|
|
Parkinson Disease and Complex Parkinsonism
|
JPH3
|
Ellen McDonagh Added STR to panel
|
|
|
Parkinson Disease and Complex Parkinsonism
|
HTT
|
Ellen McDonagh edited their review of STR: HTT_CAG
|
|
|
Parkinson Disease and Complex Parkinsonism
|
HTT
|
Ellen McDonagh Added STR to panel
|
|
|
Parkinson Disease and Complex Parkinsonism
|
C9orf72
|
Ellen McDonagh commented on STR: C9orf72_GGGGCC
|
|
|
Parkinson Disease and Complex Parkinsonism
|
C9orf72
|
Ellen McDonagh Added STR to panel
|
|
|
Parkinson Disease and Complex Parkinsonism
|
ATXN3
|
Ellen McDonagh Added STR to panel
|
|
|
Parkinson Disease and Complex Parkinsonism
|
ATXN2
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
TLK2
|
Ellen McDonagh classified TLK2 as Green List (high evidence)
|
|
|
Paediatric motor neuronopathies
|
DMPK
|
Ellen McDonagh Added STR to panel
|
|
|
Paediatric motor neuronopathies
|
AR
|
Ellen McDonagh Added STR to panel
|
|
|
Gastrointestinal neuromuscular disorders
|
DMPK
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
PPP2R2B
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
DMPK
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
C9orf72
|
Ellen McDonagh edited their review of STR: C9orf72_GGGGCC
|
|
|
Intellectual disability
|
C9orf72
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
ATXN7
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
ATXN3
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
ATXN7
|
Louise Daugherty commented on STR: ATXN7_CAG
|
|
|
Intellectual disability
|
ATXN2
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
ATXN10
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
ATXN1
|
Ellen McDonagh Added STR to panel
|
|
|
Primary ciliary disorders
|
C2orf71
|
Louise Daugherty commented on gene: C2orf71
|
|
|
Thoracic dystrophies
|
C2orf71
|
Louise Daugherty commented on gene: C2orf71
|
|
|
Glaucoma (developmental)
|
C2orf71
|
Louise Daugherty commented on gene: C2orf71
|
|
|
Intellectual disability
|
FXN
|
Ellen McDonagh Added STR to panel
|
|
|
Skeletal dysplasia
|
C2orf71
|
Louise Daugherty commented on gene: C2orf71
|
|
|
Retinal disorders
|
C2orf71
|
Louise Daugherty commented on gene: C2orf71
|
|
|
Rare multisystem ciliopathy disorders
|
C2orf71
|
Louise Daugherty commented on gene: C2orf71
|
|
|
Intellectual disability
|
C2orf71
|
Louise Daugherty commented on gene: C2orf71
|
|
|
Intellectual disability
|
FMR1
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
CSTB
|
Ellen McDonagh Added STR to panel
|
|
|
Intellectual disability
|
CSTB
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
FXN
|
Ellen McDonagh commented on STR: FXN_GAA
|
|
|
Hypertrophic cardiomyopathy
|
FXN
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
TBP
|
Ellen McDonagh reviewed STR: TBP_CAG
|
|
|
Hereditary ataxia
|
TBP
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
PPP2R2B
|
Ellen McDonagh commented on STR: PPP2R2B_CAG
|
|
|
Hereditary ataxia
|
PPP2R2B
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
NOP56
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
ATXN7
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
ATXN3
|
Ellen McDonagh Added STR to panel
|
|
|
Amyotrophic lateral sclerosis/motor neuron disease
|
ATXN2
|
Ellen McDonagh reviewed STR: ATXN2_CAG
|
|
|
Hereditary ataxia
|
ATXN2
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
ATXN10
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
ATXN1
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
ATN1
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
FXN_GAA
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
FMR1
|
Ellen McDonagh Added STR to panel
|
|
|
Hereditary ataxia
|
CACNA1A
|
Ellen McDonagh Added STR to panel
|
|
|
Fetal hydrops
|
DMPK
|
Ellen McDonagh Added STR to panel
|
|
|
Primary ovarian insufficiency
|
FMR1
|
Ellen McDonagh edited their review of STR: FMR1_CGG
|
|
|
Primary ovarian insufficiency
|
FMR1
|
Ellen McDonagh Added STR to panel
|
|
|
Early onset dementia (encompassing fronto-temporal dementia and prion disease)
|
JPH3
|
Ellen McDonagh Added STR to panel
|
|
|
Early onset dementia (encompassing fronto-temporal dementia and prion disease)
|
C9orf72
|
Ellen McDonagh Added STR to panel
|
|
|
Early onset dementia (encompassing fronto-temporal dementia and prion disease)
|
ATN1
|
Ellen McDonagh Added STR to panel
|
|
|
Distal myopathies
|
CNBP
|
Ellen McDonagh edited their review of STR: CNBP_CCTG
|
|
|
Distal myopathies
|
CNBP
|
Ellen McDonagh edited their review of STR: CNBP_CCTG
|
|
|
Distal myopathies
|
CNBP
|
Ellen McDonagh Added STR to panel
|
|
|
Congenital myopathy
|
DMPK
|
Ellen McDonagh Added STR to panel
|
|
|
Brain channelopathy
|
HTT
|
Ellen McDonagh Added STR to panel
|
|
|
Brain channelopathy
|
ATN1
|
Ellen McDonagh Added STR to panel
|
|
|
Amyotrophic lateral sclerosis/motor neuron disease
|
ATXN2
|
Ellen McDonagh commented on STR: ATXN2_CAG
|
|
|
Amyotrophic lateral sclerosis/motor neuron disease
|
AR
|
Ellen McDonagh commented on STR: AR_CAG
|
|
|
Amyotrophic lateral sclerosis/motor neuron disease
|
C9orf72
|
Ellen McDonagh edited their review of STR: C9orf72_GGGGCC
|
|
|
Amyotrophic lateral sclerosis/motor neuron disease
|
C9orf72
|
Ellen McDonagh Added STR to panel
|
|
|
Amyotrophic lateral sclerosis/motor neuron disease
|
ATXN2
|
Ellen McDonagh commented on STR: ATXN2_CAG
|
|
|
Amyotrophic lateral sclerosis/motor neuron disease
|
ATXN2
|
Ellen McDonagh Added STR to panel
|
|
|
Amyotrophic lateral sclerosis/motor neuron disease
|
AR
|
Ellen McDonagh Added STR to panel
|
|
|
Cystic kidney disease
|
DNAJB11
|
John Sayer Added gene to panel
|
|
|
Sarcoma cancer susceptibility
|
T
|
Louise Daugherty commented on T
|
|
|
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
|
HNRNPDL
|
Ellen McDonagh classified HNRNPDL as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2C
|
Sarah Leigh classified RNASEH2C as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Sarah Leigh classified RNASEH2B as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Sarah Leigh classified RNASEH2B as Green List (high evidence)
|
|
|
Neonatal cholestasis
|
HNF1B
|
Ellen McDonagh classified HNF1B as Green List (high evidence)
|
|
|
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
|
HNRNPDL
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
EPHX1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
UTP4
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
VPS33B
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
VIPAS39
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
UGT1A1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
TRMU
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
TMEM216
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
TJP2
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
SMPD1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
SLC27A5
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
SLC25A13
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
SLC10A2
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
SLC10A1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
SERPINA1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
SCP2
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
POLG
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PKHD1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX7
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX6
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX5
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX3
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX26
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX2
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX19
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX16
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX14
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX13
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX12
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX11B
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX10
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
PEX1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
NR1H4
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
NPHP4
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
NPHP3
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
NPHP1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
NPC2
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
NPC1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
NOTCH2
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
MPV17
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
MKS1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
LIPA
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
INVS
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
HSD3B7
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
HSD17B4
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
HNF1B
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
GPBAR1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
FAH
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
EHHADH
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
DHCR7
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
DGUOK
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
DCDC2
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
CYP7B1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
CYP7A1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
CYP27A1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
CLDN1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
CFTR
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
CC2D2A
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
BAAT
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
ATP8B1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
AMACR
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
ALDOB
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
AKR1D1
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
ABCG8
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
ABCG5
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
ABCC2
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
ABCB4
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
ABCB11
|
Ellen McDonagh Added gene to panel
|
|
|
Neonatal cholestasis
|
JAG1
|
Ellen Thomas Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Eleanor Williams classified SPINK5 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Eleanor Williams commented on SPINK5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Eleanor Williams commented on SPINK5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Eleanor Williams commented on SPINK5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Eleanor Williams classified SP110 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Eleanor Williams commented on SP110
|
|
|
Intellectual disability
|
MTOR
|
Louise Daugherty classified MTOR as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Eleanor Williams classified SMARCAL1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Eleanor Williams commented on SMARCAL1
|
|
|
Inherited bleeding disorders
|
HRG
|
Louise Daugherty edited their review of HRG
|
|
|
Inherited bleeding disorders
|
HRG
|
Louise Daugherty commented on HRG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Eleanor Williams classified SLC46A1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Eleanor Williams reviewed SLC46A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Eleanor Williams classified SLC35C1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Eleanor Williams commented on SLC35C1
|
|
|
Genodermatoses with malignancies
|
PTCH2
|
Eleanor Williams edited their review of PTCH2
|
|
|
Early onset or syndromic epilepsy
|
SRPX2
|
Sarah Leigh commented on SRPX2
|
|
|
Genodermatoses with malignancies
|
PTCH2
|
Eleanor Williams classified PTCH2 as Amber List (moderate evidence)
|
|
|
Early onset or syndromic epilepsy
|
SRPX2
|
Sarah Leigh classified SRPX2 as Amber List (moderate evidence)
|
|
|
Intellectual disability
|
SRPX2
|
Sarah Leigh reviewed SRPX2
|
|
|
Genodermatoses with malignancies
|
PTCH2
|
Eleanor Williams commented on PTCH2
|
|
|
Genodermatoses with malignancies
|
PTCH2
|
Eleanor Williams commented on PTCH2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Olivia Niblock classified LIG1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Olivia Niblock commented on LIG1
|
|
|
IUGR and IGF abnormalities
|
LIG1
|
Olivia Niblock reviewed LIG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Olivia Niblock commented on LIG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Eleanor Williams classified SERPING1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Eleanor Williams classified SERPING1 as Green List (high evidence)
|
|
|
Sarcoma cancer susceptibility
|
T
|
Ellen McDonagh commented on T
|
|
|
Sarcoma cancer susceptibility
|
T
|
Ellen McDonagh classified T as Green List (high evidence)
|
|
|
Sarcoma cancer susceptibility
|
T
|
Ellen McDonagh Added gene to panel
|
|
|
Sarcoma cancer susceptibility
|
TNFRSF11A
|
Ellen McDonagh commented on TNFRSF11A
|
|
|
Sarcoma cancer susceptibility
|
TNFRSF11A
|
Ellen McDonagh classified TNFRSF11A as Red List (low evidence)
|
|
|
Sarcoma cancer susceptibility
|
TNFRSF11A
|
Ellen McDonagh Added gene to panel
|
|
|
Sarcoma cancer susceptibility
|
SQSTM1
|
Ellen McDonagh classified SQSTM1 as Green List (high evidence)
|
|
|
Sarcoma cancer susceptibility
|
SQSTM1
|
Ellen McDonagh commented on SQSTM1
|
|
|
Sarcoma cancer susceptibility
|
SQSTM1
|
Ellen McDonagh Added gene to panel
|
|
|
Sarcoma cancer susceptibility
|
RECQL4
|
Ellen McDonagh classified RECQL4 as Green List (high evidence)
|
|
|
Sarcoma cancer susceptibility
|
RECQL4
|
Ellen McDonagh Added gene to panel
|
|
|
Sarcoma cancer susceptibility
|
PDGFRA
|
Ellen McDonagh classified PDGFRA as Green List (high evidence)
|
|
|
Sarcoma cancer susceptibility
|
PDGFRA
|
Ellen McDonagh commented on PDGFRA
|
|
|
Sarcoma cancer susceptibility
|
PDGFRA
|
Ellen McDonagh Added gene to panel
|
|
|
Sarcoma cancer susceptibility
|
MTAP
|
Ellen McDonagh commented on MTAP
|
|
|
Sarcoma cancer susceptibility
|
MTAP
|
Ellen McDonagh classified MTAP as Green List (high evidence)
|
|
|
Sarcoma cancer susceptibility
|
MTAP
|
Ellen McDonagh Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
WAS
|
Ellen McDonagh commented on WAS
|
|
|
Cytopenias and congenital anaemias
|
WAS
|
Ellen McDonagh commented on WAS
|
|
|
Inherited bleeding disorders
|
WAS
|
Ellen McDonagh commented on WAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WAS
|
Ellen McDonagh edited their review of WAS
|
|
|
Haematological malignancies for rare disease
|
WAS
|
Ellen McDonagh commented on WAS
|
|
|
Haematological malignancies cancer susceptibility
|
WAS
|
Ellen McDonagh commented on WAS
|
|
|
Infantile enterocolitis & monogenic inflammatory bowel disease
|
WAS
|
Ellen McDonagh commented on WAS
|
|
|
Undiagnosed metabolic disorders
|
UGT1A1
|
Ellen McDonagh commented on UGT1A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Ellen McDonagh commented on SPINK5
|
|
|
Severe multi-system atopic disease with high IgE
|
SPINK5
|
Ellen McDonagh commented on SPINK5
|
|
|
Hereditary neuropathy
|
SMN1
|
Ellen McDonagh edited their review of SMN1
|
|
|
Paediatric motor neuronopathies
|
SMN1
|
Ellen McDonagh commented on SMN1
|
|
|
Retinal disorders
|
RPGR
|
Ellen McDonagh edited their review of RPGR
|
|
|
Retinal disorders
|
RPE65
|
Ellen McDonagh edited their review of RPE65
|
|
|
Intellectual disability
|
OTC
|
Ellen McDonagh commented on OTC
|
|
|
Undiagnosed metabolic disorders
|
OTC
|
Ellen McDonagh commented on OTC
|
|
|
Hyperammonaemia
|
OTC
|
Ellen McDonagh edited their review of OTC
|
|
|
Optic neuropathy
|
MT-ND4
|
Ellen McDonagh edited their review of MT-ND4
|
|
|
Mitochondrial disorders
|
MT-ND4
|
Ellen McDonagh edited their review of MT-ND4
|
|
|
Undiagnosed metabolic disorders
|
MT-ND4
|
Ellen McDonagh commented on MT-ND4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RG
|
Ellen McDonagh edited their review of IL2RG
|
|
|
Infantile enterocolitis & monogenic inflammatory bowel disease
|
IL2RG
|
Ellen McDonagh commented on IL2RG
|
|
|
Cerebral vascular malformations
|
HBB
|
Ellen McDonagh edited their review of HBB
|
|
|
Cytopenias and congenital anaemias
|
HBB
|
Ellen McDonagh commented on HBB
|
|
|
Hereditary Erythrocytosis
|
HBB
|
Ellen McDonagh commented on HBB
|
|
|
Inherited bleeding disorders
|
F9
|
Ellen McDonagh commented on F9
|
|
|
Inherited bleeding disorders
|
F8
|
Ellen McDonagh commented on F8
|
|
|
Intellectual disability
|
DMD
|
Ellen McDonagh commented on DMD
|
|
|
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
|
DMD
|
Ellen McDonagh commented on DMD
|
|
|
Congenital muscular dystrophy
|
DMD
|
Ellen McDonagh edited their review of DMD
|
|
|
Gastrointestinal neuromuscular disorders
|
DMD
|
Ellen McDonagh edited their review of DMD
|
|
|
Rhabdomyolysis and metabolic muscle disorders
|
DMD
|
Ellen McDonagh commented on DMD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBB
|
Ellen McDonagh commented on CYBB
|
|
|
Infantile enterocolitis & monogenic inflammatory bowel disease
|
CYBB
|
Ellen McDonagh commented on CYBB
|
|
|
Retinal disorders
|
CNGB3
|
Ellen McDonagh edited their review of CNGB3
|
|
|
Retinal disorders
|
CHM
|
Ellen McDonagh edited their review of CHM
|
|
|
Non-CF bronchiectasis
|
CFTR
|
Ellen McDonagh edited their review of CFTR
|
|
|
Intellectual disability
|
ATP2A2
|
Ellen McDonagh commented on ATP2A2
|
|
|
Infantile enterocolitis & monogenic inflammatory bowel disease
|
ADA
|
Ellen McDonagh edited their review of ADA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA
|
Ellen McDonagh edited their review of ADA
|
|
|
Intellectual disability
|
ADA
|
Ellen McDonagh commented on ADA
|
|
|
Undiagnosed metabolic disorders
|
ADA
|
Ellen McDonagh commented on ADA
|
|
|
Intellectual disability
|
ABCD1
|
Ellen McDonagh commented on ABCD1
|
|
|
Undiagnosed metabolic disorders
|
ABCD1
|
Ellen McDonagh commented on ABCD1
|
|
|
Inherited white matter disorders
|
ABCD1
|
Ellen McDonagh edited their review of ABCD1
|
|
|
Congenital adrenal hypoplasia
|
ABCD1
|
Ellen McDonagh commented on ABCD1
|
|
|
Peroxisomal disorders
|
ABCD1
|
Ellen McDonagh commented on ABCD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLOC1S6
|
Louise Daugherty edited their review of BLOC1S6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF3R
|
Louise Daugherty classified CSF3R as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty edited their review of CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty edited their review of CD247
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty classified ATM as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ARPC1B
|
Louise Daugherty edited their review of ARPC1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty commented on BLM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty classified BLM as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty edited their review of BLM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BCL10
|
Louise Daugherty edited their review of BCL10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
B2M
|
Louise Daugherty edited their review of B2M
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty edited their review of ATM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty edited their review of ATM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ARPC1B
|
Louise Daugherty edited their review of ARPC1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ARPC1B
|
Louise Daugherty edited their review of ARPC1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
APOL1
|
Louise Daugherty classified APOL1 as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
APOL1
|
Louise Daugherty commented on APOL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty commented on AP3B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty classified AP3B1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3D1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty edited their review of AP3B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAR
|
Louise Daugherty classified ADAR as Green List (high evidence)
|
|
|
Intellectual disability
|
YWHAG
|
Louise Daugherty classified YWHAG as Green List (high evidence)
|
|
|
Intellectual disability
|
RAB11B
|
Louise Daugherty classified RAB11B as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Eleanor Williams classified SLC29A3 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Eleanor Williams commented on SLC29A3
|
|
|
Intellectual disability
|
RAB11B
|
Louise Daugherty commented on RAB11B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Eleanor Williams edited their review of SLC29A3
|
|
|
Intellectual disability
|
YWHAG
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAR
|
Louise Daugherty edited their review of ADAR
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Eleanor Williams commented on SERPING1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Eleanor Williams commented on SERPING1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Eleanor Williams edited their review of SERPING1
|
|
|
Retinal disorders
|
PITPNM3
|
Andrew Webster reviewed PITPNM3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Eleanor Williams classified SEMA3E as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Eleanor Williams classified SEMA3E as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Eleanor Williams commented on SEMA3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Eleanor Williams edited their review of SEMA3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2A
|
Sarah Leigh classified RNASEH2A as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RHOH
|
Sarah Leigh classified RHOH as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SART3
|
Eleanor Williams classified SART3 as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SART3
|
Eleanor Williams commented on SART3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SART3
|
Eleanor Williams commented on SART3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARMIL2
|
Sarah Leigh classified CARMIL2 as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RET
|
Sarah Leigh classified RET as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RBCK1
|
Sarah Leigh classified RBCK1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAC2
|
Sarah Leigh classified RAC2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAPBP
|
Eleanor Williams edited their review of TAPBP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAPBP
|
Eleanor Williams commented on TAPBP
|
|
|
Retinal disorders
|
HGSNAT
|
Andrew Webster reviewed HGSNAT
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAB27A
|
Sarah Leigh classified RAB27A as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSTPIP1
|
Sarah Leigh classified PSTPIP1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Eleanor Williams classified TAP2 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Eleanor Williams commented on TAP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Eleanor Williams commented on TAP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSMB8
|
Sarah Leigh classified PSMB8 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKCD
|
Sarah Leigh classified PRKCD as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF3R
|
Louise Daugherty commented on CSF3R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
POLE
|
Sarah Leigh classified POLE as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF3R
|
Louise Daugherty edited their review of CSF3R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PMS2
|
Sarah Leigh classified PMS2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CR2
|
Louise Daugherty edited their review of CR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PLCG2
|
Sarah Leigh classified PLCG2 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Eleanor Williams classified TAP1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Eleanor Williams commented on TAP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Eleanor Williams commented on TAP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Eleanor Williams commented on TAP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PGM3
|
Sarah Leigh classified PGM3 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PARN
|
Sarah Leigh classified PARN as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ORAI1
|
Sarah Leigh classified ORAI1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NRAS
|
Sarah Leigh classified NRAS as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOP10
|
Sarah Leigh classified NOP10 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOD2
|
Sarah Leigh classified NOD2 as Green List (high evidence)
|
|
|
Clefting
|
CDH1
|
Ellen McDonagh commented on CDH1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP3
|
Sarah Leigh classified NLRP3 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP12
|
Sarah Leigh classified NLRP12 as Green List (high evidence)
|
|
|
Intellectual disability
|
OCLN
|
Louise Daugherty commented on OCLN
|
|
|
Intellectual disability
|
HMGCL
|
Louise Daugherty classified HMGCL as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MEFV
|
Sarah Leigh classified MEFV as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MPO
|
Sarah Leigh reviewed MPO
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty classified CD79B as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty commented on CD79B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty edited their review of CD79B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty edited their review of CD79B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty classified CD79A as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty classified CD79A as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty commented on CD79A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty edited their review of CD79A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty edited their review of CD79A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty edited their review of CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40LG
|
Louise Daugherty classified CD40LG as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40LG
|
Louise Daugherty commented on CD40LG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40LG
|
Louise Daugherty edited their review of CD40LG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty commented on CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty classified CD40 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty commented on CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty commented on CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty edited their review of CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STIM1
|
Eleanor Williams classified STIM1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5B
|
Eleanor Williams classified STAT5B as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Eleanor Williams edited their review of STAT3
|
|
|
Pancreatitis
|
CXCL8
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CEL
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CCL2
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CPA1
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CLDN2
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CTSB
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CASR
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CTRB2
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CTRB1
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CTRC
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
SPINK1
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
CFTR
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
PRSS2
|
Ellen McDonagh Added gene to panel
|
|
|
Pancreatitis
|
PRSS1
|
Ellen McDonagh Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRC4
|
Sarah Leigh classified NLRC4 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STIM1
|
Eleanor Williams commented on STIM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHP2
|
Sarah Leigh classified NHP2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5B
|
Eleanor Williams commented on STAT5B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKBIA
|
Sarah Leigh classified NFKBIA as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB2
|
Sarah Leigh classified NFKB2 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB1
|
Sarah Leigh classified NFKB1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFAT5
|
Sarah Leigh commented on NFAT5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFAT5
|
Sarah Leigh commented on NFAT5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF4
|
Sarah Leigh reviewed NCF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF2
|
Sarah Leigh classified NCF2 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF1
|
Sarah Leigh classified NCF1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NBN
|
Sarah Leigh classified NBN as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYO5B
|
Sarah Leigh classified MYO5B as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYD88
|
Sarah Leigh classified MYD88 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5A
|
Eleanor Williams reviewed STAT5A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MVK
|
Sarah Leigh classified MVK as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MVK
|
Sarah Leigh classified MVK as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Eleanor Williams edited their review of STAT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Eleanor Williams edited their review of STAT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Eleanor Williams classified STAT3 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT2
|
Eleanor Williams classified STAT2 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty edited their review of CD247
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty edited their review of CD247
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT1
|
Eleanor Williams classified STAT1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty edited their review of CD247
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty edited their review of CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty edited their review of CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty edited their review of CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty edited their review of CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH3BP2
|
Eleanor Williams classified SH3BP2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty edited their review of CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP10
|
Louise Daugherty classified CASP10 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP10
|
Louise Daugherty commented on CASP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP10
|
Louise Daugherty edited their review of CASP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MTHFD1
|
Sarah Leigh classified MTHFD1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSH6
|
Sarah Leigh classified MSH6 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSH6
|
Sarah Leigh commented on MSH6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Sarah Leigh classified MS4A1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Sarah Leigh reviewed MS4A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Sarah Leigh classified MRE11 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Sarah Leigh commented on MRE11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSH6
|
Sarah Leigh classified MSH6 as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSH6
|
Sarah Leigh classified MSH6 as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AIRE
|
Louise Daugherty classified AIRE as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AIRE
|
Louise Daugherty commented on AIRE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AIRE
|
Louise Daugherty edited their review of AIRE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Sarah Leigh classified MS4A1 as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAM17
|
Louise Daugherty edited their review of ADAM17
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Sarah Leigh classified MRE11 as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH2D1A
|
Eleanor Williams classified SH2D1A as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAM17
|
Louise Daugherty edited their review of ADAM17
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH2D1A
|
Eleanor Williams commented on SH2D1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MOGS
|
Sarah Leigh classified MOGS as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MEFV
|
Sarah Leigh classified MEFV as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MCM4
|
Sarah Leigh classified MCM4 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty commented on ADA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty classified ADA2 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MBL2
|
Sarah Leigh classified MBL2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty commented on ADA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP2
|
Sarah Leigh classified MASP2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAP3K14
|
Sarah Leigh classified MAP3K14 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACTB
|
Louise Daugherty edited their review of ACTB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MALT1
|
Sarah Leigh classified MALT1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MALT1
|
Sarah Leigh classified MALT1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty commented on ACP5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty classified ACP5 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LYST
|
Sarah Leigh classified LYST as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty edited their review of ACP5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty edited their review of ACP5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LRBA
|
Sarah Leigh classified LRBA as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACD
|
Louise Daugherty edited their review of ACD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACD
|
Louise Daugherty edited their review of ACD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CDCA7
|
Louise Daugherty edited their review of CDCA7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CDCA7
|
Louise Daugherty commented on CDCA7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CDCA7
|
Louise Daugherty edited their review of CDCA7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC37
|
Louise Daugherty edited their review of TTC37
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SKIV2L
|
Louise Daugherty edited their review of SKIV2L
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HELLS
|
Louise Daugherty edited their review of HELLS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty classified UNC13D as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty edited their review of UNC13D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty edited their review of UNC13D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty commented on UNC13D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty edited their review of STXBP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty edited their review of STXBP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty commented on STXBP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty classified STXBP2 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty edited their review of STXBP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty edited their review of STX11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty edited their review of STX11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty edited their review of PRF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty classified STX11 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty commented on STX11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty commented on STX11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty edited their review of PRF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty classified PRF1 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty commented on PRF1
|
|
|
Osteogenesis imperfecta
|
FAM46A
|
Louise Daugherty commented on FAM46A
|
|
|
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
|
DNMT3A
|
Helen Brittain classified DNMT3A as Green List (high evidence)
|
|
|
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
|
BRWD3
|
Helen Brittain marked BRWD3 as ready
|
|
|
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
|
BRWD3
|
Helen Brittain classified BRWD3 as Green List (high evidence)
|
|
|
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
|
BRWD3
|
Helen Brittain reviewed BRWD3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CDCA7
|
Louise Daugherty commented on CDCA7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HELLS
|
Louise Daugherty classified HELLS as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HELLS
|
Louise Daugherty commented on HELLS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HELLS
|
Louise Daugherty edited their review of HELLS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HELLS
|
Louise Daugherty commented on HELLS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR2
|
Louise Daugherty classified CFHR2 as Red List (low evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR2
|
Louise Daugherty commented on CFHR2
|
|
|
Intellectual disability
|
SOX9
|
Louise Daugherty classified SOX9 as Green List (high evidence)
|
|
|
Intellectual disability
|
SOX9
|
Louise Daugherty classified SOX9 as Green List (high evidence)
|
|
|
Intellectual disability
|
SOX9
|
Rachel Jones reviewed SOX9
|
|
|
Limb disorders
|
SOX9
|
Rachel Jones reviewed SOX9
|
|
|
Limb disorders
|
SLC25A21
|
Rachel Jones reviewed SLC25A21
|
|
|
Limb disorders
|
SHH
|
Rachel Jones reviewed SHH
|
|
|
Limb disorders
|
IQCE
|
Rachel Jones reviewed IQCE
|
|
|
Skeletal dysplasia
|
GREM1
|
Rachel Jones reviewed GREM1
|
|
|
Limb disorders
|
GREM1
|
Rachel Jones reviewed GREM1
|
|
|
Limb disorders
|
MIPOL1
|
Rachel Jones reviewed MIPOL1
|
|
|
Undiagnosed metabolic disorders
|
PEX11A
|
Louise Daugherty edited their review of PEX11A
|
|
|
Undiagnosed metabolic disorders
|
PEX11A
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX11A
|
Louise Daugherty edited their review of PEX11A
|
|
|
Malformations of cortical development
|
PEX11A
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX7
|
Helen Brittain reviewed PEX7
|
|
|
Malformations of cortical development
|
PEX6
|
Helen Brittain reviewed PEX6
|
|
|
Malformations of cortical development
|
PEX5
|
Helen Brittain reviewed PEX5
|
|
|
Malformations of cortical development
|
PEX3
|
Helen Brittain reviewed PEX3
|
|
|
Malformations of cortical development
|
PEX26
|
Helen Brittain reviewed PEX26
|
|
|
Malformations of cortical development
|
PEX2
|
Helen Brittain reviewed PEX2
|
|
|
Malformations of cortical development
|
PEX19
|
Helen Brittain reviewed PEX19
|
|
|
Malformations of cortical development
|
PEX16
|
Helen Brittain reviewed PEX16
|
|
|
Malformations of cortical development
|
PEX14
|
Helen Brittain reviewed PEX14
|
|
|
Malformations of cortical development
|
PEX13
|
Helen Brittain reviewed PEX13
|
|
|
Malformations of cortical development
|
PEX12
|
Helen Brittain reviewed PEX12
|
|
|
Malformations of cortical development
|
PEX11B
|
Helen Brittain reviewed PEX11B
|
|
|
Malformations of cortical development
|
PEX10
|
Helen Brittain reviewed PEX10
|
|
|
Malformations of cortical development
|
PEX1
|
Helen Brittain reviewed PEX1
|
|
|
Malformations of cortical development
|
PEX7
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX6
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX5
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX3
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX26
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX2
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX19
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX16
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX14
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX13
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX12
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX11B
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX10
|
Louise Daugherty Added gene to panel
|
|
|
Malformations of cortical development
|
PEX1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SKIV2L
|
Louise Daugherty classified SKIV2L as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SKIV2L
|
Louise Daugherty commented on SKIV2L
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC37
|
Louise Daugherty classified TTC37 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC37
|
Louise Daugherty commented on TTC37
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RHOH
|
Louise Daugherty commented on RHOH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RET
|
Louise Daugherty reviewed RET
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RBCK1
|
Louise Daugherty commented on RBCK1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAC2
|
Louise Daugherty commented on RAC2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAB27A
|
Louise Daugherty commented on RAB27A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSTPIP1
|
Louise Daugherty commented on PSTPIP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSMB8
|
Louise Daugherty commented on PSMB8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKCD
|
Louise Daugherty commented on PRKCD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty commented on PRF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
POLE
|
Louise Daugherty commented on POLE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PMS2
|
Louise Daugherty commented on PMS2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PGM3
|
Louise Daugherty commented on PGM3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PARN
|
Louise Daugherty commented on PARN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ORAI1
|
Louise Daugherty commented on ORAI1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NRAS
|
Louise Daugherty commented on NRAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOP10
|
Louise Daugherty commented on NOP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOD2
|
Louise Daugherty commented on NOD2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP3
|
Louise Daugherty commented on NLRP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP12
|
Louise Daugherty commented on NLRP12
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRC4
|
Louise Daugherty commented on NLRC4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHP2
|
Louise Daugherty commented on NHP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKBIA
|
Louise Daugherty commented on NFKBIA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB1
|
Louise Daugherty commented on NFKB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFAT5
|
Louise Daugherty commented on NFAT5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF4
|
Louise Daugherty commented on NCF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF2
|
Louise Daugherty commented on NCF2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF1
|
Louise Daugherty commented on NCF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NBN
|
Louise Daugherty commented on NBN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYO5B
|
Louise Daugherty reviewed MYO5B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MVK
|
Louise Daugherty commented on MVK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MTHFD1
|
Louise Daugherty commented on MTHFD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSH6
|
Louise Daugherty commented on MSH6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Louise Daugherty commented on MS4A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Louise Daugherty commented on MRE11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MPO
|
Louise Daugherty commented on MPO
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MOGS
|
Louise Daugherty commented on MOGS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MEFV
|
Louise Daugherty commented on MEFV
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MCM4
|
Louise Daugherty commented on MCM4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MBL2
|
Louise Daugherty commented on MBL2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP2
|
Louise Daugherty commented on MASP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAP3K14
|
Louise Daugherty commented on MAP3K14
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MALT1
|
Louise Daugherty commented on MALT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LYST
|
Louise Daugherty commented on LYST
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LRBA
|
Louise Daugherty commented on LRBA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LPIN2
|
Louise Daugherty commented on LPIN2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Louise Daugherty commented on LIG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LCK
|
Louise Daugherty commented on LCK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LAMTOR2
|
Louise Daugherty commented on LAMTOR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KRAS
|
Louise Daugherty commented on KRAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAGN1
|
Louise Daugherty commented on JAGN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGB2
|
Louise Daugherty commented on ITGB2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGAM
|
Louise Daugherty commented on ITGAM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITCH
|
Louise Daugherty commented on ITCH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ISG15
|
Louise Daugherty commented on ISG15
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF8
|
Louise Daugherty commented on IRF8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF7
|
Louise Daugherty commented on IRF7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRAK4
|
Louise Daugherty commented on IRAK4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
INO80
|
Louise Daugherty commented on INO80
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL36RN
|
Louise Daugherty commented on IL36RN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RA
|
Louise Daugherty commented on IL2RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL22
|
Louise Daugherty commented on IL22
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21R
|
Louise Daugherty commented on IL21R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21
|
Louise Daugherty commented on IL21
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL1RN
|
Louise Daugherty commented on IL1RN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RC
|
Louise Daugherty commented on IL17RC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RA
|
Louise Daugherty commented on IL17RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17F
|
Louise Daugherty commented on IL17F
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17A
|
Louise Daugherty commented on IL17A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12RB1
|
Louise Daugherty commented on IL12RB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12B
|
Louise Daugherty commented on IL12B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RB
|
Louise Daugherty commented on IL10RB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RA
|
Louise Daugherty commented on IL10RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10
|
Louise Daugherty commented on IL10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKG
|
Louise Daugherty commented on IKBKG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKB
|
Louise Daugherty commented on IKBKB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGLL1
|
Louise Daugherty commented on IGLL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGKC
|
Louise Daugherty commented on IGKC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR2
|
Louise Daugherty commented on IFNGR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR1
|
Louise Daugherty commented on IFNGR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFIH1
|
Louise Daugherty commented on IFIH1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ICOS
|
Louise Daugherty commented on ICOS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HPS6
|
Louise Daugherty reviewed HPS6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HPS4
|
Louise Daugherty reviewed HPS4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HPS1
|
Louise Daugherty reviewed HPS1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GUCY2C
|
Louise Daugherty reviewed GUCY2C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GATA2
|
Louise Daugherty commented on GATA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR1
|
Louise Daugherty commented on FPR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXP3
|
Louise Daugherty commented on FOXP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FERMT3
|
Louise Daugherty commented on FERMT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCN3
|
Louise Daugherty commented on FCN3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3B
|
Louise Daugherty commented on FCGR3B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3A
|
Louise Daugherty commented on FCGR3A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FASLG
|
Louise Daugherty commented on FASLG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FAS
|
Louise Daugherty commented on FAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FADD
|
Louise Daugherty commented on FADD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
F12
|
Louise Daugherty commented on F12
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
EPCAM
|
Louise Daugherty reviewed EPCAM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DOCK2
|
Louise Daugherty commented on DOCK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DKC1
|
Louise Daugherty commented on DKC1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1B
|
Louise Daugherty commented on DCLRE1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBB
|
Louise Daugherty commented on CYBB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBA
|
Louise Daugherty commented on CYBA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTSC
|
Louise Daugherty commented on CTSC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTPS1
|
Louise Daugherty commented on CTPS1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF3R
|
Louise Daugherty commented on CSF3R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF2RA
|
Louise Daugherty commented on CSF2RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CR2
|
Louise Daugherty commented on CR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
COPA
|
Louise Daugherty commented on COPA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CLPB
|
Louise Daugherty commented on CLPB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CHD7
|
Louise Daugherty commented on CHD7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFP
|
Louise Daugherty commented on CFP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFI
|
Louise Daugherty commented on CFI
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR5
|
Louise Daugherty commented on CFHR5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR4
|
Louise Daugherty commented on CFHR4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR3
|
Louise Daugherty commented on CFHR3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR2
|
Louise Daugherty commented on CFHR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR1
|
Louise Daugherty commented on CFHR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFH
|
Louise Daugherty commented on CFH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFD
|
Louise Daugherty commented on CFD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFB
|
Louise Daugherty commented on CFB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CEBPE
|
Louise Daugherty commented on CEBPE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD8A
|
Louise Daugherty commented on CD8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD81
|
Louise Daugherty commented on CD81
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty commented on CD79B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty commented on CD79A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD59
|
Louise Daugherty commented on CD59
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD46
|
Louise Daugherty commented on CD46
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40LG
|
Louise Daugherty commented on CD40LG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty commented on CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3G
|
Louise Daugherty commented on CD3G
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty commented on CD247
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CCBE1
|
Louise Daugherty commented on CCBE1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty commented on CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP10
|
Louise Daugherty commented on CASP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD9
|
Louise Daugherty commented on CARD9
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD14
|
Louise Daugherty commented on CARD14
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD11
|
Louise Daugherty commented on CARD11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C9
|
Louise Daugherty commented on C9
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8G
|
Louise Daugherty commented on C8G
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8B
|
Louise Daugherty commented on C8B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8A
|
Louise Daugherty commented on C8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C7
|
Louise Daugherty commented on C7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C6
|
Louise Daugherty commented on C6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C5
|
Louise Daugherty commented on C5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4B
|
Louise Daugherty commented on C4B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4A
|
Louise Daugherty commented on C4A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C3
|
Louise Daugherty commented on C3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C2
|
Louise Daugherty commented on C2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1S
|
Louise Daugherty commented on C1S
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1R
|
Louise Daugherty commented on C1R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QC
|
Louise Daugherty commented on C1QC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QA
|
Louise Daugherty commented on C1QA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLOC1S6
|
Louise Daugherty commented on BLOC1S6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty commented on BLM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BCL10
|
Louise Daugherty commented on BCL10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
B2M
|
Louise Daugherty commented on B2M
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty commented on ATM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ARPC1B
|
Louise Daugherty commented on ARPC1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
APOL1
|
Louise Daugherty commented on APOL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty commented on AP3B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AIRE
|
Louise Daugherty commented on AIRE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAR
|
Louise Daugherty commented on ADAR
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAM17
|
Louise Daugherty commented on ADAM17
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty commented on ADA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACTB
|
Louise Daugherty commented on ACTB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty commented on ACP5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACD
|
Louise Daugherty commented on ACD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HELLS
|
Louise Daugherty classified HELLS as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CDCA7
|
Louise Daugherty classified CDCA7 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CDCA7
|
Louise Daugherty classified CDCA7 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXN1
|
Louise Daugherty edited their review of FOXN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXN1
|
Louise Daugherty commented on FOXN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LAT
|
Louise Daugherty reviewed LAT
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYD88
|
Louise Daugherty commented on MYD88
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB2
|
Louise Daugherty commented on NFKB2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PLCG2
|
Louise Daugherty commented on PLCG2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCF3
|
Louise Daugherty edited their review of TCF3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13B
|
Louise Daugherty commented on TNFRSF13B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC37
|
Louise Daugherty commented on TTC37
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNG
|
Louise Daugherty commented on UNG
|
|
|
Intellectual disability
|
NAA15
|
Louise Daugherty classified NAA15 as Amber List (moderate evidence)
|
|
|
Intellectual disability
|
NAA15
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2A
|
Louise Daugherty classified RNASEH2A as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2A
|
Louise Daugherty commented on RNASEH2A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Louise Daugherty classified RNASEH2B as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Louise Daugherty edited their review of RNASEH2B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Louise Daugherty commented on RNASEH2B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2C
|
Louise Daugherty classified RNASEH2C as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2C
|
Louise Daugherty commented on RNASEH2C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF168
|
Louise Daugherty commented on RNF168
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF168
|
Louise Daugherty classified RNF168 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF31
|
Louise Daugherty classified RNF31 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF31
|
Louise Daugherty commented on RNF31
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RORC
|
Louise Daugherty classified RORC as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RORC
|
Louise Daugherty commented on RORC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RPSA
|
Louise Daugherty commented on RPSA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RPSA
|
Louise Daugherty classified RPSA as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RPSA
|
Louise Daugherty classified RPSA as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RTEL1
|
Louise Daugherty classified RTEL1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RTEL1
|
Louise Daugherty classified RTEL1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RTEL1
|
Louise Daugherty commented on RTEL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SAMHD1
|
Louise Daugherty classified SAMHD1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SAMHD1
|
Louise Daugherty commented on SAMHD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SART3
|
Louise Daugherty commented on SART3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SART3
|
Louise Daugherty classified SART3 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Louise Daugherty classified SEMA3E as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Louise Daugherty commented on SEMA3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Louise Daugherty classified SERPING1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Louise Daugherty commented on SERPING1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH2D1A
|
Louise Daugherty classified SH2D1A as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH2D1A
|
Louise Daugherty commented on SH2D1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH3BP2
|
Louise Daugherty commented on SH3BP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH3BP2
|
Louise Daugherty classified SH3BP2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SKIV2L
|
Louise Daugherty edited their review of SKIV2L
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SKIV2L
|
Louise Daugherty classified SKIV2L as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SKIV2L
|
Louise Daugherty edited their review of SKIV2L
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Louise Daugherty classified SLC29A3 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Louise Daugherty commented on SLC29A3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Louise Daugherty commented on SLC35C1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Louise Daugherty classified SLC35C1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Louise Daugherty commented on SLC46A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Louise Daugherty classified SLC46A1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Louise Daugherty classified SMARCAL1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Louise Daugherty classified SMARCAL1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Louise Daugherty commented on SMARCAL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Louise Daugherty classified SP110 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Louise Daugherty commented on SP110
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Louise Daugherty classified SPINK5 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Louise Daugherty classified SPINK5 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Louise Daugherty commented on SPINK5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT1
|
Louise Daugherty commented on STAT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT1
|
Louise Daugherty classified STAT1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT2
|
Louise Daugherty classified STAT2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT2
|
Louise Daugherty commented on STAT2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Louise Daugherty classified STAT3 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Louise Daugherty commented on STAT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5A
|
Louise Daugherty classified STAT5A as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5A
|
Louise Daugherty edited their review of STAT5A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5B
|
Louise Daugherty classified STAT5B as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5B
|
Louise Daugherty commented on STAT5B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STIM1
|
Louise Daugherty classified STIM1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STIM1
|
Louise Daugherty commented on STIM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty classified STX11 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty commented on STX11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty classified STXBP2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty commented on STXBP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Louise Daugherty classified TAP1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Louise Daugherty commented on TAP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Louise Daugherty commented on TAP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Louise Daugherty classified TAP2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAPBP
|
Louise Daugherty classified TAPBP as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAPBP
|
Louise Daugherty commented on TAPBP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBK1
|
Louise Daugherty classified TBK1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBK1
|
Louise Daugherty commented on TBK1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBX1
|
Louise Daugherty classified TBX1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBX1
|
Louise Daugherty commented on TBX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCF7L1
|
Louise Daugherty commented on TCF7L1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCF7L1
|
Louise Daugherty classified TCF7L1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERC
|
Louise Daugherty commented on TERC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERC
|
Louise Daugherty classified TERC as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERT
|
Louise Daugherty classified TERT as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERT
|
Louise Daugherty commented on TERT
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
THBD
|
Louise Daugherty commented on THBD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
THBD
|
Louise Daugherty classified THBD as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TICAM1
|
Louise Daugherty commented on TICAM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TICAM1
|
Louise Daugherty edited their review of TICAM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TICAM1
|
Louise Daugherty classified TICAM1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TINF2
|
Louise Daugherty classified TINF2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TINF2
|
Louise Daugherty commented on TINF2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TLR3
|
Louise Daugherty commented on TLR3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TLR3
|
Louise Daugherty classified TLR3 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC6
|
Louise Daugherty classified TMC6 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC6
|
Louise Daugherty commented on TMC6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC8
|
Louise Daugherty classified TMC8 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC8
|
Louise Daugherty commented on TMC8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMEM173
|
Louise Daugherty commented on TMEM173
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMEM173
|
Louise Daugherty classified TMEM173 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13C
|
Louise Daugherty classified TNFRSF13C as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13C
|
Louise Daugherty commented on TNFRSF13C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF1A
|
Louise Daugherty classified TNFRSF1A as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF1A
|
Louise Daugherty commented on TNFRSF1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF4
|
Louise Daugherty classified TNFRSF4 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF4
|
Louise Daugherty commented on TNFRSF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFSF12
|
Louise Daugherty classified TNFSF12 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFSF12
|
Louise Daugherty commented on TNFSF12
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TPP2
|
Louise Daugherty classified TPP2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TPP2
|
Louise Daugherty commented on TPP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TPP2
|
Louise Daugherty edited their review of TPP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAC
|
Louise Daugherty classified TRAC as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAC
|
Louise Daugherty commented on TRAC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3
|
Louise Daugherty classified TRAF3 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3
|
Louise Daugherty commented on TRAF3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3IP2
|
Louise Daugherty commented on TRAF3IP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3IP2
|
Louise Daugherty classified TRAF3IP2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3IP2
|
Louise Daugherty edited their review of TRAF3IP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TREX1
|
Louise Daugherty classified TREX1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TREX1
|
Louise Daugherty commented on TREX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRNT1
|
Louise Daugherty classified TRNT1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRNT1
|
Louise Daugherty commented on TRNT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC7A
|
Louise Daugherty classified TTC7A as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC7A
|
Louise Daugherty commented on TTC7A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TYK2
|
Louise Daugherty classified TYK2 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TYK2
|
Louise Daugherty commented on TYK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC119
|
Louise Daugherty classified UNC119 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC119
|
Louise Daugherty classified UNC119 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC119
|
Louise Daugherty commented on UNC119
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty classified UNC13D as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty commented on UNC13D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty edited their review of UNC13D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC93B1
|
Louise Daugherty classified UNC93B1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC93B1
|
Louise Daugherty commented on UNC93B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
USB1
|
Louise Daugherty classified USB1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
USB1
|
Louise Daugherty commented on USB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WIPF1
|
Louise Daugherty classified WIPF1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WIPF1
|
Louise Daugherty classified WIPF1 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WIPF1
|
Louise Daugherty commented on WIPF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
XIAP
|
Louise Daugherty classified XIAP as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
XIAP
|
Louise Daugherty commented on XIAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZBTB24
|
Louise Daugherty classified ZBTB24 as Amber List (moderate evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZBTB24
|
Louise Daugherty commented on ZBTB24
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR2
|
Louise Daugherty commented on CFHR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WAS
|
Louise Daugherty edited their review of WAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RMRP
|
Louise Daugherty edited their review of RMRP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXAP
|
Louise Daugherty edited their review of RFXAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXANK
|
Louise Daugherty edited their review of RFXANK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAGT1
|
Louise Daugherty edited their review of MAGT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STK4
|
Louise Daugherty edited their review of STK4
|
|
|
Ehlers Danlos syndrome with a likely monogenic cause
|
AEBP1
|
Louise Daugherty classified AEBP1 as Green List (high evidence)
|
|
|
Ehlers Danlos syndrome with a likely monogenic cause
|
AEBP1
|
Louise Daugherty edited their review of AEBP1
|
|
|
Ehlers Danlos syndrome with a likely monogenic cause
|
AEBP1
|
Louise Daugherty commented on AEBP1
|
|
|
Adult solid tumours for rare disease
|
EXT1
|
Rachel Jones marked EXT1 as ready
|
|
|
Adult solid tumours for rare disease
|
EXT1
|
Rachel Jones classified EXT1 as Green List (high evidence)
|
|
|
Adult solid tumours for rare disease
|
EXT2
|
Rachel Jones marked EXT2 as ready
|
|
|
Adult solid tumours for rare disease
|
EXT2
|
Rachel Jones classified EXT2 as Green List (high evidence)
|
|
|
Adult solid tumours for rare disease
|
EXT2
|
Rachel Jones Added gene to panel
|
|
|
Adult solid tumours for rare disease
|
EXT1
|
Rachel Jones Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZBTB24
|
Louise Daugherty commented on ZBTB24
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZAP70
|
Louise Daugherty commented on ZAP70
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
XIAP
|
Louise Daugherty commented on XIAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WIPF1
|
Louise Daugherty commented on WIPF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WAS
|
Louise Daugherty commented on WAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
VPS13B
|
Louise Daugherty commented on VPS13B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
USB1
|
Louise Daugherty commented on USB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNG
|
Louise Daugherty commented on UNG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC93B1
|
Louise Daugherty commented on UNC93B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty commented on UNC13D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC119
|
Louise Daugherty commented on UNC119
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TYK2
|
Louise Daugherty commented on TYK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC7A
|
Louise Daugherty commented on TTC7A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC37
|
Louise Daugherty commented on TTC37
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRNT1
|
Louise Daugherty commented on TRNT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TREX1
|
Louise Daugherty commented on TREX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3IP2
|
Louise Daugherty commented on TRAF3IP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3
|
Louise Daugherty commented on TRAF3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAC
|
Louise Daugherty commented on TRAC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFSF12
|
Louise Daugherty commented on TNFSF12
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF4
|
Louise Daugherty commented on TNFRSF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF1A
|
Louise Daugherty commented on TNFRSF1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13C
|
Louise Daugherty commented on TNFRSF13C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13B
|
Louise Daugherty commented on TNFRSF13B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMEM173
|
Louise Daugherty commented on TMEM173
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC8
|
Louise Daugherty commented on TMC8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC6
|
Louise Daugherty commented on TMC6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TLR3
|
Louise Daugherty commented on TLR3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TINF2
|
Louise Daugherty commented on TINF2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TICAM1
|
Louise Daugherty commented on TICAM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
THBD
|
Louise Daugherty commented on THBD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERT
|
Louise Daugherty commented on TERT
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERC
|
Louise Daugherty commented on TERC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCN2
|
Louise Daugherty commented on TCN2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBX1
|
Louise Daugherty commented on TBX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBK1
|
Louise Daugherty commented on TBK1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAZ
|
Louise Daugherty commented on TAZ
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAPBP
|
Louise Daugherty commented on TAPBP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Louise Daugherty commented on TAP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Louise Daugherty commented on TAP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty commented on STXBP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty commented on STX11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STK4
|
Louise Daugherty commented on STK4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STIM1
|
Louise Daugherty commented on STIM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5B
|
Louise Daugherty commented on STAT5B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Louise Daugherty commented on STAT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT2
|
Louise Daugherty commented on STAT2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT1
|
Louise Daugherty commented on STAT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Louise Daugherty commented on SPINK5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Louise Daugherty commented on SP110
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Louise Daugherty commented on SMARCAL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Louise Daugherty commented on SLC46A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC37A4
|
Louise Daugherty commented on SLC37A4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Louise Daugherty commented on SLC35C1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Louise Daugherty commented on SLC29A3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH3BP2
|
Louise Daugherty commented on SH3BP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH2D1A
|
Louise Daugherty commented on SH2D1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Louise Daugherty commented on SERPING1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Louise Daugherty commented on SEMA3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SBDS
|
Louise Daugherty commented on SBDS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SAMHD1
|
Louise Daugherty commented on SAMHD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RTEL1
|
Louise Daugherty commented on RTEL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RPSA
|
Louise Daugherty commented on RPSA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF168
|
Louise Daugherty commented on RNF168
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2C
|
Louise Daugherty commented on RNASEH2C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Louise Daugherty commented on RNASEH2B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2A
|
Louise Daugherty commented on RNASEH2A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RMRP
|
Louise Daugherty commented on RMRP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RHOH
|
Louise Daugherty commented on RHOH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXAP
|
Louise Daugherty commented on RFXAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXANK
|
Louise Daugherty commented on RFXANK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFX5
|
Louise Daugherty commented on RFX5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RBCK1
|
Louise Daugherty commented on RBCK1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAG2
|
Louise Daugherty commented on RAG2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAG1
|
Louise Daugherty commented on RAG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAC2
|
Louise Daugherty commented on RAC2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAB27A
|
Louise Daugherty commented on RAB27A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PTPRC
|
Louise Daugherty commented on PTPRC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSTPIP1
|
Louise Daugherty commented on PSTPIP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSMB8
|
Louise Daugherty commented on PSMB8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKDC
|
Louise Daugherty commented on PRKDC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKCD
|
Louise Daugherty commented on PRKCD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty commented on PRF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
POLE
|
Louise Daugherty commented on POLE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PNP
|
Louise Daugherty commented on PNP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PMS2
|
Louise Daugherty commented on PMS2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PLCG2
|
Louise Daugherty commented on PLCG2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PIK3R1
|
Louise Daugherty commented on PIK3R1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PIK3CD
|
Louise Daugherty commented on PIK3CD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PGM3
|
Louise Daugherty commented on PGM3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ORAI1
|
Louise Daugherty commented on ORAI1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NRAS
|
Louise Daugherty commented on NRAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOP10
|
Louise Daugherty commented on NOP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOD2
|
Louise Daugherty commented on NOD2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP3
|
Louise Daugherty commented on NLRP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHP2
|
Louise Daugherty commented on NHP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHEJ1
|
Louise Daugherty commented on NHEJ1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKBIA
|
Louise Daugherty commented on NFKBIA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB2
|
Louise Daugherty commented on NFKB2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB1
|
Louise Daugherty commented on NFKB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF4
|
Louise Daugherty commented on NCF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF2
|
Louise Daugherty commented on NCF2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF1
|
Louise Daugherty commented on NCF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NBN
|
Louise Daugherty commented on NBN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYD88
|
Louise Daugherty commented on MYD88
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MVK
|
Louise Daugherty commented on MVK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MTHFD1
|
Louise Daugherty commented on MTHFD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Louise Daugherty commented on MS4A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Louise Daugherty commented on MRE11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MPO
|
Louise Daugherty commented on MPO
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MEFV
|
Louise Daugherty commented on MEFV
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MCM4
|
Louise Daugherty commented on MCM4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MBL2
|
Louise Daugherty commented on MBL2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP2
|
Louise Daugherty commented on MASP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MALT1
|
Louise Daugherty commented on MALT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAGT1
|
Louise Daugherty commented on MAGT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LYST
|
Louise Daugherty commented on LYST
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LRBA
|
Louise Daugherty commented on LRBA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LPIN2
|
Louise Daugherty commented on LPIN2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG4
|
Louise Daugherty commented on LIG4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Louise Daugherty commented on LIG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LCK
|
Louise Daugherty commented on LCK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LAMTOR2
|
Louise Daugherty commented on LAMTOR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KRAS
|
Louise Daugherty commented on KRAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAK3
|
Louise Daugherty commented on JAK3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAGN1
|
Louise Daugherty commented on JAGN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITK
|
Louise Daugherty commented on ITK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGB2
|
Louise Daugherty commented on ITGB2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITCH
|
Louise Daugherty commented on ITCH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ISG15
|
Louise Daugherty commented on ISG15
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF8
|
Louise Daugherty commented on IRF8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRAK4
|
Louise Daugherty commented on IRAK4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL7R
|
Louise Daugherty commented on IL7R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL36RN
|
Louise Daugherty commented on IL36RN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RG
|
Louise Daugherty commented on IL2RG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RA
|
Louise Daugherty commented on IL2RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21R
|
Louise Daugherty commented on IL21R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL1RN
|
Louise Daugherty commented on IL1RN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RA
|
Louise Daugherty commented on IL17RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17F
|
Louise Daugherty commented on IL17F
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12RB1
|
Louise Daugherty commented on IL12RB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12B
|
Louise Daugherty commented on IL12B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RB
|
Louise Daugherty commented on IL10RB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RA
|
Louise Daugherty commented on IL10RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10
|
Louise Daugherty commented on IL10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKZF1
|
Louise Daugherty commented on IKZF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKG
|
Louise Daugherty commented on IKBKG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKB
|
Louise Daugherty commented on IKBKB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGLL1
|
Louise Daugherty commented on IGLL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGKC
|
Louise Daugherty commented on IGKC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGHM
|
Louise Daugherty commented on IGHM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR2
|
Louise Daugherty commented on IFNGR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR1
|
Louise Daugherty commented on IFNGR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ICOS
|
Louise Daugherty commented on ICOS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HAX1
|
Louise Daugherty commented on HAX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GFI1
|
Louise Daugherty commented on GFI1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GATA2
|
Louise Daugherty commented on GATA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
G6PC3
|
Louise Daugherty commented on G6PC3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR1
|
Louise Daugherty commented on FPR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXP3
|
Louise Daugherty commented on FOXP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXN1
|
Louise Daugherty commented on FOXN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FERMT3
|
Louise Daugherty commented on FERMT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCN3
|
Louise Daugherty commented on FCN3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3B
|
Louise Daugherty commented on FCGR3B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3A
|
Louise Daugherty commented on FCGR3A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FASLG
|
Louise Daugherty commented on FASLG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FAS
|
Louise Daugherty commented on FAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FADD
|
Louise Daugherty commented on FADD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ELANE
|
Louise Daugherty commented on ELANE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DOCK8
|
Louise Daugherty commented on DOCK8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DNMT3B
|
Louise Daugherty commented on DNMT3B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DKC1
|
Louise Daugherty commented on DKC1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1C
|
Louise Daugherty commented on DCLRE1C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1B
|
Louise Daugherty commented on DCLRE1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBB
|
Louise Daugherty commented on CYBB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBA
|
Louise Daugherty commented on CYBA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CXCR4
|
Louise Daugherty commented on CXCR4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTSC
|
Louise Daugherty commented on CTSC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTLA4
|
Louise Daugherty commented on CTLA4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF3R
|
Louise Daugherty commented on CSF3R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF2RA
|
Louise Daugherty commented on CSF2RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CR2
|
Louise Daugherty commented on CR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CORO1A
|
Louise Daugherty commented on CORO1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CIITA
|
Louise Daugherty commented on CIITA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CHD7
|
Louise Daugherty commented on CHD7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFP
|
Louise Daugherty commented on CFP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFI
|
Louise Daugherty commented on CFI
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFH
|
Louise Daugherty commented on CFH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFD
|
Louise Daugherty commented on CFD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFB
|
Louise Daugherty commented on CFB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CEBPE
|
Louise Daugherty commented on CEBPE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD8A
|
Louise Daugherty commented on CD8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD81
|
Louise Daugherty commented on CD81
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty commented on CD79B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty commented on CD79A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD59
|
Louise Daugherty commented on CD59
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD46
|
Louise Daugherty commented on CD46
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40LG
|
Louise Daugherty commented on CD40LG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty commented on CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3G
|
Louise Daugherty commented on CD3G
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3E
|
Louise Daugherty commented on CD3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3D
|
Louise Daugherty commented on CD3D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD27
|
Louise Daugherty commented on CD27
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty commented on CD247
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD19
|
Louise Daugherty commented on CD19
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty commented on CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP10
|
Louise Daugherty commented on CASP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD9
|
Louise Daugherty commented on CARD9
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD14
|
Louise Daugherty commented on CARD14
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD11
|
Louise Daugherty commented on CARD11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C9
|
Louise Daugherty commented on C9
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8G
|
Louise Daugherty commented on C8G
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8B
|
Louise Daugherty commented on C8B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8A
|
Louise Daugherty commented on C8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C7
|
Louise Daugherty commented on C7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C6
|
Louise Daugherty commented on C6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C5
|
Louise Daugherty commented on C5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4A
|
Louise Daugherty commented on C4A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C3
|
Louise Daugherty commented on C3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C2
|
Louise Daugherty commented on C2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1S
|
Louise Daugherty commented on C1S
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1R
|
Louise Daugherty commented on C1R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QC
|
Louise Daugherty commented on C1QC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QB
|
Louise Daugherty commented on C1QB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QA
|
Louise Daugherty commented on C1QA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BTK
|
Louise Daugherty commented on BTK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLNK
|
Louise Daugherty commented on BLNK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty commented on BLM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty commented on ATM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
APOL1
|
Louise Daugherty commented on APOL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty commented on AP3B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AK2
|
Louise Daugherty commented on AK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AIRE
|
Louise Daugherty commented on AIRE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AICDA
|
Louise Daugherty commented on AICDA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAR
|
Louise Daugherty commented on ADAR
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty commented on ADA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA
|
Louise Daugherty commented on ADA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACTB
|
Louise Daugherty commented on ACTB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty commented on ACP5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZBTB24
|
Louise Daugherty commented on ZBTB24
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZAP70
|
Louise Daugherty commented on ZAP70
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
XIAP
|
Louise Daugherty commented on XIAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WIPF1
|
Louise Daugherty commented on WIPF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WAS
|
Louise Daugherty commented on WAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
VPS13B
|
Louise Daugherty commented on VPS13B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
USB1
|
Louise Daugherty commented on USB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNG
|
Louise Daugherty commented on UNG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC93B1
|
Louise Daugherty commented on UNC93B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty commented on UNC13D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC119
|
Louise Daugherty commented on UNC119
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TYK2
|
Louise Daugherty commented on TYK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC7A
|
Louise Daugherty commented on TTC7A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC37
|
Louise Daugherty commented on TTC37
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRNT1
|
Louise Daugherty commented on TRNT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TREX1
|
Louise Daugherty commented on TREX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3IP2
|
Louise Daugherty commented on TRAF3IP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3
|
Louise Daugherty commented on TRAF3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAC
|
Louise Daugherty commented on TRAC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFSF12
|
Louise Daugherty commented on TNFSF12
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF4
|
Louise Daugherty commented on TNFRSF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF1A
|
Louise Daugherty commented on TNFRSF1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13C
|
Louise Daugherty commented on TNFRSF13C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13B
|
Louise Daugherty commented on TNFRSF13B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFAIP3
|
Louise Daugherty reviewed TNFAIP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMEM173
|
Louise Daugherty commented on TMEM173
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC8
|
Louise Daugherty commented on TMC8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC6
|
Louise Daugherty commented on TMC6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TLR3
|
Louise Daugherty commented on TLR3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TIRAP
|
Louise Daugherty reviewed TIRAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TINF2
|
Louise Daugherty commented on TINF2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TICAM1
|
Louise Daugherty commented on TICAM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
THBD
|
Louise Daugherty commented on THBD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERT
|
Louise Daugherty commented on TERT
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERC
|
Louise Daugherty commented on TERC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCN2
|
Louise Daugherty commented on TCN2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCF3
|
Louise Daugherty reviewed TCF3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBX1
|
Louise Daugherty commented on TBX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBK1
|
Louise Daugherty commented on TBK1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAZ
|
Louise Daugherty commented on TAZ
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAPBP
|
Louise Daugherty commented on TAPBP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Louise Daugherty commented on TAP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Louise Daugherty commented on TAP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty commented on STXBP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty commented on STX11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STK4
|
Louise Daugherty commented on STK4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STIM1
|
Louise Daugherty commented on STIM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5B
|
Louise Daugherty commented on STAT5B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5A
|
Louise Daugherty reviewed STAT5A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Louise Daugherty commented on STAT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT2
|
Louise Daugherty commented on STAT2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT1
|
Louise Daugherty commented on STAT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Louise Daugherty commented on SPINK5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Louise Daugherty commented on SP110
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Louise Daugherty commented on SMARCAL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Louise Daugherty commented on SLC46A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC37A4
|
Louise Daugherty commented on SLC37A4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Louise Daugherty commented on SLC35C1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Louise Daugherty commented on SLC29A3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SKIV2L
|
Louise Daugherty reviewed SKIV2L
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH3BP2
|
Louise Daugherty commented on SH3BP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH2D1A
|
Louise Daugherty commented on SH2D1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Louise Daugherty commented on SERPING1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Louise Daugherty commented on SEMA3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SBDS
|
Louise Daugherty commented on SBDS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SAMHD1
|
Louise Daugherty commented on SAMHD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RTEL1
|
Louise Daugherty commented on RTEL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RPSA
|
Louise Daugherty commented on RPSA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF168
|
Louise Daugherty commented on RNF168
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2C
|
Louise Daugherty commented on RNASEH2C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Louise Daugherty commented on RNASEH2B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2A
|
Louise Daugherty commented on RNASEH2A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RMRP
|
Louise Daugherty commented on RMRP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RHOH
|
Louise Daugherty commented on RHOH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXAP
|
Louise Daugherty commented on RFXAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXANK
|
Louise Daugherty commented on RFXANK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFX5
|
Louise Daugherty commented on RFX5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RECQL4
|
Louise Daugherty reviewed RECQL4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RBCK1
|
Louise Daugherty commented on RBCK1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAG2
|
Louise Daugherty commented on RAG2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAG1
|
Louise Daugherty commented on RAG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAC2
|
Louise Daugherty commented on RAC2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAB27A
|
Louise Daugherty commented on RAB27A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PTPRC
|
Louise Daugherty commented on PTPRC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSTPIP1
|
Louise Daugherty commented on PSTPIP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSMB8
|
Louise Daugherty commented on PSMB8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKDC
|
Louise Daugherty commented on PRKDC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKCD
|
Louise Daugherty commented on PRKCD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty commented on PRF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
POLE
|
Louise Daugherty commented on POLE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PNP
|
Louise Daugherty commented on PNP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PMS2
|
Louise Daugherty commented on PMS2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PLCG2
|
Louise Daugherty commented on PLCG2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PIK3R1
|
Louise Daugherty commented on PIK3R1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PIK3CD
|
Louise Daugherty commented on PIK3CD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PGM3
|
Louise Daugherty commented on PGM3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ORAI1
|
Louise Daugherty commented on ORAI1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NRAS
|
Louise Daugherty commented on NRAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOP10
|
Louise Daugherty commented on NOP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOD2
|
Louise Daugherty commented on NOD2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP3
|
Louise Daugherty commented on NLRP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHP2
|
Louise Daugherty commented on NHP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHEJ1
|
Louise Daugherty commented on NHEJ1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKBIA
|
Louise Daugherty commented on NFKBIA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB2
|
Louise Daugherty commented on NFKB2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB1
|
Louise Daugherty commented on NFKB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF4
|
Louise Daugherty commented on NCF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF2
|
Louise Daugherty commented on NCF2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF1
|
Louise Daugherty commented on NCF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NBN
|
Louise Daugherty commented on NBN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYSM1
|
Louise Daugherty reviewed MYSM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYD88
|
Louise Daugherty commented on MYD88
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MVK
|
Louise Daugherty commented on MVK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MTHFD1
|
Louise Daugherty commented on MTHFD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSN
|
Louise Daugherty reviewed MSN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Louise Daugherty commented on MS4A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Louise Daugherty commented on MRE11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MPO
|
Louise Daugherty commented on MPO
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MEFV
|
Louise Daugherty commented on MEFV
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MCM4
|
Louise Daugherty commented on MCM4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MBL2
|
Louise Daugherty commented on MBL2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP2
|
Louise Daugherty commented on MASP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP1
|
Louise Daugherty reviewed MASP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MALT1
|
Louise Daugherty commented on MALT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAGT1
|
Louise Daugherty commented on MAGT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LYST
|
Louise Daugherty commented on LYST
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LRRC8A
|
Louise Daugherty reviewed LRRC8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LRBA
|
Louise Daugherty commented on LRBA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LPIN2
|
Louise Daugherty commented on LPIN2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG4
|
Louise Daugherty commented on LIG4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Louise Daugherty commented on LIG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LCK
|
Louise Daugherty commented on LCK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LAMTOR2
|
Louise Daugherty commented on LAMTOR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KRAS
|
Louise Daugherty commented on KRAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KMT2A
|
Louise Daugherty reviewed KMT2A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAK3
|
Louise Daugherty commented on JAK3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAGN1
|
Louise Daugherty commented on JAGN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITK
|
Louise Daugherty commented on ITK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGB2
|
Louise Daugherty commented on ITGB2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITCH
|
Louise Daugherty commented on ITCH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ISG15
|
Louise Daugherty commented on ISG15
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF8
|
Louise Daugherty commented on IRF8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRAK4
|
Louise Daugherty commented on IRAK4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL7R
|
Louise Daugherty commented on IL7R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL36RN
|
Louise Daugherty commented on IL36RN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RG
|
Louise Daugherty commented on IL2RG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RA
|
Louise Daugherty commented on IL2RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL23A
|
Louise Daugherty reviewed IL23A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21R
|
Louise Daugherty commented on IL21R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL1RN
|
Louise Daugherty commented on IL1RN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL18
|
Louise Daugherty reviewed IL18
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RA
|
Louise Daugherty commented on IL17RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17F
|
Louise Daugherty commented on IL17F
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12RB1
|
Louise Daugherty commented on IL12RB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12B
|
Louise Daugherty commented on IL12B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RB
|
Louise Daugherty commented on IL10RB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RA
|
Louise Daugherty commented on IL10RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10
|
Louise Daugherty commented on IL10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKZF1
|
Louise Daugherty commented on IKZF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKG
|
Louise Daugherty commented on IKBKG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKB
|
Louise Daugherty commented on IKBKB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGLL1
|
Louise Daugherty commented on IGLL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGKC
|
Louise Daugherty commented on IGKC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGHM
|
Louise Daugherty commented on IGHM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGHG2
|
Louise Daugherty reviewed IGHG2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR2
|
Louise Daugherty commented on IFNGR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR1
|
Louise Daugherty commented on IFNGR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ICOS
|
Louise Daugherty commented on ICOS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HAX1
|
Louise Daugherty commented on HAX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GINS1
|
Louise Daugherty reviewed GINS1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GFI1
|
Louise Daugherty commented on GFI1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GATA2
|
Louise Daugherty commented on GATA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
G6PD
|
Louise Daugherty reviewed G6PD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
G6PC3
|
Louise Daugherty commented on G6PC3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR3
|
Louise Daugherty reviewed FPR3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR2
|
Louise Daugherty reviewed FPR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR1
|
Louise Daugherty commented on FPR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXP3
|
Louise Daugherty commented on FOXP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXN1
|
Louise Daugherty commented on FOXN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FERMT3
|
Louise Daugherty commented on FERMT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCN3
|
Louise Daugherty commented on FCN3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGRT
|
Louise Daugherty reviewed FCGRT
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3B
|
Louise Daugherty commented on FCGR3B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3A
|
Louise Daugherty commented on FCGR3A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR2B
|
Louise Daugherty reviewed FCGR2B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR2A
|
Louise Daugherty reviewed FCGR2A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR1A
|
Louise Daugherty reviewed FCGR1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FASLG
|
Louise Daugherty commented on FASLG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FAS
|
Louise Daugherty commented on FAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FADD
|
Louise Daugherty commented on FADD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ELANE
|
Louise Daugherty commented on ELANE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DOCK8
|
Louise Daugherty commented on DOCK8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DNMT3B
|
Louise Daugherty commented on DNMT3B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DKC1
|
Louise Daugherty commented on DKC1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1C
|
Louise Daugherty commented on DCLRE1C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1B
|
Louise Daugherty commented on DCLRE1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBB
|
Louise Daugherty commented on CYBB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBA
|
Louise Daugherty commented on CYBA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CXCR4
|
Louise Daugherty commented on CXCR4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTSC
|
Louise Daugherty commented on CTSC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTLA4
|
Louise Daugherty commented on CTLA4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF3R
|
Louise Daugherty commented on CSF3R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF2RA
|
Louise Daugherty commented on CSF2RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CR2
|
Louise Daugherty commented on CR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CORO1A
|
Louise Daugherty edited their review of CORO1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CORO1A
|
Louise Daugherty commented on CORO1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
COLEC11
|
Louise Daugherty reviewed COLEC11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CNBP
|
Louise Daugherty reviewed CNBP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CIITA
|
Louise Daugherty commented on CIITA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CHD7
|
Louise Daugherty commented on CHD7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFP
|
Louise Daugherty commented on CFP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFI
|
Louise Daugherty commented on CFI
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFH
|
Louise Daugherty commented on CFH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFD
|
Louise Daugherty commented on CFD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFB
|
Louise Daugherty commented on CFB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CEBPE
|
Louise Daugherty commented on CEBPE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD8A
|
Louise Daugherty commented on CD8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD81
|
Louise Daugherty commented on CD81
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty commented on CD79B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty commented on CD79A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD70
|
Louise Daugherty reviewed CD70
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD59
|
Louise Daugherty commented on CD59
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD55
|
Louise Daugherty reviewed CD55
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD46
|
Louise Daugherty commented on CD46
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40LG
|
Louise Daugherty commented on CD40LG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty commented on CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD4
|
Louise Daugherty reviewed CD4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3G
|
Louise Daugherty commented on CD3G
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3E
|
Louise Daugherty commented on CD3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3D
|
Louise Daugherty commented on CD3D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD27
|
Louise Daugherty commented on CD27
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty commented on CD247
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD19
|
Louise Daugherty commented on CD19
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty commented on CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP10
|
Louise Daugherty commented on CASP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARMIL2
|
Louise Daugherty reviewed CARMIL2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD9
|
Louise Daugherty commented on CARD9
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD14
|
Louise Daugherty commented on CARD14
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD11
|
Louise Daugherty commented on CARD11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C9
|
Louise Daugherty commented on C9
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8G
|
Louise Daugherty commented on C8G
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8B
|
Louise Daugherty commented on C8B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8A
|
Louise Daugherty commented on C8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C7
|
Louise Daugherty commented on C7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C6
|
Louise Daugherty commented on C6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C5
|
Louise Daugherty commented on C5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4A
|
Louise Daugherty commented on C4A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C3
|
Louise Daugherty commented on C3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C2
|
Louise Daugherty commented on C2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1S
|
Louise Daugherty commented on C1S
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1R
|
Louise Daugherty commented on C1R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QC
|
Louise Daugherty commented on C1QC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QB
|
Louise Daugherty commented on C1QB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QA
|
Louise Daugherty commented on C1QA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BTK
|
Louise Daugherty commented on BTK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLNK
|
Louise Daugherty commented on BLNK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty commented on BLM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty commented on ATM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
APOL1
|
Louise Daugherty commented on APOL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty commented on AP3B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AK2
|
Louise Daugherty commented on AK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AIRE
|
Louise Daugherty commented on AIRE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AICDA
|
Louise Daugherty commented on AICDA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAR
|
Louise Daugherty commented on ADAR
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty commented on ADA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA
|
Louise Daugherty commented on ADA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACTB
|
Louise Daugherty commented on ACTB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty commented on ACP5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZBTB24
|
Louise Daugherty reviewed ZBTB24
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZAP70
|
Louise Daugherty reviewed ZAP70
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
XIAP
|
Louise Daugherty reviewed XIAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WIPF1
|
Louise Daugherty reviewed WIPF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WAS
|
Louise Daugherty reviewed WAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
VPS45
|
Louise Daugherty reviewed VPS45
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
VPS13B
|
Louise Daugherty reviewed VPS13B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
USB1
|
Louise Daugherty reviewed USB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNG
|
Louise Daugherty reviewed UNG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC93B1
|
Louise Daugherty reviewed UNC93B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty reviewed UNC13D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC119
|
Louise Daugherty reviewed UNC119
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TYK2
|
Louise Daugherty reviewed TYK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC7A
|
Louise Daugherty reviewed TTC7A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC37
|
Louise Daugherty reviewed TTC37
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRNT1
|
Louise Daugherty reviewed TRNT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TREX1
|
Louise Daugherty reviewed TREX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3IP2
|
Louise Daugherty reviewed TRAF3IP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3
|
Louise Daugherty reviewed TRAF3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAC
|
Louise Daugherty reviewed TRAC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TPP2
|
Louise Daugherty reviewed TPP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFSF12
|
Louise Daugherty reviewed TNFSF12
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF4
|
Louise Daugherty reviewed TNFRSF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF1A
|
Louise Daugherty reviewed TNFRSF1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13C
|
Louise Daugherty reviewed TNFRSF13C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13B
|
Louise Daugherty reviewed TNFRSF13B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMEM173
|
Louise Daugherty reviewed TMEM173
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC8
|
Louise Daugherty reviewed TMC8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC6
|
Louise Daugherty reviewed TMC6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TLR3
|
Louise Daugherty reviewed TLR3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TINF2
|
Louise Daugherty reviewed TINF2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TICAM1
|
Louise Daugherty reviewed TICAM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
THBD
|
Louise Daugherty reviewed THBD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERT
|
Louise Daugherty reviewed TERT
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERC
|
Louise Daugherty reviewed TERC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCN2
|
Louise Daugherty reviewed TCN2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCF7L1
|
Louise Daugherty reviewed TCF7L1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBX1
|
Louise Daugherty reviewed TBX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBK1
|
Louise Daugherty reviewed TBK1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAZ
|
Louise Daugherty reviewed TAZ
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAPBP
|
Louise Daugherty reviewed TAPBP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Louise Daugherty reviewed TAP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Louise Daugherty reviewed TAP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty reviewed STXBP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty reviewed STX11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STK4
|
Louise Daugherty reviewed STK4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STIM1
|
Louise Daugherty reviewed STIM1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5B
|
Louise Daugherty reviewed STAT5B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Louise Daugherty reviewed STAT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT2
|
Louise Daugherty reviewed STAT2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT1
|
Louise Daugherty reviewed STAT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Louise Daugherty reviewed SPINK5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Louise Daugherty reviewed SP110
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Louise Daugherty reviewed SMARCAL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Louise Daugherty reviewed SLC46A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC37A4
|
Louise Daugherty reviewed SLC37A4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Louise Daugherty reviewed SLC35C1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Louise Daugherty reviewed SLC29A3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH3BP2
|
Louise Daugherty reviewed SH3BP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH2D1A
|
Louise Daugherty reviewed SH2D1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Louise Daugherty reviewed SERPING1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Louise Daugherty reviewed SEMA3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SBDS
|
Louise Daugherty reviewed SBDS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SART3
|
Louise Daugherty reviewed SART3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SAMHD1
|
Louise Daugherty reviewed SAMHD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RTEL1
|
Louise Daugherty reviewed RTEL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RPSA
|
Louise Daugherty reviewed RPSA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RORC
|
Louise Daugherty reviewed RORC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF31
|
Louise Daugherty reviewed RNF31
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF168
|
Louise Daugherty reviewed RNF168
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2C
|
Louise Daugherty reviewed RNASEH2C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Louise Daugherty reviewed RNASEH2B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2A
|
Louise Daugherty reviewed RNASEH2A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RMRP
|
Louise Daugherty reviewed RMRP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RHOH
|
Louise Daugherty reviewed RHOH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXAP
|
Louise Daugherty reviewed RFXAP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXANK
|
Louise Daugherty reviewed RFXANK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFX5
|
Louise Daugherty reviewed RFX5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RBCK1
|
Louise Daugherty reviewed RBCK1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAG2
|
Louise Daugherty reviewed RAG2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAG1
|
Louise Daugherty reviewed RAG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAC2
|
Louise Daugherty reviewed RAC2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAB27A
|
Louise Daugherty reviewed RAB27A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PTPRC
|
Louise Daugherty reviewed PTPRC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSTPIP1
|
Louise Daugherty reviewed PSTPIP1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSMB8
|
Louise Daugherty reviewed PSMB8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKDC
|
Louise Daugherty reviewed PRKDC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKCD
|
Louise Daugherty reviewed PRKCD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty reviewed PRF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
POLE
|
Louise Daugherty reviewed POLE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PNP
|
Louise Daugherty reviewed PNP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PMS2
|
Louise Daugherty reviewed PMS2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PLCG2
|
Louise Daugherty reviewed PLCG2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PIK3R1
|
Louise Daugherty reviewed PIK3R1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PIK3CD
|
Louise Daugherty reviewed PIK3CD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PGM3
|
Louise Daugherty reviewed PGM3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PARN
|
Louise Daugherty reviewed PARN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ORAI1
|
Louise Daugherty reviewed ORAI1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NRAS
|
Louise Daugherty reviewed NRAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOP10
|
Louise Daugherty reviewed NOP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOD2
|
Louise Daugherty reviewed NOD2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP3
|
Louise Daugherty reviewed NLRP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP12
|
Louise Daugherty reviewed NLRP12
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRC4
|
Louise Daugherty reviewed NLRC4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHP2
|
Louise Daugherty reviewed NHP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHEJ1
|
Louise Daugherty reviewed NHEJ1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKBIA
|
Louise Daugherty reviewed NFKBIA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB2
|
Louise Daugherty reviewed NFKB2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB1
|
Louise Daugherty reviewed NFKB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFAT5
|
Louise Daugherty reviewed NFAT5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF4
|
Louise Daugherty reviewed NCF4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF2
|
Louise Daugherty reviewed NCF2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF1
|
Louise Daugherty reviewed NCF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NBN
|
Louise Daugherty reviewed NBN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYD88
|
Louise Daugherty reviewed MYD88
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MVK
|
Louise Daugherty reviewed MVK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MTHFD1
|
Louise Daugherty reviewed MTHFD1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSH6
|
Louise Daugherty reviewed MSH6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Louise Daugherty reviewed MS4A1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Louise Daugherty reviewed MRE11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MPO
|
Louise Daugherty reviewed MPO
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MOGS
|
Louise Daugherty reviewed MOGS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MEFV
|
Louise Daugherty reviewed MEFV
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MCM4
|
Louise Daugherty reviewed MCM4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MBL2
|
Louise Daugherty reviewed MBL2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP2
|
Louise Daugherty reviewed MASP2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAP3K14
|
Louise Daugherty reviewed MAP3K14
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MALT1
|
Louise Daugherty reviewed MALT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAGT1
|
Louise Daugherty reviewed MAGT1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LYST
|
Louise Daugherty reviewed LYST
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LRBA
|
Louise Daugherty reviewed LRBA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LPIN2
|
Louise Daugherty reviewed LPIN2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG4
|
Louise Daugherty reviewed LIG4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Louise Daugherty reviewed LIG1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LCK
|
Louise Daugherty reviewed LCK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LAMTOR2
|
Louise Daugherty reviewed LAMTOR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KRAS
|
Louise Daugherty reviewed KRAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAK3
|
Louise Daugherty reviewed JAK3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAGN1
|
Louise Daugherty reviewed JAGN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITK
|
Louise Daugherty reviewed ITK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGB2
|
Louise Daugherty reviewed ITGB2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGAM
|
Louise Daugherty reviewed ITGAM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITCH
|
Louise Daugherty reviewed ITCH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ISG15
|
Louise Daugherty reviewed ISG15
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF8
|
Louise Daugherty reviewed IRF8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF7
|
Louise Daugherty reviewed IRF7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRAK4
|
Louise Daugherty reviewed IRAK4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
INO80
|
Louise Daugherty reviewed INO80
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL7R
|
Louise Daugherty reviewed IL7R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL36RN
|
Louise Daugherty reviewed IL36RN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RG
|
Louise Daugherty reviewed IL2RG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RA
|
Louise Daugherty reviewed IL2RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL22
|
Louise Daugherty reviewed IL22
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21R
|
Louise Daugherty reviewed IL21R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21
|
Louise Daugherty reviewed IL21
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL1RN
|
Louise Daugherty reviewed IL1RN
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RC
|
Louise Daugherty reviewed IL17RC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RA
|
Louise Daugherty reviewed IL17RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17F
|
Louise Daugherty reviewed IL17F
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17A
|
Louise Daugherty reviewed IL17A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12RB1
|
Louise Daugherty reviewed IL12RB1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12B
|
Louise Daugherty reviewed IL12B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RB
|
Louise Daugherty reviewed IL10RB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RA
|
Louise Daugherty reviewed IL10RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10
|
Louise Daugherty reviewed IL10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKZF1
|
Louise Daugherty reviewed IKZF1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKG
|
Louise Daugherty reviewed IKBKG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKB
|
Louise Daugherty reviewed IKBKB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGLL1
|
Louise Daugherty reviewed IGLL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGKC
|
Louise Daugherty reviewed IGKC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGHM
|
Louise Daugherty reviewed IGHM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR2
|
Louise Daugherty reviewed IFNGR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR1
|
Louise Daugherty reviewed IFNGR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFIH1
|
Louise Daugherty reviewed IFIH1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ICOS
|
Louise Daugherty reviewed ICOS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HAX1
|
Louise Daugherty reviewed HAX1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GFI1
|
Louise Daugherty reviewed GFI1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GATA2
|
Louise Daugherty reviewed GATA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
G6PC3
|
Louise Daugherty reviewed G6PC3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR1
|
Louise Daugherty reviewed FPR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXP3
|
Louise Daugherty reviewed FOXP3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXN1
|
Louise Daugherty reviewed FOXN1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FERMT3
|
Louise Daugherty reviewed FERMT3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCN3
|
Louise Daugherty reviewed FCN3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3B
|
Louise Daugherty reviewed FCGR3B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3A
|
Louise Daugherty reviewed FCGR3A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FASLG
|
Louise Daugherty reviewed FASLG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FAS
|
Louise Daugherty reviewed FAS
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FADD
|
Louise Daugherty reviewed FADD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
F12
|
Louise Daugherty reviewed F12
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
EPG5
|
Louise Daugherty reviewed EPG5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ELANE
|
Louise Daugherty reviewed ELANE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DOCK8
|
Louise Daugherty reviewed DOCK8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DOCK2
|
Louise Daugherty reviewed DOCK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DNMT3B
|
Louise Daugherty reviewed DNMT3B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DKC1
|
Louise Daugherty reviewed DKC1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1C
|
Louise Daugherty reviewed DCLRE1C
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1B
|
Louise Daugherty reviewed DCLRE1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBB
|
Louise Daugherty reviewed CYBB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBA
|
Louise Daugherty reviewed CYBA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CXCR4
|
Louise Daugherty reviewed CXCR4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTSC
|
Louise Daugherty reviewed CTSC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTPS1
|
Louise Daugherty reviewed CTPS1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTLA4
|
Louise Daugherty reviewed CTLA4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF3R
|
Louise Daugherty reviewed CSF3R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF2RA
|
Louise Daugherty reviewed CSF2RA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CR2
|
Louise Daugherty reviewed CR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CORO1A
|
Louise Daugherty reviewed CORO1A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
COPA
|
Louise Daugherty reviewed COPA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CLPB
|
Louise Daugherty reviewed CLPB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CIITA
|
Louise Daugherty reviewed CIITA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CHD7
|
Louise Daugherty reviewed CHD7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFP
|
Louise Daugherty reviewed CFP
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFI
|
Louise Daugherty reviewed CFI
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR5
|
Louise Daugherty reviewed CFHR5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR4
|
Louise Daugherty reviewed CFHR4
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR3
|
Louise Daugherty reviewed CFHR3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR2
|
Louise Daugherty reviewed CFHR2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR1
|
Louise Daugherty reviewed CFHR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFH
|
Louise Daugherty reviewed CFH
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFD
|
Louise Daugherty reviewed CFD
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFB
|
Louise Daugherty reviewed CFB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CEBPE
|
Louise Daugherty reviewed CEBPE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD8A
|
Louise Daugherty reviewed CD8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD81
|
Louise Daugherty reviewed CD81
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty reviewed CD79B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty reviewed CD79A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD59
|
Louise Daugherty reviewed CD59
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD46
|
Louise Daugherty reviewed CD46
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40LG
|
Louise Daugherty reviewed CD40LG
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty reviewed CD40
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3G
|
Louise Daugherty reviewed CD3G
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3E
|
Louise Daugherty reviewed CD3E
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3D
|
Louise Daugherty reviewed CD3D
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD27
|
Louise Daugherty reviewed CD27
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty reviewed CD247
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD19
|
Louise Daugherty reviewed CD19
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CCBE1
|
Louise Daugherty reviewed CCBE1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty reviewed CASP8
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP10
|
Louise Daugherty reviewed CASP10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD9
|
Louise Daugherty reviewed CARD9
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD14
|
Louise Daugherty reviewed CARD14
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD11
|
Louise Daugherty reviewed CARD11
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C9
|
Louise Daugherty reviewed C9
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8G
|
Louise Daugherty reviewed C8G
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8B
|
Louise Daugherty reviewed C8B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8A
|
Louise Daugherty reviewed C8A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C7
|
Louise Daugherty reviewed C7
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C6
|
Louise Daugherty reviewed C6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C5
|
Louise Daugherty reviewed C5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4B
|
Louise Daugherty reviewed C4B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4A
|
Louise Daugherty reviewed C4A
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C3
|
Louise Daugherty reviewed C3
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C2
|
Louise Daugherty reviewed C2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1S
|
Louise Daugherty reviewed C1S
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1R
|
Louise Daugherty reviewed C1R
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QC
|
Louise Daugherty reviewed C1QC
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QB
|
Louise Daugherty reviewed C1QB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QA
|
Louise Daugherty reviewed C1QA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BTK
|
Louise Daugherty reviewed BTK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLOC1S6
|
Louise Daugherty reviewed BLOC1S6
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLNK
|
Louise Daugherty reviewed BLNK
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty reviewed BLM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BCL10
|
Louise Daugherty reviewed BCL10
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
B2M
|
Louise Daugherty reviewed B2M
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty reviewed ATM
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ARPC1B
|
Louise Daugherty reviewed ARPC1B
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
APOL1
|
Louise Daugherty reviewed APOL1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty reviewed AP3B1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AK2
|
Louise Daugherty reviewed AK2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AIRE
|
Louise Daugherty reviewed AIRE
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AICDA
|
Louise Daugherty reviewed AICDA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAR
|
Louise Daugherty reviewed ADAR
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAM17
|
Louise Daugherty reviewed ADAM17
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty reviewed ADA2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA
|
Louise Daugherty reviewed ADA
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACTB
|
Louise Daugherty reviewed ACTB
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty reviewed ACP5
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACD
|
Louise Daugherty reviewed ACD
|
|
|
Familial non syndromic congenital heart disease
|
NOTCH2
|
Rachel Jones marked NOTCH2 as ready
|
|
|
Familial non syndromic congenital heart disease
|
NOTCH2
|
Rachel Jones classified NOTCH2 as Green List (high evidence)
|
|
|
Familial non syndromic congenital heart disease
|
NOTCH2
|
Rachel Jones Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFAIP3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TIRAP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RECQL4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYSM1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KMT2A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL23A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL18
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGHG2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GINS1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
G6PD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGRT
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR2B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR2A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR1A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
COLEC11
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CNBP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD70
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD55
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARMIL2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZBTB24
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WIPF1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
USB1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC93B1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC119
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TYK2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC7A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRNT1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TREX1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3IP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TPP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFSF12
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF1A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13C
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMEM173
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC8
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TLR3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TINF2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TICAM1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
THBD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERT
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCF7L1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBK1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH3BP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SART3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SAMHD1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RTEL1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RPSA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RORC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF31
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF168
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2C
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RHOH
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RBCK1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSTPIP1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSMB8
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKCD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
POLE
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PMS2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PGM3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PARN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOP10
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOD2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP12
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRC4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKBIA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFAT5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NBN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MVK
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MTHFD1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSH6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MPO
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MOGS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MEFV
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MCM4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAP3K14
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MALT1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LPIN2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LCK
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LAMTOR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KRAS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAGN1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGAM
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITCH
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ISG15
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF8
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF7
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRAK4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
INO80
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL36RN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL22
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21R
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL1RN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17F
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12RB1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGKC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFIH1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GATA2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FERMT3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCN3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FADD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
F12
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DOCK2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DKC1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTSC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTPS1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF2RA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
COPA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CLPB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CHD7
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CEBPE
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD8A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD81
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD59
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD46
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CCBE1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD9
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD14
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD11
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C9
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8G
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C7
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1S
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1R
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLOC1S6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BCL10
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
B2M
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ARPC1B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
APOL1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAR
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACTB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACD
|
Louise Daugherty Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
TYK2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
SLC22A5
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
SLC22A4
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
PTPN2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
NOD2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
NLRC4
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
MUC2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
LRRK2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
JAK2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IRF5
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IL6
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IL23R
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IL12B
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
HLA-DRB1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
ATG16L1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
ABCB1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
SHANK3
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
HLA-DQA1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
TGFBR2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
TGFBR1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
STAT3
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
STAT1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
SAMD9
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
RTEL1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
RAG1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
PTEN
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
PIK3CD
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
OTULIN
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
LIG4
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
ITGB2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
G6PC3
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
DOCK8
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
CTLA4
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
COL7A1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
CD3G
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
ZAP70
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
RET
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
RAG2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
PLCG2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
PIK3R1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
NCF1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IL2RG
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IL10
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IRGM
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IL10RB
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
XIAP
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
WAS
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
STXBP2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
SLC37A4
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
SH2D1A
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
NCF4
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
NCF2
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
MVK
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
MEFV
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
LRBA
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IL2RA
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
IL10RA
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
ICOS
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
HPS6
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
HPS4
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
HPS1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
FOXP3
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
DCLRE1C
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
CYBB
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
CYBA
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
CD40LG
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
BTK
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
AICDA
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
TTC37
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
SKIV2L
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
FERMT1
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
SLC9A3
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
GUCY2C
|
Olivia Niblock Added gene to panel
|
|
|
Gastrointestinal epithelial barrier disorders
|
TTC7A
|
Olivia Niblock Added gene to panel
|
|
|
Parkinson Disease and Complex Parkinsonism
|
LYST
|
alisdair mcneill Added gene to panel
|
|
|
Parkinson Disease and Complex Parkinsonism
|
GBA
|
alisdair mcneill reviewed GBA
|
|
|
Severe early-onset obesity
|
MYT1L
|
alisdair mcneill commented on MYT1L
|
|
|
Pulmonary arterial hypertension
|
AQP1
|
Louise Daugherty edited their review of AQP1
|
|
|
Pulmonary arterial hypertension
|
AQP1
|
Louise Daugherty reviewed AQP1
|
|
|
Pulmonary arterial hypertension
|
AQP1
|
Louise Daugherty classified AQP1 as Amber List (moderate evidence)
|
|
|
Pulmonary arterial hypertension
|
GDF2
|
Louise Daugherty classified GDF2 as Amber List (moderate evidence)
|
|
|
Pulmonary arterial hypertension
|
SOX17
|
Louise Daugherty classified SOX17 as Amber List (moderate evidence)
|
|
|
Pulmonary arterial hypertension
|
SOX17
|
Louise Daugherty edited their review of SOX17
|
|
|
Pulmonary arterial hypertension
|
SOX17
|
Louise Daugherty reviewed SOX17
|
|
|
Pulmonary arterial hypertension
|
GDF2
|
Louise Daugherty edited their review of GDF2
|
|
|
Pulmonary arterial hypertension
|
GDF2
|
Louise Daugherty reviewed GDF2
|
|
|
Pulmonary arterial hypertension
|
ATP13A3
|
Louise Daugherty classified ATP13A3 as Amber List (moderate evidence)
|
|
|
Pulmonary arterial hypertension
|
ATP13A3
|
Louise Daugherty edited their review of ATP13A3
|
|
|
Pulmonary arterial hypertension
|
ATP13A3
|
Louise Daugherty reviewed ATP13A3
|
|
|
Pulmonary arterial hypertension
|
SMAD1
|
Louise Daugherty edited their review of SMAD1
|
|
|
Pulmonary arterial hypertension
|
SMAD4
|
Louise Daugherty edited their review of SMAD4
|
|
|
Pulmonary arterial hypertension
|
CAV1
|
Louise Daugherty edited their review of CAV1
|
|
|
Pulmonary arterial hypertension
|
SMAD4
|
Louise Daugherty edited their review of SMAD4
|
|
|
Pulmonary arterial hypertension
|
AQP1
|
Louise Daugherty Added gene to panel
|
|
|
Pulmonary arterial hypertension
|
SOX17
|
Louise Daugherty Added gene to panel
|
|
|
Pulmonary arterial hypertension
|
GDF2
|
Louise Daugherty Added gene to panel
|
|
|
Pulmonary arterial hypertension
|
ATP13A3
|
Louise Daugherty Added gene to panel
|
|
|
Hereditary ataxia
|
VAMP1
|
alisdair mcneill reviewed VAMP1
|
|
|
Hereditary ataxia
|
SPTBN2
|
alisdair mcneill reviewed SPTBN2
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFAIP3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TIRAP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RECQL4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYSM1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KMT2A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL23A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL18
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGHG2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GINS1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
G6PD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGRT
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR2B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR2A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR1A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
COLEC11
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CNBP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD70
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD55
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARMIL2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZBTB24
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WIPF1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
USB1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC93B1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC119
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TYK2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC7A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRNT1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TREX1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3IP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAF3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TRAC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TPP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFSF12
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF1A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13C
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMEM173
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC8
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TMC6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TLR3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TINF2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TICAM1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
THBD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERT
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TERC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCF7L1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBK1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SPINK5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SP110
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SMARCAL1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC46A1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC35C1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC29A3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH3BP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SERPING1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SEMA3E
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SART3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SAMHD1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RTEL1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RPSA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RORC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF31
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNF168
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2C
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RNASEH2A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RHOH
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RBCK1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSTPIP1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PSMB8
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKCD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
POLE
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PMS2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PGM3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PARN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOP10
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NOD2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRP12
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NLRC4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKBIA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFAT5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NBN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MVK
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MTHFD1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MSH6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MS4A1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MRE11
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MPO
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MOGS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MEFV
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MCM4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MASP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAP3K14
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MALT1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LPIN2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LCK
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LAMTOR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
KRAS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAGN1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGAM
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITCH
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ISG15
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF8
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRF7
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IRAK4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
INO80
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL36RN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL22
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21R
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL21
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL1RN
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17RA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17F
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL17A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12RB1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL12B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGKC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFNGR1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IFIH1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GATA2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FPR1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FERMT3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCN3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FADD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
F12
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DOCK2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DKC1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTSC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTPS1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF2RA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
COPA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CLPB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CHD7
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFHR1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CEBPE
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD8A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD81
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD59
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD46
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CCBE1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD9
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD14
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CARD11
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C9
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8G
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C8A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C7
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C4A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1S
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1R
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLOC1S6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLM
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BCL10
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
B2M
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ATM
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ARPC1B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
APOL1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AP3B1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAR
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACTB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACP5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ACD
|
Louise Daugherty Added gene to panel
|
|
|
Cytopenias and congenital anaemias
|
RAD51C
|
Louise Daugherty commented on RAD51C
|
|
|
Early onset or syndromic epilepsy
|
SCARB2
|
Sarah Leigh commented on SCARB2
|
|
|
Early onset or syndromic epilepsy
|
SCARB2
|
Sarah Leigh classified SCARB2 as Green List (high evidence)
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CDCA7
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HELLS
|
Louise Daugherty Added gene to panel
|
|
|
Monogenic hearing loss
|
STRC
|
Lampros Mavrogiannis reviewed STRC
|
|
|
Monogenic hearing loss
|
OTOA
|
Lampros Mavrogiannis reviewed OTOA
|
|
|
Monogenic hearing loss
|
WFS1
|
Lampros Mavrogiannis reviewed WFS1
|
|
|
Monogenic hearing loss
|
USH2A
|
Lampros Mavrogiannis reviewed USH2A
|
|
|
Monogenic hearing loss
|
USH1G
|
Lampros Mavrogiannis reviewed USH1G
|
|
|
Monogenic hearing loss
|
USH1C
|
Lampros Mavrogiannis reviewed USH1C
|
|
|
Monogenic hearing loss
|
TRIOBP
|
Lampros Mavrogiannis reviewed TRIOBP
|
|
|
Monogenic hearing loss
|
TPRN
|
Lampros Mavrogiannis reviewed TPRN
|
|
|
Monogenic hearing loss
|
TMPRSS3
|
Lampros Mavrogiannis reviewed TMPRSS3
|
|
|
Monogenic hearing loss
|
TMIE
|
Lampros Mavrogiannis reviewed TMIE
|
|
|
Early onset or syndromic epilepsy
|
RUBCN
|
Sarah Leigh Added gene to panel
|
|
|
Monogenic hearing loss
|
TMC1
|
Lampros Mavrogiannis reviewed TMC1
|
|
|
Monogenic hearing loss
|
TECTA
|
Lampros Mavrogiannis reviewed TECTA
|
|
|
Monogenic hearing loss
|
SOX10
|
Lampros Mavrogiannis reviewed SOX10
|
|
|
Early onset or syndromic epilepsy
|
RTTN
|
Sarah Leigh classified RTTN as Amber List (moderate evidence)
|
|
|
Early onset or syndromic epilepsy
|
RTTN
|
Sarah Leigh Added gene to panel
|
|
|
Monogenic hearing loss
|
SMPX
|
Lampros Mavrogiannis reviewed SMPX
|
|
|
Monogenic hearing loss
|
SLC26A4
|
Lampros Mavrogiannis reviewed SLC26A4
|
|
|
Monogenic hearing loss
|
SIX1
|
Lampros Mavrogiannis reviewed SIX1
|
|
|
Monogenic hearing loss
|
SERPINB6
|
Lampros Mavrogiannis reviewed SERPINB6
|
|
|
Monogenic hearing loss
|
RDX
|
Lampros Mavrogiannis reviewed RDX
|
|
|
Early onset or syndromic epilepsy
|
RTN4IP1
|
Sarah Leigh classified RTN4IP1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
RTN4IP1
|
Sarah Leigh Added gene to panel
|
|
|
Monogenic hearing loss
|
PRPS1
|
Lampros Mavrogiannis reviewed PRPS1
|
|
|
Monogenic hearing loss
|
POU4F3
|
Lampros Mavrogiannis reviewed POU4F3
|
|
|
Monogenic hearing loss
|
POU3F4
|
Lampros Mavrogiannis reviewed POU3F4
|
|
|
Haematological malignancies for rare disease
|
TERC
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RMRP
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
SH2B3
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RAD51
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
XRCC2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
WRAP53
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
WAS
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
UBE2T
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
TSR2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
TP53
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
TINF2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
TERT
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
STN1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
STAT3
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
SLX4
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
SH2D1A
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
SBDS
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
SAMD9L
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RUNX1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RTEL1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS7
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS29
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS28
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS27A
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS27
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS26
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS24
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS19
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS17
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS15
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPS10
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL5
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL36
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL35A
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL31
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL27
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL26
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL23
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL15
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RPL11
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
RAD51C
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
PTPN11
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
PRF1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
PMS2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
PAX5
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
PARN
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
PALB2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
NOP10
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
NHP2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
NF1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
NBN
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
NAF1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
MSH6
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
MSH2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
MLH1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
MAD2L2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
LIG4
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
ITK
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
HAX1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
GBA
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
GATA2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
GATA1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FAS
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCM
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCL
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCI
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCG
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCF
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCE
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCD2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCC
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCB
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
FANCA
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
ETV6
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
ERCC4
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
ELANE
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
DOCK8
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
DKC1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
DDX41
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
CTC1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
CEBPA
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
CBL
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
BRIP1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
BRCA2
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
BRCA1
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
BLM
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
ATM
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
ANKRD26
|
Ellen McDonagh Added gene to panel
|
|
|
Haematological malignancies for rare disease
|
ACD
|
Ellen McDonagh Added gene to panel
|
|
|
Monogenic hearing loss
|
PCDH15
|
Lampros Mavrogiannis reviewed PCDH15
|
|
|
Monogenic hearing loss
|
PAX3
|
Lampros Mavrogiannis reviewed PAX3
|
|
|
Monogenic hearing loss
|
P2RX2
|
Lampros Mavrogiannis reviewed P2RX2
|
|
|
Monogenic hearing loss
|
OTOG
|
Lampros Mavrogiannis reviewed OTOG
|
|
|
Monogenic hearing loss
|
OTOF
|
Lampros Mavrogiannis reviewed OTOF
|
|
|
Monogenic hearing loss
|
MYO7A
|
Lampros Mavrogiannis reviewed MYO7A
|
|
|
Monogenic hearing loss
|
MYO6
|
Lampros Mavrogiannis reviewed MYO6
|
|
|
Monogenic hearing loss
|
MYO3A
|
Lampros Mavrogiannis reviewed MYO3A
|
|
|
Monogenic hearing loss
|
MYO15A
|
Lampros Mavrogiannis reviewed MYO15A
|
|
|
Monogenic hearing loss
|
MYH9
|
Lampros Mavrogiannis reviewed MYH9
|
|
|
Monogenic hearing loss
|
MYH14
|
Lampros Mavrogiannis reviewed MYH14
|
|
|
Monogenic hearing loss
|
MSRB3
|
Lampros Mavrogiannis reviewed MSRB3
|
|
|
Monogenic hearing loss
|
MITF
|
Lampros Mavrogiannis reviewed MITF
|
|
|
Monogenic hearing loss
|
MARVELD2
|
Lampros Mavrogiannis reviewed MARVELD2
|
|
|
Monogenic hearing loss
|
LRTOMT
|
Lampros Mavrogiannis reviewed LRTOMT
|
|
|
Monogenic hearing loss
|
LOXHD1
|
Lampros Mavrogiannis reviewed LOXHD1
|
|
|
Monogenic hearing loss
|
LHFPL5
|
Lampros Mavrogiannis reviewed LHFPL5
|
|
|
Monogenic hearing loss
|
LARS2
|
Lampros Mavrogiannis reviewed LARS2
|
|
|
Monogenic hearing loss
|
KCNQ4
|
Lampros Mavrogiannis reviewed KCNQ4
|
|
|
Monogenic hearing loss
|
KCNQ1
|
Lampros Mavrogiannis reviewed KCNQ1
|
|
|
Monogenic hearing loss
|
KCNE1
|
Lampros Mavrogiannis reviewed KCNE1
|
|
|
Monogenic hearing loss
|
KARS
|
Lampros Mavrogiannis reviewed KARS
|
|
|
Monogenic hearing loss
|
ILDR1
|
Lampros Mavrogiannis reviewed ILDR1
|
|
|
Monogenic hearing loss
|
HSD17B4
|
Lampros Mavrogiannis reviewed HSD17B4
|
|
|
Monogenic hearing loss
|
GRXCR1
|
Lampros Mavrogiannis reviewed GRXCR1
|
|
|
Monogenic hearing loss
|
GRHL2
|
Lampros Mavrogiannis reviewed GRHL2
|
|
|
Monogenic hearing loss
|
GPSM2
|
Lampros Mavrogiannis reviewed GPSM2
|
|
|
Monogenic hearing loss
|
GJB2
|
Lampros Mavrogiannis reviewed GJB2
|
|
|
Early onset or syndromic epilepsy
|
PRMT7
|
Sarah Leigh classified PRMT7 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
PRMT7
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PIGN
|
Sarah Leigh classified PIGN as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
PIGN
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PIGH
|
Sarah Leigh Added gene to panel
|
|
|
Limb disorders
|
SOX9
|
Ellen McDonagh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
OTUD6B
|
Sarah Leigh classified OTUD6B as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
OTUD6B
|
Sarah Leigh Added gene to panel
|
|
|
Monogenic hearing loss
|
GIPC3
|
Lampros Mavrogiannis reviewed GIPC3
|
|
|
Monogenic hearing loss
|
EYA4
|
Lampros Mavrogiannis reviewed EYA4
|
|
|
Monogenic hearing loss
|
EYA1
|
Lampros Mavrogiannis reviewed EYA1
|
|
|
Monogenic hearing loss
|
ESRRB
|
Lampros Mavrogiannis reviewed ESRRB
|
|
|
Monogenic hearing loss
|
EDNRB
|
Lampros Mavrogiannis reviewed EDNRB
|
|
|
Monogenic hearing loss
|
EDN3
|
Lampros Mavrogiannis reviewed EDN3
|
|
|
Monogenic hearing loss
|
DFNB59
|
Lampros Mavrogiannis reviewed DFNB59
|
|
|
Early onset or syndromic epilepsy
|
MED17
|
Sarah Leigh Added gene to panel
|
|
|
Monogenic hearing loss
|
DFNA5
|
Lampros Mavrogiannis reviewed DFNA5
|
|
|
Monogenic hearing loss
|
COCH
|
Lampros Mavrogiannis reviewed COCH
|
|
|
Monogenic hearing loss
|
CLRN1
|
Lampros Mavrogiannis reviewed CLRN1
|
|
|
Monogenic hearing loss
|
CLPP
|
Lampros Mavrogiannis reviewed CLPP
|
|
|
Monogenic hearing loss
|
CLDN14
|
Lampros Mavrogiannis reviewed CLDN14
|
|
|
Monogenic hearing loss
|
CIB2
|
Lampros Mavrogiannis reviewed CIB2
|
|
|
Monogenic hearing loss
|
CDH23
|
Lampros Mavrogiannis reviewed CDH23
|
|
|
Early onset or syndromic epilepsy
|
MBOAT7
|
Sarah Leigh classified MBOAT7 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
MBOAT7
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MAF
|
Sarah Leigh classified MAF as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
MAF
|
Sarah Leigh Added gene to panel
|
|
|
Monogenic hearing loss
|
ACTG1
|
Lampros Mavrogiannis reviewed ACTG1
|
|
|
Monogenic hearing loss
|
WHRN
|
Lampros Mavrogiannis reviewed WHRN
|
|
|
Early onset or syndromic epilepsy
|
KPTN
|
Sarah Leigh classified KPTN as Amber List (moderate evidence)
|
|
|
Early onset or syndromic epilepsy
|
KPTN
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCTD7
|
Sarah Leigh commented on KCTD7
|
|
|
Early onset or syndromic epilepsy
|
KCTD7
|
Sarah Leigh classified KCTD7 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
KCNC1
|
Sarah Leigh commented on KCNC1
|
|
|
Early onset or syndromic epilepsy
|
KCNC1
|
Sarah Leigh classified KCNC1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
HECW2
|
Sarah Leigh classified HECW2 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
HECW2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
FAR1
|
Sarah Leigh classified FAR1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
HACE1
|
Sarah Leigh classified HACE1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
HACE1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
FAR1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
DHX30
|
Sarah Leigh classified DHX30 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
DHX30
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CSNK1G1
|
Sarah Leigh reviewed CSNK1G1
|
|
|
Early onset or syndromic epilepsy
|
CNNM2
|
Sarah Leigh classified CNNM2 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
CNNM2
|
Sarah Leigh Added gene to panel
|
|
|
Limb disorders
|
SMOC1
|
Ellen McDonagh classified SMOC1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
CNKSR2
|
Sarah Leigh classified CNKSR2 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
CNKSR2
|
Sarah Leigh Added gene to panel
|
|
|
Limb disorders
|
SMOC1
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
PORCN
|
Ellen McDonagh classified PORCN as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
CLN8
|
Sarah Leigh edited their review of CLN8
|
|
|
Limb disorders
|
PORCN
|
Ellen McDonagh classified PORCN as Red List (low evidence)
|
|
|
Limb disorders
|
PORCN
|
Ellen McDonagh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CLN8
|
Sarah Leigh classified CLN8 as Green List (high evidence)
|
|
|
Limb disorders
|
TRPV4
|
Ellen McDonagh classified TRPV4 as Green List (high evidence)
|
|
|
Limb disorders
|
TRPV4
|
Ellen McDonagh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CLCN2
|
Sarah Leigh edited their review of CLCN2
|
|
|
Limb disorders
|
SLC26A2
|
Ellen McDonagh classified SLC26A2 as Green List (high evidence)
|
|
|
Limb disorders
|
SLC26A2
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
PRMT7
|
Ellen McDonagh classified PRMT7 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
BRAT1
|
Sarah Leigh edited their review of BRAT1
|
|
|
Early onset or syndromic epilepsy
|
BRAT1
|
Sarah Leigh classified BRAT1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
BRAT1
|
Sarah Leigh Added gene to panel
|
|
|
Limb disorders
|
PRMT7
|
Ellen McDonagh classified PRMT7 as Red List (low evidence)
|
|
|
Limb disorders
|
PRMT7
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
PDE3A
|
Ellen McDonagh classified PDE3A as Green List (high evidence)
|
|
|
Limb disorders
|
PDE3A
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
SLC25A21
|
Ellen McDonagh classified SLC25A21 as Red List (low evidence)
|
|
|
Limb disorders
|
SLC25A21
|
Ellen McDonagh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TSC1
|
Sarah Leigh edited their review of TSC1
|
|
|
Limb disorders
|
MIPOL1
|
Ellen McDonagh marked MIPOL1 as ready
|
|
|
Limb disorders
|
MIPOL1
|
Ellen McDonagh classified MIPOL1 as Red List (low evidence)
|
|
|
Limb disorders
|
MIPOL1
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
ZNF141
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
KIAA0586
|
Ellen McDonagh classified KIAA0586 as Amber List (moderate evidence)
|
|
|
Limb disorders
|
KIAA0586
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
IQCE
|
Ellen McDonagh marked IQCE as ready
|
|
|
Limb disorders
|
IQCE
|
Ellen McDonagh classified IQCE as Red List (low evidence)
|
|
|
Early onset or syndromic epilepsy
|
ALDH7A1
|
Sarah Leigh classified ALDH7A1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
ALDH7A1
|
Sarah Leigh reviewed ALDH7A1
|
|
|
Limb disorders
|
IQCE
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
NEK1
|
Ellen McDonagh classified NEK1 as Green List (high evidence)
|
|
|
Limb disorders
|
NEK1
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
DYNC2H1
|
Ellen McDonagh classified DYNC2H1 as Amber List (moderate evidence)
|
|
|
Limb disorders
|
DYNC2H1
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
IFT43
|
Ellen McDonagh classified IFT43 as Amber List (moderate evidence)
|
|
|
Early onset or syndromic epilepsy
|
CPA6
|
Sarah Leigh reviewed CPA6
|
|
|
Limb disorders
|
IFT43
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
COL2A1
|
Ellen McDonagh classified COL2A1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
CPA6
|
Sarah Leigh classified CPA6 as Green List (high evidence)
|
|
|
Limb disorders
|
COL2A1
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
CHSY1
|
Ellen McDonagh classified CHSY1 as Green List (high evidence)
|
|
|
Limb disorders
|
CHSY1
|
Ellen McDonagh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
LGI1
|
Sarah Leigh commented on LGI1
|
|
|
Early onset or syndromic epilepsy
|
LGI1
|
Sarah Leigh classified LGI1 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
DEPDC5
|
Sarah Leigh classified DEPDC5 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
DEPDC5
|
Sarah Leigh reviewed DEPDC5
|
|
|
Early onset or syndromic epilepsy
|
CHRNB2
|
Sarah Leigh classified CHRNB2 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
CHRNA4
|
Sarah Leigh classified CHRNA4 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
CHRNA2
|
Sarah Leigh classified CHRNA2 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
CHRNA2
|
Sarah Leigh commented on CHRNA2
|
|
|
Early onset or syndromic epilepsy
|
EFTUD2
|
Sarah Leigh Added gene to panel
|
|
|
Skeletal dysplasia
|
SFRP4
|
Ellen McDonagh classified SFRP4 as Green List (high evidence)
|
|
|
Limb disorders
|
SFRP4
|
Ellen McDonagh classified SFRP4 as Green List (high evidence)
|
|
|
Limb disorders
|
FGF9
|
Ellen McDonagh classified FGF9 as Amber List (moderate evidence)
|
|
|
Limb disorders
|
FGD1
|
Ellen McDonagh classified FGD1 as Amber List (moderate evidence)
|
|
|
Limb disorders
|
SFRP4
|
Ellen McDonagh classified SFRP4 as Amber List (moderate evidence)
|
|
|
Limb disorders
|
SFRP4
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
DVL2
|
Ellen McDonagh commented on DVL2
|
|
|
Skeletal dysplasia
|
SFRP4
|
Ellen McDonagh classified SFRP4 as Amber List (moderate evidence)
|
|
|
Skeletal dysplasia
|
SFRP4
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
DVL3
|
Sarah Leigh classified DVL3 as Green List (high evidence)
|
|
|
Limb disorders
|
FGD1
|
Olivia Niblock reviewed FGD1
|
|
|
Intellectual disability
|
DVL3
|
Sarah Leigh classified DVL3 as Red List (low evidence)
|
|
|
Limb disorders
|
MIR17HG
|
Sarah Leigh classified MIR17HG as Amber List (moderate evidence)
|
|
|
Skeletal dysplasia
|
FBLN1
|
Sarah Leigh classified FBLN1 as Amber List (moderate evidence)
|
|
|
Skeletal dysplasia
|
FBLN1
|
Sarah Leigh edited their review of FBLN1
|
|
|
Limb disorders
|
FBLN1
|
Sarah Leigh edited their review of FBLN1
|
|
|
Limb disorders
|
FBLN1
|
Sarah Leigh classified FBLN1 as Amber List (moderate evidence)
|
|
|
Limb disorders
|
POLL
|
Eleanor Williams edited their review of POLL
|
|
|
Limb disorders
|
LRP4
|
Louise Daugherty classified LRP4 as Green List (high evidence)
|
|
|
Limb disorders
|
POLL
|
Eleanor Williams classified POLL as Red List (low evidence)
|
|
|
Limb disorders
|
LRP4
|
Louise Daugherty edited their review of LRP4
|
|
|
Limb disorders
|
LRP4
|
Louise Daugherty commented on LRP4
|
|
|
Limb disorders
|
LRP4
|
Louise Daugherty Added gene to panel
|
|
|
Limb disorders
|
FGF9
|
Olivia Niblock reviewed FGF9
|
|
|
Limb disorders
|
FMN1
|
Louise Daugherty reviewed FMN1
|
|
|
Limb disorders
|
EFTUD2
|
Sarah Leigh edited their review of EFTUD2
|
|
|
Limb disorders
|
NOTCH1
|
Louise Daugherty classified NOTCH1 as Green List (high evidence)
|
|
|
Limb disorders
|
EFTUD2
|
Sarah Leigh classified EFTUD2 as Green List (high evidence)
|
|
|
Limb disorders
|
DVL2
|
Sarah Leigh commented on DVL2
|
|
|
Limb disorders
|
DLL4
|
Sarah Leigh commented on DLL4
|
|
|
Limb disorders
|
GREM1
|
Olivia Niblock reviewed GREM1
|
|
|
Limb disorders
|
BMP2
|
Ellen McDonagh classified BMP2 as Amber List (moderate evidence)
|
|
|
CAKUT
|
GREM1
|
Olivia Niblock reviewed GREM1
|
|
|
Limb disorders
|
DLL4
|
Sarah Leigh classified DLL4 as Green List (high evidence)
|
|
|
Limb disorders
|
SHH
|
Sarah Leigh edited their review of SHH
|
|
|
Limb disorders
|
DLX5
|
Louise Daugherty reviewed DLX5
|
|
|
Limb disorders
|
SEM1
|
Louise Daugherty edited their review of SEM1
|
|
|
Limb disorders
|
SEM1
|
Louise Daugherty commented on SEM1
|
|
|
Limb disorders
|
DLX6
|
Louise Daugherty edited their review of DLX6
|
|
|
Limb disorders
|
DLX6
|
Louise Daugherty reviewed DLX6
|
|
|
Limb disorders
|
TRAPPC2
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
ORC1
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
POLL
|
Ellen McDonagh Added gene to panel
|
|
|
Limb disorders
|
BTRC
|
Ellen McDonagh classified BTRC as Amber List (moderate evidence)
|
|
|
Limb disorders
|
BTRC
|
Ellen McDonagh classified BTRC as Red List (low evidence)
|
|
|
Early onset or syndromic epilepsy
|
TBC1D24
|
Sarah Leigh commented on TBC1D24
|
|
|
Early onset or syndromic epilepsy
|
TBC1D24
|
Sarah Leigh classified TBC1D24 as Green List (high evidence)
|
|
|
Severe microcephaly
|
WDR4
|
Ellen McDonagh edited their review of WDR4
|
|
|
Intellectual disability
|
WDR4
|
Ellen McDonagh commented on WDR4
|
|
|
Early onset or syndromic epilepsy
|
SCN9A
|
Sarah Leigh classified SCN9A as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
SCN9A
|
Sarah Leigh reviewed SCN9A
|
|
|
Intellectual disability
|
WDR4
|
Ellen McDonagh edited their review of WDR4
|
|
|
Intellectual disability
|
WDR4
|
Ellen McDonagh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GLRA1
|
Ellen McDonagh reviewed GLRA1
|
|
|
Intellectual disability
|
GLRA1
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
PIGH
|
Ellen McDonagh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GABRG2
|
Sarah Leigh classified GABRG2 as Green List (high evidence)
|
|
|
Early onset or syndromic epilepsy
|
ADGRV1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
NEDD4L
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
FTL
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CPA6
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CNTN2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CLCN2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CASR
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CACNA1G
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TSC2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TPP1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TBL1XR1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TBC1D24
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ST3GAL3
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SRPX2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SMS
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC6A8
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC6A5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SCN9A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SCN2B
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SCARB2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
RYR3
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PRICKLE2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PRICKLE1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PPT1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PNPO
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PIGQ
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PCDH12
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
NRXN1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
NHLRC1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
NECAP1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MT-TL1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MOCS2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MOCS1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MFSD8
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MAGI2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
LGI1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCTD7
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNMA1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNC1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNA1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
HLCS
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GPHN
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GOSR2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GLRB
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GLRA1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GATM
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GATAD2B
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GAMT
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GABRG2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GABRD
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
EPM2A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
EFHC1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
EEF1A2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
DEPDC5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CTSD
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CSTB
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CSNK1G1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CRH
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
COL4A2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
COL4A1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CLN8
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CLN6
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CLN5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CLN3
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CHRNB2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CHRNA4
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CHRNA2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CCDC88C
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CBL
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CASK
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CACNB4
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CACNA1H
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CACNA1A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
BTD
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ATP1A2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
AP3B2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ALDH7A1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ABAT
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TSC1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
HAX1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ATP6AP2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ZEB2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
WWOX
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
WDR45B
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
WDR45
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
UBE3A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
UBE2A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TRPM6
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TRAK1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
TCF4
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SZT2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SYNJ1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SYNGAP1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SUOX
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
STXBP1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
STX1B
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SPTAN1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC9A6
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC6A19
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC6A1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC35A2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC2A1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC25A22
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC25A1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC1A2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC16A2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC13A5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SLC12A5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SIK1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SETD5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SCN8A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SCN2A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SCN1B
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
SCN1A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
RANBP2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
QARS
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PURA
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PRRT2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PRODH
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
POLG
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PNKP
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PLCB1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PIGT
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PIGA
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PCDH19
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
NACC1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MTOR
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MOGS
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MFF
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MEF2C
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MECP2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MDH2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MBD5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
MAPK10
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNT1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNQ3
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNQ2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNJ10
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNB1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KCNA2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ITPA
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
IQSEC2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
IER3IP1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
IDH2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
HTRA2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
HNRNPU
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
HNRNPH2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
HMGCL
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
HCN1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GSS
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GRIN2B
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GRIN2A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GRIN1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GPAA1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GNAO1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GLYCTK
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GABRB3
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GABRA1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
GABBR2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
FOXG1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
EPG5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
EML1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
EHMT1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
DYRK1A
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
DPYD
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
DOCK7
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
DNM1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
DIAPH1
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CYFIP2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CNTNAP2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CLTC
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CIC
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CHD2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CDKL5
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
CACNA1D
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
BSCL2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ATRX
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ATP6V0A2
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ATP1A3
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ARX
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ARHGEF9
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ALG13
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ALG11
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
ADSL
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
PLPBP
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
NEXMIF
|
Sarah Leigh Added gene to panel
|
|
|
Early onset or syndromic epilepsy
|
KIF1BP
|
Sarah Leigh Added gene to panel
|
|
|
Ehlers Danlos syndrome with a likely monogenic cause
|
AEBP1
|
Sarah Leigh classified AEBP1 as Amber List (moderate evidence)
|
|
|
Ehlers Danlos syndrome with a likely monogenic cause
|
AEBP1
|
Louise Daugherty classified AEBP1 as Amber List (moderate evidence)
|
|
|
Ehlers Danlos syndrome with a likely monogenic cause
|
AEBP1
|
Sarah Leigh classified AEBP1 as Green List (high evidence)
|
|
|
Ehlers Danlos syndrome with a likely monogenic cause
|
AEBP1
|
Sarah Leigh Added gene to panel
|
|
|
Additional findings health related
|
VHL
|
Ellen McDonagh classified VHL as Green List (high evidence)
|
|
|
Additional findings health related
|
RET
|
Ellen McDonagh classified RET as Green List (high evidence)
|
|
|
Additional findings health related
|
PCSK9
|
Ellen McDonagh classified PCSK9 as Green List (high evidence)
|
|
|
Additional findings health related
|
MUTYH
|
Ellen McDonagh classified MUTYH as Green List (high evidence)
|
|
|
Additional findings health related
|
MSH6
|
Ellen McDonagh classified MSH6 as Green List (high evidence)
|
|
|
Additional findings health related
|
MSH2
|
Ellen McDonagh classified MSH2 as Green List (high evidence)
|
|
|
Additional findings health related
|
MLH1
|
Ellen McDonagh classified MLH1 as Green List (high evidence)
|
|
|
Additional findings health related
|
MEN1
|
Ellen McDonagh classified MEN1 as Green List (high evidence)
|
|
|
Additional findings health related
|
LDLR
|
Ellen McDonagh classified LDLR as Green List (high evidence)
|
|
|
Additional findings health related
|
CFTR
|
Ellen McDonagh classified CFTR as Green List (high evidence)
|
|
|
Additional findings health related
|
CFTR
|
Ellen McDonagh marked CFTR as ready
|
|
|
Additional findings health related
|
BRCA2
|
Ellen McDonagh classified BRCA2 as Green List (high evidence)
|
|
|
Additional findings health related
|
BRCA1
|
Ellen McDonagh classified BRCA1 as Green List (high evidence)
|
|
|
Additional findings health related
|
APOB
|
Ellen McDonagh classified APOB as Green List (high evidence)
|
|
|
Additional findings health related
|
APC
|
Ellen McDonagh classified APC as Green List (high evidence)
|
|
|
Additional findings health related
|
VHL
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
RET
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
PCSK9
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
MUTYH
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
MSH6
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
MSH2
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
MLH1
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
MEN1
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
LDLR
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
CFTR
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
BRCA2
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
BRCA1
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
APOB
|
Ellen McDonagh Added gene to panel
|
|
|
Additional findings health related
|
APC
|
Ellen McDonagh Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
XIAP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNC13D
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAPBP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAP1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STXBP2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STX11
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SKIV2L
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SH2D1A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RET
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAB27A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRF1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NRAS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NCF1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYO5B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LYST
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LRBA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITGB2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10RA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL10
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKBKG
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HPS6
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HPS4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HPS1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GUCY2C
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXP3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FASLG
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FAS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
EPCAM
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CYBA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40LG
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD40
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3G
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP8
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CASP10
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AIRE
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADAM17
|
Louise Daugherty Added gene to panel
|
|
|
Retinal disorders
|
AGBL5
|
Ellen McDonagh classified AGBL5 as Green List (high evidence)
|
|
|
Retinal disorders
|
AGBL5
|
Ellen McDonagh classified AGBL5 as Amber List (moderate evidence)
|
|
|
Monogenic hearing loss
|
FGFR1
|
Ellen McDonagh commented on FGFR1
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ZAP70
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
WAS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
VPS45
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
VPS13B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
UNG
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TTC37
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TNFRSF13B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCN2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TCF3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TBX1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
TAZ
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STK4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STIM1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
STAT5B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SLC37A4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SGPL1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
SBDS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RMRP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXAP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFXANK
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RFX5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RELB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAG2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAG1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
RAC2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PTPRC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PRKDC
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PNP
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PLCG2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PIK3R1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
PIK3CD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ORAI1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NHEJ1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
NFKB2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MYD88
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MBL2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
MAGT1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LRRC8A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LIG4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
LAT
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
JAK3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ITK
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL7R
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IL2RG
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IKZF1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGLL1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
IGHM
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ICOS
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HTRA2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
HAX1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GFI1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GATA1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
GAD1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
G6PC3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FOXN1
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
FCGR3B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
EXTL3
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
EPG5
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ELF4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ELANE
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DOCK8
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DNMT3B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
DCLRE1C
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CXCR4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CTLA4
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CSF3R
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CR2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CORO1A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CIITA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFI
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFH
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CFD
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79B
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD79A
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3E
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD3D
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD27
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD247
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
CD19
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
C1QB
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BTK
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
BLNK
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AK2
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
AICDA
|
Louise Daugherty Added gene to panel
|
|
|
Primary immunodeficiency or monogenic inflammatory bowel disease
|
ADA
|
Louise Daugherty Added gene to panel
|
|
|
Familial Meniere Disease
|
|
Eleanor Williams promoted panel to version 1.0
|
|
|
Familial Meniere Disease
|
WFS1
|
Eleanor Williams edited their review of WFS1
|
|
|
Familial Meniere Disease
|
WFS1
|
Eleanor Williams classified WFS1 as Red List (low evidence)
|
|
|
Idiopathic ventricular fibrillation
|
|
Louise Daugherty promoted panel to version 1.0
|
|
|
Familial Meniere Disease
|
MARVELD2
|
Eleanor Williams marked MARVELD2 as ready
|
|
|
Familial Meniere Disease
|
MARVELD2
|
Eleanor Williams classified MARVELD2 as Red List (low evidence)
|
|
|
Familial Meniere Disease
|
PTPN22
|
Eleanor Williams marked PTPN22 as ready
|
|
|
Familial Meniere Disease
|
PRKCB
|
Eleanor Williams marked PRKCB as ready
|
|
|
Familial Meniere Disease
|
PRKCB
|
Eleanor Williams edited their review of PRKCB
|
|
|
Familial Meniere Disease
|
PRKCB
|
Eleanor Williams classified PRKCB as Amber List (moderate evidence)
|
|
|
Familial Meniere Disease
|
NFKB1
|
Eleanor Williams marked NFKB1 as ready
|
|
|
Familial Meniere Disease
|
NFKB1
|
Eleanor Williams classified NFKB1 as Red List (low evidence)
|
|
|
Rare multisystem ciliopathy disorders
|
C21orf59
|
Louise Daugherty commented on C21orf59
|
|
|
Primary ciliary disorders
|
C21orf59
|
Louise Daugherty commented on C21orf59
|
|
|
Hypogonadotropic hypogonadism
|
HFE2
|
Louise Daugherty commented on HFE2
|
|
|
Undiagnosed metabolic disorders
|
HFE2
|
Louise Daugherty commented on HFE2
|
|
|
Dilated Cardiomyopathy and conduction defects
|
HFE2
|
Louise Daugherty commented on HFE2
|
|
|
Cytopenias and congenital anaemias
|
HFE2
|
Louise Daugherty commented on HFE2
|
|
|
Diabetes with additional phenotypes suggestive of a monogenic aetiology
|
HFE2
|
Louise Daugherty commented on HFE2
|
|
|
Cerebellar hypoplasia
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Malformations of cortical development
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Undiagnosed metabolic disorders
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Hydrocephalus
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Arthrogryposis
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Cerebral vascular malformations
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Bilateral congenital or childhood onset cataracts
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Congenital disorders of glycosylation
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Congenital muscular dystrophy
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Familial Neural Tube Defects
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Intellectual disability
|
TMEM5
|
Louise Daugherty commented on TMEM5
|
|
|
Familial Neural Tube Defects
|
T
|
Louise Daugherty commented on T
|
|
|
Currarino triad
|
T
|
Louise Daugherty commented on T
|
|
|
Mitochondrial disorders
|
ATP5O
|
Louise Daugherty commented on ATP5O
|
|
|
Mitochondrial disorders
|
ATP5G3
|
Louise Daugherty commented on ATP5G3
|
|
|
Mitochondrial disorders
|
ATP5G2
|
Louise Daugherty commented on ATP5G2
|
|
|
Mitochondrial disorders
|
ATP5A1
|
Louise Daugherty commented on ATP5A1
|
|
|
Undiagnosed metabolic disorders
|
ATP5A1
|
Louise Daugherty commented on ATP5A1
|
|
|
Mitochondrial disorders
|
ATP5C1
|
Louise Daugherty commented on ATP5C1
|
|
|
Undiagnosed metabolic disorders
|
ATP5E
|
Louise Daugherty commented on ATP5E
|
|
|
Mitochondrial disorders
|
ATP5E
|
Louise Daugherty commented on ATP5E
|
|
|
Hypertrophic cardiomyopathy
|
ATP5E
|
Louise Daugherty commented on ATP5E
|
|
|
Mitochondrial disorders
|
ATP5G1
|
Louise Daugherty commented on ATP5G1
|
|
|
Mitochondrial disorders
|
ATP5I
|
Louise Daugherty commented on ATP5I
|
|
|
Mitochondrial disorders
|
ATP5J
|
Louise Daugherty commented on ATP5J
|
|
|
Mitochondrial disorders
|
ATP5B
|
Louise Daugherty commented on ATP5B
|
|
|
Intellectual disability
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Ocular coloboma
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Primary ciliary disorders
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Thoracic dystrophies
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Retinal disorders
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Rare multisystem ciliopathy disorders
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Cystic kidney disease
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Clefting
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Unexplained kidney failure in young people
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Glaucoma (developmental)
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Skeletal dysplasia
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Intellectual disability
|
C5orf42
|
Louise Daugherty commented on C5orf42
|
|
|
Familial Meniere Disease
|
HLA-DRB1
|
Eleanor Williams marked HLA-DRB1 as ready
|
|
|
Familial Meniere Disease
|
HLA-DRB1
|
Eleanor Williams classified HLA-DRB1 as Red List (low evidence)
|
|
|
Familial Meniere Disease
|
FAM136A
|
Eleanor Williams marked FAM136A as ready
|
|
|
Familial Meniere Disease
|
FAM136A
|
Eleanor Williams classified FAM136A as Amber List (moderate evidence)
|
|
|
Familial Meniere Disease
|
FAM136A
|
Eleanor Williams edited their review of FAM136A
|
|
|
Familial Meniere Disease
|
DTNA
|
Eleanor Williams marked DTNA as ready
|
|
|
Familial Meniere Disease
|
DTNA
|
Eleanor Williams classified DTNA as Amber List (moderate evidence)
|
|
|
Familial Meniere Disease
|
DTNA
|
Eleanor Williams edited their review of DTNA
|
|
|
Haematological malignancies cancer susceptibility
|
TERC
|
Ellen McDonagh classified TERC as Red List (low evidence)
|
|
|
Haematological malignancies cancer susceptibility
|
RMRP
|
Ellen McDonagh classified RMRP as Red List (low evidence)
|
|
|
Hereditary ataxia
|
MVK
|
Sarah Leigh edited their review of MVK
|
|
|
Hereditary ataxia
|
MVK
|
Sarah Leigh classified MVK as Amber List (moderate evidence)
|
|
|
Hereditary ataxia
|
MVK
|
Sarah Leigh Added gene to panel
|
|
|
Hereditary ataxia
|
GPAA1
|
Sarah Leigh classified GPAA1 as Green List (high evidence)
|
|
|
Hereditary ataxia
|
GPAA1
|
Sarah Leigh Added gene to panel
|
|
|
Inherited white matter disorders
|
NDUFAF3
|
Sarah Leigh edited their review of NDUFAF3
|
|
|
Inherited white matter disorders
|
NDUFAF3
|
Sarah Leigh classified NDUFAF3 as Green List (high evidence)
|
|
|
Inherited white matter disorders
|
NDUFAF3
|
Sarah Leigh Added gene to panel
|
|
|
Intellectual disability
|
MVK
|
Sarah Leigh classified MVK as Green List (high evidence)
|
|
|
Familial Meniere Disease
|
DPT
|
Eleanor Williams marked DPT as ready
|
|
|
Familial Meniere Disease
|
DPT
|
Eleanor Williams classified DPT as Amber List (moderate evidence)
|
|
|
Familial Meniere Disease
|
DIAPH1
|
Eleanor Williams marked DIAPH1 as ready
|
|
|
Familial Meniere Disease
|
CACNA1A
|
Eleanor Williams marked CACNA1A as ready
|
|
|
Early onset dystonia
|
NDUFA12
|
Sarah Leigh Added gene to panel
|
|
|
Familial Meniere Disease
|
AQP4
|
Eleanor Williams marked AQP4 as ready
|
|
|
Familial Meniere Disease
|
AQP4
|
Eleanor Williams classified AQP4 as Red List (low evidence)
|
|
|
Intellectual disability
|
|
Ellen McDonagh promoted panel to version 2.0
|
|
|
Intellectual disability
|
NHP2
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
NEB
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
NDUFAF3
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
NDUFA9
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
NDUFA10
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
NADK2
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
MYH10
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
MTTP
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
MTMR14
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
CLCNKA
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
HIST1H4C
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
NT5C2
|
Ellen McDonagh classified NT5C2 as Green List (high evidence)
|
|
|
Intellectual disability
|
NONO
|
Ellen McDonagh classified NONO as Green List (high evidence)
|
|
|
Intellectual disability
|
MBOAT7
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
KIAA1109
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
CLTC
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
CDH11
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
RUBCN
|
Olivia Niblock edited their review of RUBCN
|
|
|
Intellectual disability
|
NOP56
|
Louise Daugherty commented on NOP56
|
|
|
Intellectual disability
|
NIPA1
|
Louise Daugherty commented on NIPA1
|
|
|
Intellectual disability
|
NHLRC1
|
Louise Daugherty commented on NHLRC1
|
|
|
Intellectual disability
|
NEFL
|
Louise Daugherty commented on NEFL
|
|
|
Intellectual disability
|
NDRG1
|
Louise Daugherty commented on NDRG1
|
|
|
Intellectual disability
|
NDN
|
Sarah Leigh edited their review of NDN
|
|
|
Intellectual disability
|
MTMR2
|
Louise Daugherty commented on MTMR2
|
|
|
Intellectual disability
|
MT-ND1
|
Louise Daugherty commented on MT-ND1
|
|
|
Intellectual disability
|
MRE11
|
Louise Daugherty commented on MRE11
|
|
|
Intellectual disability
|
NT5C2
|
Louise Daugherty commented on NT5C2
|
|
|
Intellectual disability
|
NONO
|
Louise Daugherty commented on NONO
|
|
|
Intellectual disability
|
LARGE1
|
Louise Daugherty commented on LARGE1
|
|
|
Familial Meniere Disease
|
COCH
|
Eleanor Williams marked COCH as ready
|
|
|
Clefting
|
MED25
|
Louise Daugherty commented on MED25
|
|
|
Severe microcephaly
|
MRE11
|
Louise Daugherty classified MRE11 as Amber List (moderate evidence)
|
|
|
Severe microcephaly
|
MRE11
|
Louise Daugherty edited their review of MRE11
|
|
|
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
|
MRE11
|
Louise Daugherty edited their review of MRE11
|
|
|
Severe microcephaly
|
MRE11
|
Louise Daugherty Added gene to panel
|
|
|
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
|
MRE11
|
Louise Daugherty classified MRE11 as Amber List (moderate evidence)
|
|
|
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
|
MRE11
|
Louise Daugherty Added gene to panel
|
|
|
Skeletal dysplasia
|
MIR17HG
|
Louise Daugherty classified MIR17HG as Amber List (moderate evidence)
|
|
|
Skeletal dysplasia
|
MIR17HG
|
Louise Daugherty commented on MIR17HG
|
|
|
Skeletal dysplasia
|
MIR17HG
|
Louise Daugherty edited their review of MIR17HG
|
|
|
Skeletal dysplasia
|
MIR17HG
|
Louise Daugherty edited their review of MIR17HG
|
|
|
VACTERL-like phenotypes
|
MIR17HG
|
Louise Daugherty classified MIR17HG as Amber List (moderate evidence)
|
|
|
VACTERL-like phenotypes
|
MIR17HG
|
Louise Daugherty edited their review of MIR17HG
|
|
|
VACTERL-like phenotypes
|
MIR17HG
|
Louise Daugherty edited their review of MIR17HG
|
|
|
VACTERL-like phenotypes
|
MIR17HG
|
Louise Daugherty commented on MIR17HG
|
|
|
VACTERL-like phenotypes
|
MIR17HG
|
Louise Daugherty commented on MIR17HG
|
|
|
Intellectual disability
|
KMT2C
|
Eleanor Williams commented on KMT2C
|
|
|
RASopathies
|
LZTR1
|
Andrea Haworth reviewed LZTR1
|
|
|
Congenital disorders of glycosylation
|
COG5
|
Eleanor Williams commented on COG5
|
|
|
Hereditary ataxia
|
COG5
|
Eleanor Williams classified COG5 as Amber List (moderate evidence)
|
|
|
Hereditary ataxia
|
COG5
|
Eleanor Williams Added gene to panel
|
|
|
Familial Meniere Disease
|
WFS1
|
Jose Antonio Lopez-Escamez reviewed WFS1
|
|
|
Intellectual disability
|
AKAP6
|
Louise Daugherty edited their review of AKAP6
|
|
|
Intellectual disability
|
AKAP6
|
Louise Daugherty Added gene to panel
|
|
|
Adult solid tumours for rare disease
|
|
Ellen McDonagh promoted panel to version 1.0
|
|
|
Mitochondrial disorders
|
MDH2
|
Eleanor Williams classified MDH2 as Green List (high evidence)
|
|
|
Mitochondrial disorders
|
MDH2
|
Eleanor Williams Added gene to panel
|
|
|
Unexplained kidney failure in young people
|
COQ8B
|
Ellen McDonagh edited their review of COQ8B
|
|
|
Unexplained kidney failure in young people
|
COQ8B
|
Ellen McDonagh marked COQ8B as ready
|
|
|
Unexplained kidney failure in young people
|
COQ8B
|
Ellen McDonagh classified COQ8B as Green List (high evidence)
|
|
|
Unexplained kidney failure in young people
|
COQ8B
|
Ellen McDonagh Added gene to panel
|
|
|
Intellectual disability
|
MYBPC1
|
Sarah Leigh classified MYBPC1 as Red List (low evidence)
|
|
|
Osteogenesis imperfecta
|
FAM46A
|
Sarah Leigh reviewed FAM46A
|
|
|
Osteogenesis imperfecta
|
FAM46A
|
Sarah Leigh classified FAM46A as Green List (high evidence)
|
|
|
Adult solid tumours for rare disease
|
AIP
|
Helen Brittain marked AIP as ready
|
|
|
Adult solid tumours for rare disease
|
AIP
|
Helen Brittain classified AIP as Green List (high evidence)
|
|
|
Adult solid tumours for rare disease
|
AIP
|
Helen Brittain Added gene to panel
|
|
|
Intellectual disability
|
SETD1A
|
Louise Daugherty edited their review of SETD1A
|
|
|
Intellectual disability
|
SETD1A
|
Louise Daugherty classified SETD1A as Amber List (moderate evidence)
|
|
|
Intellectual disability
|
SETD1A
|
Louise Daugherty classified SETD1A as Amber List (moderate evidence)
|
|
|
Familial Meniere Disease
|
MARVELD2
|
Jose Antonio Lopez-Escamez Added gene to panel
|
|
|
Familial Meniere Disease
|
PTPN22
|
Jose Antonio Lopez-Escamez commented on PTPN22
|
|
|
Familial Meniere Disease
|
NFKB1
|
Jose Antonio Lopez-Escamez reviewed NFKB1
|
|
|
Familial Meniere Disease
|
HLA-DRB1
|
Jose Antonio Lopez-Escamez reviewed HLA-DRB1
|
|
|
Familial Meniere Disease
|
DTNA
|
Jose Antonio Lopez-Escamez reviewed DTNA
|
|
|
Familial Meniere Disease
|
FAM136A
|
Jose Antonio Lopez-Escamez reviewed FAM136A
|
|
|
Familial Meniere Disease
|
PRKCB
|
Jose Antonio Lopez-Escamez reviewed PRKCB
|
|
|
Familial Meniere Disease
|
DPT
|
Jose Antonio Lopez-Escamez reviewed DPT
|
|
|
Familial Meniere Disease
|
AQP4
|
Jose Antonio Lopez-Escamez reviewed AQP4
|
|
|
Familial Meniere Disease
|
COCH
|
Jose Antonio Lopez-Escamez reviewed COCH
|
|
|
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
|
HIST1H1E
|
Louise Daugherty commented on HIST1H1E
|
|
|
Familial Meniere Disease
|
CACNA1A
|
Georgios Korres reviewed CACNA1A
|
|
|
Intellectual disability
|
MYT1L
|
Louise Daugherty classified MYT1L as Green List (high evidence)
|
|
|
Familial Meniere Disease
|
COCH
|
Eleanor Williams edited their review of COCH
|
|
|
Familial Meniere Disease
|
COCH
|
Eleanor Williams commented on COCH
|
|
|
Familial Meniere Disease
|
PRKCB
|
Eleanor Williams edited their review of PRKCB
|
|
|
Familial Meniere Disease
|
FAM136A
|
Eleanor Williams edited their review of FAM136A
|
|
|
Familial Meniere Disease
|
COCH
|
Eleanor Williams commented on COCH
|
|
|
Familial Meniere Disease
|
COCH
|
Eleanor Williams edited their review of COCH
|
|
|
Osteogenesis imperfecta
|
CREB3L1
|
BRIDGE consortium reviewed CREB3L1
|
|
|
Osteogenesis imperfecta
|
FAM46A
|
Raymond Dalgleish Added gene to panel
|
|
|
Osteogenesis imperfecta
|
CREB3L1
|
Sarah Leigh classified CREB3L1 as Amber List (moderate evidence)
|
|
|
Familial Meniere Disease
|
DTNA
|
Eleanor Williams commented on DTNA
|
|
|
Osteogenesis imperfecta
|
TNXB
|
Raymond Dalgleish commented on TNXB
|
|
|
Inherited bleeding disorders
|
ORAI1
|
Sarah Leigh classified ORAI1 as Amber List (moderate evidence)
|
|
|
Skeletal dysplasia
|
LTBP3
|
Sarah Leigh classified LTBP3 as Green List (high evidence)
|
|
|
Skeletal dysplasia
|
LTBP3
|
Sarah Leigh Added gene to panel
|
|
|
Hereditary ataxia
|
CLCN2
|
Sarah Leigh classified CLCN2 as Green List (high evidence)
|
|
|
Hereditary ataxia
|
CLCN2
|
Sarah Leigh Added gene to panel
|
|
|
Hydrocephalus
|
KIAA1109
|
Sarah Leigh classified KIAA1109 as Green List (high evidence)
|
|
|
Hydrocephalus
|
KIAA1109
|
Sarah Leigh Added gene to panel
|
|
|
Arthrogryposis
|
KIAA1109
|
Sarah Leigh classified KIAA1109 as Green List (high evidence)
|
|
|
Arthrogryposis
|
KIAA1109
|
Sarah Leigh Added gene to panel
|
|
|
Intellectual disability
|
MYT1L
|
alisdair mcneill reviewed MYT1L
|
|
|
Intellectual disability
|
SETD1A
|
David Curtis reviewed SETD1A
|
|
|
Haematological malignancies cancer susceptibility
|
RPS27A
|
Sarah Leigh edited their review of RPS27A
|
|
|
Haematological malignancies cancer susceptibility
|
RPS27A
|
Sarah Leigh reviewed RPS27A
|
|
|
Intellectual disability
|
GRIN1
|
Louise Daugherty edited their review of GRIN1
|
|
|
Intellectual disability
|
GRIN1
|
Louise Daugherty classified GRIN1 as Green List (high evidence)
|
|
|
Amelogenesis imperfecta
|
|
Sarah Leigh promoted panel to version 1.0
|
|
|
Amelogenesis imperfecta
|
CLDN16
|
Sarah Leigh classified CLDN16 as Amber List (moderate evidence)
|
|
|
Amelogenesis imperfecta
|
CLDN16
|
Sarah Leigh marked CLDN16 as ready
|
|
|
Amelogenesis imperfecta
|
CLDN19
|
Sarah Leigh marked CLDN19 as ready
|
|
|
Amelogenesis imperfecta
|
CLDN19
|
Sarah Leigh classified CLDN19 as Amber List (moderate evidence)
|
|
|
Intellectual disability
|
A2ML1
|
Louise Daugherty edited their review of A2ML1
|
|
|
Intellectual disability
|
A2ML1
|
Louise Daugherty classified A2ML1 as Red List (low evidence)
|
|
|
Intellectual disability
|
A2ML1
|
Louise Daugherty classified A2ML1 as Red List (low evidence)
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Familial Meniere Disease
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COCH
|
Ellen McDonagh marked COCH as ready
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Haematological malignancies cancer susceptibility
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RAD51
|
Ellen McDonagh marked RAD51 as ready
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Haematological malignancies cancer susceptibility
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RAD51
|
Ellen McDonagh classified RAD51 as Amber List (moderate evidence)
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Haematological malignancies cancer susceptibility
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SH2B3
|
Ellen McDonagh marked SH2B3 as ready
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Haematological malignancies cancer susceptibility
|
SH2B3
|
Ellen McDonagh classified SH2B3 as Amber List (moderate evidence)
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Childhood solid tumours cancer susceptibility
|
SH2B3
|
Ellen McDonagh classified SH2B3 as No list
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Familial Meniere Disease
|
COCH
|
Georgios Korres reviewed COCH
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Familial Meniere Disease
|
PRKCB
|
Georgios Korres reviewed PRKCB
|
|
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Familial Meniere Disease
|
FAM136A
|
Georgios Korres reviewed FAM136A
|
|
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Familial Meniere Disease
|
DTNA
|
Georgios Korres reviewed DTNA
|
|
|
Familial Meniere Disease
|
PRKCB
|
Maria Bitner-Glindzicz reviewed PRKCB
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|
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Familial Meniere Disease
|
DTNA
|
Maria Bitner-Glindzicz reviewed DTNA
|
|
|
Familial Meniere Disease
|
FAM136A
|
Maria Bitner-Glindzicz reviewed FAM136A
|
|
|
Familial Meniere Disease
|
DIAPH1
|
Maria Bitner-Glindzicz reviewed DIAPH1
|
|
|
Familial Meniere Disease
|
WFS1
|
Maria Bitner-Glindzicz reviewed WFS1
|
|
|
Familial Meniere Disease
|
COCH
|
Maria Bitner-Glindzicz reviewed COCH
|
|
|
Familial Meniere Disease
|
CXCL8
|
Eleanor Williams commented on CXCL8
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|
|
Familial Meniere Disease
|
WFS1
|
Eleanor Williams Added gene to panel
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|
|
Familial Meniere Disease
|
VHL
|
Eleanor Williams Added gene to panel
|
|
|
Familial Meniere Disease
|
VCAM1
|
Eleanor Williams Added gene to panel
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|
|
Familial Meniere Disease
|
TNIP1
|
Eleanor Williams Added gene to panel
|
|
|
Familial Meniere Disease
|
TNFRSF1A
|
Eleanor Williams Added gene to panel
|
|
|
Familial Meniere Disease
|
TNFAIP3
|
Eleanor Williams Added gene to panel
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