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ClinGen Gene Validity Curations
|
SMARCA1
|
Louise Daugherty reviewed SMARCA1
|
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ClinGen Gene Validity Curations
|
COL2A1
|
Sarah Leigh commented on COL2A1
|
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ClinGen Gene Validity Curations
|
LBR
|
Sarah Leigh commented on LBR
|
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ClinGen Gene Validity Curations
|
|
Ellen McDonagh approved panel
|
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ClinGen Gene Validity Curations
|
|
Ellen McDonagh rejected panel
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ClinGen Gene Validity Curations
|
|
Ellen McDonagh approved panel
|
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ClinGen Gene Validity Curations
|
CRYM
|
Ellen McDonagh commented on CRYM
|
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ClinGen Gene Validity Curations
|
ADCY1
|
Ellen McDonagh commented on ADCY1
|
|
ClinGen Gene Validity Curations
|
FAM65B
|
Ellen McDonagh commented on FAM65B
|
|
ClinGen Gene Validity Curations
|
DFNB31
|
Ellen McDonagh commented on DFNB31
|
|
ClinGen Gene Validity Curations
|
CEP78
|
Ellen McDonagh commented on CEP78
|
|
ClinGen Gene Validity Curations
|
TMPO
|
Ellen McDonagh commented on TMPO
|
|
ClinGen Gene Validity Curations
|
SCN4B
|
Ellen McDonagh commented on SCN4B
|
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ClinGen Gene Validity Curations
|
PSD3
|
Ellen McDonagh commented on PSD3
|
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ClinGen Gene Validity Curations
|
OTOF
|
Ellen McDonagh commented on OTOF
|
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ClinGen Gene Validity Curations
|
USH1C
|
Ellen McDonagh commented on USH1C
|
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ClinGen Gene Validity Curations
|
CDH23
|
Ellen McDonagh edited their review of CDH23
|
|
ClinGen Gene Validity Curations
|
PCDH15
|
Ellen McDonagh commented on PCDH15
|
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ClinGen Gene Validity Curations
|
TMC1
|
Ellen McDonagh commented on TMC1
|
|
ClinGen Gene Validity Curations
|
ALMS1
|
Ellen McDonagh edited their review of ALMS1
|
|
ClinGen Gene Validity Curations
|
USH1G
|
Ellen McDonagh commented on USH1G
|
|
ClinGen Gene Validity Curations
|
ADGRV1
|
Ellen McDonagh edited their review of ADGRV1
|
|
ClinGen Gene Validity Curations
|
PALB2
|
Ellen McDonagh commented on PALB2
|
|
ClinGen Gene Validity Curations
|
AKAP9
|
Ellen McDonagh edited their review of AKAP9
|
|
ClinGen Gene Validity Curations
|
NHP2
|
Ellen McDonagh commented on NHP2
|
|
ClinGen Gene Validity Curations
|
LRTOMT
|
Ellen McDonagh edited their review of LRTOMT
|
|
ClinGen Gene Validity Curations
|
BAG3
|
Ellen McDonagh edited their review of BAG3
|
|
ClinGen Gene Validity Curations
|
DICER1
|
Ellen McDonagh edited their review of DICER1
|
|
ClinGen Gene Validity Curations
|
RPS24
|
Ellen McDonagh commented on RPS24
|
|
ClinGen Gene Validity Curations
|
RPS10
|
Ellen McDonagh commented on RPS10
|
|
ClinGen Gene Validity Curations
|
RAD51C
|
Ellen McDonagh commented on RAD51C
|
|
ClinGen Gene Validity Curations
|
WRAP53
|
Ellen McDonagh commented on WRAP53
|
|
ClinGen Gene Validity Curations
|
SMAD3
|
Ellen McDonagh commented on SMAD3
|
|
ClinGen Gene Validity Curations
|
AGTR2
|
Ellen McDonagh edited their review of AGTR2
|
|
ClinGen Gene Validity Curations
|
DNMT1
|
Ellen McDonagh edited their review of DNMT1
|
|
ClinGen Gene Validity Curations
|
NGLY1
|
Ellen McDonagh edited their review of NGLY1
|
|
ClinGen Gene Validity Curations
|
SKI
|
Ellen McDonagh commented on SKI
|
|
ClinGen Gene Validity Curations
|
LAMB1
|
Ellen McDonagh edited their review of LAMB1
|
|
ClinGen Gene Validity Curations
|
CHD1L
|
Ellen McDonagh edited their review of CHD1L
|
|
ClinGen Gene Validity Curations
|
LBR
|
Ellen McDonagh edited their review of LBR
|
|
ClinGen Gene Validity Curations
|
RAD51D
|
Ellen McDonagh commented on RAD51D
|
|
ClinGen Gene Validity Curations
|
SOS2
|
Ellen McDonagh commented on SOS2
|
|
ClinGen Gene Validity Curations
|
ATF6
|
Ellen McDonagh edited their review of ATF6
|
|
ClinGen Gene Validity Curations
|
HNRNPK
|
Ellen McDonagh edited their review of HNRNPK
|
|
ClinGen Gene Validity Curations
|
COL2A1
|
Ellen McDonagh edited their review of COL2A1
|
|
ClinGen Gene Validity Curations
|
SMARCA1
|
Ellen McDonagh commented on SMARCA1
|
|
ClinGen Gene Validity Curations
|
VPS8
|
Ellen McDonagh commented on VPS8
|
|
ClinGen Gene Validity Curations
|
MYO9A
|
Ellen McDonagh edited their review of MYO9A
|
|
ClinGen Gene Validity Curations
|
DMXL2
|
Ellen McDonagh edited their review of DMXL2
|
|
ClinGen Gene Validity Curations
|
FGFR3
|
Ellen McDonagh edited their review of FGFR3
|
|
ClinGen Gene Validity Curations
|
CD3E
|
Ellen McDonagh edited their review of CD3E
|
|
ClinGen Gene Validity Curations
|
C1QB
|
Ellen McDonagh edited their review of C1QB
|
|
ClinGen Gene Validity Curations
|
USH2A
|
Ellen McDonagh commented on USH2A
|
|
ClinGen Gene Validity Curations
|
DFNB31
|
Ellen McDonagh commented on DFNB31
|
|
ClinGen Gene Validity Curations
|
FAM65B
|
Ellen McDonagh commented on FAM65B
|
|
ClinGen Gene Validity Curations
|
NGLY1
|
Ellen McDonagh classified NGLY1 as green
|
|
ClinGen Gene Validity Curations
|
NGLY1
|
Ellen McDonagh added NGLY1 to panel
|
|
ClinGen Gene Validity Curations
|
NGLY1
|
Ellen McDonagh reviewed NGLY1
|
|
ClinGen Gene Validity Curations
|
MYO9A
|
Ellen McDonagh classified MYO9A as red
|
|
ClinGen Gene Validity Curations
|
MYO9A
|
Ellen McDonagh added MYO9A to panel
|
|
ClinGen Gene Validity Curations
|
MYO9A
|
Ellen McDonagh reviewed MYO9A
|
|
ClinGen Gene Validity Curations
|
LRTOMT
|
Ellen McDonagh classified LRTOMT as green
|
|
ClinGen Gene Validity Curations
|
LRTOMT
|
Ellen McDonagh added LRTOMT to panel
|
|
ClinGen Gene Validity Curations
|
LRTOMT
|
Ellen McDonagh reviewed LRTOMT
|
|
ClinGen Gene Validity Curations
|
LBR
|
Ellen McDonagh classified LBR as amber
|
|
ClinGen Gene Validity Curations
|
LBR
|
Ellen McDonagh added LBR to panel
|
|
ClinGen Gene Validity Curations
|
LBR
|
Ellen McDonagh reviewed LBR
|
|
ClinGen Gene Validity Curations
|
LAMB1
|
Ellen McDonagh classified LAMB1 as amber
|
|
ClinGen Gene Validity Curations
|
LAMB1
|
Ellen McDonagh added LAMB1 to panel
|
|
ClinGen Gene Validity Curations
|
LAMB1
|
Ellen McDonagh reviewed LAMB1
|
|
ClinGen Gene Validity Curations
|
HNRNPK
|
Ellen McDonagh classified HNRNPK as amber
|
|
ClinGen Gene Validity Curations
|
HNRNPK
|
Ellen McDonagh added HNRNPK to panel
|
|
ClinGen Gene Validity Curations
|
HNRNPK
|
Ellen McDonagh reviewed HNRNPK
|
|
ClinGen Gene Validity Curations
|
FGFR3
|
Ellen McDonagh classified FGFR3 as green
|
|
ClinGen Gene Validity Curations
|
FGFR3
|
Ellen McDonagh edited their review of FGFR3
|
|
ClinGen Gene Validity Curations
|
FGFR3
|
Ellen McDonagh added FGFR3 to panel
|
|
ClinGen Gene Validity Curations
|
FGFR3
|
Ellen McDonagh reviewed FGFR3
|
|
ClinGen Gene Validity Curations
|
DNMT1
|
Ellen McDonagh classified DNMT1 as green
|
|
ClinGen Gene Validity Curations
|
DNMT1
|
Ellen McDonagh added DNMT1 to panel
|
|
ClinGen Gene Validity Curations
|
DNMT1
|
Ellen McDonagh reviewed DNMT1
|
|
ClinGen Gene Validity Curations
|
DMXL2
|
Ellen McDonagh classified DMXL2 as amber
|
|
ClinGen Gene Validity Curations
|
DMXL2
|
Ellen McDonagh added DMXL2 to panel
|
|
ClinGen Gene Validity Curations
|
DMXL2
|
Ellen McDonagh reviewed DMXL2
|
|
ClinGen Gene Validity Curations
|
DICER1
|
Ellen McDonagh classified DICER1 as green
|
|
ClinGen Gene Validity Curations
|
DICER1
|
Ellen McDonagh added DICER1 to panel
|
|
ClinGen Gene Validity Curations
|
DICER1
|
Ellen McDonagh reviewed DICER1
|
|
ClinGen Gene Validity Curations
|
COL2A1
|
Ellen McDonagh classified COL2A1 as amber
|
|
ClinGen Gene Validity Curations
|
COL2A1
|
Ellen McDonagh added COL2A1 to panel
|
|
ClinGen Gene Validity Curations
|
COL2A1
|
Ellen McDonagh reviewed COL2A1
|
|
ClinGen Gene Validity Curations
|
CHD1L
|
Ellen McDonagh added CHD1L to panel
|
|
ClinGen Gene Validity Curations
|
CHD1L
|
Ellen McDonagh reviewed CHD1L
|
|
ClinGen Gene Validity Curations
|
CDH23
|
Ellen McDonagh classified CDH23 as green
|
|
ClinGen Gene Validity Curations
|
CDH23
|
Ellen McDonagh added CDH23 to panel
|
|
ClinGen Gene Validity Curations
|
CDH23
|
Ellen McDonagh reviewed CDH23
|
|
ClinGen Gene Validity Curations
|
CD3E
|
Ellen McDonagh classified CD3E as green
|
|
ClinGen Gene Validity Curations
|
CD3E
|
Ellen McDonagh added CD3E to panel
|
|
ClinGen Gene Validity Curations
|
CD3E
|
Ellen McDonagh reviewed CD3E
|
|
ClinGen Gene Validity Curations
|
C1QB
|
Ellen McDonagh classified C1QB as green
|
|
ClinGen Gene Validity Curations
|
C1QB
|
Ellen McDonagh added C1QB to panel
|
|
ClinGen Gene Validity Curations
|
C1QB
|
Ellen McDonagh reviewed C1QB
|
|
ClinGen Gene Validity Curations
|
AKAP9
|
Ellen McDonagh edited their review of AKAP9
|
|
ClinGen Gene Validity Curations
|
BAG3
|
Ellen McDonagh classified BAG3 as green
|
|
ClinGen Gene Validity Curations
|
BAG3
|
Ellen McDonagh added BAG3 to panel
|
|
ClinGen Gene Validity Curations
|
BAG3
|
Ellen McDonagh reviewed BAG3
|
|
ClinGen Gene Validity Curations
|
ATF6
|
Ellen McDonagh classified ATF6 as green
|
|
ClinGen Gene Validity Curations
|
ATF6
|
Ellen McDonagh added ATF6 to panel
|
|
ClinGen Gene Validity Curations
|
ATF6
|
Ellen McDonagh reviewed ATF6
|
|
ClinGen Gene Validity Curations
|
ALMS1
|
Ellen McDonagh marked ALMS1 as ready
|
|
ClinGen Gene Validity Curations
|
ALMS1
|
Ellen McDonagh edited their review of ALMS1
|
|
ClinGen Gene Validity Curations
|
ALMS1
|
Ellen McDonagh classified ALMS1 as green
|
|
ClinGen Gene Validity Curations
|
ALMS1
|
Ellen McDonagh added ALMS1 to panel
|
|
ClinGen Gene Validity Curations
|
ALMS1
|
Ellen McDonagh reviewed ALMS1
|
|
ClinGen Gene Validity Curations
|
AGTR2
|
Ellen McDonagh marked AGTR2 as ready
|
|
ClinGen Gene Validity Curations
|
AKAP9
|
Ellen McDonagh marked AKAP9 as ready
|
|
ClinGen Gene Validity Curations
|
AKAP9
|
Ellen McDonagh classified AKAP9 as red
|
|
ClinGen Gene Validity Curations
|
AKAP9
|
Ellen McDonagh added AKAP9 to panel
|
|
ClinGen Gene Validity Curations
|
AKAP9
|
Ellen McDonagh reviewed AKAP9
|
|
ClinGen Gene Validity Curations
|
AGTR2
|
Ellen McDonagh added AGTR2 to panel
|
|
ClinGen Gene Validity Curations
|
AGTR2
|
Ellen McDonagh reviewed AGTR2
|
|
ClinGen Gene Validity Curations
|
ADGRV1
|
Ellen McDonagh marked ADGRV1 as ready
|
|
ClinGen Gene Validity Curations
|
ADGRV1
|
Ellen McDonagh classified ADGRV1 as green
|
|
ClinGen Gene Validity Curations
|
ADGRV1
|
Ellen McDonagh added ADGRV1 to panel
|
|
ClinGen Gene Validity Curations
|
ADGRV1
|
Ellen McDonagh reviewed ADGRV1
|