ERCC6L2
Cytopenias and congenital anaemias TAZ Sarah Leigh edited their review of TAZ
Cytopenias and congenital anaemias ITGA2B Sarah Leigh reviewed ITGA2B
Cytopenias and congenital anaemias TERT Sarah Leigh reviewed TERT
Cytopenias and congenital anaemias NBN Sarah Leigh reviewed NBN
Cytopenias and congenital anaemias IFNG Sarah Leigh reviewed IFNG
Cytopenias and congenital anaemias GLRX5 Sarah Leigh edited their review of GLRX5
Cytopenias and congenital anaemias HEPH Olivia Niblock reviewed HEPH
Cytopenias and congenital anaemias POLR3GL Olivia Niblock reviewed POLR3GL
Cytopenias and congenital anaemias PIAS3 Olivia Niblock reviewed PIAS3
Cytopenias and congenital anaemias PEX11B Olivia Niblock reviewed PEX11B
Cytopenias and congenital anaemias NUDT1 Olivia Niblock reviewed NUDT1
Cytopenias and congenital anaemias LIX1L Olivia Niblock reviewed LIX1L
Cytopenias and congenital anaemias ITGA10 Olivia Niblock reviewed ITGA10
Cytopenias and congenital anaemias HFE2 Olivia Niblock reviewed HFE2
Cytopenias and congenital anaemias GNRHR2 Olivia Niblock reviewed GNRHR2
Cytopenias and congenital anaemias ANKRD35 Olivia Niblock reviewed ANKRD35
Cytopenias and congenital anaemias ANKRD34A Olivia Niblock reviewed ANKRD34A
Cytopenias and congenital anaemias RMRP Olivia Niblock reviewed RMRP
Cytopenias and congenital anaemias MYD88 Olivia Niblock reviewed MYD88
Cytopenias and congenital anaemias ITGB3 Helen Brittain reviewed ITGB3
Cytopenias and congenital anaemias RAC2 Helen Brittain reviewed RAC2
Cytopenias and congenital anaemias FCGR3B Helen Brittain reviewed FCGR3B
Cytopenias and congenital anaemias SLC34A1 Helen Brittain reviewed SLC34A1
Cytopenias and congenital anaemias JAK2 Helen Brittain reviewed JAK2
Cytopenias and congenital anaemias ACSL6 Helen Brittain reviewed ACSL6
Cytopenias and congenital anaemias TET2 Helen Brittain reviewed TET2
Cytopenias and congenital anaemias SF3B1 Helen Brittain reviewed SF3B1
Cytopenias and congenital anaemias IRF1 Helen Brittain reviewed IRF1
Cytopenias and congenital anaemias TP53 Helen Brittain reviewed TP53
Cytopenias and congenital anaemias SRSF2 Helen Brittain reviewed SRSF2
Cytopenias and congenital anaemias SH3BP1 Helen Brittain reviewed SH3BP1
Cytopenias and congenital anaemias SETBP1 Helen Brittain reviewed SETBP1
Cytopenias and congenital anaemias NRAS Helen Brittain reviewed NRAS
Cytopenias and congenital anaemias NF1 Helen Brittain reviewed NF1
Cytopenias and congenital anaemias KRAS Helen Brittain reviewed KRAS
Cytopenias and congenital anaemias JAK3 Helen Brittain reviewed JAK3
Cytopenias and congenital anaemias FLT3 Helen Brittain reviewed FLT3
Cytopenias and congenital anaemias EZH2 Helen Brittain reviewed EZH2
Cytopenias and congenital anaemias PTEN Helen Brittain reviewed PTEN
Cytopenias and congenital anaemias HRAS Helen Brittain reviewed HRAS
Cytopenias and congenital anaemias NPM1 Arianna Tucci reviewed NPM1
Cytopenias and congenital anaemias KMT2A Arianna Tucci reviewed KMT2A
Cytopenias and congenital anaemias KIT Arianna Tucci reviewed KIT
Cytopenias and congenital anaemias KDM6A Arianna Tucci reviewed KDM6A
Cytopenias and congenital anaemias IDH2 Arianna Tucci reviewed IDH2
Cytopenias and congenital anaemias IDH1 Arianna Tucci reviewed IDH1
Cytopenias and congenital anaemias GNAS Arianna Tucci reviewed GNAS
Cytopenias and congenital anaemias CUX1 Arianna Tucci reviewed CUX1
Cytopenias and congenital anaemias NOTCH1 Arianna Tucci reviewed NOTCH1
Cytopenias and congenital anaemias DHFR Arianna Tucci reviewed DHFR
Cytopenias and congenital anaemias MYH9 Arianna Tucci reviewed MYH9
Cytopenias and congenital anaemias TUBB1 Arianna Tucci reviewed TUBB1
Cytopenias and congenital anaemias RPS14 Arianna Tucci reviewed RPS14
Cytopenias and congenital anaemias TINF2 Arianna Tucci reviewed TINF2
Cytopenias and congenital anaemias WRAP53 Arianna Tucci reviewed WRAP53
Cytopenias and congenital anaemias CD36 Arianna Tucci reviewed CD36
Cytopenias and congenital anaemias PIGT Arianna Tucci reviewed PIGT
Cytopenias and congenital anaemias EPHX1 Arianna Tucci reviewed EPHX1
Cytopenias and congenital anaemias PIGA Arianna Tucci reviewed PIGA
Cytopenias and congenital anaemias TERC Arianna Tucci reviewed TERC
Cytopenias and congenital anaemias PTPN11 Sarah Leigh marked PTPN11 as ready
Cytopenias and congenital anaemias PTPN11 Sarah Leigh commented on PTPN11
Cytopenias and congenital anaemias NOTCH1 Sarah Leigh marked NOTCH1 as ready
Cytopenias and congenital anaemias NOTCH1 Sarah Leigh commented on NOTCH1
Cytopenias and congenital anaemias ZRSR2 Rebecca Foulger classified ZRSR2 as red
Cytopenias and congenital anaemias GLRX5 Sarah Leigh marked GLRX5 as ready
Cytopenias and congenital anaemias ZRSR2 Rebecca Foulger commented on ZRSR2
Cytopenias and congenital anaemias SMC1A Sarah Leigh marked SMC1A as ready
Cytopenias and congenital anaemias U2AF1 Rebecca Foulger commented on U2AF1
Cytopenias and congenital anaemias U2AF1 Rebecca Foulger classified U2AF1 as red
Cytopenias and congenital anaemias SMC1A Sarah Leigh commented on SMC1A
Cytopenias and congenital anaemias U2AF1 Rebecca Foulger commented on U2AF1
Cytopenias and congenital anaemias U2AF1 Rebecca Foulger commented on U2AF1
Cytopenias and congenital anaemias RAD21 Sarah Leigh marked RAD21 as ready
Cytopenias and congenital anaemias RAD21 Sarah Leigh commented on RAD21
Cytopenias and congenital anaemias STAG2 Rebecca Foulger commented on STAG2
Cytopenias and congenital anaemias STAG2 Rebecca Foulger classified STAG2 as red
Cytopenias and congenital anaemias STAG2 Rebecca Foulger commented on STAG2
Cytopenias and congenital anaemias SMC3 Rebecca Foulger edited their review of SMC3
Cytopenias and congenital anaemias SMC3 Rebecca Foulger classified SMC3 as red
Cytopenias and congenital anaemias SMC3 Rebecca Foulger commented on SMC3
Cytopenias and congenital anaemias GFI1 Rebecca Foulger classified GFI1 as green
Cytopenias and congenital anaemias MPL Rebecca Foulger classified MPL as green
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger classified RUNX1 as red
Cytopenias and congenital anaemias WT1 Sarah Leigh marked WT1 as ready
Cytopenias and congenital anaemias WT1 Sarah Leigh commented on WT1
Corneal abnormalities Chris Campbell promoted panel to version 1
Cytopenias and congenital anaemias PHF6 Sarah Leigh marked PHF6 as ready
Cytopenias and congenital anaemias PHF6 Sarah Leigh commented on PHF6
Corneal abnormalities GLS Chris Campbell marked GLS as ready
Corneal abnormalities APOA1 Chris Campbell classified APOA1 as red
Corneal abnormalities APOA1 Chris Campbell reviewed APOA1
Cytopenias and congenital anaemias SRP72 Rebecca Foulger classified SRP72 as red
Cytopenias and congenital anaemias SRP72 Rebecca Foulger commented on SRP72
Cytopenias and congenital anaemias NHP2 Sarah Leigh marked NHP2 as ready
Cytopenias and congenital anaemias NHP2 Sarah Leigh classified NHP2 as amber
Cytopenias and congenital anaemias NHP2 Sarah Leigh commented on NHP2
Cytopenias and congenital anaemias NOP10 Sarah Leigh classified NOP10 as red
Cytopenias and congenital anaemias NOP10 Sarah Leigh commented on NOP10
Cytopenias and congenital anaemias PDGFRA Sarah Leigh marked PDGFRA as ready
Cytopenias and congenital anaemias GFI1 Rebecca Foulger classified GFI1 as amber
Cytopenias and congenital anaemias MPL Rebecca Foulger classified MPL as amber
Cytopenias and congenital anaemias PDGFRA Sarah Leigh commented on PDGFRA
Cytopenias and congenital anaemias NT5C3A Sarah Leigh marked NT5C3A as ready
Cytopenias and congenital anaemias NT5C3A Sarah Leigh commented on NT5C3A
Cytopenias and congenital anaemias PFKM Sarah Leigh marked PFKM as ready
Cytopenias and congenital anaemias PFKM Sarah Leigh commented on PFKM
Cytopenias and congenital anaemias MTR Rebecca Foulger marked MTR as ready
Cytopenias and congenital anaemias USB1 Sarah Leigh classified USB1 as red
Cytopenias and congenital anaemias MTRR Rebecca Foulger marked MTRR as ready
Cytopenias and congenital anaemias DKC1 Sarah Leigh marked DKC1 as ready
Cytopenias and congenital anaemias ADAMTS13 Rebecca Foulger marked ADAMTS13 as ready
Cytopenias and congenital anaemias DKC1 Sarah Leigh commented on DKC1
Cytopenias and congenital anaemias FANCB Rebecca Foulger marked FANCB as ready
Cytopenias and congenital anaemias FANCB Rebecca Foulger classified FANCB as green
Cytopenias and congenital anaemias FANCB Rebecca Foulger commented on FANCB
Cytopenias and congenital anaemias USB1 Sarah Leigh classified USB1 as green
Cytopenias and congenital anaemias USB1 Sarah Leigh commented on USB1
Cytopenias and congenital anaemias USB1 Sarah Leigh marked USB1 as ready
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias RPL19 Sarah Leigh marked RPL19 as ready
Cytopenias and congenital anaemias RPL19 Sarah Leigh commented on RPL19
Cytopenias and congenital anaemias AK1 Rebecca Foulger marked AK1 as ready
Cytopenias and congenital anaemias AK1 Rebecca Foulger classified AK1 as green
Cytopenias and congenital anaemias AK1 Rebecca Foulger commented on AK1
Cytopenias and congenital anaemias GSS Rebecca Foulger marked GSS as ready
Cytopenias and congenital anaemias GSS Rebecca Foulger classified GSS as green
Cytopenias and congenital anaemias GSS Rebecca Foulger commented on GSS
Cytopenias and congenital anaemias CD59 Rebecca Foulger marked CD59 as ready
Cytopenias and congenital anaemias CD59 Rebecca Foulger classified CD59 as green
Cytopenias and congenital anaemias CD59 Rebecca Foulger commented on CD59
Cytopenias and congenital anaemias SRP72 Rebecca Foulger commented on SRP72
Cytopenias and congenital anaemias GFI1 Rebecca Foulger commented on GFI1
Cytopenias and congenital anaemias GFI1 Rebecca Foulger edited their review of GFI1
Cytopenias and congenital anaemias GFI1 Rebecca Foulger classified GFI1 as green
Cytopenias and congenital anaemias GFI1 Rebecca Foulger commented on GFI1
Cytopenias and congenital anaemias HAX1 Rebecca Foulger marked HAX1 as ready
Cytopenias and congenital anaemias HAX1 Rebecca Foulger classified HAX1 as green
Cytopenias and congenital anaemias HAX1 Rebecca Foulger commented on HAX1
Cytopenias and congenital anaemias G6PC3 Rebecca Foulger marked G6PC3 as ready
Cytopenias and congenital anaemias G6PC3 Rebecca Foulger classified G6PC3 as green
Cytopenias and congenital anaemias G6PC3 Rebecca Foulger commented on G6PC3
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias RPS24 Rebecca Foulger commented on RPS24
Cytopenias and congenital anaemias RPS19 Rebecca Foulger marked RPS19 as ready
Cytopenias and congenital anaemias RPS19 Rebecca Foulger classified RPS19 as green
Cytopenias and congenital anaemias RPS19 Rebecca Foulger commented on RPS19
Cytopenias and congenital anaemias RPS26 Rebecca Foulger marked RPS26 as ready
Cytopenias and congenital anaemias RPS26 Rebecca Foulger classified RPS26 as green
Cytopenias and congenital anaemias RPS26 Rebecca Foulger commented on RPS26
Cytopenias and congenital anaemias RPS24 Rebecca Foulger marked RPS24 as ready
Cytopenias and congenital anaemias RPS24 Rebecca Foulger classified RPS24 as green
Cytopenias and congenital anaemias RPS24 Rebecca Foulger commented on RPS24
Cytopenias and congenital anaemias RPL35A Rebecca Foulger marked RPL35A as ready
Cytopenias and congenital anaemias RPL35A Rebecca Foulger classified RPL35A as green
Cytopenias and congenital anaemias RPL35A Rebecca Foulger commented on RPL35A
Cytopenias and congenital anaemias RPL5 Rebecca Foulger marked RPL5 as ready
Cytopenias and congenital anaemias RPL5 Rebecca Foulger classified RPL5 as green
Cytopenias and congenital anaemias RPL5 Rebecca Foulger commented on RPL5
Cytopenias and congenital anaemias RPL11 Rebecca Foulger marked RPL11 as ready
Cytopenias and congenital anaemias RPL11 Rebecca Foulger classified RPL11 as green
Cytopenias and congenital anaemias RPL11 Rebecca Foulger commented on RPL11
Cytopenias and congenital anaemias RPS7 Rebecca Foulger marked RPS7 as ready
Cytopenias and congenital anaemias RPS7 Rebecca Foulger classified RPS7 as green
Cytopenias and congenital anaemias RPS7 Rebecca Foulger commented on RPS7
Cytopenias and congenital anaemias RPL9 Sarah Leigh marked RPL9 as ready
Cytopenias and congenital anaemias RPL9 Sarah Leigh commented on RPL9
Cytopenias and congenital anaemias RPS10 Rebecca Foulger marked RPS10 as ready
Cytopenias and congenital anaemias RPS10 Rebecca Foulger classified RPS10 as green
Cytopenias and congenital anaemias RPS10 Rebecca Foulger commented on RPS10
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias GATA2 Rebecca Foulger marked GATA2 as ready
Cytopenias and congenital anaemias GATA2 Rebecca Foulger commented on GATA2
Cytopenias and congenital anaemias GATA2 Rebecca Foulger commented on GATA2
Cytopenias and congenital anaemias MTR Rebecca Foulger classified MTR as green
Cytopenias and congenital anaemias MTR Rebecca Foulger commented on MTR
Cytopenias and congenital anaemias MTRR Rebecca Foulger classified MTRR as green
Cytopenias and congenital anaemias MTRR Rebecca Foulger commented on MTRR
Cytopenias and congenital anaemias MPL Rebecca Foulger commented on MPL
Cytopenias and congenital anaemias MPL Rebecca Foulger commented on MPL
Cytopenias and congenital anaemias ADAMTS13 Rebecca Foulger classified ADAMTS13 as green
Cytopenias and congenital anaemias ADAMTS13 Rebecca Foulger commented on ADAMTS13
Cytopenias and congenital anaemias RPS27 Sarah Leigh marked RPS27 as ready
Cytopenias and congenital anaemias RPS27 Sarah Leigh commented on RPS27
Congenital myopathy MAP3K20 Helen Brittain marked MAP3K20* as ready
Congenital myopathy MAP3K20 Helen Brittain classified MAP3K20* as green
Congenital myopathy MAP3K20 Helen Brittain commented on MAP3K20*
Congenital myopathy ZAK Helen Brittain marked ZAK* as ready
Congenital myopathy ZAK Helen Brittain classified ZAK* as green
Congenital myopathy ZAK Helen Brittain commented on ZAK*
Congenital myopathy VPS33B Helen Brittain marked VPS33B as ready
Congenital myopathy VPS33B Helen Brittain classified VPS33B as amber
Congenital myopathy VPS33B Helen Brittain commented on VPS33B
Congenital myopathy VMA21 Helen Brittain marked VMA21 as ready
Congenital myopathy VMA21 Helen Brittain classified VMA21 as green
Congenital myopathy VMA21 Helen Brittain commented on VMA21
Congenital myopathy LAMP2 Helen Brittain marked LAMP2 as ready
Congenital myopathy LAMP2 Helen Brittain classified LAMP2 as amber
Congenital myopathy LAMP2 Helen Brittain commented on LAMP2
Congenital myopathy EPG5 Helen Brittain marked EPG5 as ready
Congenital myopathy EPG5 Helen Brittain classified EPG5 as green
Congenital myopathy EPG5 Helen Brittain commented on EPG5
Congenital myopathy CASQ1 Helen Brittain marked CASQ1 as ready
Congenital myopathy CASQ1 Helen Brittain classified CASQ1 as amber
Congenital myopathy CASQ1 Helen Brittain commented on CASQ1
Congenital myopathy SCN4A Helen Brittain marked SCN4A as ready
Congenital myopathy SCN4A Helen Brittain classified SCN4A as green
Congenital myopathy SCN4A Helen Brittain commented on SCN4A
Congenital myopathy PIEZO2 Helen Brittain marked PIEZO2 as ready
Cytopenias and congenital anaemias RPL27 Sarah Leigh marked RPL27 as ready
Congenital myopathy PIEZO2 Helen Brittain classified PIEZO2 as red
Congenital myopathy PIEZO2 Helen Brittain commented on PIEZO2
Congenital myopathy NEFL Helen Brittain marked NEFL as ready
Cytopenias and congenital anaemias RPL27 Sarah Leigh commented on RPL27
Congenital myopathy NEFL Helen Brittain commented on NEFL
Congenital myopathy NEFL Helen Brittain classified NEFL as amber
Congenital myopathy MYPN Helen Brittain marked MYPN as ready
Congenital myopathy MYPN Helen Brittain commented on MYPN
Congenital myopathy MYPN Helen Brittain classified MYPN as amber
Congenital myopathy MYO18B Helen Brittain marked MYO18B as ready
Congenital myopathy MYO18B Helen Brittain commented on MYO18B
Congenital myopathy MYO18B Helen Brittain classified MYO18B as green
Congenital myopathy MYL1 Helen Brittain marked MYL1 as ready
Congenital myopathy MYL1 Helen Brittain classified MYL1 as amber
Congenital myopathy MYL1 Helen Brittain commented on MYL1
Cytopenias and congenital anaemias RPS29 Sarah Leigh classified RPS29 as amber
Cytopenias and congenital anaemias RPS29 Sarah Leigh classified RPS29 as green
Cytopenias and congenital anaemias IKZF1 Ellen McDonagh classified IKZF1 as amber
Cytopenias and congenital anaemias IKZF1 Ellen McDonagh commented on IKZF1
Cytopenias and congenital anaemias IKZF1 Ellen McDonagh classified IKZF1 as amber
Cytopenias and congenital anaemias FBXW7 Ellen McDonagh marked FBXW7 as ready
Cytopenias and congenital anaemias FBXW7 Ellen McDonagh classified FBXW7 as red
Cytopenias and congenital anaemias FBXW7 Ellen McDonagh commented on FBXW7
Congenital myopathy MYBPC3 Helen Brittain marked MYBPC3 as ready
Congenital myopathy MYBPC3 Helen Brittain classified MYBPC3 as amber
Congenital myopathy MYBPC3 Helen Brittain commented on MYBPC3
Congenital myopathy MTMR14 Helen Brittain marked MTMR14 as ready
Congenital myopathy MTMR14 Helen Brittain commented on MTMR14
Congenital myopathy MTMR14 Helen Brittain classified MTMR14 as amber
Cytopenias and congenital anaemias TAZ Sarah Leigh commented on TAZ
Congenital myopathy LMNA Helen Brittain marked LMNA as ready
Congenital myopathy LMNA Helen Brittain classified LMNA as green
Congenital myopathy LMNA Helen Brittain commented on LMNA
Congenital myopathy KY Helen Brittain marked KY as ready
Congenital myopathy KY Helen Brittain classified KY as amber
Congenital myopathy KY Helen Brittain commented on KY
Congenital myopathy HACD1 Helen Brittain marked HACD1 as ready
Congenital myopathy HACD1 Helen Brittain classified HACD1 as amber
Congenital myopathy HACD1 Helen Brittain commented on HACD1
Congenital myopathy COL12A1 Helen Brittain marked COL12A1 as ready
Congenital myopathy COL12A1 Helen Brittain classified COL12A1 as green
Congenital myopathy COL12A1 Helen Brittain commented on COL12A1
Congenital myopathy CACNA1S Helen Brittain marked CACNA1S as ready
Congenital myopathy CACNA1S Helen Brittain commented on CACNA1S
Congenital myopathy CACNA1S Helen Brittain classified CACNA1S as green
Congenital myopathy STAC3 Helen Brittain marked STAC3 as ready
Congenital myopathy STAC3 Helen Brittain classified STAC3 as green
Congenital myopathy TNNT3 Helen Brittain marked TNNT3 as ready
Congenital myopathy TNNI2 Helen Brittain marked TNNI2 as ready
Congenital myopathy MYBPC1 Helen Brittain marked MYBPC1 as ready
Congenital myopathy ECEL1 Helen Brittain marked ECEL1 as ready
Congenital myopathy CNTN1 Helen Brittain classified CNTN1 as amber
Congenital myopathy CCDC78 Helen Brittain classified CCDC78 as amber
Congenital myopathy SLC25A4 Helen Brittain marked SLC25A4 as ready
Congenital myopathy BAG3 Helen Brittain marked BAG3 as ready
Congenital myopathy BAG3 Helen Brittain classified BAG3 as red
Paediatric motor neuronopathies Arianna Tucci promoted panel to version 1
Paediatric motor neuronopathies TRPV4 Arianna Tucci marked TRPV4 as ready
Paediatric motor neuronopathies TRPV4 Arianna Tucci classified TRPV4 as green
Paediatric motor neuronopathies TRPV4 Arianna Tucci marked TRPV4 as ready
Cytopenias and congenital anaemias GLRX5 Sarah Leigh classified GLRX5 as green
Paediatric motor neuronopathies SNRPN Arianna Tucci marked SNRPN as ready
Paediatric motor neuronopathies SNRPN Arianna Tucci commented on SNRPN
Cytopenias and congenital anaemias GLRX5 Sarah Leigh commented on GLRX5
Familial prostate cancer Ellen McDonagh promoted panel to version 1
Familial prostate cancer BRCA1 Ellen McDonagh commented on BRCA1
Paediatric motor neuronopathies SNRPN Arianna Tucci classified SNRPN as green
Paediatric motor neuronopathies REEP1 Arianna Tucci marked REEP1 as ready
Paediatric motor neuronopathies REEP1 Arianna Tucci commented on REEP1
Paediatric motor neuronopathies REEP1 Arianna Tucci classified REEP1 as amber
Paediatric motor neuronopathies ATP7A Arianna Tucci marked ATP7A as ready
Paediatric motor neuronopathies ATP7A Arianna Tucci classified ATP7A as amber
Paediatric motor neuronopathies AARS Arianna Tucci marked AARS as ready
Paediatric motor neuronopathies VAPB Arianna Tucci marked VAPB as ready
Paediatric motor neuronopathies SETX Arianna Tucci marked SETX as ready
Paediatric motor neuronopathies HSPB8 Arianna Tucci marked HSPB8 as ready
Paediatric motor neuronopathies HSPB1 Arianna Tucci marked HSPB1 as ready
Paediatric motor neuronopathies EXOSC8 Arianna Tucci marked EXOSC8 as ready
Paediatric motor neuronopathies ALS2 Arianna Tucci marked ALS2 as ready
Paediatric motor neuronopathies ALS2 Arianna Tucci classified ALS2 as amber
Paediatric motor neuronopathies ALS2 Arianna Tucci marked ALS2 as ready
Cytopenias and congenital anaemias HBD Ellen McDonagh classified HBD as amber
Cytopenias and congenital anaemias COX4I2 Ellen McDonagh classified COX4I2 as amber
Cytopenias and congenital anaemias BRCA1 Ellen McDonagh classified BRCA1 as amber
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh classified PLA2G6 as green
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh commented on PLA2G6
Structural basal ganglia disorders PLA2G6 Sarah Leigh marked PLA2G6 as ready
Structural basal ganglia disorders PLA2G6 Sarah Leigh commented on PLA2G6
Structural basal ganglia disorders PLA2G6 Sarah Leigh classified PLA2G6 as green
Structural basal ganglia disorders PDX1 Sarah Leigh marked PDX1 as ready
Structural basal ganglia disorders PDX1 Sarah Leigh commented on PDX1
Structural basal ganglia disorders PDX1 Sarah Leigh classified PDX1 as red
Structural basal ganglia disorders PCCB Sarah Leigh marked PCCB as ready
Structural basal ganglia disorders PCCB Sarah Leigh commented on PCCB
Structural basal ganglia disorders PCCB Sarah Leigh classified PCCB as green
Structural basal ganglia disorders PCCA Sarah Leigh marked PCCA as ready
Structural basal ganglia disorders PCCA Sarah Leigh commented on PCCA
Structural basal ganglia disorders PCCA Sarah Leigh classified PCCA as green
Structural basal ganglia disorders NUP62 Sarah Leigh marked NUP62 as ready
Structural basal ganglia disorders NUP62 Sarah Leigh commented on NUP62
Structural basal ganglia disorders NUP62 Sarah Leigh classified NUP62 as red
Structural basal ganglia disorders NDUFAF6 Sarah Leigh commented on NDUFAF6
Structural basal ganglia disorders NDUFAF6 Sarah Leigh marked NDUFAF6 as ready
Structural basal ganglia disorders NDUFAF6 Sarah Leigh classified NDUFAF6 as green
Structural basal ganglia disorders NDUFA9 Sarah Leigh marked NDUFA9 as ready
Structural basal ganglia disorders NDUFA9 Sarah Leigh commented on NDUFA9
Structural basal ganglia disorders NDUFA9 Sarah Leigh classified NDUFA9 as red
Structural basal ganglia disorders NDUFA2 Sarah Leigh marked NDUFA2 as ready
Structural basal ganglia disorders NDUFA2 Sarah Leigh commented on NDUFA2
Structural basal ganglia disorders NDUFA2 Sarah Leigh classified NDUFA2 as red
Structural basal ganglia disorders NDUFA10 Sarah Leigh classified NDUFA10 as green
Structural basal ganglia disorders NDUFA10 Sarah Leigh marked NDUFA10 as ready
Structural basal ganglia disorders NDUFA10 Sarah Leigh commented on NDUFA10
Structural basal ganglia disorders MUT Sarah Leigh marked MUT as ready
Structural basal ganglia disorders MUT Sarah Leigh commented on MUT
Structural basal ganglia disorders MUT Sarah Leigh classified MUT as green
Structural basal ganglia disorders MECR Sarah Leigh commented on MECR
Structural basal ganglia disorders MECR Sarah Leigh marked MECR as ready
Structural basal ganglia disorders MECR Sarah Leigh classified MECR as green
Structural basal ganglia disorders GCDH Sarah Leigh classified GCDH as green
Structural basal ganglia disorders KMT2B Sarah Leigh marked KMT2B as ready
Structural basal ganglia disorders KMT2B Sarah Leigh classified KMT2B as green
Structural basal ganglia disorders KMT2B Sarah Leigh commented on KMT2B
Structural basal ganglia disorders IVD Sarah Leigh marked IVD as ready
Structural basal ganglia disorders IVD Sarah Leigh commented on IVD
Structural basal ganglia disorders IVD Sarah Leigh classified IVD as green
Structural basal ganglia disorders HTT Sarah Leigh marked HTT as ready
Structural basal ganglia disorders HTT Sarah Leigh commented on HTT
Structural basal ganglia disorders HTT Sarah Leigh classified HTT as red
Structural basal ganglia disorders HEXA Sarah Leigh marked HEXA as ready
Structural basal ganglia disorders HEXA Sarah Leigh commented on HEXA
Structural basal ganglia disorders HEXA Sarah Leigh classified HEXA as red
Structural basal ganglia disorders GFAP Sarah Leigh marked GFAP as ready
Structural basal ganglia disorders GFAP Sarah Leigh commented on GFAP
Structural basal ganglia disorders GFAP Sarah Leigh classified GFAP as amber
Structural basal ganglia disorders GCDH Sarah Leigh marked GCDH as ready
Structural basal ganglia disorders GCDH Sarah Leigh commented on GCDH
Undiagnosed metabolic disorders FA2H Sarah Leigh marked FA2H as ready
Undiagnosed metabolic disorders FA2H Sarah Leigh classified FA2H as green
Structural basal ganglia disorders FA2H Sarah Leigh marked FA2H as ready
Structural basal ganglia disorders FA2H Sarah Leigh commented on FA2H
Structural basal ganglia disorders FA2H Sarah Leigh classified FA2H as green
Structural basal ganglia disorders DCAF10 Sarah Leigh classified DCAF10 as red
Structural basal ganglia disorders DCAF10 Sarah Leigh commented on DCAF10
Undiagnosed metabolic disorders CP Sarah Leigh marked CP as ready
Undiagnosed metabolic disorders CP Sarah Leigh classified CP as green
Structural basal ganglia disorders CP Sarah Leigh marked CP as ready
Structural basal ganglia disorders CP Sarah Leigh commented on CP
Structural basal ganglia disorders CP Sarah Leigh classified CP as green
Structural basal ganglia disorders COASY Sarah Leigh classified COASY as green
Structural basal ganglia disorders COASY Sarah Leigh marked COASY as ready
Structural basal ganglia disorders COASY Sarah Leigh commented on COASY
Undiagnosed metabolic disorders ATP7B Sarah Leigh marked ATP7B as ready
Undiagnosed metabolic disorders ATP7B Sarah Leigh classified ATP7B as green
Structural basal ganglia disorders ATP7B Sarah Leigh marked ATP7B as ready
Structural basal ganglia disorders ATP7B Sarah Leigh commented on ATP7B
Structural basal ganglia disorders ATP7B Sarah Leigh classified ATP7B as green
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh marked ATP13A2 as ready
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh classified ATP13A2 as green
Structural basal ganglia disorders ATP13A2 Sarah Leigh marked ATP13A2 as ready
Structural basal ganglia disorders ATP13A2 Sarah Leigh commented on ATP13A2
Congenital myopathy ZAK Anna Sarkozy reviewed ZAK*
Structural basal ganglia disorders ATP13A2 Sarah Leigh classified ATP13A2 as green
Congenital myopathy MAP3K20 Anna Sarkozy reviewed MAP3K20*
Congenital myopathy NEFL Anna Sarkozy reviewed NEFL
Congenital myopathy MYPN Anna Sarkozy reviewed MYPN
Congenital myopathy LMNA Anna Sarkozy reviewed LMNA
Congenital myopathy KY Anna Sarkozy reviewed KY
Congenital myopathy COL12A1 Anna Sarkozy reviewed COL12A1
Congenital myopathy CASQ1 Anna Sarkozy reviewed CASQ1
Congenital myopathy VPS33B Anna Sarkozy reviewed VPS33B
Congenital myopathy LAMP2 Anna Sarkozy reviewed LAMP2
Congenital myopathy VMA21 Anna Sarkozy reviewed VMA21
Congenital myopathy EPG5 Anna Sarkozy reviewed EPG5
Congenital myopathy PIEZO2 Anna Sarkozy reviewed PIEZO2
Congenital myopathy MYL1 Anna Sarkozy reviewed MYL1
Congenital myopathy MYO18B Anna Sarkozy reviewed MYO18B
Congenital myopathy MTMR14 Anna Sarkozy reviewed MTMR14
Congenital myopathy HACD1 Anna Sarkozy reviewed HACD1
Congenital myopathy SCN4A Anna Sarkozy reviewed SCN4A
Congenital myopathy CACNA1S Anna Sarkozy reviewed CACNA1S
Congenital myopathy MYBPC3 Anna Sarkozy reviewed MYBPC3
Congenital myopathy YARS2 Anna Sarkozy reviewed YARS2
Congenital myopathy VCP Anna Sarkozy reviewed VCP
Congenital myopathy TNNT3 Anna Sarkozy reviewed TNNT3
Congenital myopathy TNNI2 Anna Sarkozy reviewed TNNI2
Congenital myopathy TIA1 Anna Sarkozy reviewed TIA1
Congenital myopathy STIM2 Anna Sarkozy reviewed STIM2
Congenital myopathy STAC3 Anna Sarkozy reviewed STAC3
Congenital myopathy SLC25A42 Anna Sarkozy reviewed SLC25A42
Congenital myopathy RBCK1 Anna Sarkozy reviewed RBCK1
Congenital myopathy PUS1 Anna Sarkozy reviewed PUS1
Congenital myopathy PNPLA2 Anna Sarkozy reviewed PNPLA2
Congenital myopathy MYOT Anna Sarkozy reviewed MYOT
Congenital myopathy MYH14 Anna Sarkozy reviewed MYH14
Congenital myopathy MYF6 Anna Sarkozy reviewed MYF6
Congenital myopathy MYBPC1 Anna Sarkozy reviewed MYBPC1
Congenital myopathy MT-TL1 Anna Sarkozy reviewed MT-TL1
Congenital myopathy MATR3 Anna Sarkozy reviewed MATR3
Congenital myopathy LDB3 Anna Sarkozy reviewed LDB3
Congenital myopathy ISCU Anna Sarkozy reviewed ISCU
Congenital myopathy HRAS Anna Sarkozy reviewed HRAS
Congenital myopathy HNRNPA1 Anna Sarkozy reviewed HNRNPA1
Congenital myopathy GNE Anna Sarkozy reviewed GNE
Congenital myopathy GFER Anna Sarkozy reviewed GFER
Congenital myopathy FLNC Anna Sarkozy reviewed FLNC
Congenital myopathy FAM111B Anna Sarkozy reviewed FAM111B
Congenital myopathy ECEL1 Anna Sarkozy reviewed ECEL1
Congenital myopathy DYSF Anna Sarkozy reviewed DYSF
Congenital myopathy DNAJB6 Anna Sarkozy reviewed DNAJB6
Congenital myopathy DMPK Anna Sarkozy reviewed DMPK
Congenital myopathy DES Anna Sarkozy reviewed DES
Congenital myopathy CRYAB Anna Sarkozy reviewed CRYAB
Congenital myopathy CPT2 Anna Sarkozy reviewed CPT2
Congenital myopathy COL9A3 Anna Sarkozy reviewed COL9A3
Congenital myopathy CNTN1 Anna Sarkozy reviewed CNTN1
Congenital myopathy CHCHD10 Anna Sarkozy reviewed CHCHD10
Congenital myopathy CCDC78 Anna Sarkozy reviewed CCDC78
Congenital myopathy CAV3 Anna Sarkozy reviewed CAV3
Congenital myopathy ATP2A1 Anna Sarkozy reviewed ATP2A1
Congenital myopathy TTN Anna Sarkozy reviewed TTN
Congenital myopathy TPM3 Anna Sarkozy reviewed TPM3
Congenital myopathy TPM2 Anna Sarkozy reviewed TPM2
Congenital myopathy TNNT1 Anna Sarkozy reviewed TNNT1
Congenital myopathy STIM1 Anna Sarkozy reviewed STIM1
Congenital myopathy SPEG Anna Sarkozy reviewed SPEG
Congenital myopathy SLC25A4 Anna Sarkozy reviewed SLC25A4
Congenital myopathy SEPN1 Anna Sarkozy reviewed SEPN1
Congenital myopathy RYR1 Anna Sarkozy reviewed RYR1
Congenital myopathy ORAI1 Anna Sarkozy reviewed ORAI1
Congenital myopathy NEB Anna Sarkozy reviewed NEB
Congenital myopathy MYH8 Anna Sarkozy reviewed MYH8
Congenital myopathy MYH7 Anna Sarkozy reviewed MYH7
Congenital myopathy MYH3 Anna Sarkozy reviewed MYH3
Congenital myopathy MYH2 Anna Sarkozy reviewed MYH2
Congenital myopathy MTM1 Anna Sarkozy reviewed MTM1
Congenital myopathy MICU1 Anna Sarkozy reviewed MICU1
Congenital myopathy MEGF10 Anna Sarkozy reviewed MEGF10
Congenital myopathy LMOD3 Anna Sarkozy reviewed LMOD3
Congenital myopathy KLHL41 Anna Sarkozy reviewed KLHL41
Congenital myopathy KLHL40 Anna Sarkozy reviewed KLHL40
Congenital myopathy KBTBD13 Anna Sarkozy reviewed KBTBD13
Congenital myopathy FKBP14 Anna Sarkozy reviewed FKBP14
Congenital myopathy DNM2 Anna Sarkozy reviewed DNM2
Congenital myopathy COL6A3 Anna Sarkozy reviewed COL6A3
Congenital myopathy COL6A2 Anna Sarkozy reviewed COL6A2
Congenital myopathy COL6A1 Anna Sarkozy reviewed COL6A1
Congenital myopathy CFL2 Anna Sarkozy reviewed CFL2
Congenital myopathy BIN1 Anna Sarkozy reviewed BIN1
Congenital myopathy BAG3 Anna Sarkozy reviewed BAG3
Congenital myopathy ACTA1 Anna Sarkozy reviewed ACTA1
Undiagnosed metabolic disorders ADAR Sarah Leigh marked ADAR as ready
Undiagnosed metabolic disorders ADAR Sarah Leigh classified ADAR as green
Structural basal ganglia disorders ADAR Sarah Leigh marked ADAR as ready
Structural basal ganglia disorders ADAR Sarah Leigh commented on ADAR
Structural basal ganglia disorders ADAR Sarah Leigh classified ADAR as green
Structural basal ganglia disorders XPR1 Sarah Leigh marked XPR1 as ready
Structural basal ganglia disorders XPR1 Sarah Leigh commented on XPR1
Structural basal ganglia disorders XPR1 Sarah Leigh classified XPR1 as green
Structural basal ganglia disorders RAB39B Sarah Leigh marked RAB39B as ready
Structural basal ganglia disorders RAB39B Sarah Leigh commented on RAB39B
Structural basal ganglia disorders RAB39B Sarah Leigh classified RAB39B as green
Structural basal ganglia disorders PDGFB Sarah Leigh marked PDGFB as ready
Structural basal ganglia disorders PDGFB Sarah Leigh commented on PDGFB
Structural basal ganglia disorders PDGFB Sarah Leigh classified PDGFB as green
Structural basal ganglia disorders ISG15 Sarah Leigh marked ISG15 as ready
Structural basal ganglia disorders ISG15 Sarah Leigh commented on ISG15
Structural basal ganglia disorders ISG15 Sarah Leigh classified ISG15 as green
Structural basal ganglia disorders IFIH1 Sarah Leigh commented on IFIH1
Structural basal ganglia disorders IFIH1 Sarah Leigh classified IFIH1 as green
Structural basal ganglia disorders IFIH1 Sarah Leigh commented on IFIH1
Structural basal ganglia disorders PDE10A Sarah Leigh marked PDE10A as ready
Structural basal ganglia disorders PDE10A Sarah Leigh classified PDE10A as green
Structural basal ganglia disorders PDE10A Sarah Leigh commented on PDE10A
Infantile enterocolitis & monogenic inflammatory bowel disease STAT1 Sarah Leigh commented on STAT1
Severe microcephaly PRUNE Rebecca Foulger commented on PRUNE
Hyperthyroidism TRU-TCA1-1 Louise Daugherty edited their review of TRU-TCA1-1
Severe microcephaly PDHA1 emma baple edited their review of PDHA1
Severe microcephaly PDHA1 emma baple marked PDHA1 as ready
Severe microcephaly PDHA1 emma baple classified PDHA1 as green
Severe microcephaly PDHA1 emma baple added PDHA1 to panel
Severe microcephaly PDHA1 emma baple reviewed PDHA1
Severe microcephaly PRUNE emma baple marked PRUNE as ready
Severe microcephaly PRUNE emma baple classified PRUNE as green
Severe microcephaly PRUNE emma baple added PRUNE to panel
Severe microcephaly PRUNE emma baple reviewed PRUNE
Hyperthyroidism TRU-TCA1-1 Louise Daugherty commented on TRU-TCA1-1
Hyperthyroidism TRU-TCA1-1 Louise Daugherty added TRU-TCA1-1 to panel
Hyperthyroidism TRU-TCA1-1 Louise Daugherty reviewed TRU-TCA1-1
Cytopenias and congenital anaemias ALDOA Louise Daugherty marked ALDOA as ready
Cytopenias and congenital anaemias ALDOA Louise Daugherty classified ALDOA as green
Cytopenias and congenital anaemias ALDOA Louise Daugherty classified ALDOA as amber
Cytopenias and congenital anaemias ALDOA Louise Daugherty commented on ALDOA
Cytopenias and congenital anaemias SPTA1 Louise Daugherty marked SPTA1 as ready
Cytopenias and congenital anaemias SPTA1 Louise Daugherty classified SPTA1 as green
Cytopenias and congenital anaemias SPTA1 Louise Daugherty commented on SPTA1
Cytopenias and congenital anaemias SLC2A1 Louise Daugherty marked SLC2A1 as ready
Cytopenias and congenital anaemias SLC2A1 Louise Daugherty classified SLC2A1 as green
Cytopenias and congenital anaemias SLC2A1 Louise Daugherty commented on SLC2A1
Cytopenias and congenital anaemias RHAG Louise Daugherty marked RHAG as ready
Cytopenias and congenital anaemias RHAG Louise Daugherty classified RHAG as green
Cytopenias and congenital anaemias RHAG Louise Daugherty commented on RHAG
Cytopenias and congenital anaemias CEBPA Ellen McDonagh classified CEBPA as amber
Cytopenias and congenital anaemias PRKG1 Louise Daugherty marked PRKG1 as ready
Cytopenias and congenital anaemias PRKG1 Louise Daugherty classified PRKG1 as red
Cytopenias and congenital anaemias PRKG1 Louise Daugherty commented on PRKG1
Cytopenias and congenital anaemias PKLR Louise Daugherty marked PKLR as ready
Cytopenias and congenital anaemias PKLR Louise Daugherty classified PKLR as green
Cytopenias and congenital anaemias PKLR Louise Daugherty commented on PKLR
Cytopenias and congenital anaemias PIEZO1 Louise Daugherty marked PIEZO1 as ready
Cytopenias and congenital anaemias PIEZO1 Louise Daugherty classified PIEZO1 as green
Cytopenias and congenital anaemias PIEZO1 Louise Daugherty commented on PIEZO1
Cytopenias and congenital anaemias LPIN2 Louise Daugherty marked LPIN2 as ready
Cytopenias and congenital anaemias CDKN2A Ellen McDonagh marked CDKN2A as ready
Intellectual disability ZNF335 Rebecca Foulger classified ZNF335 as red
Intellectual disability ZNF335 Rebecca Foulger commented on ZNF335
Intellectual disability ZNF335 Rebecca Foulger commented on ZNF335
Intellectual disability ZNF335 Rebecca Foulger added ZNF335 to panel
Intellectual disability ZNF335 Rebecca Foulger reviewed ZNF335
Cytopenias and congenital anaemias CDKN2A Ellen McDonagh classified CDKN2A as red
Cytopenias and congenital anaemias CDKN2A Ellen McDonagh commented on CDKN2A
Intellectual disability DPP6 Rebecca Foulger classified DPP6 as green
Cytopenias and congenital anaemias LPIN2 Louise Daugherty classified LPIN2 as green
Intellectual disability DPP6 Rebecca Foulger commented on DPP6
Intellectual disability DPP6 Rebecca Foulger commented on DPP6
Intellectual disability DPP6 Rebecca Foulger added DPP6 to panel
Intellectual disability DPP6 Rebecca Foulger reviewed DPP6
Cytopenias and congenital anaemias LPIN2 Louise Daugherty commented on LPIN2
Corneal abnormalities AGBL1 Chris Campbell commented on AGBL1
Cytopenias and congenital anaemias CBLC Ellen McDonagh marked CBLC as ready
Cytopenias and congenital anaemias CBLC Ellen McDonagh classified CBLC as red
Cytopenias and congenital anaemias CBLC Ellen McDonagh commented on CBLC
Cytopenias and congenital anaemias CBLB Ellen McDonagh marked CBLB as ready
Cytopenias and congenital anaemias CBLB Ellen McDonagh classified CBLB as red
Cytopenias and congenital anaemias CBLB Ellen McDonagh commented on CBLB
Cytopenias and congenital anaemias KIF23 Louise Daugherty marked KIF23 as ready
Cytopenias and congenital anaemias KIF23 Louise Daugherty classified KIF23 as green
Corneal abnormalities GLS Ellen McDonagh classified GLS as red
Corneal abnormalities GLS Ellen McDonagh edited their review of GLS
Corneal abnormalities GLS Ellen McDonagh commented on GLS
Corneal abnormalities GLS Ellen McDonagh commented on GLS
Corneal abnormalities AGBL1 Ellen McDonagh edited their review of AGBL1
Corneal abnormalities GSN Chris Campbell classified GSN as green
Corneal abnormalities GSN Chris Campbell added GSN to panel
Corneal abnormalities GSN Chris Campbell reviewed GSN
Corneal abnormalities LAMB2 Chris Campbell commented on LAMB2
Corneal abnormalities LAMB2 Chris Campbell classified LAMB2 as red
Corneal abnormalities ABCA3 Chris Campbell classified ABCA3 as red
Corneal abnormalities ABCA3 Chris Campbell commented on ABCA3
Corneal abnormalities ABCA3 Chris Campbell commented on ABCA3
Corneal abnormalities GJA8 Chris Campbell classified GJA8 as red
Corneal abnormalities MAF Chris Campbell commented on MAF
Corneal abnormalities MAF Chris Campbell edited their review of MAF
Corneal abnormalities GJA8 Chris Campbell edited their review of GJA8
Corneal abnormalities CYP4V2 Chris Campbell commented on CYP4V2
Corneal abnormalities PAX6 Chris Campbell classified PAX6 as red
Corneal abnormalities PAX6 Chris Campbell commented on PAX6
Corneal abnormalities PAX6 Chris Campbell edited their review of PAX6
Corneal abnormalities BEST1 Chris Campbell edited their review of BEST1
Corneal abnormalities BEST1 Chris Campbell marked BEST1 as ready
Corneal abnormalities BEST1 Chris Campbell commented on BEST1
Corneal abnormalities MIR184 Chris Campbell marked MIR184 as ready
Corneal abnormalities ABCA3 Chris Campbell marked ABCA3 as ready
Corneal abnormalities ALDH18A1 Chris Campbell marked ALDH18A1 as ready
Corneal abnormalities PAX6 Chris Campbell marked PAX6 as ready
Corneal abnormalities GJA8 Chris Campbell marked GJA8 as ready
Corneal abnormalities MAF Chris Campbell marked MAF as ready
Corneal abnormalities MAF Chris Campbell marked MAF as ready
Corneal abnormalities MAF Chris Campbell commented on MAF
Corneal abnormalities MAF Chris Campbell classified MAF as green
Corneal abnormalities GJA8 Chris Campbell classified GJA8 as green
Corneal abnormalities GJA8 Chris Campbell commented on GJA8
Corneal abnormalities ABCA3 Chris Campbell classified ABCA3 as green
Cytopenias and congenital anaemias RAD51C Helen Brittain marked RAD51C as ready
Cytopenias and congenital anaemias ATRX Helen Brittain marked ATRX as ready
Cytopenias and congenital anaemias ATRX Helen Brittain reviewed ATRX
Corneal abnormalities PAX6 Chris Campbell classified PAX6 as green
Corneal abnormalities PAX6 Chris Campbell commented on PAX6
Corneal abnormalities OVOL2 Chris Campbell classified OVOL2 as green
Paediatric motor neuronopathies BSCL2 Pinki Munot reviewed BSCL2
Paediatric motor neuronopathies REEP1 Pinki Munot reviewed REEP1
Paediatric motor neuronopathies SIGMAR1 Pinki Munot reviewed SIGMAR1
Paediatric motor neuronopathies DMPK Pinki Munot reviewed DMPK
Paediatric motor neuronopathies SNRPN Pinki Munot reviewed SNRPN
Paediatric motor neuronopathies UBQLN1 Pinki Munot reviewed UBQLN1
Paediatric motor neuronopathies AARS Pinki Munot reviewed AARS
Paediatric motor neuronopathies VAPB Pinki Munot reviewed VAPB
Paediatric motor neuronopathies SETX Pinki Munot reviewed SETX
Paediatric motor neuronopathies ATP7A Pinki Munot reviewed ATP7A
Paediatric motor neuronopathies SYT2 Pinki Munot reviewed SYT2
Paediatric motor neuronopathies SLC52A1 Pinki Munot reviewed SLC52A1
Paediatric motor neuronopathies TRIP4 Pinki Munot reviewed TRIP4
Paediatric motor neuronopathies ALS2 Pinki Munot reviewed ALS2
Paediatric motor neuronopathies UBA1 Pinki Munot reviewed UBA1
Paediatric motor neuronopathies VRK1 Pinki Munot reviewed VRK1
Paediatric motor neuronopathies SLC5A7 Pinki Munot reviewed SLC5A7
Paediatric motor neuronopathies EXOSC8 Pinki Munot reviewed EXOSC8
Corneal abnormalities LAMB2 Chris Campbell marked LAMB2 as ready
Corneal abnormalities LAMB2 Chris Campbell classified LAMB2 as green
Corneal abnormalities LAMB2 Chris Campbell reviewed LAMB2
Intellectual disability DIAPH1 Rebecca Foulger commented on DIAPH1
Intellectual disability DIAPH1 Rebecca Foulger commented on DIAPH1
Intellectual disability DIAPH1 Rebecca Foulger classified DIAPH1 as green
Intellectual disability DIAPH1 Rebecca Foulger added DIAPH1 to panel
Intellectual disability DIAPH1 Rebecca Foulger reviewed DIAPH1
Paediatric motor neuronopathies SPG11 Pinki Munot reviewed SPG11
Paediatric motor neuronopathies SMN1 Pinki Munot reviewed SMN1
Structural basal ganglia disorders PANK2 Sarah Leigh classified PANK2 as green
Structural basal ganglia disorders HIBCH Sarah Leigh classified HIBCH as green
Paediatric motor neuronopathies TRPV4 Pinki Munot reviewed TRPV4
Structural basal ganglia disorders SURF1 Sarah Leigh classified SURF1 as green
Structural basal ganglia disorders SUCLG1 Sarah Leigh classified SUCLG1 as green