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Severe early-onset obesity WDPCP Ayesha Ahmed classified WDPCP as amber
Severe early-onset obesity WDPCP Ayesha Ahmed commented on WDPCP
Severe early-onset obesity VPS13B Ayesha Ahmed marked VPS13B as ready
Severe early-onset obesity VPS13B Ayesha Ahmed classified VPS13B as green
Severe early-onset obesity VPS13B Ayesha Ahmed commented on VPS13B
Pneumothorax - familial FLCN Ellen McDonagh classified FLCN as green
Pneumothorax - familial EFEMP2 Ellen McDonagh commented on EFEMP2
Pneumothorax - familial EFEMP2 Stefan Marciniak commented on EFEMP2
Pneumothorax - familial SERPINA1 Stefan Marciniak reviewed SERPINA1
Pneumothorax - familial ATP7A Stefan Marciniak reviewed ATP7A
Pneumothorax - familial ELN Stefan Marciniak reviewed ELN
Pneumothorax - familial EFEMP2 Stefan Marciniak reviewed EFEMP2
Pneumothorax - familial ALDH18A1 Stefan Marciniak reviewed ALDH18A1
Pneumothorax - familial PYCR1 Stefan Marciniak reviewed PYCR1
Pneumothorax - familial ATP6V0A2 Stefan Marciniak reviewed ATP6V0A2
Pneumothorax - familial FBLN4 Stefan Marciniak reviewed FBLN4*
Pneumothorax - familial FBLN5 Stefan Marciniak reviewed FBLN5
Pneumothorax - familial LTBP4 Stefan Marciniak reviewed LTBP4
Pneumothorax - familial COL3A1 Stefan Marciniak reviewed COL3A1
Pneumothorax - familial MTHFR Stefan Marciniak reviewed MTHFR
Pneumothorax - familial TSC2 Stefan Marciniak reviewed TSC2
Pneumothorax - familial TSC1 Stefan Marciniak reviewed TSC1
Pneumothorax - familial FBN1 Stefan Marciniak reviewed FBN1
Pneumothorax - familial TGFB3 Stefan Marciniak reviewed TGFB3
Pneumothorax - familial TGFB2 Stefan Marciniak reviewed TGFB2
Pneumothorax - familial SMAD3 Stefan Marciniak reviewed SMAD3
Pneumothorax - familial TGFBR2 Stefan Marciniak reviewed TGFBR2
Pneumothorax - familial TGFBR1 Stefan Marciniak reviewed TGFBR1
Differences in sex development CYP11A1 Sarah Leigh marked CYP11A1 as ready
Differences in sex development CYP11A1 Sarah Leigh commented on CYP11A1
Hyperammonaemia MLYCD Sarah Leigh marked MLYCD as ready
Hyperammonaemia MLYCD Sarah Leigh commented on MLYCD
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh marked SLC24A5 as ready
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh classified SLC24A5 as green
Ocular and oculo-cutaneous albinism MITF Ellen McDonagh classified MITF as amber
Ocular and oculo-cutaneous albinism MITF Ellen McDonagh commented on MITF
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh marked LYST as ready
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as green
Optic neuropathy LYST Ellen McDonagh classified LYST as red
Optic neuropathy LYST Ellen McDonagh added LYST to panel
Optic neuropathy LYST Ellen McDonagh reviewed LYST
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as amber
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh classified C10orf11 as amber
Infantile nystagmus MT-CYB Ellen McDonagh added MT-CYB to panel
Infantile nystagmus MT-CYB Ellen McDonagh reviewed MT-CYB
Infantile nystagmus MT-CO3 Ellen McDonagh added MT-CO3 to panel
Infantile nystagmus MT-CO3 Ellen McDonagh reviewed MT-CO3
Infantile nystagmus MT-CO1 Ellen McDonagh added MT-CO1 to panel
Infantile nystagmus MT-CO1 Ellen McDonagh reviewed MT-CO1
Infantile nystagmus MT-ND6 Ellen McDonagh added MT-ND6 to panel
Infantile nystagmus MT-ND6 Ellen McDonagh reviewed MT-ND6
Infantile nystagmus MT-ATP6 Ellen McDonagh added MT-ATP6 to panel
Infantile nystagmus MT-ATP6 Ellen McDonagh reviewed MT-ATP6
Infantile nystagmus MT-ND2 Ellen McDonagh added MT-ND2 to panel
Infantile nystagmus MT-ND2 Ellen McDonagh reviewed MT-ND2
Optic neuropathy ACO2 Ellen McDonagh marked ACO2 as ready
Optic neuropathy TMEM126A Ellen McDonagh marked TMEM126A as ready
Optic neuropathy OPA8 Ellen McDonagh marked OPA8 as ready
Optic neuropathy OPA6 Ellen McDonagh marked OPA6 as ready
Optic neuropathy OPA5 Ellen McDonagh marked OPA5 as ready
Optic neuropathy OPA4 Ellen McDonagh marked OPA4 as ready
Optic neuropathy OPA2 Ellen McDonagh marked OPA2 as ready
Optic neuropathy OPA2 Ellen McDonagh commented on OPA2
Optic neuropathy OPA2 Ellen McDonagh added OPA2 to panel
Optic neuropathy OPA2 Ellen McDonagh reviewed OPA2
Optic neuropathy ACO2 Ellen McDonagh classified ACO2 as green
Optic neuropathy ACO2 Ellen McDonagh classified ACO2 as red
Optic neuropathy ACO2 Ellen McDonagh added ACO2 to panel
Optic neuropathy ACO2 Ellen McDonagh reviewed ACO2
Optic neuropathy OPA5 Ellen McDonagh added OPA5 to panel
Optic neuropathy OPA5 Ellen McDonagh reviewed OPA5
Optic neuropathy OPA4 Ellen McDonagh added OPA4 to panel
Optic neuropathy OPA4 Ellen McDonagh reviewed OPA4
Optic neuropathy OPA8 Ellen McDonagh classified OPA8 as red
Optic neuropathy OPA8 Ellen McDonagh added OPA8 to panel
Optic neuropathy OPA8 Ellen McDonagh reviewed OPA8
Optic neuropathy OPA6 Ellen McDonagh marked OPA6 as ready
Optic neuropathy OPA6 Ellen McDonagh classified OPA6 as red
Optic neuropathy OPA6 Ellen McDonagh added OPA6 to panel
Optic neuropathy OPA6 Ellen McDonagh reviewed OPA6
Optic neuropathy TMEM126A Ellen McDonagh classified TMEM126A as red
Optic neuropathy TIMM8A Ellen McDonagh classified TIMM8A as amber
Optic neuropathy TIMM8A Ellen McDonagh commented on TIMM8A
Optic neuropathy WFS1 Ellen McDonagh classified WFS1 as amber
Optic neuropathy WFS1 Ellen McDonagh commented on WFS1
Optic neuropathy TIMM8A Ellen McDonagh classified TIMM8A as amber
Optic neuropathy SPG7 Ellen McDonagh classified SPG7 as amber
Optic neuropathy SPG7 Ellen McDonagh commented on SPG7
Optic neuropathy NR2F1 Ellen McDonagh classified NR2F1 as amber
Optic neuropathy NR2F1 Ellen McDonagh classified NR2F1 as green
Optic neuropathy NR2F1 Ellen McDonagh commented on NR2F1
Optic neuropathy NR2F1 Ellen McDonagh classified NR2F1 as red
Optic neuropathy MT-ND6 Ellen McDonagh classified MT-ND6 as amber
Optic neuropathy MT-ND6 Ellen McDonagh commented on MT-ND6
Optic neuropathy MT-ND4 Ellen McDonagh classified MT-ND4 as amber
Optic neuropathy MT-ND4 Ellen McDonagh commented on MT-ND4
Optic neuropathy MT-ND1 Ellen McDonagh marked MT-ND1 as ready
Optic neuropathy MT-ND1 Ellen McDonagh classified MT-ND1 as green
Optic neuropathy MT-ND1 Ellen McDonagh commented on MT-ND1
Optic neuropathy MT-ATP6 Ellen McDonagh marked MT-ATP6 as ready
Peroxisomal disorders CBS Sarah Leigh classified CBS as red
Optic neuropathy MT-ATP6 Ellen McDonagh classified MT-ATP6 as green
Optic neuropathy MT-ATP6 Ellen McDonagh commented on MT-ATP6
Peroxisomal disorders CBS Sarah Leigh edited their review of CBS
Optic neuropathy MFN2 Ellen McDonagh classified MFN2 as amber
Optic neuropathy MFN2 Ellen McDonagh commented on MFN2
Peroxisomal disorders DYM Sarah Leigh edited their review of DYM
Peroxisomal disorders AGK Sarah Leigh classified AGK as green
Optic neuropathy GP1BA Ellen McDonagh marked GP1BA as ready
Optic neuropathy GP1BA Ellen McDonagh classified GP1BA as red
Optic neuropathy GP1BA Ellen McDonagh commented on GP1BA
Peroxisomal disorders AGK Sarah Leigh edited their review of AGK
Peroxisomal disorders AGK Sarah Leigh edited their review of AGK
Inherited bleeding disorders GP1BB Ellen McDonagh added GP1BB to panel
Inherited bleeding disorders GP1BB Ellen McDonagh reviewed GP1BB
Inherited bleeding disorders GP1BA Ellen McDonagh added GP1BA to panel
Inherited bleeding disorders GP1BA Ellen McDonagh reviewed GP1BA
Inherited bleeding disorders GP9 Ellen McDonagh added GP9 to panel
Inherited bleeding disorders GP9 Ellen McDonagh reviewed GP9
Optic neuropathy TMEM126A Ellen McDonagh commented on TMEM126A
Optic neuropathy TMEM126A Ellen McDonagh classified TMEM126A as amber
Optic neuropathy RTN4IP1 Ellen McDonagh classified RTN4IP1 as amber
Optic neuropathy RTN4IP1 Ellen McDonagh added RTN4IP1 to panel
Optic neuropathy RTN4IP1 Ellen McDonagh reviewed RTN4IP1
Optic neuropathy OPA3 Ellen McDonagh marked OPA3 as ready
Optic neuropathy OPA3 Ellen McDonagh commented on OPA3
Optic neuropathy OPA1 Ellen McDonagh marked OPA1 as ready
Optic neuropathy OPA1 Ellen McDonagh commented on OPA1
Infantile enterocolitis & monogenic inflammatory bowel disease TTC37 Sarah Leigh edited their review of TTC37
Infantile enterocolitis & monogenic inflammatory bowel disease IL10RA Sarah Leigh edited their review of IL10RA
Infantile enterocolitis & monogenic inflammatory bowel disease ZAP70 Sarah Leigh edited their review of ZAP70
Infantile enterocolitis & monogenic inflammatory bowel disease ZAP70 Sarah Leigh commented on ZAP70
Infantile enterocolitis & monogenic inflammatory bowel disease RAG2 Sarah Leigh reviewed RAG2
Infantile enterocolitis & monogenic inflammatory bowel disease PLCG2 Sarah Leigh reviewed PLCG2
Infantile enterocolitis & monogenic inflammatory bowel disease NCF1 Sarah Leigh reviewed NCF1
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3CD Sarah Leigh edited their review of PIK3CD
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3CD Sarah Leigh commented on PIK3CD
Infantile enterocolitis & monogenic inflammatory bowel disease PIK3R1 Sarah Leigh reviewed PIK3R1
Infantile enterocolitis & monogenic inflammatory bowel disease LIG4 Sarah Leigh edited their review of LIG4
Infantile enterocolitis & monogenic inflammatory bowel disease LIG4 Sarah Leigh commented on LIG4
Infantile enterocolitis & monogenic inflammatory bowel disease IL2RG Sarah Leigh edited their review of IL2RG
Infantile enterocolitis & monogenic inflammatory bowel disease IL2RG Sarah Leigh commented on IL2RG
Infantile enterocolitis & monogenic inflammatory bowel disease ITGB2 Sarah Leigh reviewed ITGB2
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Sarah Leigh edited their review of IKBKG
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Sarah Leigh edited their review of IKBKG
Infantile enterocolitis & monogenic inflammatory bowel disease IKBKG Sarah Leigh commented on IKBKG
Infantile enterocolitis & monogenic inflammatory bowel disease GUCY2C Sarah Leigh edited their review of GUCY2C
Infantile enterocolitis & monogenic inflammatory bowel disease GUCY2C Sarah Leigh commented on GUCY2C
Infantile enterocolitis & monogenic inflammatory bowel disease DOCK8 Sarah Leigh commented on DOCK8
Early onset dystonia ATM Ellen Thomas marked ATM as ready
Early onset dystonia ATM Ellen Thomas classified ATM as green
Early onset dystonia ATM Ellen Thomas commented on ATM
Early onset dystonia APTX Ellen Thomas marked APTX as ready
Early onset dystonia APTX Ellen Thomas classified APTX as green
Early onset dystonia APTX Ellen Thomas commented on APTX
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh classified LYST as red
Ocular and oculo-cutaneous albinism LYST Ellen McDonagh commented on LYST
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh classified SLC24A5 as red
Ocular and oculo-cutaneous albinism SLC24A5 Ellen McDonagh commented on SLC24A5
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh classified C10orf11 as red
Ocular and oculo-cutaneous albinism C10orf11 Ellen McDonagh commented on C10orf11
Ocular and oculo-cutaneous albinism TYRP1 Ellen McDonagh commented on TYRP1
Ocular and oculo-cutaneous albinism TYRP1 Ellen McDonagh classified TYRP1 as green
Ocular and oculo-cutaneous albinism TYR Ellen McDonagh classified TYR as green
Ocular and oculo-cutaneous albinism TYR Ellen McDonagh commented on TYR
Ocular and oculo-cutaneous albinism OCA2 Ellen McDonagh marked OCA2 as ready
Ocular and oculo-cutaneous albinism OCA2 Ellen McDonagh classified OCA2 as green
Ocular and oculo-cutaneous albinism OCA2 Ellen McDonagh commented on OCA2
Intellectual disability SNX14 Philip Stanier reviewed SNX14
Intellectual disability PTDSS1 Philip Stanier reviewed PTDSS1
Clefting TBX22 Philip Stanier reviewed TBX22
Ocular and oculo-cutaneous albinism GPR143 Ellen McDonagh marked GPR143 as ready
Ocular and oculo-cutaneous albinism GPR143 Ellen McDonagh classified GPR143 as green
Ocular and oculo-cutaneous albinism GPR143 Ellen McDonagh commented on GPR143
Ocular and oculo-cutaneous albinism SLC45A2 Ellen McDonagh marked SLC45A2 as ready
Ocular and oculo-cutaneous albinism SLC45A2 Ellen McDonagh classified SLC45A2 as green
Ocular and oculo-cutaneous albinism SLC45A2 Ellen McDonagh commented on SLC45A2
Ocular and oculo-cutaneous albinism TYRP1 Penny Clouston reviewed TYRP1
Ocular and oculo-cutaneous albinism TYR Penny Clouston reviewed TYR
Ocular and oculo-cutaneous albinism SLC45A2 Penny Clouston reviewed SLC45A2
Ocular and oculo-cutaneous albinism SLC24A5 Penny Clouston reviewed SLC24A5
Ocular and oculo-cutaneous albinism OCA2 Penny Clouston reviewed OCA2
Ocular and oculo-cutaneous albinism MITF Penny Clouston reviewed MITF
Ocular and oculo-cutaneous albinism LYST Penny Clouston reviewed LYST
Ocular and oculo-cutaneous albinism GPR143 Penny Clouston reviewed GPR143
Ocular and oculo-cutaneous albinism C10orf11 Penny Clouston reviewed C10orf11
Infantile enterocolitis & monogenic inflammatory bowel disease CD3G Sarah Leigh reviewed CD3G
Infantile enterocolitis & monogenic inflammatory bowel disease ADA Sarah Leigh edited their review of ADA
Infantile enterocolitis & monogenic inflammatory bowel disease ADA Sarah Leigh edited their review of ADA
Infantile enterocolitis & monogenic inflammatory bowel disease ADA Sarah Leigh commented on ADA
Infantile enterocolitis & monogenic inflammatory bowel disease ADAM17 Sarah Leigh reviewed ADAM17
Infantile enterocolitis & monogenic inflammatory bowel disease XIAP Sarah Leigh reviewed XIAP
Infantile enterocolitis & monogenic inflammatory bowel disease WAS Sarah Leigh edited their review of WAS
Infantile enterocolitis & monogenic inflammatory bowel disease WAS Sarah Leigh commented on WAS
Infantile enterocolitis & monogenic inflammatory bowel disease STXBP2 Sarah Leigh reviewed STXBP2
Infantile enterocolitis & monogenic inflammatory bowel disease SLC37A4 Sarah Leigh edited their review of SLC37A4
Infantile enterocolitis & monogenic inflammatory bowel disease SLC37A4 Sarah Leigh commented on SLC37A4
Infantile enterocolitis & monogenic inflammatory bowel disease SH2D1A Sarah Leigh commented on SH2D1A
Infantile enterocolitis & monogenic inflammatory bowel disease PTEN Sarah Leigh edited their review of PTEN
Infantile enterocolitis & monogenic inflammatory bowel disease PTEN Sarah Leigh commented on PTEN
Infantile enterocolitis & monogenic inflammatory bowel disease NCF4 Sarah Leigh commented on NCF4
Infantile enterocolitis & monogenic inflammatory bowel disease NCF2 Sarah Leigh commented on NCF2
Infantile enterocolitis & monogenic inflammatory bowel disease MVK Sarah Leigh reviewed MVK
Infantile enterocolitis & monogenic inflammatory bowel disease MEFV Sarah Leigh commented on MEFV
Infantile enterocolitis & monogenic inflammatory bowel disease IL2RA Sarah Leigh edited their review of IL2RA
Infantile enterocolitis & monogenic inflammatory bowel disease IL2RA Sarah Leigh commented on IL2RA
Infantile enterocolitis & monogenic inflammatory bowel disease ICOS Sarah Leigh commented on ICOS
Infantile enterocolitis & monogenic inflammatory bowel disease HPS6 Sarah Leigh commented on HPS6
Infantile enterocolitis & monogenic inflammatory bowel disease HPS6 Sarah Leigh reviewed HPS6
Infantile enterocolitis & monogenic inflammatory bowel disease HPS4 Sarah Leigh commented on HPS4
Infantile enterocolitis & monogenic inflammatory bowel disease HPS1 Sarah Leigh commented on HPS1
Infantile enterocolitis & monogenic inflammatory bowel disease DCLRE1C Sarah Leigh commented on DCLRE1C
Infantile enterocolitis & monogenic inflammatory bowel disease CYBB Sarah Leigh edited their review of CYBB
Infantile enterocolitis & monogenic inflammatory bowel disease CYBB Sarah Leigh commented on CYBB
Infantile enterocolitis & monogenic inflammatory bowel disease CYBA Sarah Leigh commented on CYBA
Infantile enterocolitis & monogenic inflammatory bowel disease CD40LG Sarah Leigh commented on CD40LG
Infantile enterocolitis & monogenic inflammatory bowel disease CD40LG Sarah Leigh commented on CD40LG
Infantile enterocolitis & monogenic inflammatory bowel disease BTK Sarah Leigh commented on BTK
Infantile enterocolitis & monogenic inflammatory bowel disease AICDA Sarah Leigh commented on AICDA
Infantile enterocolitis & monogenic inflammatory bowel disease TTC37 Sarah Leigh reviewed TTC37
Infantile enterocolitis & monogenic inflammatory bowel disease SKIV2L Sarah Leigh edited their review of SKIV2L
Infantile enterocolitis & monogenic inflammatory bowel disease SKIV2L Sarah Leigh reviewed SKIV2L
Infantile enterocolitis & monogenic inflammatory bowel disease LRBA Sarah Leigh reviewed LRBA
Infantile enterocolitis & monogenic inflammatory bowel disease FOXP3 Sarah Leigh reviewed FOXP3
Early onset dystonia PNKD Ellen McDonagh marked PNKD as ready
Early onset dystonia PNKD Ellen McDonagh marked PNKD as ready
Early onset dystonia DCTN1 Ellen McDonagh marked DCTN1 as ready
Early onset dystonia DCTN1 Ellen McDonagh classified DCTN1 as red
Infantile enterocolitis & monogenic inflammatory bowel disease IL10 Sarah Leigh commented on IL10
Early onset dystonia TUBB4A Ellen McDonagh marked TUBB4A as ready
Early onset dystonia TUBB4A Ellen McDonagh classified TUBB4A as green
Early onset dystonia PINK1 Ellen McDonagh marked PINK1 as ready
Early onset dystonia PINK1 Ellen McDonagh classified PINK1 as green
Infantile enterocolitis & monogenic inflammatory bowel disease IL10RB Sarah Leigh classified IL10RB as green
Early onset dystonia PARK7 Ellen McDonagh marked PARK7 as ready
Early onset dystonia PARK7 Ellen McDonagh classified PARK7 as red
Infantile enterocolitis & monogenic inflammatory bowel disease IL10RB Sarah Leigh commented on IL10RB
Early onset dystonia DCAF17 Ellen McDonagh marked DCAF17 as ready
Early onset dystonia DCAF17 Ellen McDonagh classified DCAF17 as green
Early onset dystonia CP Ellen McDonagh marked CP as ready
Early onset dystonia COASY Ellen McDonagh marked COASY as ready
Early onset dystonia COASY Ellen McDonagh classified COASY as green
Infantile enterocolitis & monogenic inflammatory bowel disease TTC7A Sarah Leigh classified TTC7A as green
Infantile enterocolitis & monogenic inflammatory bowel disease IL10RA Sarah Leigh classified IL10RA as green
Infantile enterocolitis & monogenic inflammatory bowel disease IL10RA Sarah Leigh reviewed IL10RA
Early onset dystonia ANO3 Ellen McDonagh marked ANO3 as ready
Early onset dystonia ANO3 Ellen McDonagh classified ANO3 as green
Infantile enterocolitis & monogenic inflammatory bowel disease EPCAM Sarah Leigh added EPCAM to panel
Infantile enterocolitis & monogenic inflammatory bowel disease EPCAM Sarah Leigh reviewed EPCAM
Infantile enterocolitis & monogenic inflammatory bowel disease TTC7A Sarah Leigh edited their review of TTC7A
Mitochondrial disorders ABAT Richard Scott classified ABAT as green
Mitochondrial disorders ABAT Richard Scott reviewed ABAT
Infantile enterocolitis & monogenic inflammatory bowel disease TTC7A Sarah Leigh commented on TTC7A
Neurofibromatosis Type 1 Ellen McDonagh approved panel
Inherited white matter disorders MCOLN1 Sarah Leigh added MCOLN1 to panel
Inherited white matter disorders MCOLN1 Sarah Leigh reviewed MCOLN1
Inherited white matter disorders FOLR1 Sarah Leigh added FOLR1 to panel
Inherited white matter disorders FOLR1 Sarah Leigh reviewed FOLR1
Severe early-onset obesity TUB Ayesha Ahmed classified TUB as amber
Severe early-onset obesity TUB Ayesha Ahmed commented on TUB
Severe early-onset obesity TTC8 Ayesha Ahmed marked TTC8 as ready
Severe early-onset obesity TTC8 Ayesha Ahmed classified TTC8 as green
Severe early-onset obesity TTC8 Ayesha Ahmed commented on TTC8
Severe early-onset obesity TRIM32 Ayesha Ahmed classified TRIM32 as amber
Severe early-onset obesity TRIM32 Ayesha Ahmed commented on TRIM32
Severe early-onset obesity SDCCAG8 Ayesha Ahmed marked SDCCAG8 as ready
Severe early-onset obesity SDCCAG8 Ayesha Ahmed classified SDCCAG8 as green
Severe early-onset obesity SDCCAG8 Ayesha Ahmed commented on SDCCAG8
Inherited white matter disorders GJA1 Sarah Leigh edited their review of GJA1
Inherited white matter disorders GJA1 Sarah Leigh commented on GJA1
Inherited white matter disorders GJB1 Sarah Leigh added GJB1 to panel
Inherited white matter disorders GJB1 Sarah Leigh reviewed GJB1
Gastrointestinal neuromuscular disorders SGOL1 Sarah Leigh added SGOL1 to panel
Gastrointestinal neuromuscular disorders SGOL1 Sarah Leigh reviewed SGOL1
Gastrointestinal neuromuscular disorders DMD Sarah Leigh added DMD to panel
Gastrointestinal neuromuscular disorders DMD Sarah Leigh reviewed DMD
Gastrointestinal neuromuscular disorders MT-TK Sarah Leigh added MT-TK to panel
Gastrointestinal neuromuscular disorders MT-TK Sarah Leigh reviewed MT-TK
Familial dysautonomia FAM134B Sarah Leigh added FAM134B to panel
Familial dysautonomia FAM134B Sarah Leigh reviewed FAM134B
Familial dysautonomia SPTLC1 Sarah Leigh added SPTLC1 to panel
Familial dysautonomia SPTLC1 Sarah Leigh reviewed SPTLC1
Familial dysautonomia PRDM12 Sarah Leigh edited their review of PRDM12
Familial dysautonomia PRDM12 Sarah Leigh added PRDM12 to panel
Familial dysautonomia PRDM12 Sarah Leigh reviewed PRDM12
Familial dysautonomia ATL3 Sarah Leigh added ATL3 to panel
Familial dysautonomia ATL3 Sarah Leigh reviewed ATL3
Familial dysautonomia ATL1 Sarah Leigh edited their review of ATL1
Familial dysautonomia ATL1 Sarah Leigh added ATL1 to panel
Familial dysautonomia ATL1 Sarah Leigh reviewed ATL1
Familial dysautonomia SPTLC2 Sarah Leigh edited their review of SPTLC2
Familial dysautonomia SPTLC2 Sarah Leigh added SPTLC2 to panel
Familial dysautonomia SPTLC2 Sarah Leigh reviewed SPTLC2
Familial dysautonomia DNMT1 Sarah Leigh edited their review of DNMT1
Familial dysautonomia DNMT1 Sarah Leigh edited their review of DNMT1
Familial dysautonomia DNMT1 Sarah Leigh added DNMT1 to panel
Familial dysautonomia DNMT1 Sarah Leigh reviewed DNMT1
Familial dysautonomia PRNP Sarah Leigh commented on PRNP
Familial dysautonomia PRNP Sarah Leigh added PRNP to panel
Familial dysautonomia PRNP Sarah Leigh reviewed PRNP
Familial dysautonomia SCN11A Sarah Leigh edited their review of SCN11A
Familial dysautonomia WNK1 Sarah Leigh edited their review of WNK1
Familial dysautonomia WNK1 Sarah Leigh commented on WNK1
Familial dysautonomia WNK1 Sarah Leigh added WNK1 to panel
Familial dysautonomia WNK1 Sarah Leigh reviewed WNK1
Rare multisystem ciliopathy disorders PIBF1 Ellen McDonagh added PIBF1 to panel
Rare multisystem ciliopathy disorders PIBF1 Ellen McDonagh reviewed PIBF1
Rare multisystem ciliopathy disorders TTC21B Ellen McDonagh classified TTC21B as amber
Rare multisystem ciliopathy disorders TTC21B Ellen McDonagh commented on TTC21B
Rare multisystem ciliopathy disorders TMEM67 Ellen McDonagh marked TMEM67 as ready
Rare multisystem ciliopathy disorders TMEM67 Ellen McDonagh classified TMEM67 as green
Rare multisystem ciliopathy disorders TMEM237 Ellen McDonagh marked TMEM237 as ready
Rare multisystem ciliopathy disorders TMEM237 Ellen McDonagh classified TMEM237 as green
Rare multisystem ciliopathy disorders TMEM237 Ellen McDonagh commented on TMEM237
Rare multisystem ciliopathy disorders TMEM216 Ellen McDonagh marked TMEM216 as ready
Rare multisystem ciliopathy disorders TMEM216 Ellen McDonagh classified TMEM216 as green
Rare multisystem ciliopathy disorders TMEM216 Ellen McDonagh commented on TMEM216
Rare multisystem ciliopathy disorders TMEM138 Ellen McDonagh marked TMEM138 as ready
Rare multisystem ciliopathy disorders TMEM138 Ellen McDonagh classified TMEM138 as green
Rare multisystem ciliopathy disorders TMEM138 Ellen McDonagh commented on TMEM138
Rare multisystem ciliopathy disorders TCTN3 Ellen McDonagh marked TCTN3 as ready
Rare multisystem ciliopathy disorders TCTN3 Ellen McDonagh classified TCTN3 as green
Rare multisystem ciliopathy disorders TCTN3 Ellen McDonagh commented on TCTN3
Rare multisystem ciliopathy disorders TCTN2 Ellen McDonagh marked TCTN2 as ready
Rare multisystem ciliopathy disorders TCTN2 Ellen McDonagh classified TCTN2 as green
Rare multisystem ciliopathy disorders TCTN2 Ellen McDonagh commented on TCTN2
Rare multisystem ciliopathy disorders TCTN1 Ellen McDonagh marked TCTN1 as ready
Rare multisystem ciliopathy disorders TCTN1 Ellen McDonagh classified TCTN1 as green
Rare multisystem ciliopathy disorders TCTN1 Ellen McDonagh commented on TCTN1
Rare multisystem ciliopathy disorders RPGRIP1L Ellen McDonagh marked RPGRIP1L as ready
Rare multisystem ciliopathy disorders RPGRIP1L Ellen McDonagh classified RPGRIP1L as green
Rare multisystem ciliopathy disorders RPGRIP1L Ellen McDonagh commented on RPGRIP1L
Rare multisystem ciliopathy disorders OFD1 Ellen McDonagh marked OFD1 as ready
Rare multisystem ciliopathy disorders OFD1 Ellen McDonagh classified OFD1 as green
Rare multisystem ciliopathy disorders OFD1 Ellen McDonagh classified OFD1 as green
Rare multisystem ciliopathy disorders NPHP1 Ellen McDonagh classified NPHP1 as amber
Rare multisystem ciliopathy disorders NPHP1 Ellen McDonagh commented on NPHP1
Rare multisystem ciliopathy disorders KIF7 Ellen McDonagh classified KIF7 as amber
Rare multisystem ciliopathy disorders KIF7 Ellen McDonagh commented on KIF7
Rare multisystem ciliopathy disorders KIAA0586 Ellen McDonagh marked KIAA0586 as ready
Rare multisystem ciliopathy disorders KIAA0586 Ellen McDonagh classified KIAA0586 as green
Rare multisystem ciliopathy disorders KIAA0586 Ellen McDonagh commented on KIAA0586
Rare multisystem ciliopathy disorders INPP5E Ellen McDonagh marked INPP5E as ready
Rare multisystem ciliopathy disorders INPP5E Ellen McDonagh classified INPP5E as green
Rare multisystem ciliopathy disorders INPP5E Ellen McDonagh commented on INPP5E
Rare multisystem ciliopathy disorders CSPP1 Ellen McDonagh marked CSPP1 as ready
Rare multisystem ciliopathy disorders CSPP1 Ellen McDonagh classified CSPP1 as green
Rare multisystem ciliopathy disorders CSPP1 Ellen McDonagh commented on CSPP1
Rare multisystem ciliopathy disorders CEP41 Ellen McDonagh marked CEP41 as ready
Rare multisystem ciliopathy disorders CEP41 Ellen McDonagh classified CEP41 as green
Rare multisystem ciliopathy disorders CEP41 Ellen McDonagh commented on CEP41
Rare multisystem ciliopathy disorders CEP290 Ellen McDonagh marked CEP290 as ready
Rare multisystem ciliopathy disorders CEP290 Ellen McDonagh classified CEP290 as green
Rare multisystem ciliopathy disorders CC2D2A Ellen McDonagh marked CC2D2A as ready
Rare multisystem ciliopathy disorders CC2D2A Ellen McDonagh classified CC2D2A as green
Rare multisystem ciliopathy disorders C5orf42 Ellen McDonagh marked C5orf42 as ready
Rare multisystem ciliopathy disorders C5orf42 Ellen McDonagh classified C5orf42 as green
Rare multisystem ciliopathy disorders C5orf42 Ellen McDonagh commented on C5orf42
Rare multisystem ciliopathy disorders ARL13B Ellen McDonagh marked ARL13B as ready
Rare multisystem ciliopathy disorders ARL13B Ellen McDonagh classified ARL13B as green
Rare multisystem ciliopathy disorders ARL13B Ellen McDonagh commented on ARL13B
Rare multisystem ciliopathy disorders AHI1 Ellen McDonagh marked AHI1 as ready
Rare multisystem ciliopathy disorders AHI1 Ellen McDonagh classified AHI1 as green
Familial dysautonomia SCN11A Sarah Leigh added SCN11A to panel
Familial dysautonomia SCN11A Sarah Leigh reviewed SCN11A
Familial dysautonomia KIF1A Sarah Leigh edited their review of KIF1A
Familial dysautonomia KIF1A Sarah Leigh added KIF1A to panel
Familial dysautonomia KIF1A Sarah Leigh reviewed KIF1A
Familial dysautonomia DST Sarah Leigh edited their review of DST
Familial dysautonomia DST Sarah Leigh edited their review of DST
Familial dysautonomia DST Sarah Leigh edited their review of DST
Familial dysautonomia DST Sarah Leigh added DST to panel
Familial dysautonomia DST Sarah Leigh reviewed DST
Familial dysautonomia TECPR2 Sarah Leigh edited their review of TECPR2
Familial dysautonomia TECPR2 Sarah Leigh added TECPR2 to panel
Familial dysautonomia TECPR2 Sarah Leigh reviewed TECPR2
Familial dysautonomia NTRK1 Sarah Leigh edited their review of NTRK1
Familial dysautonomia NTRK1 Sarah Leigh commented on NTRK1
Familial dysautonomia NGF Sarah Leigh edited their review of NGF
Familial dysautonomia NGF Sarah Leigh commented on NGF
Inherited white matter disorders ADCK3 Ellen McDonagh commented on ADCK3
Inherited white matter disorders ADCK3 Ellen McDonagh marked ADCK3 as ready
Inherited white matter disorders ADCK3 Ellen McDonagh classified ADCK3 as green
Inherited white matter disorders ADCK3 Ellen McDonagh added ADCK3 to panel
Inherited white matter disorders ADCK3 Ellen McDonagh reviewed ADCK3
Familial dysautonomia IKBKAP Sarah Leigh edited their review of IKBKAP
Familial dysautonomia IKBKAP Sarah Leigh edited their review of IKBKAP
Familial dysautonomia IKBKAP Sarah Leigh commented on IKBKAP
Inherited white matter disorders MPLKIP Ellen McDonagh classified MPLKIP as amber
Inherited white matter disorders MPLKIP Ellen McDonagh added MPLKIP to panel
Inherited white matter disorders MPLKIP Ellen McDonagh reviewed MPLKIP
Inherited white matter disorders BCAP31 Ellen McDonagh classified BCAP31 as amber
Inherited white matter disorders BCAP31 Ellen McDonagh commented on BCAP31
Inherited white matter disorders L2HGDH Ellen McDonagh classified L2HGDH as amber
Inherited white matter disorders L2HGDH Ellen McDonagh added L2HGDH to panel
Inherited white matter disorders L2HGDH Ellen McDonagh reviewed L2HGDH
Inherited white matter disorders D2HGDH Ellen McDonagh classified D2HGDH as amber
Inherited white matter disorders D2HGDH Ellen McDonagh added D2HGDH to panel
Inherited white matter disorders D2HGDH Ellen McDonagh reviewed D2HGDH
Inherited white matter disorders GJA1 Ellen McDonagh classified GJA1 as amber
Inherited white matter disorders SDHD Sarah Leigh classified SDHD as red
Inherited white matter disorders SDHD Sarah Leigh classified SDHD as red
Inherited white matter disorders RARS Ellen McDonagh commented on RARS
Inherited white matter disorders RARS Ellen McDonagh classified RARS as amber
Inherited white matter disorders PEX19 Ellen McDonagh marked PEX19 as ready
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as amber
Inherited white matter disorders PEX14 Ellen McDonagh marked PEX14 as ready
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as amber
Inherited white matter disorders MPZ Ellen McDonagh commented on MPZ
Inherited white matter disorders MPZ Ellen McDonagh classified MPZ as amber
Inherited white matter disorders MEF2C Ellen McDonagh classified MEF2C as amber
Inherited white matter disorders MEF2C Ellen McDonagh commented on MEF2C
Inherited white matter disorders COX15 Ellen McDonagh marked COX15 as ready
Inherited white matter disorders COX15 Ellen McDonagh classified COX15 as green
Inherited white matter disorders ARX Ellen McDonagh commented on ARX
Inherited white matter disorders ARX Ellen McDonagh classified ARX as amber
Inherited white matter disorders AIMP1 Ellen McDonagh classified AIMP1 as amber
Inherited white matter disorders AIMP1 Ellen McDonagh classified AIMP1 as amber
Inherited white matter disorders AIMP1 Ellen McDonagh commented on AIMP1
Inherited white matter disorders SDHD Sarah Leigh added SDHD to panel
Inherited white matter disorders SDHD Sarah Leigh reviewed SDHD
Inherited white matter disorders AARS2 Ellen McDonagh marked AARS2 as ready
Inherited white matter disorders AARS2 Ellen McDonagh classified AARS2 as green
Inherited white matter disorders MRPS16 Ellen McDonagh classified MRPS16 as amber
Inherited white matter disorders TUBA1A Ellen McDonagh classified TUBA1A as amber
Inherited white matter disorders TUBA1A Ellen McDonagh commented on TUBA1A
Inherited white matter disorders RELN Ellen McDonagh classified RELN as amber
Inherited white matter disorders RELN Ellen McDonagh commented on RELN
Inherited white matter disorders RELN Ellen McDonagh classified RELN as green
Inherited white matter disorders PEX2 Ellen McDonagh marked PEX2 as ready
Inherited white matter disorders PAFAH1B1 Ellen McDonagh classified PAFAH1B1 as amber
Inherited white matter disorders PAFAH1B1 Ellen McDonagh commented on PAFAH1B1
Inherited white matter disorders NDE1 Ellen McDonagh classified NDE1 as amber
Inherited white matter disorders NDE1 Ellen McDonagh commented on NDE1
Inherited white matter disorders HEPACAM Ellen McDonagh marked HEPACAM as ready
Inherited white matter disorders FLVCR2 Ellen McDonagh classified FLVCR2 as amber
Inherited white matter disorders FLVCR2 Ellen McDonagh commented on FLVCR2
Inherited white matter disorders DCX Ellen McDonagh classified DCX as amber
Inherited white matter disorders DCX Ellen McDonagh commented on DCX
Inherited white matter disorders COX10 Ellen McDonagh marked COX10 as ready
Inherited white matter disorders TYMP Ellen McDonagh marked TYMP as ready
Inherited white matter disorders TYMP Ellen McDonagh classified TYMP as green
Inherited white matter disorders TYMP Ellen McDonagh commented on TYMP
Inherited white matter disorders TUFM Ellen McDonagh classified TUFM as amber
Inherited white matter disorders TUFM Ellen McDonagh commented on TUFM
Inherited white matter disorders TACO1 Ellen McDonagh classified TACO1 as amber
Inherited white matter disorders TACO1 Ellen McDonagh commented on TACO1
Inherited white matter disorders SURF1 Ellen McDonagh marked SURF1 as ready
Inherited white matter disorders SURF1 Ellen McDonagh classified SURF1 as green
Inherited white matter disorders SURF1 Ellen McDonagh commented on SURF1
Inherited white matter disorders SUMF1 Ellen McDonagh marked SUMF1 as ready
Inherited white matter disorders SUMF1 Ellen McDonagh classified SUMF1 as green
Inherited white matter disorders SUMF1 Ellen McDonagh classified SUMF1 as grey
Inherited white matter disorders SUMF1 Ellen McDonagh commented on SUMF1
Inherited white matter disorders SUCLA2 Ellen McDonagh marked SUCLA2 as ready
Inherited white matter disorders SUCLA2 Ellen McDonagh commented on SUCLA2
Inherited white matter disorders SUCLA2 Ellen McDonagh classified SUCLA2 as green
Congenital myopathy SLC25A4 Ellen McDonagh added SLC25A4 to panel
Congenital myopathy SLC25A4 Ellen McDonagh reviewed SLC25A4
Congenital myopathy SLC25A42 Ellen McDonagh added SLC25A42 to panel
Congenital myopathy SLC25A42 Ellen McDonagh reviewed SLC25A42
Inherited white matter disorders SLC25A4 Ellen McDonagh classified SLC25A4 as amber
Inherited white matter disorders SLC25A4 Ellen McDonagh classified SLC25A4 as grey
Inherited white matter disorders SLC25A4 Ellen McDonagh commented on SLC25A4
Inherited white matter disorders SLC17A5 Ellen McDonagh marked SLC17A5 as ready
Inherited white matter disorders SLC17A5 Ellen McDonagh classified SLC17A5 as green
Inherited white matter disorders SLC17A5 Ellen McDonagh commented on SLC17A5
Inherited white matter disorders SLC16A2 Ellen McDonagh marked SLC16A2 as ready
Inherited white matter disorders SLC16A2 Ellen McDonagh classified SLC16A2 as green
Inherited white matter disorders SLC16A2 Ellen McDonagh commented on SLC16A2
Inherited white matter disorders SDHB Ellen McDonagh marked SDHB as ready
Inherited white matter disorders SDHB Ellen McDonagh classified SDHB as green
Inherited white matter disorders SDHB Ellen McDonagh classified SDHB as amber
Inherited white matter disorders SDHB Ellen McDonagh commented on SDHB
Early onset dystonia WDR45 Ellen McDonagh marked WDR45 as ready
Early onset dystonia TUBB4A Ellen McDonagh classified TUBB4A as amber
Early onset dystonia TOR1A Ellen McDonagh commented on TOR1A
Early onset dystonia THAP1 Ellen McDonagh classified THAP1 as green
Early onset dystonia TH Ellen McDonagh classified TH as green
Early onset dystonia SPR Ellen McDonagh classified SPR as green
Early onset dystonia SLC6A3 Ellen McDonagh classified SLC6A3 as green
Early onset dystonia SLC30A10 Ellen McDonagh marked SLC30A10 as ready
Early onset dystonia SLC30A10 Ellen McDonagh classified SLC30A10 as green
Inherited white matter disorders SDHAF1 Sarah Leigh marked SDHAF1 as ready
Inherited white matter disorders SDHAF1 Sarah Leigh commented on SDHAF1
Inherited white matter disorders SDHAF1 Sarah Leigh classified SDHAF1 as green
Inherited white matter disorders SCP2 Sarah Leigh commented on SCP2
Inherited white matter disorders SCP2 Sarah Leigh marked SCP2 as ready
Inherited white matter disorders SCP2 Sarah Leigh classified SCP2 as green
Inherited white matter disorders SCO2 Sarah Leigh marked SCO2 as ready
Inherited white matter disorders SCO2 Sarah Leigh commented on SCO2
Inherited white matter disorders SCO2 Sarah Leigh classified SCO2 as green
Inherited white matter disorders SCO1 Sarah Leigh marked SCO1 as ready
Inherited white matter disorders SCO1 Sarah Leigh commented on SCO1
Inherited white matter disorders SCO1 Sarah Leigh classified SCO1 as green
Rare syndromic craniosynostosis or isolated multisuture synostosis EFNB1 Ellen McDonagh commented on EFNB1
Inherited white matter disorders RRM2B Sarah Leigh marked RRM2B as ready
Inherited white matter disorders RRM2B Sarah Leigh classified RRM2B as green
Inherited white matter disorders RRM2B Sarah Leigh commented on RRM2B
Inherited white matter disorders RNASET2 Sarah Leigh marked RNASET2 as ready
Inherited white matter disorders RNASET2 Sarah Leigh commented on RNASET2
Inherited white matter disorders RNASET2 Sarah Leigh classified RNASET2 as green
Inherited white matter disorders RARS Sarah Leigh commented on RARS
Inherited white matter disorders RARS Sarah Leigh classified RARS as amber
Hereditary ataxia POLG Ellen McDonagh commented on POLG
Hereditary ataxia OPHN1 Ellen McDonagh commented on OPHN1
Inherited white matter disorders POLG2 Sarah Leigh marked POLG2 as ready
Inherited white matter disorders POLG2 Sarah Leigh commented on POLG2
Inherited white matter disorders POLG2 Sarah Leigh classified POLG2 as green
Inherited white matter disorders POLG Sarah Leigh marked POLG as ready
Inherited white matter disorders POLG Sarah Leigh commented on POLG
Inherited white matter disorders POLG Sarah Leigh classified POLG as green
Inherited white matter disorders PEX5 Sarah Leigh classified PEX5 as green
Peroxisomal disorders PEX5 Sarah Leigh marked PEX5 as ready
Inherited white matter disorders PEX5 Sarah Leigh marked PEX5 as ready
Inherited white matter disorders PEX5 Sarah Leigh commented on PEX5
Peroxisomal disorders PEX3 Sarah Leigh marked PEX3 as ready
Inherited white matter disorders PEX3 Sarah Leigh marked PEX3 as ready
Inherited white matter disorders PEX3 Sarah Leigh commented on PEX3
Inherited white matter disorders PEX3 Sarah Leigh classified PEX3 as green
Inherited white matter disorders PEX26 Sarah Leigh marked PEX26 as ready
Inherited white matter disorders PEX26 Sarah Leigh commented on PEX26
Inherited white matter disorders PEX26 Sarah Leigh classified PEX26 as green
Inherited white matter disorders PEX2 Sarah Leigh commented on PEX2
Inherited white matter disorders PEX2 Sarah Leigh classified PEX2 as green
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as green
Peroxisomal disorders PEX19 Sarah Leigh edited their review of PEX19
Peroxisomal disorders PEX11B Sarah Leigh classified PEX11B as green
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX19 Sarah Leigh commented on PEX19
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as amber
Peroxisomal disorders PEX19 Sarah Leigh reviewed PEX19
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX7 Sarah Leigh reviewed PEX7
Inherited white matter disorders PEX6 Sarah Leigh marked PEX6 as ready
Peroxisomal disorders PEX6 Sarah Leigh marked PEX6 as ready
Peroxisomal disorders PEX6 Sarah Leigh commented on PEX6
Inherited white matter disorders PEX6 Sarah Leigh marked PEX6 as ready
Inherited white matter disorders PEX6 Sarah Leigh commented on PEX6
Inherited white matter disorders PEX6 Sarah Leigh classified PEX6 as green
Early onset dystonia SLC2A1 Ellen McDonagh marked SLC2A1 as ready
Early onset dystonia SLC2A1 Ellen McDonagh classified SLC2A1 as green
Early onset dystonia SGCE Ellen McDonagh marked SGCE as ready
Early onset dystonia SGCE Ellen McDonagh classified SGCE as green
Early onset dystonia PRRT2 Ellen McDonagh marked PRRT2 as ready
Early onset dystonia PRRT2 Ellen McDonagh classified PRRT2 as green
Early onset dystonia PNKD Ellen McDonagh classified PNKD as green
Early onset dystonia PLA2G6 Ellen McDonagh marked PLA2G6 as ready
Early onset dystonia PLA2G6 Ellen McDonagh classified PLA2G6 as green
Early onset dystonia PINK1 Ellen McDonagh classified PINK1 as green
Peroxisomal disorders PEX5 Sarah Leigh edited their review of PEX5
Peroxisomal disorders PEX5 Sarah Leigh commented on PEX5
Early onset dystonia PARK7 Ellen McDonagh classified PARK7 as green
Early onset dystonia PARK2 Ellen McDonagh marked PARK2 as ready
Early onset dystonia PARK2 Ellen McDonagh classified PARK2 as green
Early onset dystonia PANK2 Ellen McDonagh marked PANK2 as ready
Early onset dystonia PANK2 Ellen McDonagh classified PANK2 as green
Early onset dystonia GCH1 Ellen McDonagh classified GCH1 as green
Early onset dystonia FTL Ellen McDonagh marked FTL as ready
Peroxisomal disorders PEX3 Sarah Leigh reviewed PEX3
Early onset dystonia FTL Ellen McDonagh classified FTL as green
Early onset dystonia FBXO7 Ellen McDonagh marked FBXO7 as ready
Early onset dystonia FBXO7 Ellen McDonagh classified FBXO7 as green
Early onset dystonia FA2H Ellen McDonagh marked FA2H as ready
Early onset dystonia FA2H Ellen McDonagh classified FA2H as green
Early onset dystonia FA2H Ellen McDonagh classified FA2H as green
Early onset dystonia DCAF17 Ellen McDonagh marked DCAF17 as ready
Early onset dystonia DCAF17 Ellen McDonagh classified DCAF17 as green
Peroxisomal disorders PEX26 Sarah Leigh reviewed PEX26
Hypogonadotropic hypogonadism DCAF17 Ellen McDonagh added DCAF17 to panel
Hypogonadotropic hypogonadism DCAF17 Ellen McDonagh reviewed DCAF17
Peroxisomal disorders PEX2 Sarah Leigh reviewed PEX2
Peroxisomal disorders PEX14 Sarah Leigh edited their review of PEX14
Peroxisomal disorders PEX16 Sarah Leigh edited their review of PEX16
Peroxisomal disorders PEX16 Sarah Leigh edited their review of PEX16
Early onset dystonia COASY Ellen McDonagh classified COASY as green
Peroxisomal disorders PEX16 Sarah Leigh commented on PEX16
Peroxisomal disorders PEX13 Sarah Leigh reviewed PEX13
Diabetes with additional phenotypes suggestive of a monogenic aetiology STAT1 Ellen McDonagh marked STAT1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology STAT1 Ellen McDonagh classified STAT1 as red
Diabetes with additional phenotypes suggestive of a monogenic aetiology STAT1 Ellen McDonagh added STAT1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology STAT1 Ellen McDonagh reviewed STAT1
Diabetes with additional phenotypes suggestive of a monogenic aetiology PCBD1 Ellen McDonagh marked PCBD1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology PCBD1 Ellen McDonagh classified PCBD1 as red
Diabetes with additional phenotypes suggestive of a monogenic aetiology PCBD1 Ellen McDonagh added PCBD1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology PCBD1 Ellen McDonagh reviewed PCBD1
Peroxisomal disorders PEX1 Sarah Leigh commented on PEX1
Diabetes with additional phenotypes suggestive of a monogenic aetiology IL2RA Ellen McDonagh marked IL2RA as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology IL2RA Ellen McDonagh classified IL2RA as red
Diabetes with additional phenotypes suggestive of a monogenic aetiology IL2RA Ellen McDonagh added IL2RA to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology IL2RA Ellen McDonagh reviewed IL2RA
Diabetes with additional phenotypes suggestive of a monogenic aetiology DCAF17 Ellen McDonagh marked DCAF17 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology DCAF17 Ellen McDonagh classified DCAF17 as red
Diabetes with additional phenotypes suggestive of a monogenic aetiology DCAF17 Ellen McDonagh added DCAF17 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology DCAF17 Ellen McDonagh reviewed DCAF17
Diabetes with additional phenotypes suggestive of a monogenic aetiology TRMT10A Ellen McDonagh marked TRMT10A as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology TRMT10A Ellen McDonagh classified TRMT10A as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology TRMT10A Ellen McDonagh added TRMT10A to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology TRMT10A Ellen McDonagh reviewed TRMT10A
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC29A3 Ellen McDonagh marked SLC29A3 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC29A3 Ellen McDonagh classified SLC29A3 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC29A3 Ellen McDonagh added SLC29A3 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC29A3 Ellen McDonagh reviewed SLC29A3
Diabetes with additional phenotypes suggestive of a monogenic aetiology POLD1 Ellen McDonagh marked POLD1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology POLD1 Ellen McDonagh classified POLD1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology POLD1 Ellen McDonagh added POLD1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology POLD1 Ellen McDonagh reviewed POLD1
Diabetes with additional phenotypes suggestive of a monogenic aetiology PLIN1 Ellen McDonagh marked PLIN1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology PLIN1 Ellen McDonagh classified PLIN1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology PLIN1 Ellen McDonagh added PLIN1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology PLIN1 Ellen McDonagh reviewed PLIN1
Diabetes with additional phenotypes suggestive of a monogenic aetiology PIK3R1 Ellen McDonagh marked PIK3R1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology PIK3R1 Ellen McDonagh classified PIK3R1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology PIK3R1 Ellen McDonagh added PIK3R1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology PIK3R1 Ellen McDonagh reviewed PIK3R1
Diabetes with additional phenotypes suggestive of a monogenic aetiology LRBA Ellen McDonagh marked LRBA as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology LRBA Ellen McDonagh classified LRBA as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology LRBA Ellen McDonagh added LRBA to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology LRBA Ellen McDonagh reviewed LRBA
Diabetes with additional phenotypes suggestive of a monogenic aetiology BSCL2 Ellen McDonagh marked BSCL2 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology BSCL2 Ellen McDonagh classified BSCL2 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology BSCL2 Ellen McDonagh added BSCL2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology BSCL2 Ellen McDonagh reviewed BSCL2
Diabetes with additional phenotypes suggestive of a monogenic aetiology AGPAT2 Ellen McDonagh marked AGPAT2 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology AGPAT2 Ellen McDonagh classified AGPAT2 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology AGPAT2 Ellen McDonagh added AGPAT2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology AGPAT2 Ellen McDonagh reviewed AGPAT2
Peroxisomal disorders EBP Sarah Leigh edited their review of EBP
Peroxisomal disorders EBP Sarah Leigh commented on EBP
Diabetes with additional phenotypes suggestive of a monogenic aetiology IER3IP1 Ellen McDonagh marked IER3IP1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology IER3IP1 Ellen McDonagh classified IER3IP1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology IER3IP1 Ellen McDonagh commented on IER3IP1
Peroxisomal disorders DYM Sarah Leigh commented on DYM
Peroxisomal disorders NSDHL Sarah Leigh edited their review of NSDHL
Peroxisomal disorders NSDHL Sarah Leigh commented on NSDHL
Peroxisomal disorders HOGA1 Sarah Leigh commented on HOGA1
Early onset dystonia C19orf12 Ellen McDonagh marked C19orf12 as ready
Early onset dystonia C19orf12 Ellen McDonagh classified C19orf12 as green
Peroxisomal disorders GRHPR Sarah Leigh commented on GRHPR
Early onset dystonia ATP7B Ellen McDonagh marked ATP7B as ready
Early onset dystonia ATP1A3 Ellen McDonagh classified ATP1A3 as green
Early onset dystonia ATP13A2 Ellen McDonagh marked ATP13A2 as ready
Early onset dystonia ANO3 Ellen McDonagh classified ANO3 as amber
Hereditary ataxia POLR3A Ellen McDonagh marked POLR3A as ready
Mitochondrial disorders DYM Sarah Leigh commented on DYM
Hereditary ataxia POLR3A Ellen McDonagh classified POLR3A as green
Peroxisomal disorders ARSE Sarah Leigh commented on ARSE
Peroxisomal disorders CBS Sarah Leigh commented on CBS
Hereditary ataxia POLR3A Ellen McDonagh classified POLR3A as red
Hereditary ataxia POLR3A Ellen McDonagh added POLR3A to panel
Hereditary ataxia POLR3A Ellen McDonagh reviewed POLR3A
Hereditary ataxia GJC2 Ellen McDonagh marked GJC2 as ready
Hereditary ataxia GJC2 Ellen McDonagh classified GJC2 as green
Hereditary ataxia GJC2 Ellen McDonagh classified GJC2 as grey
Hereditary ataxia GJC2 Ellen McDonagh added GJC2 to panel
Hereditary ataxia GJC2 Ellen McDonagh reviewed GJC2
Hereditary ataxia PRNP Ellen McDonagh marked PRNP as ready
Hereditary ataxia PRNP Ellen McDonagh classified PRNP as green
Hereditary ataxia PRNP Ellen McDonagh classified PRNP as red
Peroxisomal disorders ARSE Sarah Leigh reviewed ARSE
Peroxisomal disorders ARSE Sarah Leigh reviewed ARSE
Hereditary ataxia PRNP Ellen McDonagh added PRNP to panel
Hereditary ataxia PRNP Ellen McDonagh reviewed PRNP
Peroxisomal disorders AGK Sarah Leigh edited their review of AGK
Hereditary ataxia GFAP Ellen McDonagh marked GFAP as ready
Hereditary ataxia GFAP Ellen McDonagh classified GFAP as green
Hereditary ataxia GFAP Ellen McDonagh classified GFAP as red
Peroxisomal disorders AGK Sarah Leigh commented on AGK
Hereditary ataxia GFAP Ellen McDonagh added GFAP to panel
Hereditary ataxia GFAP Ellen McDonagh reviewed GFAP
Peroxisomal disorders ABCD3 Sarah Leigh added ABCD3 to panel
Peroxisomal disorders ABCD3 Sarah Leigh reviewed ABCD3
Peroxisomal disorders TRIM37 Sarah Leigh marked TRIM37 as ready
Peroxisomal disorders TRIM37 Sarah Leigh commented on TRIM37
Peroxisomal disorders CAT Sarah Leigh commented on CAT
Peroxisomal disorders CAT Sarah Leigh classified CAT as green
Peroxisomal disorders IDH1 Sarah Leigh added IDH1 to panel
Peroxisomal disorders IDH1 Sarah Leigh reviewed IDH1
Peroxisomal disorders SCP2 Sarah Leigh marked SCP2 as ready
Peroxisomal disorders SCP2 Sarah Leigh commented on SCP2
Early onset dystonia CHMP2B Ellen McDonagh marked CHMP2B as ready
Early onset dystonia CHMP2B Ellen McDonagh classified CHMP2B as green
Early onset dystonia WDR73 emma baple marked WDR73 as ready
Early onset dystonia WDR73 emma baple commented on WDR73
Early onset dystonia WDR73 emma baple classified WDR73 as green
Early onset dystonia WDR73 Ellen McDonagh added WDR73 to panel
Early onset dystonia WDR73 Ellen McDonagh reviewed WDR73
Peroxisomal disorders SCP2 Sarah Leigh classified SCP2 as green
Peroxisomal disorders PHYH Sarah Leigh reviewed PHYH
Peroxisomal disorders HSD17B4 Sarah Leigh marked HSD17B4 as ready
Peroxisomal disorders HSD17B4 Sarah Leigh commented on HSD17B4
Peroxisomal disorders GNPAT Sarah Leigh marked GNPAT as ready
Peroxisomal disorders GNPAT Sarah Leigh commented on GNPAT
Peroxisomal disorders DNM1L Sarah Leigh marked DNM1L as ready
Peroxisomal disorders DNM1L Sarah Leigh commented on DNM1L
Peroxisomal disorders ABCD1 Sarah Leigh marked ABCD1 as ready
Peroxisomal disorders ABCD1 Sarah Leigh commented on ABCD1
Peroxisomal disorders AMACR Sarah Leigh marked AMACR as ready
Peroxisomal disorders AMACR Sarah Leigh commented on AMACR
Peroxisomal disorders AGPS Sarah Leigh marked AGPS as ready
Peroxisomal disorders AGPS Sarah Leigh commented on AGPS
Peroxisomal disorders FAR1 Sarah Leigh marked FAR1 as ready
Peroxisomal disorders FAR1 Sarah Leigh added FAR1 to panel
Peroxisomal disorders FAR1 Sarah Leigh reviewed FAR1
Peroxisomal disorders AGXT Sarah Leigh marked AGXT as ready
Peroxisomal disorders AGXT Sarah Leigh commented on AGXT
Peroxisomal disorders ACOX1 Sarah Leigh marked ACOX1 as ready
Peroxisomal disorders ACOX1 Sarah Leigh commented on ACOX1
Inherited white matter disorders PEX16 Ellen McDonagh marked PEX16 as ready
Inherited white matter disorders PEX16 Ellen McDonagh commented on PEX16
Inherited white matter disorders PEX16 Ellen McDonagh classified PEX16 as green
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as amber
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as grey
Inherited white matter disorders PEX19 Ellen McDonagh commented on PEX19
Peroxisomal disorders PEX13 Sarah Leigh commented on PEX13
Peroxisomal disorders ABCD1 Ian Berry reviewed ABCD1
Peroxisomal disorders PEX14 Ian Berry reviewed PEX14
Peroxisomal disorders PEX19 Ian Berry reviewed PEX19
Peroxisomal disorders PEX13 Ian Berry reviewed PEX13
Peroxisomal disorders PEX16 Ian Berry reviewed PEX16
Peroxisomal disorders PEX5 Ian Berry reviewed PEX5
Peroxisomal disorders ACOX1 Ian Berry reviewed ACOX1
Peroxisomal disorders SCP2 Ian Berry reviewed SCP2
Peroxisomal disorders HSD17B4 Ian Berry reviewed HSD17B4
Peroxisomal disorders PEX26 Ian Berry reviewed PEX26
Peroxisomal disorders PEX12 Ian Berry reviewed PEX12
Peroxisomal disorders PEX10 Ian Berry reviewed PEX10
Peroxisomal disorders PEX6 Ian Berry reviewed PEX6
Peroxisomal disorders PEX3 Ian Berry reviewed PEX3
Peroxisomal disorders PEX2 Ian Berry reviewed PEX2
Peroxisomal disorders PEX1 Ian Berry reviewed PEX1
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as red
Peroxisomal disorders PEX19 Sarah Leigh reviewed PEX19
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as amber
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as red
Inherited white matter disorders PEX14 Ellen McDonagh commented on PEX14
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX11B Sarah Leigh commented on PEX11B
Inherited white matter disorders PEX13 Ellen McDonagh marked PEX13 as ready
Inherited white matter disorders PEX13 Ellen McDonagh classified PEX13 as green
Inherited white matter disorders PEX13 Ellen McDonagh classified PEX13 as grey
Inherited white matter disorders PEX13 Ellen McDonagh commented on PEX13
Peroxisomal disorders PEX14 Sarah Leigh classified PEX14 as green
Peroxisomal disorders PEX14 Sarah Leigh commented on PEX14
Peroxisomal disorders PEX12 Ellen McDonagh reviewed PEX12
Inherited white matter disorders PEX12 Ellen McDonagh marked PEX12 as ready
Inherited white matter disorders PEX12 Ellen McDonagh classified PEX12 as green
Inherited white matter disorders PEX12 Ellen McDonagh commented on PEX12
Inherited white matter disorders PEX10 Ellen McDonagh marked PEX10 as ready
Severe early-onset obesity PHF6 Ayesha Ahmed marked PHF6 as ready
Severe early-onset obesity PHF6 Ayesha Ahmed classified PHF6 as green
Severe early-onset obesity PHF6 Ayesha Ahmed commented on PHF6
Peroxisomal disorders Sarah Leigh approved panel
Peroxisomal disorders PEX10 Ellen McDonagh reviewed PEX10
Inherited white matter disorders PEX10 Ellen McDonagh classified PEX10 as green
Inherited white matter disorders PEX10 Ellen McDonagh commented on PEX10
Severe early-onset obesity MKS1 Ayesha Ahmed marked MKS1 as ready
Peroxisomal disorders PEX1 Ellen McDonagh reviewed PEX1
Inherited white matter disorders PEX1 Ellen McDonagh marked PEX1 as ready
Severe early-onset obesity MKS1 Ayesha Ahmed classified MKS1 as green
Severe early-onset obesity MKS1 Ayesha Ahmed commented on MKS1
Inherited white matter disorders PEX1 Ellen McDonagh classified PEX1 as green
Inherited white matter disorders PEX1 Ellen McDonagh classified PEX1 as grey
Inherited white matter disorders PEX1 Ellen McDonagh commented on PEX1
Inherited white matter disorders NUBPL Ellen McDonagh classified NUBPL as amber
Inherited white matter disorders NUBPL Ellen McDonagh commented on NUBPL
Inherited white matter disorders NDUFV1 Ellen McDonagh classified NDUFV1 as green
Inherited white matter disorders NDUFV1 Ellen McDonagh classified NDUFV1 as amber
Severe early-onset obesity CEP19 Ayesha Ahmed marked CEP19 as ready
Severe early-onset obesity CEP19 Ayesha Ahmed classified CEP19 as amber
Severe early-onset obesity CEP19 Ayesha Ahmed commented on CEP19
Inherited white matter disorders NDUFV1 Ellen McDonagh classified NDUFV1 as green
Inherited white matter disorders NDUFV1 Ellen McDonagh commented on NDUFV1
Inherited white matter disorders NDUFS8 Ellen McDonagh marked NDUFS8 as ready
Severe early-onset obesity BBS9 Ayesha Ahmed marked BBS9 as ready
Inherited white matter disorders NDUFS8 Ellen McDonagh classified NDUFS8 as green
Inherited white matter disorders NDUFS8 Ellen McDonagh commented on NDUFS8
Severe early-onset obesity BBS9 Ayesha Ahmed classified BBS9 as green
Severe early-onset obesity BBS9 Ayesha Ahmed commented on BBS9
Early onset dystonia GNAL Ellen McDonagh marked GNAL as ready
Inherited white matter disorders NDUFS7 Ellen McDonagh marked NDUFS7 as ready
Inherited white matter disorders NDUFS7 Ellen McDonagh classified NDUFS7 as green
Inherited white matter disorders NDUFS7 Ellen McDonagh commented on NDUFS7
Inherited white matter disorders NDUFS4 Ellen McDonagh marked NDUFS4 as ready
Inherited white matter disorders NDUFS4 Ellen McDonagh classified NDUFS4 as green
Inherited white matter disorders NDUFS4 Ellen McDonagh commented on NDUFS4
Hyperammonaemia CA5A Sarah Leigh marked CA5A as ready
Hyperammonaemia CA5A Sarah Leigh commented on CA5A
Hyperammonaemia CA5A Sarah Leigh classified CA5A as green
Clefting Ellen McDonagh approved panel
Hyperammonaemia ALDH18A1 Sarah Leigh classified ALDH18A1 as red
Hyperammonaemia TMEM70 Sarah Leigh marked TMEM70 as ready
Hyperammonaemia TMEM70 Sarah Leigh commented on TMEM70
Hyperammonaemia PYGM Sarah Leigh marked PYGM as ready
Hyperammonaemia PYGM Sarah Leigh commented on PYGM
Hyperammonaemia POLG Sarah Leigh commented on POLG
Hyperammonaemia PC Sarah Leigh marked PC as ready
Hyperammonaemia PC Sarah Leigh commented on PC
Hyperammonaemia HLCS Sarah Leigh marked HLCS as ready
Hyperammonaemia HLCS Sarah Leigh commented on HLCS
Hyperammonaemia ATPAF2 Sarah Leigh commented on ATPAF2
Hyperammonaemia ATPAF2 Sarah Leigh marked ATPAF2 as ready
Hyperammonaemia ATPAF2 Sarah Leigh classified ATPAF2 as red
Hyperammonaemia ARG1 Sarah Leigh marked ARG1 as ready
Hyperammonaemia ARG1 Sarah Leigh commented on ARG1
Hyperammonaemia ARG1 Sarah Leigh classified ARG1 as green
Hyperammonaemia SLC7A7 Sarah Leigh marked SLC7A7 as ready
Hyperammonaemia SLC7A7 Sarah Leigh commented on SLC7A7
Hyperammonaemia SLC25A20 Sarah Leigh marked SLC25A20 as ready
Hyperammonaemia SLC25A20 Sarah Leigh commented on SLC25A20
Hyperammonaemia SLC25A13 Sarah Leigh marked SLC25A13 as ready
Hyperammonaemia SLC25A13 Sarah Leigh commented on SLC25A13
Hyperammonaemia SLC22A5 Sarah Leigh marked SLC22A5 as ready
Hyperammonaemia SLC22A5 Sarah Leigh commented on SLC22A5
Hyperammonaemia PCCB Sarah Leigh marked PCCB as ready
Hyperammonaemia PCCB Sarah Leigh commented on PCCB
Hyperammonaemia PCCA Sarah Leigh marked PCCA as ready
Hyperammonaemia PCCA Sarah Leigh commented on PCCA
Hyperammonaemia OAT Sarah Leigh marked OAT as ready
Hyperammonaemia OAT Sarah Leigh commented on OAT
Hyperammonaemia OAT Sarah Leigh classified OAT as red
Hyperammonaemia MUT Sarah Leigh marked MUT as ready
Hyperammonaemia MUT Sarah Leigh commented on MUT
Hyperammonaemia MMACHC Sarah Leigh classified MMACHC as red
Hyperammonaemia MMACHC Sarah Leigh marked MMACHC as ready
Hyperammonaemia MMACHC Sarah Leigh commented on MMACHC
Hyperammonaemia MMAB Sarah Leigh marked MMAB as ready
Hyperammonaemia MMAB Sarah Leigh commented on MMAB
Hyperammonaemia MMAA Sarah Leigh marked MMAA as ready
Hyperammonaemia MMAA Sarah Leigh commented on MMAA
Hyperammonaemia IVD Sarah Leigh marked IVD as ready
Hyperammonaemia IVD Sarah Leigh classified IVD as red
Hyperammonaemia IVD Sarah Leigh commented on IVD
Hyperammonaemia HMGCS2 Sarah Leigh marked HMGCS2 as ready
Hyperammonaemia HMGCS2 Sarah Leigh commented on HMGCS2
Hyperammonaemia HMGCS2 Sarah Leigh classified HMGCS2 as red
Hyperammonaemia HMGCL Sarah Leigh marked HMGCL as ready
Hyperammonaemia HMGCL Sarah Leigh commented on HMGCL
Hyperammonaemia HADHB Sarah Leigh marked HADHB as ready
Hyperammonaemia HADHB Sarah Leigh commented on HADHB
Hyperammonaemia HADHA Sarah Leigh marked HADHA as ready
Hyperammonaemia HADHA Sarah Leigh commented on HADHA
Hyperammonaemia CPT2 Sarah Leigh marked CPT2 as ready
Hyperammonaemia CPT2 Sarah Leigh commented on CPT2
Hyperammonaemia CPT1A Sarah Leigh marked CPT1A as ready
Hyperammonaemia CPT1A Sarah Leigh commented on CPT1A
Hyperammonaemia ACADVL Sarah Leigh marked ACADVL as ready
Hyperammonaemia ACADVL Sarah Leigh commented on ACADVL
Hyperammonaemia GLUD1 Sarah Leigh marked GLUD1 as ready
Hyperammonaemia GLUD1 Sarah Leigh commented on GLUD1
Hyperammonaemia ACADM Sarah Leigh marked ACADM as ready
Hyperammonaemia ACADM Sarah Leigh commented on ACADM
Hyperammonaemia ACADM Sarah Leigh classified ACADM as green
Hyperammonaemia NAGS Sarah Leigh classified NAGS as green
Hyperammonaemia NAGS Sarah Leigh marked NAGS as ready
Hyperammonaemia NAGS Sarah Leigh commented on NAGS
Hyperammonaemia CPS1 Sarah Leigh marked CPS1 as ready
Hyperammonaemia CPS1 Sarah Leigh commented on CPS1
Hyperammonaemia CPS1 Sarah Leigh classified CPS1 as green
Hyperammonaemia ASL Sarah Leigh commented on ASL
Atypical haemolytic uraemic syndrome Sarah Leigh promoted panel to version 1
Atypical haemolytic uraemic syndrome THBD Sarah Leigh marked THBD as ready
Atypical haemolytic uraemic syndrome THBD Sarah Leigh classified THBD as red
Unexplained kidney failure in young people Sarah Leigh promoted panel to version 1
Atypical haemolytic uraemic syndrome DGKE Sarah Leigh marked DGKE as ready
Atypical haemolytic uraemic syndrome DGKE Sarah Leigh classified DGKE as green
Atypical haemolytic uraemic syndrome DGKE Sarah Leigh added DGKE to panel
Atypical haemolytic uraemic syndrome DGKE Sarah Leigh reviewed DGKE
Inherited white matter disorders NDUFS2 Ellen McDonagh marked NDUFS2 as ready
Inherited white matter disorders NDUFS2 Ellen McDonagh classified NDUFS2 as green
Inherited white matter disorders NDUFS2 Ellen McDonagh commented on NDUFS2
Mitochondrial disorders TMEM126B Carl Fratter reviewed TMEM126B
Inherited white matter disorders NDUFS1 Ellen McDonagh marked NDUFS1 as ready
Inherited white matter disorders NDUFS1 Ellen McDonagh classified NDUFS1 as green
Inherited white matter disorders NDUFS1 Ellen McDonagh commented on NDUFS1
Inherited white matter disorders NDUFS1 Ellen McDonagh classified NDUFS1 as grey
Inherited white matter disorders NDUFAF1 Ellen McDonagh marked NDUFAF1 as ready
Inherited white matter disorders NDUFAF1 Ellen McDonagh classified NDUFAF1 as green
Inherited white matter disorders NDUFAF1 Ellen McDonagh classified NDUFAF1 as amber
Inherited white matter disorders NDUFAF1 Ellen McDonagh classified NDUFAF1 as grey
Inherited white matter disorders NDUFAF1 Ellen McDonagh commented on NDUFAF1
Mitochondrial disorders TMEM126B Ellen McDonagh classified TMEM126B as amber
Mitochondrial disorders TMEM126B Ellen McDonagh reviewed TMEM126B
Inherited white matter disorders MRPS16 Ellen McDonagh classified MRPS16 as red
Inherited white matter disorders MRPS16 Ellen McDonagh commented on MRPS16
Mitochondrial disorders MRPS16 Ellen McDonagh commented on MRPS16
Inherited white matter disorders MLC1 Ellen McDonagh marked MLC1 as ready
Inherited white matter disorders MLC1 Ellen McDonagh classified MLC1 as green
Inherited white matter disorders MLC1 Ellen McDonagh commented on MLC1
Atypical haemolytic uraemic syndrome THBD Sarah Leigh edited their review of THBD
Inherited white matter disorders IFIH1 Ellen McDonagh marked IFIH1 as ready
Inherited white matter disorders IFIH1 Ellen McDonagh classified IFIH1 as green
Inherited white matter disorders IFIH1 Ellen McDonagh commented on IFIH1
Inherited white matter disorders HSD17B4 Ellen McDonagh marked HSD17B4 as ready
Inherited white matter disorders HSD17B4 Ellen McDonagh classified HSD17B4 as green
Inherited white matter disorders HSD17B4 Ellen McDonagh commented on HSD17B4
Inherited white matter disorders HEPACAM Ellen McDonagh classified HEPACAM as green
Inherited white matter disorders HEPACAM Ellen McDonagh commented on HEPACAM
Inherited white matter disorders GFM1 Ellen McDonagh marked GFM1 as ready
Inherited white matter disorders GFM1 Ellen McDonagh classified GFM1 as green
Inherited white matter disorders GFM1 Ellen McDonagh commented on GFM1
Inherited white matter disorders GBE1 Ellen McDonagh marked GBE1 as ready
Inherited white matter disorders GBE1 Ellen McDonagh classified GBE1 as green
Inherited white matter disorders GBE1 Ellen McDonagh classified GBE1 as grey
Inherited white matter disorders GBE1 Ellen McDonagh commented on GBE1
Inherited white matter disorders FUCA1 Ellen McDonagh marked FUCA1 as ready
Inherited white matter disorders FUCA1 Ellen McDonagh classified FUCA1 as green
Inherited white matter disorders FUCA1 Ellen McDonagh classified FUCA1 as green
Inherited white matter disorders FUCA1 Ellen McDonagh commented on FUCA1
Inherited white matter disorders ETFDH Ellen McDonagh marked ETFDH as ready
Inherited white matter disorders ETFDH Ellen McDonagh classified ETFDH as green
Inherited white matter disorders ETFDH Ellen McDonagh commented on ETFDH
Inherited white matter disorders ERCC8 Ellen McDonagh marked ERCC8 as ready
Inherited white matter disorders ERCC8 Ellen McDonagh classified ERCC8 as green
Inherited white matter disorders ERCC8 Ellen McDonagh commented on ERCC8
Inherited white matter disorders ERCC6 Ellen McDonagh marked ERCC6 as ready
Inherited white matter disorders ERCC6 Ellen McDonagh classified ERCC6 as green
Inherited white matter disorders ERCC6 Ellen McDonagh commented on ERCC6
Inherited white matter disorders EARS2 Ellen McDonagh classified EARS2 as green
Inherited white matter disorders EARS2 Ellen McDonagh marked EARS2 as ready
Inherited white matter disorders EARS2 Ellen McDonagh classified EARS2 as grey
Inherited white matter disorders EARS2 Ellen McDonagh commented on EARS2
Atypical haemolytic uraemic syndrome THBD Sarah Leigh commented on THBD
Atypical haemolytic uraemic syndrome CFB Sarah Leigh marked CFB as ready
Atypical haemolytic uraemic syndrome CFB Sarah Leigh classified CFB as green
Atypical haemolytic uraemic syndrome CFB Sarah Leigh commented on CFB
Atypical haemolytic uraemic syndrome C3 Sarah Leigh classified C3 as green
Atypical haemolytic uraemic syndrome C3 Sarah Leigh marked C3 as ready
Atypical haemolytic uraemic syndrome C3 Sarah Leigh commented on C3
Severe early-onset obesity BBS7 Ayesha Ahmed marked BBS7 as ready
Atypical haemolytic uraemic syndrome CFI Sarah Leigh marked CFI as ready
Atypical haemolytic uraemic syndrome CFI Sarah Leigh commented on CFI
Atypical haemolytic uraemic syndrome CFH Sarah Leigh marked CFH as ready
Atypical haemolytic uraemic syndrome CFH Sarah Leigh commented on CFH
Atypical haemolytic uraemic syndrome CFHR1 Sarah Leigh marked CFHR1 as ready
Atypical haemolytic uraemic syndrome CFHR1 Sarah Leigh classified CFHR1 as green
Atypical haemolytic uraemic syndrome CFHR1 Sarah Leigh added CFHR1 to panel
Atypical haemolytic uraemic syndrome CFHR1 Sarah Leigh reviewed CFHR1
Atypical haemolytic uraemic syndrome CFHR3 Sarah Leigh classified CFHR3 as green
Atypical haemolytic uraemic syndrome CFHR3 Sarah Leigh marked CFHR3 as ready
Atypical haemolytic uraemic syndrome CFHR3 Sarah Leigh added CFHR3 to panel
Atypical haemolytic uraemic syndrome CFHR3 Sarah Leigh reviewed CFHR3
Atypical haemolytic uraemic syndrome CD46 Sarah Leigh marked CD46 as ready
Atypical haemolytic uraemic syndrome CD46 Sarah Leigh commented on CD46
Inherited white matter disorders DGUOK Ellen McDonagh marked DGUOK as ready
Inherited white matter disorders DGUOK Ellen McDonagh commented on DGUOK
Inherited white matter disorders DGUOK Ellen McDonagh classified DGUOK as green
Infantile nystagmus DGUOK Ellen McDonagh added DGUOK to panel
Infantile nystagmus DGUOK Ellen McDonagh reviewed DGUOK
Inherited white matter disorders DARS2 Ellen McDonagh marked DARS2 as ready
Inherited white matter disorders DARS2 Ellen McDonagh classified DARS2 as green
Inherited white matter disorders DARS2 Ellen McDonagh classified DARS2 as grey
Inherited white matter disorders DARS2 Ellen McDonagh commented on DARS2
Severe early-onset obesity BBS7 Ayesha Ahmed classified BBS7 as green
Severe early-onset obesity BBS7 Ayesha Ahmed commented on BBS7
Severe early-onset obesity BBS5 Ayesha Ahmed marked BBS5 as ready
Severe early-onset obesity BBS5 Ayesha Ahmed classified BBS5 as green
Severe early-onset obesity BBS5 Ayesha Ahmed classified BBS5 as green
Severe early-onset obesity BBS5 Ayesha Ahmed commented on BBS5
Severe early-onset obesity BBS4 Ayesha Ahmed marked BBS4 as ready
Severe early-onset obesity BBS4 Ayesha Ahmed classified BBS4 as green
Severe early-onset obesity BBS4 Ayesha Ahmed classified BBS4 as green
Severe early-onset obesity BBS4 Ayesha Ahmed commented on BBS4
Severe early-onset obesity AKR1C2 Ayesha Ahmed classified AKR1C2 as red
Severe early-onset obesity AKR1C2 Ayesha Ahmed classified AKR1C2 as red
Severe early-onset obesity AKR1C2 Ayesha Ahmed commented on AKR1C2
Severe early-onset obesity AKR1C2 Ayesha Ahmed classified AKR1C2 as red
Severe early-onset obesity BBS2 Ayesha Ahmed marked BBS2 as ready
Severe early-onset obesity BBS2 Ayesha Ahmed classified BBS2 as green
Severe early-onset obesity BBS2 Ayesha Ahmed classified BBS2 as red
Severe early-onset obesity BBS2 Ayesha Ahmed commented on BBS2
Severe early-onset obesity BBS12 Ayesha Ahmed marked BBS12 as ready
Severe early-onset obesity BBS12 Ayesha Ahmed classified BBS12 as green
Severe early-onset obesity BBS12 Ayesha Ahmed commented on BBS12
Insulin resistance (including lipodystrophy) Sarah Leigh promoted panel to version 1
Insulin resistance (including lipodystrophy) AKT2 Sarah Leigh marked AKT2 as ready
Insulin resistance (including lipodystrophy) AKT2 Sarah Leigh classified AKT2 as red
Inherited white matter disorders COX15 Ellen McDonagh classified COX15 as amber
Inherited white matter disorders COX15 Ellen McDonagh classified COX15 as amber
Inherited white matter disorders COX15 Ellen McDonagh commented on COX15
Inherited white matter disorders COX15 Ellen McDonagh classified COX15 as green
Inherited white matter disorders COX10 Ellen McDonagh classified COX10 as green
Inherited white matter disorders COX10 Ellen McDonagh commented on COX10
Inherited white matter disorders COQ9 Ellen McDonagh classified COQ9 as amber
Inherited white matter disorders COQ9 Ellen McDonagh commented on COQ9
Inherited white matter disorders COQ2 Ellen McDonagh marked COQ2 as ready
Inherited white matter disorders COQ2 Ellen McDonagh classified COQ2 as green
Inherited white matter disorders COQ2 Ellen McDonagh commented on COQ2
Inherited white matter disorders C10orf2 Ellen McDonagh marked C10orf2 as ready
Inherited white matter disorders C10orf2 Ellen McDonagh classified C10orf2 as green
Inherited white matter disorders C10orf2 Ellen McDonagh classified C10orf2 as red
Inherited white matter disorders C10orf2 Ellen McDonagh added C10orf2 to panel
Inherited white matter disorders C10orf2 Ellen McDonagh reviewed C10orf2
Inherited white matter disorders BCS1L Ellen McDonagh marked BCS1L as ready
Inherited white matter disorders BCS1L Ellen McDonagh classified BCS1L as green
Inherited white matter disorders BCS1L Ellen McDonagh commented on BCS1L
Inherited white matter disorders ATPAF2 Ellen McDonagh classified ATPAF2 as amber
Inherited white matter disorders ATPAF2 Ellen McDonagh classified ATPAF2 as amber
Inherited white matter disorders ATPAF2 Ellen McDonagh commented on ATPAF2
Inherited white matter disorders ALDH3A2 Ellen McDonagh marked ALDH3A2 as ready
Inherited white matter disorders ALDH3A2 Ellen McDonagh classified ALDH3A2 as green
Inherited white matter disorders ALDH3A2 Ellen McDonagh classified ALDH3A2 as grey
Inherited white matter disorders ALDH3A2 Ellen McDonagh commented on ALDH3A2
Sudden death in young people AARS2 Ellen McDonagh added AARS2 to panel
Sudden death in young people AARS2 Ellen McDonagh reviewed AARS2
Inherited white matter disorders AARS2 Ellen McDonagh classified AARS2 as amber
Inherited white matter disorders AARS2 Ellen McDonagh classified AARS2 as amber
Inherited white matter disorders AARS2 Ellen McDonagh commented on AARS2
Insulin resistance (including lipodystrophy) WRN Sarah Leigh marked WRN as ready
Insulin resistance (including lipodystrophy) WRN Sarah Leigh commented on WRN
Inherited white matter disorders EIF2B5 Ellen McDonagh classified EIF2B5 as green
Inherited white matter disorders EIF2B5 Ellen McDonagh commented on EIF2B5
Insulin resistance (including lipodystrophy) WRN Sarah Leigh classified WRN as green
Insulin resistance (including lipodystrophy) PIK3R1 Sarah Leigh marked PIK3R1 as ready
Inherited white matter disorders EIF2B4 Ellen McDonagh classified EIF2B4 as green
Inherited white matter disorders EIF2B4 Ellen McDonagh commented on EIF2B4
Insulin resistance (including lipodystrophy) PIK3R1 Sarah Leigh classified PIK3R1 as green
Inherited white matter disorders EIF2B3 Ellen McDonagh classified EIF2B3 as green
Inherited white matter disorders EIF2B3 Ellen McDonagh commented on EIF2B3
Inherited white matter disorders EIF2B2 Ellen McDonagh classified EIF2B2 as green
Inherited white matter disorders EIF2B2 Ellen McDonagh commented on EIF2B2
Inherited white matter disorders EIF2B1 Ellen McDonagh classified EIF2B1 as green
Inherited white matter disorders EIF2B1 Ellen McDonagh commented on EIF2B1
Inherited white matter disorders CLCN2 Ellen McDonagh marked CLCN2 as ready
Inherited white matter disorders CLCN2 Ellen McDonagh classified CLCN2 as green
Inherited white matter disorders CLCN2 Ellen McDonagh commented on CLCN2
Inherited white matter disorders CYP27A1 Ellen McDonagh marked CYP27A1 as ready
Inherited white matter disorders CYP27A1 Ellen McDonagh classified CYP27A1 as green
Inherited white matter disorders CYP27A1 Ellen McDonagh commented on CYP27A1
Inherited white matter disorders ASPA Ellen McDonagh marked ASPA as ready
Inherited white matter disorders ASPA Ellen McDonagh classified ASPA as green
Inherited white matter disorders ASPA Ellen McDonagh commented on ASPA
Inherited white matter disorders LMNB1 Ellen McDonagh classified LMNB1 as green
Inherited white matter disorders LMNB1 Ellen McDonagh commented on LMNB1
Inherited white matter disorders GFAP Ellen McDonagh marked GFAP as ready
Inherited white matter disorders GFAP Ellen McDonagh classified GFAP as green
Inherited white matter disorders GFAP Ellen McDonagh commented on GFAP
Inherited white matter disorders SAMHD1 Ellen McDonagh marked SAMHD1 as ready
Inherited white matter disorders SAMHD1 Ellen McDonagh classified SAMHD1 as green
Inherited white matter disorders SAMHD1 Ellen McDonagh commented on SAMHD1
Inherited white matter disorders TREX1 Ellen McDonagh classified TREX1 as green
Inherited white matter disorders TREX1 Ellen McDonagh commented on TREX1
Inherited white matter disorders RNASEH2C Ellen McDonagh marked RNASEH2C as ready
Inherited white matter disorders RNASEH2C Ellen McDonagh commented on RNASEH2C
Inherited white matter disorders RNASEH2C Ellen McDonagh classified RNASEH2C as green
Inherited white matter disorders RNASEH2B Ellen McDonagh marked RNASEH2B as ready
Inherited white matter disorders RNASEH2B Ellen McDonagh commented on RNASEH2B
Inherited white matter disorders RNASEH2B Ellen McDonagh classified RNASEH2B as green
Insulin resistance (including lipodystrophy) PIK3R1 Sarah Leigh commented on PIK3R1
Insulin resistance (including lipodystrophy) POC1A Sarah Leigh marked POC1A as ready
Insulin resistance (including lipodystrophy) POC1A Sarah Leigh classified POC1A as red
Insulin resistance (including lipodystrophy) POC1A Sarah Leigh commented on POC1A
Insulin resistance (including lipodystrophy) POC1A Sarah Leigh classified POC1A as red
Insulin resistance (including lipodystrophy) PCYT1A Sarah Leigh marked PCYT1A as ready
Insulin resistance (including lipodystrophy) PCYT1A Sarah Leigh commented on PCYT1A
Insulin resistance (including lipodystrophy) PCYT1A Sarah Leigh classified PCYT1A as green
Insulin resistance (including lipodystrophy) PCNT Sarah Leigh marked PCNT as ready
Insulin resistance (including lipodystrophy) PCNT Sarah Leigh commented on PCNT
Insulin resistance (including lipodystrophy) PCNT Sarah Leigh classified PCNT as green
Insulin resistance (including lipodystrophy) NSMCE2 Sarah Leigh marked NSMCE2 as ready
Insulin resistance (including lipodystrophy) NSMCE2 Sarah Leigh classified NSMCE2 as red
Insulin resistance (including lipodystrophy) NSMCE2 Sarah Leigh commented on NSMCE2
Insulin resistance (including lipodystrophy) CIDEC Sarah Leigh marked CIDEC as ready
Insulin resistance (including lipodystrophy) CIDEC Sarah Leigh classified CIDEC as red
Insulin resistance (including lipodystrophy) CIDEC Sarah Leigh commented on CIDEC
Insulin resistance (including lipodystrophy) CIDEC Sarah Leigh classified CIDEC as green
Insulin resistance (including lipodystrophy) BLM Sarah Leigh marked BLM as ready
Insulin resistance (including lipodystrophy) BLM Sarah Leigh commented on BLM
Insulin resistance (including lipodystrophy) BLM Sarah Leigh classified BLM as green
Insulin resistance (including lipodystrophy) BLM Sarah Leigh classified BLM as red
Insulin resistance (including lipodystrophy) ALMS1 Sarah Leigh marked ALMS1 as ready
Insulin resistance (including lipodystrophy) ALMS1 Sarah Leigh commented on ALMS1
Insulin resistance (including lipodystrophy) ALMS1 Sarah Leigh classified ALMS1 as green
Insulin resistance (including lipodystrophy) AKT2 Sarah Leigh classified AKT2 as green
Insulin resistance (including lipodystrophy) AKT2 Sarah Leigh commented on AKT2
Insulin resistance (including lipodystrophy) ZMPSTE24 Sarah Leigh marked ZMPSTE24 as ready
Insulin resistance (including lipodystrophy) ZMPSTE24 Sarah Leigh commented on ZMPSTE24
Insulin resistance (including lipodystrophy) ZMPSTE24 Sarah Leigh classified ZMPSTE24 as green
Insulin resistance (including lipodystrophy) PPP1R3A Sarah Leigh marked PPP1R3A as ready
Insulin resistance (including lipodystrophy) PPP1R3A Sarah Leigh commented on PPP1R3A
Insulin resistance (including lipodystrophy) POLD1 Sarah Leigh marked POLD1 as ready
Insulin resistance (including lipodystrophy) POLD1 Sarah Leigh commented on POLD1
Insulin resistance (including lipodystrophy) POLD1 Sarah Leigh classified POLD1 as green
Insulin resistance (including lipodystrophy) PLIN1 Sarah Leigh marked PLIN1 as ready
Insulin resistance (including lipodystrophy) PLIN1 Sarah Leigh commented on PLIN1
Insulin resistance (including lipodystrophy) PLIN1 Sarah Leigh classified PLIN1 as green
Insulin resistance (including lipodystrophy) CAV1 Sarah Leigh marked CAV1 as ready
Insulin resistance (including lipodystrophy) CAV1 Sarah Leigh commented on CAV1
Insulin resistance (including lipodystrophy) AGPS Sarah Leigh marked AGPS as ready
Insulin resistance (including lipodystrophy) AGPS Sarah Leigh commented on AGPS
Insulin resistance (including lipodystrophy) PTRF Sarah Leigh marked PTRF as ready
Insulin resistance (including lipodystrophy) PTRF Sarah Leigh commented on PTRF
Insulin resistance (including lipodystrophy) PTRF Sarah Leigh classified PTRF as green
Insulin resistance (including lipodystrophy) PSMB8 Sarah Leigh marked PSMB8 as ready
Insulin resistance (including lipodystrophy) PSMB8 Sarah Leigh commented on PSMB8
Insulin resistance (including lipodystrophy) PSMB8 Sarah Leigh classified PSMB8 as red
Insulin resistance (including lipodystrophy) FGFR3 Sarah Leigh classified FGFR3 as red
Insulin resistance (including lipodystrophy) FGFR3 Sarah Leigh marked FGFR3 as ready
Insulin resistance (including lipodystrophy) FGFR3 Sarah Leigh commented on FGFR3
Insulin resistance (including lipodystrophy) PPARG Sarah Leigh marked PPARG as ready
Insulin resistance (including lipodystrophy) PPARG Sarah Leigh commented on PPARG
Insulin resistance (including lipodystrophy) LMNA Sarah Leigh marked LMNA as ready
Insulin resistance (including lipodystrophy) LMNA Sarah Leigh commented on LMNA
Insulin resistance (including lipodystrophy) INSR Sarah Leigh marked INSR as ready
Insulin resistance (including lipodystrophy) INSR Sarah Leigh commented on INSR
Insulin resistance (including lipodystrophy) BSCL2 Sarah Leigh marked BSCL2 as ready
Insulin resistance (including lipodystrophy) BSCL2 Sarah Leigh commented on BSCL2
Insulin resistance (including lipodystrophy) AGPAT2 Sarah Leigh marked AGPAT2 as ready
Insulin resistance (including lipodystrophy) AGPAT2 Sarah Leigh commented on AGPAT2
Choanal atresia Sarah Leigh promoted panel to version 1
Choanal atresia SPINT2 Sarah Leigh marked SPINT2 as ready
Choanal atresia SPINT2 Sarah Leigh classified SPINT2 as green
Choanal atresia SPINT2 Sarah Leigh added SPINT2 to panel
Choanal atresia SPINT2 Sarah Leigh reviewed SPINT2
Choanal atresia SEMA3E Sarah Leigh marked SEMA3E as ready
Choanal atresia SEMA3E Sarah Leigh commented on SEMA3E
Choanal atresia FGFR3 Sarah Leigh marked FGFR3 as ready
Choanal atresia FGFR3 Sarah Leigh classified FGFR3 as green
Choanal atresia FGFR3 Sarah Leigh commented on FGFR3
Choanal atresia FGFR3 Sarah Leigh classified FGFR3 as red
Choanal atresia FGFR2 Sarah Leigh marked FGFR2 as ready
Choanal atresia FGFR2 Sarah Leigh commented on FGFR2
Choanal atresia PTPN14 Sarah Leigh commented on PTPN14
Choanal atresia PTPN14 Sarah Leigh marked PTPN14 as ready
Choanal atresia TXNL4A Sarah Leigh marked TXNL4A as ready
Choanal atresia TXNL4A Sarah Leigh commented on TXNL4A
Choanal atresia TXNL4A Sarah Leigh classified TXNL4A as green
Choanal atresia FOXE1 Sarah Leigh marked FOXE1 as ready
Choanal atresia FOXE1 Sarah Leigh commented on FOXE1
Choanal atresia FOXE1 Sarah Leigh classified FOXE1 as green
Choanal atresia FAM20C Sarah Leigh marked FAM20C as ready
Choanal atresia FAM20C Sarah Leigh commented on FAM20C
Choanal atresia FAM20C Sarah Leigh classified FAM20C as green
Ectodermal dysplasia without a known gene mutation Sarah Leigh promoted panel to version 1
Ectodermal dysplasia without a known gene mutation GJB2 Sarah Leigh marked GJB2 as ready
Ectodermal dysplasia without a known gene mutation GJB2 Sarah Leigh classified GJB2 as red
Ectodermal dysplasia without a known gene mutation GJB2 Sarah Leigh commented on GJB2
Choanal atresia EFTUD2 Sarah Leigh marked EFTUD2 as ready
Choanal atresia EFTUD2 Sarah Leigh commented on EFTUD2
Choanal atresia EFTUD2 Sarah Leigh classified EFTUD2 as green
Choanal atresia CHD7 Sarah Leigh marked CHD7 as ready
Choanal atresia CHD7 Sarah Leigh commented on CHD7
Ectodermal dysplasia without a known gene mutation NFKBIA Sarah Leigh marked NFKBIA as ready
Ectodermal dysplasia without a known gene mutation NFKBIA Sarah Leigh commented on NFKBIA
Ectodermal dysplasia without a known gene mutation NFKBIA Sarah Leigh classified NFKBIA as green
Ectodermal dysplasia without a known gene mutation RMRP Sarah Leigh marked RMRP as ready
Ectodermal dysplasia without a known gene mutation RMRP Sarah Leigh commented on RMRP
Ectodermal dysplasia without a known gene mutation RMRP Sarah Leigh classified RMRP as green
Ectodermal dysplasia without a known gene mutation PORCN Sarah Leigh marked PORCN as ready
Ectodermal dysplasia without a known gene mutation PORCN Sarah Leigh commented on PORCN
Ectodermal dysplasia without a known gene mutation PORCN Sarah Leigh classified PORCN as green
Ectodermal dysplasia without a known gene mutation NFKB2 Sarah Leigh marked NFKB2 as ready
Ectodermal dysplasia without a known gene mutation NFKB2 Sarah Leigh commented on NFKB2
Ectodermal dysplasia without a known gene mutation NFKB2 Sarah Leigh classified NFKB2 as green
Ectodermal dysplasia without a known gene mutation KRT14 Sarah Leigh marked KRT14 as ready
Ectodermal dysplasia without a known gene mutation KRT14 Sarah Leigh commented on KRT14
Ectodermal dysplasia without a known gene mutation KRT14 Sarah Leigh classified KRT14 as green
Ectodermal dysplasia without a known gene mutation WNT10A Sarah Leigh marked WNT10A as ready
Ectodermal dysplasia without a known gene mutation WNT10A Sarah Leigh commented on WNT10A
Ectodermal dysplasia without a known gene mutation PVRL4 Sarah Leigh marked PVRL4 as ready
Ectodermal dysplasia without a known gene mutation PVRL4 Sarah Leigh classified PVRL4 as green
Ectodermal dysplasia without a known gene mutation PVRL4 Sarah Leigh commented on PVRL4
Ectodermal dysplasia without a known gene mutation PVRL1 Sarah Leigh marked PVRL1 as ready
Ectodermal dysplasia without a known gene mutation PVRL1 Sarah Leigh commented on PVRL1
Ectodermal dysplasia without a known gene mutation PVRL1 Sarah Leigh classified PVRL1 as green
Ectodermal dysplasia without a known gene mutation MSX1 Sarah Leigh marked MSX1 as ready
Ectodermal dysplasia without a known gene mutation MSX1 Sarah Leigh classified MSX1 as green
Ectodermal dysplasia without a known gene mutation MSX1 Sarah Leigh commented on MSX1
Ectodermal dysplasia without a known gene mutation KRT74 Sarah Leigh marked KRT74 as ready
Ectodermal dysplasia without a known gene mutation KRT74 Sarah Leigh commented on KRT74
Ectodermal dysplasia without a known gene mutation WDR35 Sarah Leigh marked WDR35 as ready
Ectodermal dysplasia without a known gene mutation WDR35 Sarah Leigh commented on WDR35
Intellectual disability BCL11A Cristina Dias reviewed BCL11A
Skeletal dysplasia Sarah Leigh promoted panel to version 1
Skeletal dysplasia IDH1 Sarah Leigh classified IDH1 as green
Inherited white matter disorders RNASEH2A Ellen McDonagh marked RNASEH2A as ready
Inherited white matter disorders RNASEH2A Ellen McDonagh classified RNASEH2A as green
Inherited white matter disorders RNASEH2A Ellen McDonagh commented on RNASEH2A
Inherited white matter disorders ADAR Ellen McDonagh marked ADAR as ready
Inherited white matter disorders ADAR Ellen McDonagh classified ADAR as green
Inherited white matter disorders ADAR Ellen McDonagh commented on ADAR
Inherited white matter disorders CSF1R Ellen McDonagh marked CSF1R as ready
Inherited white matter disorders CSF1R Ellen McDonagh classified CSF1R as green
Inherited white matter disorders CSF1R Ellen McDonagh commented on CSF1R
Unexplained kidney failure in young people WT1 Sarah Leigh marked WT1 as ready
Unexplained kidney failure in young people VPS33B Sarah Leigh marked VPS33B as ready
Unexplained kidney failure in young people VPS33B Sarah Leigh commented on VPS33B
Unexplained kidney failure in young people VHL Sarah Leigh marked VHL as ready
Unexplained kidney failure in young people VHL Sarah Leigh commented on VHL
Unexplained kidney failure in young people UMOD Sarah Leigh marked UMOD as ready
Unexplained kidney failure in young people UMOD Sarah Leigh commented on UMOD
Unexplained kidney failure in young people TTC21B Sarah Leigh marked TTC21B as ready
Unexplained kidney failure in young people TTC21B Sarah Leigh commented on TTC21B
Unexplained kidney failure in young people TSC2 Sarah Leigh marked TSC2 as ready
Unexplained kidney failure in young people TSC2 Sarah Leigh commented on TSC2
Unexplained kidney failure in young people TSC1 Sarah Leigh marked TSC1 as ready
Unexplained kidney failure in young people TSC1 Sarah Leigh commented on TSC1
Unexplained kidney failure in young people TRPC6 Sarah Leigh marked TRPC6 as ready
Unexplained kidney failure in young people TRAP1 Sarah Leigh marked TRAP1 as ready
Unexplained kidney failure in young people TRAP1 Sarah Leigh commented on TRAP1
Unexplained kidney failure in young people TMEM67 Sarah Leigh marked TMEM67 as ready
Unexplained kidney failure in young people TMEM67 Sarah Leigh commented on TMEM67
Unexplained kidney failure in young people TBX18 Sarah Leigh marked TBX18 as ready
Unexplained kidney failure in young people TBX18 Sarah Leigh commented on TBX18
Unexplained kidney failure in young people SMARCAL1 Sarah Leigh marked SMARCAL1 as ready
Unexplained kidney failure in young people SIX5 Sarah Leigh marked SIX5 as ready
Unexplained kidney failure in young people SIX5 Sarah Leigh commented on SIX5
Unexplained kidney failure in young people SCARB2 Sarah Leigh marked SCARB2 as ready
Unexplained kidney failure in young people SALL1 Sarah Leigh marked SALL1 as ready
Unexplained kidney failure in young people SALL1 Sarah Leigh commented on SALL1
Unexplained kidney failure in young people RRM2B Sarah Leigh marked RRM2B as ready
Unexplained kidney failure in young people RRM2B Sarah Leigh commented on RRM2B
Unexplained kidney failure in young people RPGRIP1L Sarah Leigh marked RPGRIP1L as ready
Unexplained kidney failure in young people RET Sarah Leigh classified RET as red
Unexplained kidney failure in young people RET Sarah Leigh commented on RET
Inherited white matter disorders ABCD1 Ellen McDonagh classified ABCD1 as green
Inherited white matter disorders ABCD1 Ellen McDonagh commented on ABCD1
Inherited white matter disorders SOX10 Ellen McDonagh marked SOX10 as ready
Inherited white matter disorders SOX10 Ellen McDonagh classified SOX10 as green
Inherited white matter disorders SOX10 Ellen McDonagh commented on SOX10
Unexplained kidney failure in young people REN Sarah Leigh marked REN as ready
Unexplained kidney failure in young people REN Sarah Leigh commented on REN
Inherited white matter disorders GJC2 Ellen McDonagh classified GJC2 as green
Inherited white matter disorders GJC2 Ellen McDonagh commented on GJC2
Inherited white matter disorders PLP1 Ellen McDonagh classified PLP1 as green
Inherited white matter disorders FAM126A Ellen McDonagh classified FAM126A as green
Inherited white matter disorders FAM126A Ellen McDonagh commented on FAM126A
Inherited white matter disorders TUBB4A Ellen McDonagh classified TUBB4A as green
Inherited white matter disorders TUBB4A Ellen McDonagh commented on TUBB4A
Inherited white matter disorders POLR3B Ellen McDonagh marked POLR3B as ready
Inherited white matter disorders POLR3B Ellen McDonagh classified POLR3B as green
Inherited white matter disorders POLR3B Ellen McDonagh commented on POLR3B
Unexplained kidney failure in young people PLCE1 Sarah Leigh marked PLCE1 as ready
Unexplained kidney failure in young people PKHD1 Sarah Leigh marked PKHD1 as ready
Unexplained kidney failure in young people PKHD1 Sarah Leigh commented on PKHD1
Inherited white matter disorders POLR3A Ellen McDonagh marked POLR3A as ready
Inherited white matter disorders POLR3A Ellen McDonagh classified POLR3A as green
Inherited white matter disorders POLR3A Ellen McDonagh classified POLR3A as green
Inherited white matter disorders POLR3A Ellen McDonagh commented on POLR3A
Unexplained kidney failure in young people PKD1 Sarah Leigh classified PKD1 as green
Unexplained kidney failure in young people PKD2 Sarah Leigh marked PKD2 as ready
Unexplained kidney failure in young people PKD2 Sarah Leigh commented on PKD2
Unexplained kidney failure in young people PKD1 Sarah Leigh marked PKD1 as ready
Unexplained kidney failure in young people PKD1 Sarah Leigh commented on PKD1
Unexplained kidney failure in young people PAX2 Sarah Leigh marked PAX2 as ready
Unexplained kidney failure in young people PAX2 Sarah Leigh commented on PAX2
Unexplained kidney failure in young people OFD1 Sarah Leigh classified OFD1 as green
Unexplained kidney failure in young people NUP93 Sarah Leigh marked NUP93 as ready
Unexplained kidney failure in young people NUP107 Sarah Leigh marked NUP107 as ready
Unexplained kidney failure in young people NUP107 Sarah Leigh classified NUP107 as green
Unexplained kidney failure in young people NUP107 Sarah Leigh added NUP107 to panel
Unexplained kidney failure in young people NUP107 Sarah Leigh reviewed NUP107
Unexplained kidney failure in young people NPHS2 Sarah Leigh marked NPHS2 as ready
Unexplained kidney failure in young people NPHS1 Sarah Leigh marked NPHS1 as ready
Unexplained kidney failure in young people NPHP4 Sarah Leigh marked NPHP4 as ready
Unexplained kidney failure in young people NPHP4 Sarah Leigh commented on NPHP4
Unexplained kidney failure in young people NPHP3 Sarah Leigh marked NPHP3 as ready
Unexplained kidney failure in young people NPHP3 Sarah Leigh commented on NPHP3
Unexplained kidney failure in young people NPHP1 Sarah Leigh marked NPHP1 as ready
Unexplained kidney failure in young people NPHP1 Sarah Leigh commented on NPHP1
Unexplained kidney failure in young people MYO1E Sarah Leigh marked MYO1E as ready
Unexplained kidney failure in young people MYH9 Sarah Leigh marked MYH9 as ready
Unexplained kidney failure in young people MYH9 Sarah Leigh commented on MYH9
Unexplained kidney failure in young people MUC1 Sarah Leigh marked MUC1 as ready
Rare multisystem ciliopathy disorders TTC8 Ellen McDonagh marked TTC8 as ready
Rare multisystem ciliopathy disorders TTC8 Ellen McDonagh classified TTC8 as green
Rare multisystem ciliopathy disorders TTC8 Ellen McDonagh commented on TTC8
Rare multisystem ciliopathy disorders SDCCAG8 Ellen McDonagh marked SDCCAG8 as ready
Rare multisystem ciliopathy disorders SDCCAG8 Ellen McDonagh classified SDCCAG8 as green
Rare multisystem ciliopathy disorders SDCCAG8 Ellen McDonagh commented on SDCCAG8
Rare multisystem ciliopathy disorders MKS1 Ellen McDonagh marked MKS1 as ready
Rare multisystem ciliopathy disorders MKS1 Ellen McDonagh classified MKS1 as green
Rare multisystem ciliopathy disorders MKS1 Ellen McDonagh commented on MKS1
Rare multisystem ciliopathy disorders MKKS Ellen McDonagh marked MKKS as ready
Rare multisystem ciliopathy disorders MKKS Ellen McDonagh classified MKKS as green
Rare multisystem ciliopathy disorders MKKS Ellen McDonagh commented on MKKS
Rare multisystem ciliopathy disorders BBS9 Ellen McDonagh marked BBS9 as ready
Rare multisystem ciliopathy disorders BBS9 Ellen McDonagh classified BBS9 as green
Rare multisystem ciliopathy disorders BBS9 Ellen McDonagh commented on BBS9
Rare multisystem ciliopathy disorders BBS7 Ellen McDonagh marked BBS7 as ready
Rare multisystem ciliopathy disorders BBS7 Ellen McDonagh classified BBS7 as green
Rare multisystem ciliopathy disorders BBS7 Ellen McDonagh commented on BBS7
Rare multisystem ciliopathy disorders BBS5 Ellen McDonagh marked BBS5 as ready
Rare multisystem ciliopathy disorders BBS5 Ellen McDonagh classified BBS5 as green
Rare multisystem ciliopathy disorders BBS5 Ellen McDonagh commented on BBS5
Rare multisystem ciliopathy disorders BBS4 Ellen McDonagh marked BBS4 as ready
Rare multisystem ciliopathy disorders BBS4 Ellen McDonagh commented on BBS4
Rare multisystem ciliopathy disorders BBS4 Ellen McDonagh classified BBS4 as green
Rare multisystem ciliopathy disorders BBS2 Ellen McDonagh marked BBS2 as ready
Rare multisystem ciliopathy disorders BBS2 Ellen McDonagh classified BBS2 as green
Rare multisystem ciliopathy disorders BBS2 Ellen McDonagh commented on BBS2
Rare multisystem ciliopathy disorders BBS12 Ellen McDonagh marked BBS12 as ready
Rare multisystem ciliopathy disorders BBS12 Ellen McDonagh classified BBS12 as green
Rare multisystem ciliopathy disorders BBS12 Ellen McDonagh commented on BBS12
Rare multisystem ciliopathy disorders BBS10 Ellen McDonagh marked BBS10 as ready
Rare multisystem ciliopathy disorders BBS10 Ellen McDonagh classified BBS10 as green
Rare multisystem ciliopathy disorders BBS1 Ellen McDonagh marked BBS1 as ready
Rare multisystem ciliopathy disorders BBS1 Ellen McDonagh classified BBS1 as green
Rare multisystem ciliopathy disorders BBS1 Ellen McDonagh commented on BBS1
Rare multisystem ciliopathy disorders ALMS1 Ellen McDonagh marked ALMS1 as ready
Rare multisystem ciliopathy disorders ARL6 Ellen McDonagh marked ARL6 as ready
Rare multisystem ciliopathy disorders ARL6 Ellen McDonagh classified ARL6 as green
Rare multisystem ciliopathy disorders ARL6 Ellen McDonagh commented on ARL6
Rare multisystem ciliopathy disorders ALMS1 Ellen McDonagh classified ALMS1 as green
Rare multisystem ciliopathy disorders ALMS1 Ellen McDonagh commented on ALMS1
Inherited white matter disorders TYMP Ian Berry edited their review of TYMP
Inherited white matter disorders TYMP Ian Berry reviewed TYMP
Inherited white matter disorders TUFM Ian Berry edited their review of TUFM
Inherited white matter disorders TUFM Ian Berry reviewed TUFM
Inherited white matter disorders TUBB4A Ian Berry edited their review of TUBB4A
Inherited white matter disorders TUBB4A Ian Berry reviewed TUBB4A
Inherited white matter disorders TREX1 Ian Berry edited their review of TREX1
Inherited white matter disorders TREX1 Ian Berry reviewed TREX1
Inherited white matter disorders TACO1 Ian Berry edited their review of TACO1
Inherited white matter disorders TACO1 Ian Berry reviewed TACO1
Inherited white matter disorders SURF1 Ian Berry edited their review of SURF1
Inherited white matter disorders SURF1 Ian Berry reviewed SURF1
Inherited white matter disorders SUMF1 Ian Berry reviewed SUMF1
Inherited white matter disorders SUCLA2 Ian Berry edited their review of SUCLA2
Inherited white matter disorders SUCLA2 Ian Berry reviewed SUCLA2
Inherited white matter disorders SOX10 Ian Berry reviewed SOX10
Inherited white matter disorders SLC25A4 Ian Berry edited their review of SLC25A4
Inherited white matter disorders SLC25A4 Ian Berry reviewed SLC25A4
Inherited white matter disorders SLC25A12 Ian Berry edited their review of SLC25A12
Inherited white matter disorders SLC25A12 Ian Berry reviewed SLC25A12
Inherited white matter disorders SLC17A5 Ian Berry reviewed SLC17A5
Inherited white matter disorders SLC16A2 Ian Berry edited their review of SLC16A2
Inherited white matter disorders SLC16A2 Ian Berry reviewed SLC16A2
Inherited white matter disorders SDHB Ian Berry edited their review of SDHB
Inherited white matter disorders SDHB Ian Berry reviewed SDHB
Inherited white matter disorders SDHAF1 Ian Berry edited their review of SDHAF1
Inherited white matter disorders SDHAF1 Ian Berry reviewed SDHAF1
Inherited white matter disorders SCP2 Ian Berry edited their review of SCP2
Inherited white matter disorders SCP2 Ian Berry reviewed SCP2
Inherited white matter disorders SCO2 Ian Berry edited their review of SCO2
Inherited white matter disorders SCO2 Ian Berry reviewed SCO2
Inherited white matter disorders SCO1 Ian Berry edited their review of SCO1
Inherited white matter disorders SCO1 Ian Berry reviewed SCO1
Inherited white matter disorders SAMHD1 Ian Berry edited their review of SAMHD1
Inherited white matter disorders SAMHD1 Ian Berry reviewed SAMHD1
Inherited white matter disorders RRM2B Ian Berry edited their review of RRM2B
Inherited white matter disorders RRM2B Ian Berry reviewed RRM2B
Inherited white matter disorders RNASET2 Ian Berry reviewed RNASET2
Inherited white matter disorders RNASEH2C Ian Berry edited their review of RNASEH2C
Inherited white matter disorders RNASEH2C Ian Berry reviewed RNASEH2C
Inherited white matter disorders RNASEH2B Ian Berry edited their review of RNASEH2B
Inherited white matter disorders RNASEH2B Ian Berry reviewed RNASEH2B
Inherited white matter disorders RNASEH2A Ian Berry edited their review of RNASEH2A
Inherited white matter disorders RNASEH2A Ian Berry reviewed RNASEH2A
Inherited white matter disorders RARS Ian Berry edited their review of RARS
Inherited white matter disorders RARS Ian Berry reviewed RARS
Inherited white matter disorders PSAP Ian Berry reviewed PSAP
Inherited white matter disorders POLR3B Ian Berry edited their review of POLR3B
Inherited white matter disorders POLR3B Ian Berry reviewed POLR3B
Inherited white matter disorders POLR3A Ian Berry edited their review of POLR3A
Inherited white matter disorders POLR3A Ian Berry reviewed POLR3A
Inherited white matter disorders POLR1C Ian Berry edited their review of POLR1C
Inherited white matter disorders POLR1C Ian Berry reviewed POLR1C
Inherited white matter disorders POLG2 Ian Berry edited their review of POLG2
Inherited white matter disorders POLG2 Ian Berry reviewed POLG2
Inherited white matter disorders POLG Ian Berry edited their review of POLG
Inherited white matter disorders POLG Ian Berry reviewed POLG
Inherited white matter disorders PLP1 Ian Berry edited their review of PLP1
Inherited white matter disorders PLP1 Ian Berry reviewed PLP1
Inherited white matter disorders PEX6 Ian Berry edited their review of PEX6
Inherited white matter disorders PEX6 Ian Berry reviewed PEX6
Inherited white matter disorders PEX5 Ian Berry edited their review of PEX5
Inherited white matter disorders PEX5 Ian Berry reviewed PEX5
Inherited white matter disorders PEX3 Ian Berry edited their review of PEX3
Inherited white matter disorders PEX3 Ian Berry reviewed PEX3
Inherited white matter disorders PEX26 Ian Berry edited their review of PEX26
Inherited white matter disorders PEX26 Ian Berry reviewed PEX26
Inherited white matter disorders PEX2 Ian Berry edited their review of PEX2
Inherited white matter disorders PEX2 Ian Berry reviewed PEX2
Inherited white matter disorders PEX19 Ian Berry reviewed PEX19
Inherited white matter disorders PEX16 Ian Berry edited their review of PEX16
Inherited white matter disorders PEX16 Ian Berry reviewed PEX16
Inherited white matter disorders PEX14 Ian Berry reviewed PEX14
Inherited white matter disorders PEX13 Ian Berry edited their review of PEX13
Inherited white matter disorders PEX13 Ian Berry reviewed PEX13
Inherited white matter disorders PEX12 Ian Berry edited their review of PEX12
Inherited white matter disorders PEX12 Ian Berry reviewed PEX12
Inherited white matter disorders PEX10 Ian Berry edited their review of PEX10
Inherited white matter disorders PEX10 Ian Berry reviewed PEX10
Inherited white matter disorders PEX1 Ian Berry edited their review of PEX1
Inherited white matter disorders PEX1 Ian Berry reviewed PEX1
Inherited white matter disorders NUBPL Ian Berry edited their review of NUBPL
Inherited white matter disorders NUBPL Ian Berry reviewed NUBPL
Inherited white matter disorders NDUFV1 Ian Berry edited their review of NDUFV1
Inherited white matter disorders NDUFV1 Ian Berry reviewed NDUFV1
Inherited white matter disorders NDUFS8 Ian Berry edited their review of NDUFS8
Inherited white matter disorders NDUFS8 Ian Berry reviewed NDUFS8
Inherited white matter disorders NDUFS7 Ian Berry edited their review of NDUFS7
Inherited white matter disorders NDUFS7 Ian Berry reviewed NDUFS7
Inherited white matter disorders NDUFS4 Ian Berry edited their review of NDUFS4
Inherited white matter disorders NDUFS4 Ian Berry reviewed NDUFS4
Inherited white matter disorders NDUFS2 Ian Berry edited their review of NDUFS2
Inherited white matter disorders NDUFS2 Ian Berry reviewed NDUFS2
Inherited white matter disorders NDUFS1 Ian Berry edited their review of NDUFS1
Inherited white matter disorders NDUFS1 Ian Berry reviewed NDUFS1
Inherited white matter disorders NDUFAF1 Ian Berry edited their review of NDUFAF1
Inherited white matter disorders NDUFAF1 Ian Berry reviewed NDUFAF1
Inherited white matter disorders MRPS16 Ian Berry edited their review of MRPS16
Inherited white matter disorders MRPS16 Ian Berry reviewed MRPS16
Inherited white matter disorders MLC1 Ian Berry reviewed MLC1
Inherited white matter disorders LMNB1 Ian Berry reviewed LMNB1
Inherited white matter disorders IFIH1 Ian Berry edited their review of IFIH1
Inherited white matter disorders IFIH1 Ian Berry reviewed IFIH1
Inherited white matter disorders HSD17B4 Ian Berry edited their review of HSD17B4
Inherited white matter disorders HSD17B4 Ian Berry reviewed HSD17B4
Inherited white matter disorders HEPACAM Ian Berry reviewed HEPACAM
Inherited white matter disorders GJC2 Ian Berry edited their review of GJC2
Inherited white matter disorders GJC2 Ian Berry reviewed GJC2
Inherited white matter disorders GFM1 Ian Berry edited their review of GFM1
Inherited white matter disorders GFM1 Ian Berry reviewed GFM1
Inherited white matter disorders GFAP Ian Berry reviewed GFAP
Inherited white matter disorders GBE1 Ian Berry reviewed GBE1
Inherited white matter disorders GALC Ian Berry reviewed GALC
Inherited white matter disorders FUCA1 Ian Berry reviewed FUCA1
Inherited white matter disorders FAM126A Ian Berry edited their review of FAM126A
Inherited white matter disorders FAM126A Ian Berry reviewed FAM126A
Inherited white matter disorders ETFDH Ian Berry edited their review of ETFDH
Inherited white matter disorders ETFDH Ian Berry reviewed ETFDH
Inherited white matter disorders ERCC8 Ian Berry edited their review of ERCC8
Inherited white matter disorders ERCC8 Ian Berry reviewed ERCC8
Inherited white matter disorders ERCC6 Ian Berry edited their review of ERCC6
Inherited white matter disorders ERCC6 Ian Berry reviewed ERCC6
Inherited white matter disorders EIF2B5 Ian Berry edited their review of EIF2B5
Inherited white matter disorders EIF2B5 Ian Berry reviewed EIF2B5
Inherited white matter disorders EIF2B4 Ian Berry edited their review of EIF2B4
Inherited white matter disorders EIF2B4 Ian Berry reviewed EIF2B4
Inherited white matter disorders EIF2B3 Ian Berry edited their review of EIF2B3
Inherited white matter disorders EIF2B3 Ian Berry reviewed EIF2B3
Inherited white matter disorders EIF2B2 Ian Berry edited their review of EIF2B2
Inherited white matter disorders EIF2B2 Ian Berry reviewed EIF2B2
Inherited white matter disorders EIF2B1 Ian Berry edited their review of EIF2B1
Inherited white matter disorders EIF2B1 Ian Berry reviewed EIF2B1
Inherited white matter disorders EARS2 Ian Berry reviewed EARS2
Inherited white matter disorders DGUOK Ian Berry edited their review of DGUOK
Inherited white matter disorders DGUOK Ian Berry reviewed DGUOK
Inherited white matter disorders DARS2 Ian Berry reviewed DARS2
Inherited white matter disorders DARS Ian Berry edited their review of DARS
Inherited white matter disorders DARS Ian Berry reviewed DARS
Inherited white matter disorders CYP27A1 Ian Berry reviewed CYP27A1
Inherited white matter disorders CSF1R Ian Berry reviewed CSF1R
Inherited white matter disorders COX15 Ian Berry edited their review of COX15
Inherited white matter disorders COX15 Ian Berry reviewed COX15
Inherited white matter disorders COX10 Ian Berry edited their review of COX10
Inherited white matter disorders COX10 Ian Berry reviewed COX10
Inherited white matter disorders COQ9 Ian Berry edited their review of COQ9
Inherited white matter disorders COQ9 Ian Berry reviewed COQ9
Inherited white matter disorders COQ2 Ian Berry edited their review of COQ2
Inherited white matter disorders COQ2 Ian Berry reviewed COQ2
Inherited white matter disorders CLCN2 Ian Berry reviewed CLCN2
Inherited white matter disorders C10ORF2 Ian Berry edited their review of C10ORF2*
Inherited white matter disorders C10ORF2 Ian Berry reviewed C10ORF2*
Inherited white matter disorders BCS1L Ian Berry edited their review of BCS1L
Inherited white matter disorders BCS1L Ian Berry reviewed BCS1L
Inherited white matter disorders ATPAF2 Ian Berry edited their review of ATPAF2
Inherited white matter disorders ATPAF2 Ian Berry reviewed ATPAF2
Inherited white matter disorders ASPA Ian Berry reviewed ASPA
Inherited white matter disorders ARSA Ian Berry reviewed ARSA
Inherited white matter disorders ALDH3A2 Ian Berry reviewed ALDH3A2
Inherited white matter disorders AIMP1 Ian Berry edited their review of AIMP1
Inherited white matter disorders AIMP1 Ian Berry reviewed AIMP1
Inherited white matter disorders COQ8A Ian Berry edited their review of COQ8A*
Inherited white matter disorders COQ8A Ian Berry reviewed COQ8A*
Inherited white matter disorders ADAR Ian Berry edited their review of ADAR
Inherited white matter disorders ADAR Ian Berry reviewed ADAR
Inherited white matter disorders ACOX1 Ian Berry edited their review of ACOX1
Inherited white matter disorders ACOX1 Ian Berry reviewed ACOX1
Inherited white matter disorders ABCD1 Ian Berry edited their review of ABCD1
Inherited white matter disorders ABCD1 Ian Berry edited their review of ABCD1
Inherited white matter disorders ABCD1 Ian Berry reviewed ABCD1
Inherited white matter disorders AARS2 Ian Berry reviewed AARS2
Unexplained kidney failure in young people LRIG2 Sarah Leigh marked LRIG2 as ready
Unexplained kidney failure in young people LRIG2 Sarah Leigh commented on LRIG2
Unexplained kidney failure in young people LMX1B Sarah Leigh marked LMX1B as ready
Unexplained kidney failure in young people LAMB2 Sarah Leigh marked LAMB2 as ready
Unexplained kidney failure in young people KAL1 Sarah Leigh marked KAL1 as ready
Unexplained kidney failure in young people KAL1 Sarah Leigh commented on KAL1
Unexplained kidney failure in young people ITGA8 Sarah Leigh marked ITGA8 as ready
Unexplained kidney failure in young people ITGA8 Sarah Leigh commented on ITGA8
Unexplained kidney failure in young people ITGA3 Sarah Leigh marked ITGA3 as ready
Unexplained kidney failure in young people INVS Sarah Leigh marked INVS as ready
Unexplained kidney failure in young people INVS Sarah Leigh commented on INVS
Unexplained kidney failure in young people INF2 Sarah Leigh marked INF2 as ready
Unexplained kidney failure in young people HPSE2 Sarah Leigh marked HPSE2 as ready
Unexplained kidney failure in young people HPSE2 Sarah Leigh commented on HPSE2
Unexplained kidney failure in young people HNF1B Sarah Leigh marked HNF1B as ready
Unexplained kidney failure in young people HNF1B Sarah Leigh commented on HNF1B
Unexplained kidney failure in young people GRIP1 Sarah Leigh marked GRIP1 as ready
Unexplained kidney failure in young people GRIP1 Sarah Leigh commented on GRIP1
Unexplained kidney failure in young people GLI3 Sarah Leigh marked GLI3 as ready
Unexplained kidney failure in young people GLI3 Sarah Leigh commented on GLI3
Unexplained kidney failure in young people GATA3 Sarah Leigh marked GATA3 as ready
Unexplained kidney failure in young people GATA3 Sarah Leigh commented on GATA3
Unexplained kidney failure in young people FREM2 Sarah Leigh marked FREM2 as ready
Unexplained kidney failure in young people FREM2 Sarah Leigh commented on FREM2
Unexplained kidney failure in young people FREM1 Sarah Leigh marked FREM1 as ready
Unexplained kidney failure in young people FREM1 Sarah Leigh commented on FREM1
Unexplained kidney failure in young people FRAS1 Sarah Leigh commented on FRAS1
Unexplained kidney failure in young people FRAS1 Sarah Leigh marked FRAS1 as ready
Unexplained kidney failure in young people EYA1 Sarah Leigh marked EYA1 as ready
Unexplained kidney failure in young people EYA1 Sarah Leigh commented on EYA1
Unexplained kidney failure in young people DSTYK Sarah Leigh marked DSTYK as ready
Unexplained kidney failure in young people DSTYK Sarah Leigh commented on DSTYK
Unexplained kidney failure in young people DSTYK Sarah Leigh classified DSTYK as green
Unexplained kidney failure in young people DGKE Sarah Leigh marked DGKE as ready
Unexplained kidney failure in young people CUBN Sarah Leigh marked CUBN as ready
Unexplained kidney failure in young people CUBN Sarah Leigh commented on CUBN
Unexplained kidney failure in young people COQ6 Sarah Leigh marked COQ6 as ready
Unexplained kidney failure in young people COQ2 Sarah Leigh marked COQ2 as ready
Unexplained kidney failure in young people COL4A5 Sarah Leigh marked COL4A5 as ready
Unexplained kidney failure in young people COL4A5 Sarah Leigh commented on COL4A5
Unexplained kidney failure in young people COL4A4 Sarah Leigh marked COL4A4 as ready
Unexplained kidney failure in young people COL4A4 Sarah Leigh commented on COL4A4
Unexplained kidney failure in young people COL4A3 Sarah Leigh marked COL4A3 as ready
Unexplained kidney failure in young people COL4A3 Sarah Leigh commented on COL4A3
Unexplained kidney failure in young people CLCN5 Sarah Leigh marked CLCN5 as ready
Unexplained kidney failure in young people CHD7 Sarah Leigh marked CHD7 as ready
Unexplained kidney failure in young people CHD7 Sarah Leigh commented on CHD7
Unexplained kidney failure in young people CFI Sarah Leigh marked CFI as ready
Unexplained kidney failure in young people CFH Sarah Leigh marked CFH as ready
Unexplained kidney failure in young people CFB Sarah Leigh marked CFB as ready
Unexplained kidney failure in young people CEP164 Sarah Leigh commented on CEP164
Unexplained kidney failure in young people CEP164 Sarah Leigh marked CEP164 as ready
Unexplained kidney failure in young people CD46 Sarah Leigh marked CD46 as ready
Unexplained kidney failure in young people C3 Sarah Leigh marked C3 as ready
Unexplained kidney failure in young people C3 Sarah Leigh classified C3 as green
Unexplained kidney failure in young people ARHGDIA Sarah Leigh marked ARHGDIA as ready
Unexplained kidney failure in young people ANKS6 Sarah Leigh marked ANKS6 as ready
Unexplained kidney failure in young people ANKS6 Sarah Leigh commented on ANKS6
Unexplained kidney failure in young people AMN Sarah Leigh marked AMN as ready
Unexplained kidney failure in young people AMN Sarah Leigh commented on AMN
Unexplained kidney failure in young people AMN Sarah Leigh classified AMN as green
Unexplained kidney failure in young people AGTR1 Sarah Leigh marked AGTR1 as ready
Unexplained kidney failure in young people AGTR1 Sarah Leigh commented on AGTR1
Unexplained kidney failure in young people AGTR1 Sarah Leigh classified AGTR1 as green
Unexplained kidney failure in young people AGT Sarah Leigh marked AGT as ready
Unexplained kidney failure in young people AGT Sarah Leigh commented on AGT
Unexplained kidney failure in young people ACTN4 Sarah Leigh marked ACTN4 as ready
Unexplained kidney failure in young people ACTN4 Sarah Leigh commented on ACTN4
Unexplained kidney failure in young people ACTG2 Sarah Leigh marked ACTG2 as ready
Unexplained kidney failure in young people ACTG2 Sarah Leigh commented on ACTG2
Unexplained kidney failure in young people ACE Sarah Leigh marked ACE as ready
Unexplained kidney failure in young people ACE Sarah Leigh commented on ACE
Extreme early-onset hypertension Sarah Leigh promoted panel to version 1
Extreme early-onset hypertension NR3C2 Sarah Leigh classified NR3C2 as green
Extreme early-onset hypertension CYP11B2 Sarah Leigh classified CYP11B2 as green
Extreme early-onset hypertension CPS1 Sarah Leigh marked CPS1 as ready
Extreme early-onset hypertension CPS1 Sarah Leigh commented on CPS1
Extreme early-onset hypertension SMAD9 Sarah Leigh marked SMAD9 as ready
Extreme early-onset hypertension SMAD9 Sarah Leigh commented on SMAD9
Extreme early-onset hypertension PNMT Sarah Leigh marked PNMT as ready
Extreme early-onset hypertension PNMT Sarah Leigh commented on PNMT
Extreme early-onset hypertension KCNK3 Sarah Leigh marked KCNK3 as ready
Extreme early-onset hypertension KCNK3 Sarah Leigh commented on KCNK3
Extreme early-onset hypertension CYP21A2 Sarah Leigh marked CYP21A2 as ready
Extreme early-onset hypertension CAV1 Sarah Leigh marked CAV1 as ready
Extreme early-onset hypertension CAV1 Sarah Leigh commented on CAV1
Extreme early-onset hypertension AGT Sarah Leigh marked AGT as ready
Extreme early-onset hypertension AGT Sarah Leigh classified AGT as green
Extreme early-onset hypertension AGT Sarah Leigh commented on AGT
Skeletal dysplasia SNX10 Sarah Leigh classified SNX10 as green
Skeletal dysplasia PEX5 Sarah Leigh classified PEX5 as green
Skeletal dysplasia CREBBP Sarah Leigh marked CREBBP as ready
Skeletal dysplasia CREBBP Sarah Leigh commented on CREBBP
Skeletal dysplasia CREBBP Sarah Leigh classified CREBBP as green
Skeletal dysplasia ALG9 Sarah Leigh classified ALG9 as green
Skeletal dysplasia COL9A1 Sarah Leigh classified COL9A1 as green
Skeletal dysplasia ACAN Sarah Leigh classified ACAN as green
Skeletal dysplasia SHFM1 Sarah Leigh classified SHFM1 as grey
Skeletal dysplasia USP9X Ana Beleza reviewed USP9X
Skeletal dysplasia LOXL3 Sarah Leigh marked LOXL3 as ready
Skeletal dysplasia LOXL3 Sarah Leigh commented on LOXL3
Skeletal dysplasia DOLPP1 Sarah Leigh marked DOLPP1 as ready
Skeletal dysplasia DOLPP1 Sarah Leigh commented on DOLPP1
Skeletal dysplasia RAB33B Sarah Leigh classified RAB33B as red
Skeletal dysplasia RAB33B Sarah Leigh classified RAB33B as red
Skeletal dysplasia ZBTB16 Sarah Leigh marked ZBTB16 as ready
Skeletal dysplasia ZBTB16 Sarah Leigh commented on ZBTB16
Skeletal dysplasia XYLT2 Sarah Leigh marked XYLT2 as ready
Skeletal dysplasia XYLT2 Sarah Leigh commented on XYLT2
Skeletal dysplasia XYLT2 Sarah Leigh classified XYLT2 as green
Skeletal dysplasia XRCC4 Sarah Leigh commented on XRCC4
Skeletal dysplasia XRCC4 Sarah Leigh marked XRCC4 as ready
Skeletal dysplasia XRCC4 Sarah Leigh classified XRCC4 as green
Skeletal dysplasia WNT10B Sarah Leigh marked WNT10B as ready
Skeletal dysplasia WNT10B Sarah Leigh commented on WNT10B
Skeletal dysplasia WNT10B Sarah Leigh classified WNT10B as green
Skeletal dysplasia TWIST1 Sarah Leigh marked TWIST1 as ready
Skeletal dysplasia TWIST1 Sarah Leigh commented on TWIST1
Skeletal dysplasia TWIST1 Sarah Leigh classified TWIST1 as green
Skeletal dysplasia TMEM231 Sarah Leigh marked TMEM231 as ready
Skeletal dysplasia TMEM231 Sarah Leigh commented on TMEM231
Skeletal dysplasia TMEM165 Sarah Leigh marked TMEM165 as ready
Skeletal dysplasia TMEM165 Sarah Leigh commented on TMEM165
Skeletal dysplasia TGFBR2 Sarah Leigh marked TGFBR2 as ready
Skeletal dysplasia TGFBR2 Sarah Leigh commented on TGFBR2
Skeletal dysplasia TGFBR1 Sarah Leigh marked TGFBR1 as ready
Skeletal dysplasia TGFBR1 Sarah Leigh commented on TGFBR1
Skeletal dysplasia TGFB2 Sarah Leigh marked TGFB2 as ready
Skeletal dysplasia TGFB2 Sarah Leigh commented on TGFB2
Skeletal dysplasia TERT Sarah Leigh marked TERT as ready
Skeletal dysplasia TERT Sarah Leigh classified TERT as green
Skeletal dysplasia TERT Sarah Leigh classified TERT as green
Skeletal dysplasia TERT Sarah Leigh commented on TERT
Skeletal dysplasia TCTN2 Sarah Leigh marked TCTN2 as ready
Skeletal dysplasia TCTN2 Sarah Leigh commented on TCTN2
Skeletal dysplasia TCOF1 Sarah Leigh commented on TCOF1
Skeletal dysplasia TCOF1 Sarah Leigh marked TCOF1 as ready
Skeletal dysplasia TBX4 Sarah Leigh marked TBX4 as ready
Skeletal dysplasia TBX4 Sarah Leigh commented on TBX4
Skeletal dysplasia TBX4 Sarah Leigh classified TBX4 as green
Skeletal dysplasia TALDO1 Sarah Leigh marked TALDO1 as ready
Skeletal dysplasia TALDO1 Sarah Leigh commented on TALDO1
Skeletal dysplasia TALDO1 Sarah Leigh classified TALDO1 as green
Skeletal dysplasia SUMF1 Sarah Leigh marked SUMF1 as ready
Skeletal dysplasia SUMF1 Sarah Leigh commented on SUMF1
Skeletal dysplasia SPECC1L Sarah Leigh marked SPECC1L as ready
Skeletal dysplasia SPECC1L Sarah Leigh commented on SPECC1L
Skeletal dysplasia SPARC Sarah Leigh marked SPARC as ready
Skeletal dysplasia SNX10 Sarah Leigh marked SNX10 as ready
Skeletal dysplasia SNX10 Sarah Leigh commented on SNX10
Skeletal dysplasia SNX10 Sarah Leigh classified SNX10 as red
Skeletal dysplasia SNRPB Sarah Leigh marked SNRPB as ready
Skeletal dysplasia SNRPB Sarah Leigh commented on SNRPB
Skeletal dysplasia SNRPB Sarah Leigh classified SNRPB as green
Skeletal dysplasia SMC3 Sarah Leigh marked SMC3 as ready
Skeletal dysplasia SMC3 Sarah Leigh commented on SMC3
Skeletal dysplasia SMC1A Sarah Leigh marked SMC1A as ready
Skeletal dysplasia SMC1A Sarah Leigh commented on SMC1A
Skeletal dysplasia SMAD3 Sarah Leigh marked SMAD3 as ready
Skeletal dysplasia SMAD3 Sarah Leigh commented on SMAD3