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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)
Familial Meniere Disease COCH Ellen McDonagh marked COCH as ready
Haematological malignancies cancer susceptibility RAD51 Ellen McDonagh marked RAD51 as ready
Haematological malignancies cancer susceptibility RAD51 Ellen McDonagh classified RAD51 as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility SH2B3 Ellen McDonagh marked SH2B3 as ready
Haematological malignancies cancer susceptibility SH2B3 Ellen McDonagh classified SH2B3 as Amber List (moderate evidence)
Childhood solid tumours cancer susceptibility SH2B3 Ellen McDonagh classified SH2B3 as No list
Familial Meniere Disease COCH Georgios Korres reviewed COCH
Familial Meniere Disease PRKCB Georgios Korres reviewed PRKCB
Familial Meniere Disease FAM136A Georgios Korres reviewed FAM136A
Familial Meniere Disease DTNA Georgios Korres reviewed DTNA
Familial Meniere Disease PRKCB Maria Bitner-Glindzicz reviewed PRKCB
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
Familial Meniere Disease WFS1 Eleanor Williams Added gene to panel
Familial Meniere Disease VHL Eleanor Williams Added gene to panel
Familial Meniere Disease VCAM1 Eleanor Williams Added gene to panel
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
Familial Meniere Disease TNF Eleanor Williams Added gene to panel
Familial Meniere Disease TLR9 Eleanor Williams Added gene to panel
Familial Meniere Disease TLR8 Eleanor Williams Added gene to panel
Familial Meniere Disease TLR7 Eleanor Williams Added gene to panel
Familial Meniere Disease TLR4 Eleanor Williams Added gene to panel
Familial Meniere Disease TLR3 Eleanor Williams Added gene to panel
Familial Meniere Disease TLR2 Eleanor Williams Added gene to panel
Familial Meniere Disease TLR10 Eleanor Williams Added gene to panel
Familial Meniere Disease TFB1M Eleanor Williams Added gene to panel
Familial Meniere Disease STAT3 Eleanor Williams Added gene to panel
Familial Meniere Disease SOD2 Eleanor Williams Added gene to panel
Familial Meniere Disease SLC8A1 Eleanor Williams Added gene to panel
Familial Meniere Disease SLC26A4 Eleanor Williams Added gene to panel
Familial Meniere Disease SLC12A2 Eleanor Williams Added gene to panel
Familial Meniere Disease SIK1 Eleanor Williams Added gene to panel
Familial Meniere Disease SEMA3D Eleanor Williams Added gene to panel
Familial Meniere Disease RELA Eleanor Williams Added gene to panel
Familial Meniere Disease REL Eleanor Williams Added gene to panel
Familial Meniere Disease PTPN22 Eleanor Williams Added gene to panel
Familial Meniere Disease PTGS2 Eleanor Williams Added gene to panel
Familial Meniere Disease PRKCB Eleanor Williams Added gene to panel
Familial Meniere Disease POU4F3 Eleanor Williams Added gene to panel
Familial Meniere Disease PON2 Eleanor Williams Added gene to panel
Familial Meniere Disease PON1 Eleanor Williams Added gene to panel
Familial Meniere Disease PARP1 Eleanor Williams Added gene to panel
Familial Meniere Disease NPR3 Eleanor Williams Added gene to panel
Familial Meniere Disease NPR2 Eleanor Williams Added gene to panel
Familial Meniere Disease NPR1 Eleanor Williams Added gene to panel
Familial Meniere Disease NOTCH3 Eleanor Williams Added gene to panel
Familial Meniere Disease NOTCH2 Eleanor Williams Added gene to panel
Familial Meniere Disease NOS3 Eleanor Williams Added gene to panel
Familial Meniere Disease NOS2 Eleanor Williams Added gene to panel
Familial Meniere Disease NFKBIA Eleanor Williams Added gene to panel
Familial Meniere Disease NFKB1 Eleanor Williams Added gene to panel
Familial Meniere Disease NDUFS2 Eleanor Williams Added gene to panel
Familial Meniere Disease NAGA Eleanor Williams Added gene to panel
Familial Meniere Disease MYD88 Eleanor Williams Added gene to panel
Familial Meniere Disease MTRR Eleanor Williams Added gene to panel
Familial Meniere Disease MTR Eleanor Williams Added gene to panel
Familial Meniere Disease MTNR1B Eleanor Williams Added gene to panel
Familial Meniere Disease MTHFR Eleanor Williams Added gene to panel
Familial Meniere Disease MRPS12 Eleanor Williams Added gene to panel
Familial Meniere Disease MMP9 Eleanor Williams Added gene to panel
Familial Meniere Disease MIF Eleanor Williams Added gene to panel
Familial Meniere Disease MICA Eleanor Williams Added gene to panel
Familial Meniere Disease LTF Eleanor Williams Added gene to panel
Familial Meniere Disease KCNQ4 Eleanor Williams Added gene to panel
Familial Meniere Disease KCNQ1 Eleanor Williams Added gene to panel
Familial Meniere Disease KCNE3 Eleanor Williams Added gene to panel
Familial Meniere Disease KCNE1 Eleanor Williams Added gene to panel
Familial Meniere Disease KCNA5 Eleanor Williams Added gene to panel
Familial Meniere Disease KCNA4 Eleanor Williams Added gene to panel
Familial Meniere Disease KCNA1 Eleanor Williams Added gene to panel
Familial Meniere Disease IRF7 Eleanor Williams Added gene to panel
Familial Meniere Disease CXCL8 Eleanor Williams Added gene to panel
Familial Meniere Disease IL6 Eleanor Williams Added gene to panel
Familial Meniere Disease IL2RA Eleanor Williams Added gene to panel
Familial Meniere Disease IL2 Eleanor Williams Added gene to panel
Familial Meniere Disease IL1R1 Eleanor Williams Added gene to panel
Familial Meniere Disease IL1B Eleanor Williams Added gene to panel
Familial Meniere Disease IL1A Eleanor Williams Added gene to panel
Familial Meniere Disease IL18 Eleanor Williams Added gene to panel
Familial Meniere Disease IL10 Eleanor Williams Added gene to panel
Familial Meniere Disease IFNG Eleanor Williams Added gene to panel
Familial Meniere Disease ICAM1 Eleanor Williams Added gene to panel
Familial Meniere Disease HSPA1A Eleanor Williams Added gene to panel
Familial Meniere Disease HLA-DRB5 Eleanor Williams Added gene to panel
Familial Meniere Disease HLA-DRB1 Eleanor Williams Added gene to panel
Familial Meniere Disease HLA-DQA1 Eleanor Williams Added gene to panel
Familial Meniere Disease HLA-DPA2 Eleanor Williams Added gene to panel
Familial Meniere Disease HLA-C Eleanor Williams Added gene to panel
Familial Meniere Disease HLA-B Eleanor Williams Added gene to panel
Familial Meniere Disease HLA-A Eleanor Williams Added gene to panel
Familial Meniere Disease HCFC1 Eleanor Williams Added gene to panel
Familial Meniere Disease GPX5 Eleanor Williams Added gene to panel
Familial Meniere Disease GPX4 Eleanor Williams Added gene to panel
Familial Meniere Disease GPX1 Eleanor Williams Added gene to panel
Familial Meniere Disease GJB6 Eleanor Williams Added gene to panel
Familial Meniere Disease GJB3 Eleanor Williams Added gene to panel
Familial Meniere Disease FOXP3 Eleanor Williams Added gene to panel
Familial Meniere Disease FOS Eleanor Williams Added gene to panel
Familial Meniere Disease FLNA Eleanor Williams Added gene to panel
Familial Meniere Disease FCHO2 Eleanor Williams Added gene to panel
Familial Meniere Disease FCHO1 Eleanor Williams Added gene to panel
Familial Meniere Disease FAM136A Eleanor Williams Added gene to panel
Familial Meniere Disease ESR2 Eleanor Williams Added gene to panel
Familial Meniere Disease ESR1 Eleanor Williams Added gene to panel
Familial Meniere Disease DTNA Eleanor Williams Added gene to panel
Familial Meniere Disease DPT Eleanor Williams Added gene to panel
Familial Meniere Disease DIAPH1 Eleanor Williams Added gene to panel
Familial Meniere Disease DEFB1 Eleanor Williams Added gene to panel
Familial Meniere Disease CXCL9 Eleanor Williams Added gene to panel
Familial Meniere Disease CXCL10 Eleanor Williams Added gene to panel
Familial Meniere Disease CXCL1 Eleanor Williams Added gene to panel
Familial Meniere Disease CTLA4 Eleanor Williams Added gene to panel
Familial Meniere Disease CSF2 Eleanor Williams Added gene to panel
Familial Meniere Disease COCH Eleanor Williams Added gene to panel
Familial Meniere Disease CHGA Eleanor Williams Added gene to panel
Familial Meniere Disease CGA Eleanor Williams Added gene to panel
Familial Meniere Disease CD86 Eleanor Williams Added gene to panel
Familial Meniere Disease CD80 Eleanor Williams Added gene to panel
Familial Meniere Disease CD40 Eleanor Williams Added gene to panel
Familial Meniere Disease CD4 Eleanor Williams Added gene to panel
Familial Meniere Disease CD276 Eleanor Williams Added gene to panel
Familial Meniere Disease CCR5 Eleanor Williams Added gene to panel
Familial Meniere Disease CCND1 Eleanor Williams Added gene to panel
Familial Meniere Disease CCL5 Eleanor Williams Added gene to panel
Familial Meniere Disease CCL4 Eleanor Williams Added gene to panel
Familial Meniere Disease CCL2 Eleanor Williams Added gene to panel
Familial Meniere Disease CAV1 Eleanor Williams Added gene to panel
Familial Meniere Disease CASP3 Eleanor Williams Added gene to panel
Familial Meniere Disease CACNA1A Eleanor Williams Added gene to panel
Familial Meniere Disease AVPR2 Eleanor Williams Added gene to panel
Familial Meniere Disease AR Eleanor Williams Added gene to panel
Familial Meniere Disease AQP6 Eleanor Williams Added gene to panel
Familial Meniere Disease AQP5 Eleanor Williams Added gene to panel
Familial Meniere Disease AQP4 Eleanor Williams Added gene to panel
Familial Meniere Disease AQP3 Eleanor Williams Added gene to panel
Familial Meniere Disease AQP2 Eleanor Williams Added gene to panel
Familial Meniere Disease AQP1 Eleanor Williams Added gene to panel
Familial Meniere Disease ADD3 Eleanor Williams Added gene to panel
Familial Meniere Disease ADD2 Eleanor Williams Added gene to panel
Familial Meniere Disease ADD1 Eleanor Williams Added gene to panel
Intellectual disability PIK3CA Louise Daugherty edited their review of PIK3CA
Intellectual disability AMER1 Helen Brittain edited their review of AMER1
Amelogenesis imperfecta LTBP3 Sarah Leigh marked LTBP3 as ready
Amelogenesis imperfecta SLC13A5 Sarah Leigh marked SLC13A5 as ready
Amelogenesis imperfecta SLC13A5 Sarah Leigh classified SLC13A5 as Green List (high evidence)
Amelogenesis imperfecta TUFT1 Sarah Leigh reviewed TUFT1
Amelogenesis imperfecta ROGDI Sarah Leigh marked ROGDI as ready
Amelogenesis imperfecta ROGDI Sarah Leigh classified ROGDI as Green List (high evidence)
Intellectual disability SHOX Louise Daugherty reviewed SHOX
Intellectual disability SHOX Louise Daugherty commented on SHOX
Intellectual disability WNT5A Ellen McDonagh classified WNT5A as Red List (low evidence)
Intellectual disability VDR Ellen McDonagh classified VDR as Red List (low evidence)
Intellectual disability TCOF1 Ellen McDonagh classified TCOF1 as Red List (low evidence)
Intellectual disability SMARCAL1 Ellen McDonagh classified SMARCAL1 as Red List (low evidence)
Intellectual disability SLC2A10 Ellen McDonagh classified SLC2A10 as Red List (low evidence)
Intellectual disability SF3B4 Ellen McDonagh classified SF3B4 as Red List (low evidence)
Intellectual disability SALL1 Ellen McDonagh classified SALL1 as Amber List (moderate evidence)
Intellectual disability RYR1 Ellen McDonagh classified RYR1 as Red List (low evidence)
Intellectual disability RET Ellen McDonagh classified RET as Red List (low evidence)
Intellectual disability RECQL4 Ellen McDonagh classified RECQL4 as Red List (low evidence)
Intellectual disability RBM8A Ellen McDonagh classified RBM8A as Red List (low evidence)
Intellectual disability PIEZO2 Ellen McDonagh classified PIEZO2 as Red List (low evidence)
Intellectual disability PRKAR1A Ellen McDonagh classified PRKAR1A as Red List (low evidence)
Intellectual disability PAX2 Ellen McDonagh classified PAX2 as Red List (low evidence)
Intellectual disability P3H1 Ellen McDonagh classified P3H1 as Red List (low evidence)
Intellectual disability MYH3 Ellen McDonagh classified MYH3 as Red List (low evidence)
Intellectual disability MYO7A Ellen McDonagh classified MYO7A as Red List (low evidence)
Intellectual disability MPV17 Ellen McDonagh classified MPV17 as Red List (low evidence)
Intellectual disability MEGF8 Ellen McDonagh classified MEGF8 as Red List (low evidence)
Intellectual disability MEGF10 Ellen McDonagh classified MEGF10 as Red List (low evidence)
Intellectual disability LYST Ellen McDonagh classified LYST as Red List (low evidence)
Intellectual disability GLUD1 Ellen McDonagh classified GLUD1 as Red List (low evidence)
Intellectual disability GABBR2 Ellen McDonagh classified GABBR2 as Amber List (moderate evidence)
Intellectual disability FTO Ellen McDonagh classified FTO as Amber List (moderate evidence)
Intellectual disability FTL Ellen McDonagh classified FTL as Amber List (moderate evidence)
Intellectual disability EGR2 Ellen McDonagh classified EGR2 as Red List (low evidence)
Intellectual disability FGD4 Ellen McDonagh classified FGD4 as Red List (low evidence)
Intellectual disability FBXO7 Ellen McDonagh classified FBXO7 as Red List (low evidence)
Intellectual disability FBN2 Ellen McDonagh classified FBN2 as Red List (low evidence)
Intellectual disability EXT1 Ellen McDonagh classified EXT1 as Red List (low evidence)
Intellectual disability EFNB1 Ellen McDonagh classified EFNB1 as Red List (low evidence)
Intellectual disability DDR2 Ellen McDonagh classified DDR2 as Red List (low evidence)
Intellectual disability COL6A3 Ellen McDonagh classified COL6A3 as Red List (low evidence)
Intellectual disability COL11A2 Ellen McDonagh classified COL11A2 as Red List (low evidence)
Intellectual disability BRIP1 Ellen McDonagh classified BRIP1 as Red List (low evidence)
Intellectual disability BIN1 Ellen McDonagh classified BIN1 as Red List (low evidence)
Intellectual disability AGK Ellen McDonagh classified AGK as Red List (low evidence)
Intellectual disability PLOD1 Ellen McDonagh classified PLOD1 as Red List (low evidence)
Intellectual disability SETD1A Ellen McDonagh Added gene to panel
Intellectual disability RAB11B Ellen McDonagh Added gene to panel
Intellectual disability HMGB3 Ellen McDonagh Added gene to panel
Intellectual disability FKBP6 Ellen McDonagh Added gene to panel
Intellectual disability FBXO8 Ellen McDonagh Added gene to panel
Intellectual disability CDK19 Ellen McDonagh Added gene to panel
Intellectual disability RBPJ Ellen McDonagh Added gene to panel
Intellectual disability FBXW4 Ellen McDonagh Added gene to panel
Intellectual disability CARS2 Ellen McDonagh Added gene to panel
Intellectual disability SLC20A2 Louise Daugherty commented on SLC20A2
Intellectual disability SIGMAR1 Louise Daugherty commented on SIGMAR1
Intellectual disability SH3TC2 Louise Daugherty commented on SH3TC2
Intellectual disability SGCE Louise Daugherty commented on SGCE
Intellectual disability SETX Louise Daugherty commented on SETX
Intellectual disability SCN9A Louise Daugherty commented on SCN9A
Intellectual disability SCARB2 Louise Daugherty commented on SCARB2
Intellectual disability SBF2 Louise Daugherty commented on SBF2
Intellectual disability SALL1 Louise Daugherty commented on SALL1
Intellectual disability SACS Louise Daugherty commented on SACS
Intellectual disability RTTN Louise Daugherty commented on RTTN
Intellectual disability RTN2 Louise Daugherty commented on RTN2
Intellectual disability RNF216 Louise Daugherty commented on RNF216
Intellectual disability RLIM Louise Daugherty commented on RLIM
Intellectual disability REEP2 Louise Daugherty commented on REEP2
Intellectual disability REEP1 Louise Daugherty commented on REEP1
Intellectual disability PHC1 Louise Daugherty commented on PHC1
Intellectual disability HTT Louise Daugherty commented on HTT
Intellectual disability WASHC5 Olivia Niblock classified WASHC5 as Amber List (moderate evidence)
Intellectual disability WASHC5 Olivia Niblock commented on WASHC5
Intellectual disability CAMK2B Sarah Leigh Added gene to panel
Intellectual disability RRM2B Sarah Leigh Added gene to panel
Intellectual disability KIDINS220 Sarah Leigh Added gene to panel
Intellectual disability IARS Sarah Leigh Added gene to panel
Intellectual disability HNRNPH2 Sarah Leigh Added gene to panel
Amelogenesis imperfecta ORAI1 Sarah Leigh marked ORAI1 as ready
Amelogenesis imperfecta ORAI1 Sarah Leigh classified ORAI1 as Green List (high evidence)
Arthrogryposis STIM1 Sarah Leigh marked STIM1 as ready
Congenital myopathy STIM1 Sarah Leigh reviewed STIM1
Amelogenesis imperfecta STIM1 Sarah Leigh marked STIM1 as ready
Inherited white matter disorders PYCR2 Helen Brittain marked PYCR2 as ready
Inherited white matter disorders PYCR2 Helen Brittain classified PYCR2 as Green List (high evidence)
Inherited white matter disorders PYCR2 Helen Brittain Added gene to panel
Skeletal dysplasia PRMT7 Helen Brittain marked PRMT7 as ready
Skeletal dysplasia PRMT7 Helen Brittain classified PRMT7 as Green List (high evidence)
Skeletal dysplasia PRMT7 Helen Brittain Added gene to panel
Hereditary spastic paraplegia KIDINS220 Helen Brittain marked KIDINS220 as ready
Hereditary spastic paraplegia KIDINS220 Helen Brittain classified KIDINS220 as Green List (high evidence)
Hereditary spastic paraplegia KIDINS220 Helen Brittain Added gene to panel
Intellectual disability PIK3CA Louise Daugherty edited their review of PIK3CA
Familial rhabdomyosarcoma Louise Daugherty promoted panel to version 1.0
Familial rhabdomyosarcoma WT1 Louise Daugherty marked WT1 as ready
Familial rhabdomyosarcoma RB1 Louise Daugherty marked RB1 as ready
Familial rhabdomyosarcoma RB1 Louise Daugherty classified RB1 as Green List (high evidence)
Familial rhabdomyosarcoma PMS2 Louise Daugherty marked PMS2 as ready
Familial rhabdomyosarcoma PMS2 Louise Daugherty classified PMS2 as Green List (high evidence)
Familial rhabdomyosarcoma PAX7 Louise Daugherty marked PAX7 as ready
Familial rhabdomyosarcoma PAX3 Louise Daugherty marked PAX3 as ready
Familial rhabdomyosarcoma NF1 Louise Daugherty marked NF1 as ready
Familial rhabdomyosarcoma NF1 Louise Daugherty classified NF1 as Green List (high evidence)
Familial rhabdomyosarcoma NBN Louise Daugherty marked NBN as ready
Familial rhabdomyosarcoma NBN Louise Daugherty classified NBN as Green List (high evidence)
Familial rhabdomyosarcoma MSH6 Louise Daugherty marked MSH6 as ready
Familial rhabdomyosarcoma MSH6 Louise Daugherty classified MSH6 as Green List (high evidence)
Familial rhabdomyosarcoma MSH2 Louise Daugherty marked MSH2 as ready
Familial rhabdomyosarcoma MSH2 Louise Daugherty classified MSH2 as Green List (high evidence)
Familial rhabdomyosarcoma MLH1 Louise Daugherty marked MLH1 as ready
Familial rhabdomyosarcoma MLH1 Louise Daugherty classified MLH1 as Green List (high evidence)
Familial rhabdomyosarcoma KRAS Louise Daugherty marked KRAS as ready
Familial rhabdomyosarcoma HRAS Louise Daugherty marked HRAS as ready
Familial rhabdomyosarcoma HRAS Louise Daugherty classified HRAS as Green List (high evidence)
Familial rhabdomyosarcoma FOXO1 Louise Daugherty marked FOXO1 as ready
Familial rhabdomyosarcoma DICER1 Louise Daugherty marked DICER1 as ready
Familial rhabdomyosarcoma CREBBP Louise Daugherty marked CREBBP as ready
Familial rhabdomyosarcoma CDKN1C Louise Daugherty marked CDKN1C as ready
Familial rhabdomyosarcoma BUB1B Louise Daugherty marked BUB1B as ready
Familial rhabdomyosarcoma CDKN1C Louise Daugherty classified CDKN1C as Green List (high evidence)
Familial rhabdomyosarcoma BUB1B Louise Daugherty classified BUB1B as Green List (high evidence)
Familial rhabdomyosarcoma WT1 Helen Brittain reviewed WT1
Familial rhabdomyosarcoma TP53 Helen Brittain reviewed TP53
Familial rhabdomyosarcoma RB1 Helen Brittain reviewed RB1
Familial rhabdomyosarcoma PMS2 Helen Brittain reviewed PMS2
Familial rhabdomyosarcoma PAX7 Helen Brittain reviewed PAX7
Familial rhabdomyosarcoma PAX3 Helen Brittain reviewed PAX3
Familial rhabdomyosarcoma NF1 Helen Brittain reviewed NF1
Familial rhabdomyosarcoma NBN Helen Brittain reviewed NBN
Familial rhabdomyosarcoma MSH6 Helen Brittain reviewed MSH6
Familial rhabdomyosarcoma MSH2 Helen Brittain reviewed MSH2
Familial rhabdomyosarcoma MLH1 Helen Brittain reviewed MLH1
Familial rhabdomyosarcoma KRAS Helen Brittain reviewed KRAS
Familial rhabdomyosarcoma HRAS Helen Brittain reviewed HRAS
Familial rhabdomyosarcoma FOXO1 Helen Brittain reviewed FOXO1
Familial rhabdomyosarcoma DICER1 Helen Brittain reviewed DICER1
Familial rhabdomyosarcoma CREBBP Helen Brittain reviewed CREBBP
Familial rhabdomyosarcoma CDKN1C Helen Brittain reviewed CDKN1C
Familial rhabdomyosarcoma BUB1B Helen Brittain reviewed BUB1B
Familial rhabdomyosarcoma CREBBP Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma CDKN1C Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma BUB1B Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma WT1 Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma RB1 Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma PMS2 Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma NF1 Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma NBN Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma MSH6 Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma MSH2 Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma MLH1 Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma KRAS Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma HRAS Louise Daugherty Added gene to panel
Familial rhabdomyosarcoma DICER1 Louise Daugherty Added gene to panel
Inherited white matter disorders CIC Sarah Leigh classified CIC as Green List (high evidence)
Inherited white matter disorders CIC Sarah Leigh Added gene to panel
Hereditary spastic paraplegia CDK16 Sarah Leigh classified CDK16 as Amber List (moderate evidence)
Hereditary spastic paraplegia CDK16 Sarah Leigh Added gene to panel
Skeletal dysplasia ASXL2 Sarah Leigh classified ASXL2 as Green List (high evidence)
Skeletal dysplasia ASXL2 Sarah Leigh Added gene to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders ASXL2 Sarah Leigh classified ASXL2 as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders ASXL2 Sarah Leigh Added gene to panel
Hydrocephalus ASXL2 Sarah Leigh Added gene to panel
Mitochondrial disorders CARS2 Sarah Leigh commented on CARS2
Extreme early-onset hypertension CACNA1H Sarah Leigh classified CACNA1H as Amber List (moderate evidence)
Extreme early-onset hypertension CACNA1H Sarah Leigh Added gene to panel
Adult solid tumours for rare disease WT1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease VHL Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease TSC2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease TSC1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease TP53 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease TMEM127 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SUFU Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease STK11 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SMARCB1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SMARCA4 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SMAD4 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHD Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHC Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHB Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHAF2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease SDHA Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease RET Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease RB1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease RAD51D Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease RAD51C Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease PTEN Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease PTCH1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease POLE Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease POLD1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease PMS2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease PALB2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease NTHL1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease NF2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease NF1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MUTYH Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MSH6 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MSH2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MLH1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MET Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MEN1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease MAX Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease KIT Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease FLCN Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease FH Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease EPCAM Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease DICER1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CHEK2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDKN2A Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDKN1B Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDK4 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDH1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease CDC73 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BRIP1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BRCA2 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BRCA1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BMPR1A Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease BAP1 Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease ATM Ellen McDonagh Added gene to panel
Adult solid tumours for rare disease APC Ellen McDonagh Added gene to panel
Intellectual disability DECR1 Ellen McDonagh classified DECR1 as Red List (low evidence)
Severe microcephaly IARS Louise Daugherty classified IARS as Green List (high evidence)
Severe microcephaly IARS Louise Daugherty edited their review of IARS
Severe microcephaly IARS Louise Daugherty Added gene to panel
Early onset dystonia SERAC1 Louise Daugherty classified SERAC1 as Green List (high evidence)
Early onset dystonia SERAC1 Louise Daugherty edited their review of SERAC1
Early onset dystonia SERAC1 Louise Daugherty reviewed SERAC1
Hyperammonaemia SERAC1 Louise Daugherty classified SERAC1 as Green List (high evidence)
Hyperammonaemia SERAC1 Louise Daugherty edited their review of SERAC1
Hyperammonaemia SERAC1 Louise Daugherty reviewed SERAC1
Monogenic hearing loss SERAC1 Louise Daugherty classified SERAC1 as Green List (high evidence)
Monogenic hearing loss SERAC1 Louise Daugherty reviewed SERAC1
Hereditary spastic paraplegia SERAC1 Louise Daugherty classified SERAC1 as Green List (high evidence)
Hereditary spastic paraplegia SERAC1 Louise Daugherty Added gene to panel
Intellectual disability LRP2 Helen Brittain reviewed LRP2
Structural basal ganglia disorders SERAC1 Louise Daugherty edited their review of SERAC1
Intellectual disability LRP2 Helen Brittain reviewed LRP2
Mitochondrial disorders SERAC1 Louise Daugherty commented on SERAC1
Mitochondrial disorders IER3IP1 Louise Daugherty classified IER3IP1 as Green List (high evidence)
Mitochondrial disorders IER3IP1 Louise Daugherty Added gene to panel
Mitochondrial disorders HMGCL Louise Daugherty classified HMGCL as Green List (high evidence)
Mitochondrial disorders HMGCL Louise Daugherty Added gene to panel
Familial non syndromic congenital heart disease MYH6 Ellen McDonagh classified MYH6 as Green List (high evidence)
VACTERL-like phenotypes CHD4 Helen Brittain marked CHD4 as ready
VACTERL-like phenotypes CHD4 Helen Brittain classified CHD4 as Green List (high evidence)
VACTERL-like phenotypes CHD4 Helen Brittain Added gene to panel
Dilated Cardiomyopathy and conduction defects DNAJC19 Ellen McDonagh classified DNAJC19 as Red List (low evidence)
Hereditary ataxia DNAJC19 Ellen McDonagh classified DNAJC19 as Green List (high evidence)
Hereditary ataxia DNAJC19 Ellen McDonagh commented on DNAJC19
Hereditary ataxia DNAJC19 Ellen McDonagh Added gene to panel
Mitochondrial disorders DNAJC19 Ellen McDonagh classified DNAJC19 as Green List (high evidence)
Mitochondrial disorders DNAJC19 Ellen McDonagh commented on DNAJC19
Undiagnosed metabolic disorders DNAJC19 Ellen McDonagh classified DNAJC19 as Green List (high evidence)
Undiagnosed metabolic disorders DNAJC19 Ellen McDonagh commented on DNAJC19
Malformations of cortical development EOMES Ellen McDonagh commented on EOMES
Malformations of cortical development EOMES Ellen McDonagh Added gene to panel
Severe microcephaly EOMES Ellen McDonagh commented on EOMES
Severe microcephaly EOMES Ellen McDonagh Added gene to panel
Early onset dystonia PCDH12 Ellen McDonagh edited their review of PCDH12
Early onset dystonia PCDH12 Ellen McDonagh reviewed PCDH12
Early onset dystonia PCDH12 Ellen McDonagh Added gene to panel
Intracerebral calcification disorders PCDH12 Ellen McDonagh Added gene to panel
Hereditary spastic paraplegia PCDH12 Ellen McDonagh Added gene to panel
Intellectual disability PCDH12 Ellen McDonagh edited their review of PCDH12
Intellectual disability PCDH12 Ellen McDonagh Added gene to panel
Cystic kidney disease CEP290 Ellen McDonagh classified CEP290 as Amber List (moderate evidence)
Retinal disorders PRPS1 Ellen McDonagh classified PRPS1 as Green List (high evidence)
Intellectual disability HIST1H1E Ellen McDonagh marked HIST1H1E as ready
Hypertrophic cardiomyopathy TSFM Helen Brittain marked TSFM as ready
Hypertrophic cardiomyopathy TSFM Helen Brittain classified TSFM as Red List (low evidence)
Hypertrophic cardiomyopathy SLC25A3 Helen Brittain marked SLC25A3 as ready
Hypertrophic cardiomyopathy SLC25A3 Helen Brittain classified SLC25A3 as Red List (low evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy DGKE Arianna Tucci marked DGKE as ready
Membranoproliferative glomerulonephritis including C3 glomerulopathy DGKE Arianna Tucci classified DGKE as Green List (high evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy Louise Daugherty promoted panel to version 1.0
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFB Arianna Tucci reviewed CFB
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFB Arianna Tucci classified CFB as Amber List (moderate evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy DGKE Arianna Tucci marked DGKE as ready
Membranoproliferative glomerulonephritis including C3 glomerulopathy DGKE Arianna Tucci classified DGKE as Amber List (moderate evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy CD46 Arianna Tucci marked CD46 as ready
Membranoproliferative glomerulonephritis including C3 glomerulopathy C3 Arianna Tucci marked C3 as ready
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFB Arianna Tucci edited their review of CFB
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFB Arianna Tucci reviewed CFB
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFI Arianna Tucci marked CFI as ready
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFHR5 Arianna Tucci marked CFHR5 as ready
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFHR2 Arianna Tucci marked CFHR2 as ready
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFHR1 Arianna Tucci marked CFHR1 as ready
Membranoproliferative glomerulonephritis including C3 glomerulopathy CFH Arianna Tucci marked CFH as ready
Congenital adrenal hypoplasia SGPL1 Ellen McDonagh classified SGPL1 as Green List (high evidence)
Intellectual disability A2ML1 Tord Jonson Added gene to panel
Intellectual disability AARS Tord Jonson reviewed AARS
Limb disorders SHH Ellen McDonagh classified SHH as Red List (low evidence)
Hereditary ataxia BEAN1 Sarah Leigh Added gene to panel
Rare syndromic craniosynostosis or isolated multisuture synostosis SMAD6 Ellen McDonagh classified SMAD6 as Green List (high evidence)
Hereditary ataxia ATXN10 Sarah Leigh reviewed ATXN10
Hereditary ataxia ATP6V0A2 Sarah Leigh classified ATP6V0A2 as Green List (high evidence)
Hereditary ataxia ATP6V0A2 Sarah Leigh Added gene to panel
Intellectual disability OR5M1 Louise Daugherty edited their review of OR5M1
Parkinson Disease and Complex Parkinsonism ATP6AP2 Sarah Leigh Added gene to panel
Limb disorders SHH Dimitris Polychronopoulos Added gene to panel
Intellectual disability MIB1 Ellen McDonagh marked MIB1 as ready
Intellectual disability MIB1 Ellen McDonagh reviewed MIB1
Intellectual disability SHOX Louise Daugherty commented on SHOX
Intellectual disability PET100 Louise Daugherty commented on PET100
Retinal disorders PRPS1 Ellen McDonagh classified PRPS1 as Amber List (moderate evidence)
Retinal disorders PRPS1 Ellen McDonagh Added gene to panel
Neurofibromatosis Type 1 POLA1 Louise Daugherty classified POLA1 as Amber List (moderate evidence)
Neurofibromatosis Type 1 POLA1 Louise Daugherty Added gene to panel
Gastrointestinal neuromuscular disorders CLMP Helen Brittain marked CLMP as ready
Gastrointestinal neuromuscular disorders CLMP Helen Brittain classified CLMP as Green List (high evidence)
Gastrointestinal neuromuscular disorders CLMP Helen Brittain Added gene to panel
Amelogenesis imperfecta PEX26 Ellen McDonagh marked PEX26 as ready
Amelogenesis imperfecta STIM1 Ellen McDonagh marked STIM1 as ready
Intellectual disability RLIM Louise Daugherty commented on RLIM
Osteogenesis imperfecta EP300 Louise Daugherty commented on EP300
Intellectual disability PHC1 Louise Daugherty commented on PHC1
Intellectual disability PCDH19 Louise Daugherty edited their review of PCDH19
Hereditary spastic paraplegia REEP2 Louise Daugherty classified REEP2 as Amber List (moderate evidence)
Intellectual disability KCNK9 Ellen McDonagh classified KCNK9 as Green List (high evidence)
Intellectual disability TTN Ellen McDonagh Added gene to panel
Intellectual disability TLK2 Ellen McDonagh Added gene to panel
Intellectual disability PLOD3 Ellen McDonagh Added gene to panel
Intellectual disability ITCH Ellen McDonagh Added gene to panel
Intellectual disability ARHGAP31 Ellen McDonagh Added gene to panel
Intellectual disability UPB1 Ellen McDonagh marked UPB1 as ready
Intellectual disability UPB1 Ellen McDonagh classified UPB1 as Amber List (moderate evidence)
Intellectual disability ARL14EP Ellen McDonagh marked ARL14EP as ready
Intellectual disability ALX4 Ellen McDonagh marked ALX4 as ready
Intellectual disability ALX4 Ellen McDonagh classified ALX4 as Amber List (moderate evidence)
Intellectual disability AKT1 Ellen McDonagh marked AKT1 as ready
Intellectual disability AKT1 Ellen McDonagh classified AKT1 as Amber List (moderate evidence)
Intellectual disability ADCY5 Ellen McDonagh marked ADCY5 as ready
Intellectual disability ACVR1 Ellen McDonagh marked ACVR1 as ready
Intellectual disability ACVR1 Ellen McDonagh marked ACVR1 as ready
Intellectual disability ACVR1 Ellen McDonagh classified ACVR1 as Amber List (moderate evidence)
Intellectual disability DOCK6 Ellen McDonagh Added gene to panel
Intellectual disability DENND5A Ellen McDonagh Added gene to panel
Intellectual disability TRIT1 Ellen McDonagh Added gene to panel
Intellectual disability TMTC3 Ellen McDonagh Added gene to panel
Intellectual disability THOC6 Ellen McDonagh Added gene to panel
Intellectual disability SLC6A9 Ellen McDonagh Added gene to panel
Intellectual disability RAC1 Ellen McDonagh Added gene to panel
Intellectual disability PLPBP Ellen McDonagh Added gene to panel
Intellectual disability EML1 Ellen McDonagh Added gene to panel
Intellectual disability ASXL2 Ellen McDonagh Added gene to panel
Intellectual disability AP3B2 Ellen McDonagh Added gene to panel
Intellectual disability PSEN1 Louise Daugherty commented on PSEN1
Intellectual disability PRX Louise Daugherty commented on PRX
Intellectual disability PRKRA Louise Daugherty commented on PRKRA
Intellectual disability PRKCG Louise Daugherty commented on PRKCG
Intellectual disability PRICKLE2 Louise Daugherty commented on PRICKLE2
Intellectual disability PRICKLE1 Louise Daugherty commented on PRICKLE1
Intellectual disability PPP2R2B Louise Daugherty commented on PPP2R2B
Intellectual disability PNKD Louise Daugherty commented on PNKD
Intellectual disability PMP22 Louise Daugherty commented on PMP22
Intellectual disability PLEC Louise Daugherty commented on PLEC
Intellectual disability PINK1 Louise Daugherty commented on PINK1
Intellectual disability PDYN Louise Daugherty commented on PDYN
Intellectual disability PDGFB Louise Daugherty commented on PDGFB
Intellectual disability PARK7 Louise Daugherty commented on PARK7
Intellectual disability PRKN Louise Daugherty commented on PRKN
Intellectual disability SET Louise Daugherty commented on SET
Intellectual disability PNPO Louise Daugherty commented on PNPO
Intellectual disability PNPLA6 Louise Daugherty commented on PNPLA6
Intellectual disability OPA3 Louise Daugherty commented on OPA3
Intellectual disability SIN3A Louise Daugherty commented on SIN3A
Intellectual disability PSMD12 Louise Daugherty commented on PSMD12
Intellectual disability PRUNE1 Louise Daugherty commented on PRUNE1
Intellectual disability PLAA Louise Daugherty commented on PLAA
Intellectual disability PGAP1 Louise Daugherty commented on PGAP1
Intellectual disability TM4SF20 Rebecca Foulger commented on TM4SF20
Intellectual disability ZNF335 Rebecca Foulger commented on ZNF335
Intellectual disability XPA Rebecca Foulger commented on XPA
Intellectual disability TRMT1 Rebecca Foulger commented on TRMT1
Intellectual disability TECPR2 Rebecca Foulger commented on TECPR2
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability WDR81 Rebecca Foulger commented on WDR81
Intellectual disability SZT2 Rebecca Foulger commented on SZT2
Intellectual disability SPTBN2 Rebecca Foulger commented on SPTBN2
Intellectual disability SPART Rebecca Foulger commented on SPART
Intellectual disability DMXL2 Ellen McDonagh commented on DMXL2
Congenital adrenal hypoplasia SGPL1 Ellen Thomas Added gene to panel
Rare syndromic craniosynostosis or isolated multisuture synostosis ALPL maurizia baldi commented on ALPL
Hereditary spastic paraplegia REEP2 Louise Daugherty Added gene to panel
Hypertrophic cardiomyopathy MYH6 Ian Berry reviewed MYH6
Hypertrophic cardiomyopathy TSFM Ian Berry reviewed TSFM
Hypertrophic cardiomyopathy SLC25A3 Ian Berry reviewed SLC25A3
Hypertrophic cardiomyopathy CSRP3 Ian Berry reviewed CSRP3
Congenital myopathy MAP3K20 Louise Daugherty commented on MAP3K20
Limb disorders FAM58A Ellen McDonagh commented on FAM58A
Limb disorders SEM1 Ellen McDonagh commented on SEM1
Limb disorders WNT7A Ellen McDonagh Added gene to panel
Limb disorders WNT5A Ellen McDonagh Added gene to panel
Limb disorders WNT10B Ellen McDonagh Added gene to panel
Limb disorders WDR60 Ellen McDonagh Added gene to panel
Limb disorders TRPS1 Ellen McDonagh Added gene to panel
Limb disorders TP63 Ellen McDonagh Added gene to panel
Limb disorders TMEM67 Ellen McDonagh Added gene to panel
Limb disorders TBX5 Ellen McDonagh Added gene to panel
Limb disorders TBX4 Ellen McDonagh Added gene to panel
Limb disorders TBX3 Ellen McDonagh Added gene to panel
Limb disorders SMC3 Ellen McDonagh Added gene to panel
Limb disorders SMC1A Ellen McDonagh Added gene to panel
Limb disorders SEM1 Ellen McDonagh Added gene to panel
Limb disorders SF3B4 Ellen McDonagh Added gene to panel
Limb disorders SALL4 Ellen McDonagh Added gene to panel
Limb disorders SALL1 Ellen McDonagh Added gene to panel
Limb disorders RPGRIP1L Ellen McDonagh Added gene to panel
Limb disorders ROR2 Ellen McDonagh Added gene to panel
Limb disorders RNU4ATAC Ellen McDonagh Added gene to panel
Limb disorders RECQL4 Ellen McDonagh Added gene to panel
Limb disorders RBPJ Ellen McDonagh Added gene to panel
Limb disorders RBM8A Ellen McDonagh Added gene to panel
Limb disorders RAB23 Ellen McDonagh Added gene to panel
Limb disorders PTHLH Ellen McDonagh Added gene to panel
Limb disorders PITX1 Ellen McDonagh Added gene to panel
Limb disorders PCNT Ellen McDonagh Added gene to panel
Limb disorders OFD1 Ellen McDonagh Added gene to panel
Limb disorders NOTCH1 Ellen McDonagh Added gene to panel
Limb disorders NOG Ellen McDonagh Added gene to panel
Limb disorders NIPBL Ellen McDonagh Added gene to panel
Limb disorders MYCN Ellen McDonagh Added gene to panel
Limb disorders MKS1 Ellen McDonagh Added gene to panel
Limb disorders MIR17HG Ellen McDonagh Added gene to panel
Limb disorders LMX1B Ellen McDonagh Added gene to panel
Limb disorders LMBR1 Ellen McDonagh Added gene to panel
Limb disorders KIF7 Ellen McDonagh Added gene to panel
Limb disorders IHH Ellen McDonagh Added gene to panel
Limb disorders HOXD13 Ellen McDonagh Added gene to panel
Limb disorders HOXA13 Ellen McDonagh Added gene to panel
Limb disorders HDAC4 Ellen McDonagh Added gene to panel
Limb disorders GREM1 Ellen McDonagh Added gene to panel
Limb disorders GNAS Ellen McDonagh Added gene to panel
Limb disorders GLI3 Ellen McDonagh Added gene to panel
Limb disorders GJA1 Ellen McDonagh Added gene to panel
Limb disorders GDF5 Ellen McDonagh Added gene to panel
Limb disorders FMN1 Ellen McDonagh Added gene to panel
Limb disorders FLNA Ellen McDonagh Added gene to panel
Limb disorders FGFR3 Ellen McDonagh Added gene to panel
Limb disorders FGFR2 Ellen McDonagh Added gene to panel
Limb disorders FGFR1 Ellen McDonagh Added gene to panel
Limb disorders FGF9 Ellen McDonagh Added gene to panel
Limb disorders FGF16 Ellen McDonagh Added gene to panel
Limb disorders FGF10 Ellen McDonagh Added gene to panel
Limb disorders FGD1 Ellen McDonagh Added gene to panel
Limb disorders FBLN1 Ellen McDonagh Added gene to panel
Limb disorders FAM58A Ellen McDonagh Added gene to panel
Limb disorders EOGT Ellen McDonagh Added gene to panel
Limb disorders EFTUD2 Ellen McDonagh Added gene to panel
Limb disorders DVL3 Ellen McDonagh Added gene to panel
Limb disorders DVL2 Ellen McDonagh Added gene to panel
Limb disorders DVL1 Ellen McDonagh Added gene to panel
Limb disorders DOCK6 Ellen McDonagh Added gene to panel
Limb disorders DLX6 Ellen McDonagh Added gene to panel
Limb disorders DLX5 Ellen McDonagh Added gene to panel
Limb disorders DLL4 Ellen McDonagh Added gene to panel
Limb disorders CEP290 Ellen McDonagh Added gene to panel
Limb disorders CC2D2A Ellen McDonagh Added gene to panel
Limb disorders BTRC Ellen McDonagh Added gene to panel
Limb disorders BMPR1B Ellen McDonagh Added gene to panel
Limb disorders BMP2 Ellen McDonagh Added gene to panel
Limb disorders BHLHA9 Ellen McDonagh Added gene to panel
Limb disorders ARSE Ellen McDonagh Added gene to panel
Limb disorders ARHGAP31 Ellen McDonagh Added gene to panel
Amelogenesis imperfecta SLC13A5 Claire Smith reviewed SLC13A5
Amelogenesis imperfecta STIM1 Claire Smith reviewed STIM1
Amelogenesis imperfecta ROGDI Claire Smith reviewed ROGDI
Amelogenesis imperfecta COL17A1 Claire Smith reviewed COL17A1
Amelogenesis imperfecta ORAI1 Claire Smith reviewed ORAI1
Glaucoma (developmental) FOXD3 Owen Siggs reviewed FOXD3
Cystic kidney disease DZIP1L Ellen McDonagh classified DZIP1L as Green List (high evidence)
Familial hypercholesterolaemia APOE Helen Brittain classified APOE as Green List (high evidence)
Familial hypercholesterolaemia APOE Helen Brittain reviewed APOE
Hydrocephalus CC2D2A Helen Brittain marked CC2D2A as ready
Hydrocephalus CC2D2A Helen Brittain classified CC2D2A as Green List (high evidence)
Malformations of cortical development CDK13 Ellen McDonagh classified CDK13 as Green List (high evidence)
Intellectual disability CDK13 Ellen McDonagh classified CDK13 as Green List (high evidence)
Intellectual disability CDK13 Ellen McDonagh classified CDK13 as Green List (high evidence)
Rhabdomyolysis and metabolic muscle disorders POLG1 Louise Daugherty commented on POLG1
Hereditary ataxia RUBCNL Louise Daugherty edited their review of RUBCNL
Brain channelopathy ATN1L~withdrawn Louise Daugherty classified ATN1L~withdrawn as No list
COVID-19 research IFIH1 Ellen McDonagh classified IFIH1 as Red List (low evidence)
COVID-19 research IRF8 Ellie McDonagh commented on IRF8
COVID-19 research IRF8 Ellie McDonagh commented on IRF8
COVID-19 research IRF8 Ellie McDonagh edited their review of IRF8
COVID-19 research IRF8 Ellie McDonagh commented on IRF8
COVID-19 research IRF8 Ellie McDonagh commented on IRF8
COVID-19 research IRF8 Ellie McDonagh commented on IRF8
COVID-19 research IRF8 Ellie McDonagh commented on IRF8
COVID-19 research IRF8 Ellie McDonagh commented on IRF8
COVID-19 research IRF8 Ellie McDonagh commented on IRF8
COVID-19 research IRF7 Ellie McDonagh reviewed IRF7
COVID-19 research IFIH1 Ellie McDonagh edited their review of IFIH1
Cystic kidney disease DZIP1L John Sayer added DZIP1L to panel
Cystic kidney disease DZIP1L John Sayer reviewed DZIP1L
Radial dysplasia FANCM Ellen McDonagh reviewed FANCM
Severe microcephaly FANCM Ellen McDonagh reviewed FANCM
Neurofibromatosis Type 1 FANCM Ellen McDonagh reviewed FANCM
IUGR and IGF abnormalities FANCM Ellen McDonagh edited their review of FANCM
Head and neck cancer pertinent cancer susceptibility FANCM Ellen McDonagh edited their review of FANCM
Haematological malignancies cancer susceptibility FANCM Ellen McDonagh reviewed FANCM
Cytopenias and congenital anaemias FANCM Ellen McDonagh commented on FANCM
Childhood solid tumours cancer susceptibility FANCM Ellen McDonagh edited their review of FANCM
Clefting RBPJ Louise Daugherty commented on RBPJ
Skeletal dysplasia RBPJ Louise Daugherty edited their review of RBPJ
Skeletal dysplasia RBPJ Louise Daugherty classified RBPJ as green
Skeletal dysplasia RBPJ Louise Daugherty classified RBPJ as amber
Skeletal dysplasia RBPJ Louise Daugherty commented on RBPJ
Haematuria COL4A1 Ellen McDonagh marked COL4A1 as ready
Haematuria COL4A1 Ellen McDonagh classified COL4A1 as green
Parkinson Disease and Complex Parkinsonism OPA3 Louise Daugherty classified OPA3 as green
Parkinson Disease and Complex Parkinsonism OPA3 Louise Daugherty added OPA3 to panel
Parkinson Disease and Complex Parkinsonism OPA3 Louise Daugherty reviewed OPA3
Hereditary spastic paraplegia OPA3 Louise Daugherty classified OPA3 as green
Hereditary spastic paraplegia OPA3 Louise Daugherty added OPA3 to panel
Hereditary spastic paraplegia OPA3 Louise Daugherty reviewed OPA3
Hereditary ataxia OPA3 Louise Daugherty classified OPA3 as green
Hereditary ataxia OPA3 Louise Daugherty added OPA3 to panel
Hereditary ataxia OPA3 Louise Daugherty reviewed OPA3
Early onset dementia (encompassing fronto-temporal dementia and prion disease) ATN1 Arianna Tucci marked ATN1 as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) ATN1 Arianna Tucci added ATN1 to panel
Early onset dementia (encompassing fronto-temporal dementia and prion disease) ATN1 Arianna Tucci reviewed ATN1
Brain channelopathy ATN1L~withdrawn Arianna Tucci marked ATN1L~withdrawn as ready
Brain channelopathy ATN1 Arianna Tucci marked ATN1 as ready
Brain channelopathy ATN1 Arianna Tucci added ATN1 to panel
Brain channelopathy ATN1 Arianna Tucci reviewed ATN1
Brain channelopathy ATN1L~withdrawn Arianna Tucci added ATN1L~withdrawn to panel
Brain channelopathy ATN1L~withdrawn Arianna Tucci reviewed ATN1L~withdrawn
Ocular coloboma PUF60 Louise Daugherty classified PUF60 as green
Ocular coloboma PUF60 Louise Daugherty reviewed PUF60
VACTERL-like phenotypes PUF60 Louise Daugherty edited their review of PUF60
VACTERL-like phenotypes PUF60 Louise Daugherty commented on PUF60
Haematuria COL4A1 Ellen McDonagh classified COL4A1 as amber
Haematuria COL4A1 Ellen McDonagh commented on COL4A1
Haematuria COL4A1 Ellen McDonagh classified COL4A1 as amber
Skeletal dysplasia PUF60 Louise Daugherty classified PUF60 as green
Skeletal dysplasia PUF60 Louise Daugherty added PUF60 to panel
Skeletal dysplasia PUF60 Louise Daugherty reviewed PUF60
Epidermolysis bullosa KLHL24 Ellen McDonagh marked KLHL24 as ready
Epidermolysis bullosa KLHL24 Ellen McDonagh classified KLHL24 as green
Epidermolysis bullosa KLHL24 Ellen McDonagh commented on KLHL24
Amelogenesis imperfecta LAMB3 Rebecca Foulger marked LAMB3 as ready
Amelogenesis imperfecta LAMA3 Rebecca Foulger marked LAMA3 as ready
Amelogenesis imperfecta COL17A1 Rebecca Foulger marked COL17A1 as ready
Hereditary spastic paraplegia TECPR2 Rebecca Foulger commented on TECPR2
Bilateral congenital or childhood onset cataracts SIPA1L3 Ellen McDonagh classified SIPA1L3 as amber
Clefting DLG1 Ellen McDonagh added DLG1 to panel
Clefting DLG1 Ellen McDonagh reviewed DLG1
Hereditary ataxia VAMP1 Rebecca Foulger edited their review of VAMP1
Hereditary ataxia VAMP1 Rebecca Foulger classified VAMP1 as amber
Hereditary ataxia VAMP1 Rebecca Foulger commented on VAMP1
Hereditary spastic paraplegia VAMP1 Rebecca Foulger edited their review of VAMP1
Congenital myaesthenic syndrome VAMP1 Rebecca Foulger classified VAMP1 as amber
Congenital myaesthenic syndrome VAMP1 Rebecca Foulger added VAMP1 to panel
Congenital myaesthenic syndrome VAMP1 Rebecca Foulger reviewed VAMP1
Hydrocephalus EML1 Rebecca Foulger classified EML1 as green
Hydrocephalus EML1 Rebecca Foulger commented on EML1
Amelogenesis imperfecta AMTN Rebecca Foulger classified AMTN as amber
Intellectual disability RHEB Rebecca Foulger classified RHEB as amber
Intellectual disability RHEB Rebecca Foulger commented on RHEB
Amelogenesis imperfecta PEX26 Rebecca Foulger classified PEX26 as amber
Amelogenesis imperfecta PEX26 Rebecca Foulger edited their review of PEX26
Amelogenesis imperfecta PEX26 Rebecca Foulger commented on PEX26
Amelogenesis imperfecta PEX1 Rebecca Foulger marked PEX1 as ready
Amelogenesis imperfecta PEX6 Rebecca Foulger marked PEX6 as ready
Amelogenesis imperfecta PEX6 Rebecca Foulger classified PEX6 as green
Amelogenesis imperfecta STIM1 Rebecca Foulger classified STIM1 as green
Amelogenesis imperfecta STIM1 Rebecca Foulger commented on STIM1
Amelogenesis imperfecta STIM1 Rebecca Foulger edited their review of STIM1
Amelogenesis imperfecta STIM1 Rebecca Foulger commented on STIM1
Amelogenesis imperfecta PEX26 Claire Smith added PEX26 to panel
Amelogenesis imperfecta PEX26 Claire Smith reviewed PEX26
Amelogenesis imperfecta PEX1 Claire Smith reviewed PEX1
Amelogenesis imperfecta PEX6 Claire Smith reviewed PEX6
Amelogenesis imperfecta PEX6 Rebecca Foulger classified PEX6 as amber
Amelogenesis imperfecta PEX6 Rebecca Foulger commented on PEX6
Amelogenesis imperfecta PEX1 Rebecca Foulger classified PEX1 as green
Amelogenesis imperfecta PEX1 Rebecca Foulger commented on PEX1
Amelogenesis imperfecta PEX1 Rebecca Foulger commented on PEX1
Amelogenesis imperfecta PEX1 Rebecca Foulger commented on PEX1
Amelogenesis imperfecta ITGB4 Rebecca Foulger classified ITGB4 as amber
Amelogenesis imperfecta ITGB4 Rebecca Foulger commented on ITGB4
Amelogenesis imperfecta ITGB4 Rebecca Foulger edited their review of ITGB4
Amelogenesis imperfecta LTBP3 Rebecca Foulger classified LTBP3 as green
Amelogenesis imperfecta LTBP3 Rebecca Foulger commented on LTBP3
Amelogenesis imperfecta SLC24A4 Rebecca Foulger marked SLC24A4 as ready
Amelogenesis imperfecta SLC24A4 Rebecca Foulger classified SLC24A4 as green
Amelogenesis imperfecta SLC24A4 Rebecca Foulger commented on SLC24A4
Amelogenesis imperfecta SLC24A4 Rebecca Foulger edited their review of SLC24A4
Amelogenesis imperfecta SLC24A4 Rebecca Foulger commented on SLC24A4
Amelogenesis imperfecta COL17A1 Rebecca Foulger classified COL17A1 as green
Amelogenesis imperfecta COL17A1 Rebecca Foulger commented on COL17A1
Amelogenesis imperfecta COL17A1 Rebecca Foulger commented on COL17A1
Amelogenesis imperfecta COL17A1 Rebecca Foulger commented on COL17A1
Amelogenesis imperfecta LAMC2 Rebecca Foulger classified LAMC2 as amber
Amelogenesis imperfecta FAM20C Rebecca Foulger marked FAM20C as ready
Amelogenesis imperfecta FAM20C Rebecca Foulger classified FAM20C as green
Amelogenesis imperfecta FAM20C Rebecca Foulger classified FAM20C as red
Amelogenesis imperfecta FAM20C Rebecca Foulger commented on FAM20C
Amelogenesis imperfecta LAMB3 Rebecca Foulger marked LAMB3 as ready
Amelogenesis imperfecta GPR68 Rebecca Foulger marked GPR68 as ready
Amelogenesis imperfecta ACPT Rebecca Foulger marked ACPT as ready
Amelogenesis imperfecta FAM83H Rebecca Foulger marked FAM83H as ready
Amelogenesis imperfecta LAMC2 Rebecca Foulger marked LAMC2 as ready
Amelogenesis imperfecta LAMC2 Rebecca Foulger classified LAMC2 as red
Familial non syndromic congenital heart disease FLT4 Ellen McDonagh edited their review of FLT4
Familial non syndromic congenital heart disease FLT4 Ellen McDonagh added FLT4 to panel
Familial non syndromic congenital heart disease FLT4 Ellen McDonagh reviewed FLT4
Familial non syndromic congenital heart disease MYH6 Ellen McDonagh edited their review of MYH6
Familial non syndromic congenital heart disease MYH6 Ellen McDonagh edited their review of MYH6
Familial non syndromic congenital heart disease MYH6 Ellen McDonagh reviewed MYH6
Familial Hirschsprung Disease Rebecca Foulger promoted panel to version 1
Rare syndromic craniosynostosis or isolated multisuture synostosis DHRS3 Andrew Wilkie added DHRS3 to panel
Rare syndromic craniosynostosis or isolated multisuture synostosis DHRS3 Andrew Wilkie reviewed DHRS3
Rare syndromic craniosynostosis or isolated multisuture synostosis TICRR Andrew Wilkie added TICRR to panel
Rare syndromic craniosynostosis or isolated multisuture synostosis TICRR Andrew Wilkie reviewed TICRR
Rare syndromic craniosynostosis or isolated multisuture synostosis PRRX1 Andrew Wilkie added PRRX1 to panel
Rare syndromic craniosynostosis or isolated multisuture synostosis PRRX1 Andrew Wilkie reviewed PRRX1
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Rare syndromic craniosynostosis or isolated multisuture synostosis SIX1 Andrew Wilkie added SIX1 to panel
Rare syndromic craniosynostosis or isolated multisuture synostosis SIX1 Andrew Wilkie reviewed SIX1
Familial Hirschsprung Disease PIGV Rebecca Foulger classified PIGV as red
Rare syndromic craniosynostosis or isolated multisuture synostosis SMAD6 Andrew Wilkie edited their review of SMAD6
Familial Hirschsprung Disease GFRA1 Rebecca Foulger classified GFRA1 as amber
Familial Hirschsprung Disease NRG1 Rebecca Foulger classified NRG1 as amber
Amelogenesis imperfecta CNNM4 emma baple marked CNNM4 as ready
Amelogenesis imperfecta CNNM4 emma baple classified CNNM4 as green
Amelogenesis imperfecta CNNM4 emma baple reviewed CNNM4
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability ZBTB18 Rebecca Foulger commented on ZBTB18
Intellectual disability XPA Rebecca Foulger commented on XPA
Intellectual disability XPA Rebecca Foulger commented on XPA
Intellectual disability XPA Rebecca Foulger commented on XPA
Hydrocephalus WDR81 Rebecca Foulger classified WDR81 as red
Hydrocephalus WDR81 Rebecca Foulger added WDR81 to panel
Hydrocephalus WDR81 Rebecca Foulger reviewed WDR81
Intellectual disability WDR81 Rebecca Foulger commented on WDR81
Intellectual disability WDR81 Rebecca Foulger commented on WDR81
Intellectual disability WDR81 Rebecca Foulger commented on WDR81
Hereditary spastic paraplegia VAMP1 Rebecca Foulger commented on VAMP1
Thoracic aortic aneurysm or dissection EFEMP2 Rebecca Foulger commented on EFEMP2
Neurofibromatosis Type 1 SPRED1 Louise Daugherty commented on SPRED1
Neurofibromatosis Type 1 NF1 Louise Daugherty commented on NF1
Neurofibromatosis Type 1 KITLG Louise Daugherty commented on KITLG
Pulmonary arterial hypertension EIF2AK4 Louise Daugherty edited their review of EIF2AK4
Neurofibromatosis Type 1 KITLG Helen Brittain marked KITLG as ready
Neurofibromatosis Type 1 KITLG Helen Brittain classified KITLG as green
Neurofibromatosis Type 1 KITLG Helen Brittain added KITLG to panel
Neurofibromatosis Type 1 KITLG Helen Brittain reviewed KITLG
Congenital muscular dystrophy TRAPPC11 Rebecca Foulger added TRAPPC11 to panel
Congenital muscular dystrophy TRAPPC11 Rebecca Foulger reviewed TRAPPC11
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies TRAPPC11 Rebecca Foulger classified TRAPPC11 as green
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies TRAPPC11 Rebecca Foulger commented on TRAPPC11
Anophthalmia or microphthalmia TUBGCP4 Rebecca Foulger classified TUBGCP4 as amber
Anophthalmia or microphthalmia TUBGCP4 Rebecca Foulger added TUBGCP4 to panel
Anophthalmia or microphthalmia TUBGCP4 Rebecca Foulger reviewed TUBGCP4
Intellectual disability TRMT1 Rebecca Foulger commented on TRMT1
GI tract tumours NTHL1 Sarah Leigh edited their review of NTHL1
Colorectal cancer pertinent cancer susceptibility NTHL1 Sarah Leigh classified NTHL1 as green
Ehlers Danlos syndrome with a likely monogenic cause PIEZO2 Louise Daugherty commented on PIEZO2
Ehlers Danlos syndrome with a likely monogenic cause PIEZO2 Louise Daugherty classified PIEZO2 as amber
Ehlers Danlos syndrome with a likely monogenic cause PIEZO2 Louise Daugherty added PIEZO2 to panel
Ehlers Danlos syndrome with a likely monogenic cause PIEZO2 Louise Daugherty reviewed PIEZO2
Ehlers Danlos syndrome with a likely monogenic cause ROBO3 Louise Daugherty commented on ROBO3
Ehlers Danlos syndrome with a likely monogenic cause DCC Louise Daugherty commented on DCC
Mitochondrial disorders ROBO3 Louise Daugherty classified ROBO3 as green
Mitochondrial disorders ROBO3 Louise Daugherty added ROBO3 to panel
Mitochondrial disorders ROBO3 Louise Daugherty reviewed ROBO3
Mitochondrial disorders DCC Louise Daugherty classified DCC as amber
Mitochondrial disorders DCC Louise Daugherty added DCC to panel
Mitochondrial disorders DCC Louise Daugherty reviewed DCC
Intellectual disability TM4SF20 Rebecca Foulger commented on TM4SF20
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Rebecca Foulger commented on EED
Colorectal cancer pertinent cancer susceptibility NTHL1 Ian Berry added NTHL1 to panel
Colorectal cancer pertinent cancer susceptibility NTHL1 Ian Berry reviewed NTHL1
Intellectual disability TECPR2 Rebecca Foulger commented on TECPR2
Intellectual disability TECPR2 Rebecca Foulger commented on TECPR2
Intellectual disability FAM58A Louise Daugherty edited their review of FAM58A
IUGR and IGF abnormalities SOX3 Louise Daugherty commented on SOX3
Severe early-onset obesity PHF6 Louise Daugherty commented on PHF6
Intellectual disability SZT2 Rebecca Foulger commented on SZT2
Intellectual disability SZT2 Rebecca Foulger commented on SZT2
Intellectual disability SZT2 Rebecca Foulger commented on SZT2
Intellectual disability SMARCA1 Louise Daugherty commented on SMARCA1
Primary ovarian insufficiency PGRMC1 Louise Daugherty commented on PGRMC1
Head and neck cancer pertinent cancer susceptibility FANCB Louise Daugherty commented on FANCB
Intellectual disability TAF13 Ellen McDonagh classified TAF13 as amber
Intellectual disability TAF13 Ellen McDonagh added TAF13 to panel
Intellectual disability TAF13 Ellen McDonagh reviewed TAF13
Intellectual disability STT3A Rebecca Foulger commented on STT3A
Clefting DDX3X Louise Daugherty commented on DDX3X
Primary ciliary disorders RPGR Louise Daugherty commented on RPGR
Malformations of cortical development TSC2 Ellen McDonagh classified TSC2 as red
Malformations of cortical development TSC2 Ellen McDonagh added TSC2 to panel
Malformations of cortical development TSC2 Ellen McDonagh reviewed TSC2
Malformations of cortical development TSC1 Ellen McDonagh classified TSC1 as amber
Malformations of cortical development TSC1 Ellen McDonagh added TSC1 to panel
Malformations of cortical development TSC1 Ellen McDonagh reviewed TSC1
Intellectual disability MTOR Ellen McDonagh classified MTOR as amber
Intellectual disability MTOR Ellen McDonagh commented on MTOR
Malformations of cortical development MTOR Ellen McDonagh classified MTOR as amber
Malformations of cortical development MTOR Ellen McDonagh added MTOR to panel
Malformations of cortical development MTOR Ellen McDonagh reviewed MTOR
Ocular coloboma PIGL Louise Daugherty commented on PIGL
Ocular coloboma PIGL Ellen McDonagh commented on PIGL
Pneumothorax - familial SERPINA1 Ellen McDonagh marked SERPINA1 as ready
Pneumothorax - familial SERPINA1 Ellen McDonagh classified SERPINA1 as green
IUGR and IGF abnormalities ERCC6 Louise Daugherty commented on ERCC6
Nephrocalcinosis or nephrolithiasis XDH Louise Daugherty reviewed XDH
Primary ciliary disorders CCDC151 Louise Daugherty commented on CCDC151
Rare syndromic craniosynostosis or isolated multisuture synostosis KAT6A Louise Daugherty commented on KAT6A
Rare syndromic craniosynostosis or isolated multisuture synostosis CDC45 Louise Daugherty commented on CDC45
Rare syndromic craniosynostosis or isolated multisuture synostosis ASXL1 Louise Daugherty commented on ASXL1
Intellectual disability SPTBN2 Rebecca Foulger commented on SPTBN2
Intellectual disability SPTBN2 Rebecca Foulger commented on SPTBN2
Intellectual disability SPTBN2 Rebecca Foulger commented on SPTBN2
Retinal disorders C21orf2 Rebecca Foulger classified C21orf2 as green
Retinal disorders C21orf2 Rebecca Foulger edited their review of C21orf2
Retinal disorders GPR143 Rebecca Foulger classified GPR143 as green
Retinal disorders GPR143 Rebecca Foulger commented on GPR143
Retinal disorders SLC38A8 Rebecca Foulger classified SLC38A8 as green
Retinal disorders SLC38A8 Rebecca Foulger commented on SLC38A8
Retinal disorders GPR143 Chris Campbell reviewed GPR143
Retinal disorders SLC38A8 Chris Campbell reviewed SLC38A8
Intellectual disability SPG20 Rebecca Foulger commented on SPG20
Intellectual disability SPG20 Rebecca Foulger commented on SPG20
Intellectual disability SPG20 Rebecca Foulger commented on SPG20
Intellectual disability SPG20 Rebecca Foulger commented on SPG20
Pain syndromes Louise Daugherty promoted panel to version 1
Pain syndromes PRNP Louise Daugherty commented on PRNP
Pain syndromes MPV17 Louise Daugherty edited their review of MPV17
Pain syndromes MPV17 Arianna Tucci edited their review of MPV17
Pain syndromes PRNP Arianna Tucci marked PRNP as ready
Pain syndromes PRNP Arianna Tucci classified PRNP as green
Pain syndromes PRNP Arianna Tucci added PRNP to panel
Pain syndromes PRNP Arianna Tucci reviewed PRNP
Pain syndromes GLA Arianna Tucci marked GLA as ready
Pain syndromes GLA Arianna Tucci classified GLA as green
Pain syndromes GLA Arianna Tucci added GLA to panel
Pain syndromes GLA Arianna Tucci reviewed GLA
Pain syndromes TRPA1 Arianna Tucci commented on TRPA1
Intellectual disability HTT Ellen McDonagh marked HTT as ready
Intellectual disability HTT Ellen McDonagh edited their review of HTT
Intellectual disability HTT Ellen McDonagh commented on HTT
Amelogenesis imperfecta LAMA3 Rebecca Foulger marked LAMA3 as ready
Amelogenesis imperfecta LAMA3 Rebecca Foulger classified LAMA3 as green
Amelogenesis imperfecta FAM20C Claire Smith reviewed FAM20C
Amelogenesis imperfecta LAMC2 Claire Smith reviewed LAMC2
Amelogenesis imperfecta CNNM4 Claire Smith reviewed CNNM4
Intellectual disability RPS23 Ellen McDonagh classified RPS23 as amber
Intellectual disability RPS23 Ellen McDonagh added RPS23 to panel
Intellectual disability RPS23 Ellen McDonagh reviewed RPS23
Skeletal dysplasia EXTL3 Ellen McDonagh classified EXTL3 as green
Skeletal dysplasia EXTL3 Ellen McDonagh added EXTL3 to panel
Skeletal dysplasia EXTL3 Ellen McDonagh reviewed EXTL3
Intellectual disability EXTL3 Ellen McDonagh classified EXTL3 as green
Intellectual disability EXTL3 Ellen McDonagh commented on EXTL3
Intellectual disability TRIP13 Sarah Leigh added TRIP13 to panel
Intellectual disability TRIP13 Sarah Leigh reviewed TRIP13
Cystic kidney disease COL4A1 Ellen McDonagh classified COL4A1 as green
Cystic kidney disease COL4A1 Ellen McDonagh classified COL4A1 as green
Cystic kidney disease COL4A1 Ellen McDonagh classified COL4A1 as green
Differences in sex development SGPL1 Sarah Leigh classified SGPL1 as amber
Intellectual disability SGPL1 Sarah Leigh classified SGPL1 as green
Fetal hydrops SGPL1 Sarah Leigh classified SGPL1 as green
Unexplained kidney failure in young people SGPL1 Sarah Leigh classified SGPL1 as green
Proteinuric renal disease SGPL1 Sarah Leigh classified SGPL1 as green
Monogenic hearing loss SGPL1 Sarah Leigh classified SGPL1 as green
Differences in sex development SGPL1 Sarah Leigh added SGPL1 to panel
Differences in sex development SGPL1 Sarah Leigh reviewed SGPL1
Intellectual disability SGPL1 Sarah Leigh added SGPL1 to panel
Intellectual disability SGPL1 Sarah Leigh reviewed SGPL1
Fetal hydrops SGPL1 Sarah Leigh added SGPL1 to panel
Fetal hydrops SGPL1 Sarah Leigh reviewed SGPL1
Unexplained kidney failure in young people SGPL1 Sarah Leigh added SGPL1 to panel
Unexplained kidney failure in young people SGPL1 Sarah Leigh reviewed SGPL1
Proteinuric renal disease SGPL1 Sarah Leigh added SGPL1 to panel
Proteinuric renal disease SGPL1 Sarah Leigh reviewed SGPL1
Monogenic hearing loss SGPL1 Sarah Leigh added SGPL1 to panel
Monogenic hearing loss SGPL1 Sarah Leigh reviewed SGPL1
Intellectual disability EED Sarah Leigh classified EED as green
Skeletal dysplasia EED Sarah Leigh classified EED as green
Skeletal dysplasia EED Sarah Leigh classified EED as green
Intellectual disability EED Sarah Leigh added EED to panel
Intellectual disability EED Sarah Leigh reviewed EED
Skeletal dysplasia EED Sarah Leigh added EED to panel
Skeletal dysplasia EED Sarah Leigh reviewed EED
Bilateral congenital or childhood onset cataracts EED Sarah Leigh classified EED as green
Bilateral congenital or childhood onset cataracts EED Sarah Leigh added EED to panel
Bilateral congenital or childhood onset cataracts EED Sarah Leigh reviewed EED
Intellectual disability HIST1H1E Rebecca Foulger classified HIST1H1E as green
Intellectual disability HIST1H1E Rebecca Foulger commented on HIST1H1E
Intellectual disability HIST1H1E Rebecca Foulger added HIST1H1E to panel
Intellectual disability HIST1H1E Rebecca Foulger reviewed HIST1H1E
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Rebecca Foulger classified HIST1H1E as green
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Rebecca Foulger edited their review of HIST1H1E
Hereditary spastic paraplegia AP5Z1 Jo Martindale reviewed AP5Z1
Hereditary spastic paraplegia SLC25A46 Sarah Leigh classified SLC25A46 as green
Hereditary spastic paraplegia SLC25A46 Sarah Leigh added SLC25A46 to panel
Hereditary spastic paraplegia SLC25A46 Sarah Leigh reviewed SLC25A46
Skeletal dysplasia GPC6 Sarah Leigh edited their review of GPC6
Pneumothorax - familial SERPINA1 Ellen McDonagh commented on SERPINA1
Pneumothorax - familial SERPINA1 Benjamin Raby reviewed SERPINA1
Intellectual disability MT-TP Louise Daugherty commented on MT-TP
Monogenic hearing loss FAM65B Louise Daugherty commented on FAM65B
CAKUT PBX1 Olivia Niblock marked PBX1 as ready
CAKUT PBX1 Olivia Niblock classified PBX1 as green
Intellectual disability INPP5E Louise Daugherty commented on INPP5E
Optic neuropathy SLC25A46 Sarah Leigh classified SLC25A46 as green
Optic neuropathy SLC25A46 Sarah Leigh edited their review of SLC25A46
Optic neuropathy SLC25A46 Sarah Leigh added SLC25A46 to panel
Optic neuropathy SLC25A46 Sarah Leigh reviewed SLC25A46
Stickler syndrome GZF1 Sarah Leigh classified GZF1 as green
Stickler syndrome GZF1 Sarah Leigh added GZF1 to panel
Stickler syndrome GZF1 Sarah Leigh reviewed GZF1
CAKUT PBX1 Olivia Niblock classified PBX1 as amber
Familial disseminated superficial actinic porokeratosis Rebecca Foulger promoted panel to version 1
Familial disseminated superficial actinic porokeratosis MVD Rebecca Foulger classified MVD as green
Familial disseminated superficial actinic porokeratosis MVD Rebecca Foulger classified MVD as red
Familial disseminated superficial actinic porokeratosis FDPS Rebecca Foulger classified FDPS as green
Familial disseminated superficial actinic porokeratosis FDPS Rebecca Foulger commented on FDPS
Familial disseminated superficial actinic porokeratosis FDPS Rebecca Foulger commented on FDPS
Hereditary ataxia DAB1 Sarah Leigh edited their review of DAB1
CAKUT PBX1 Olivia Niblock added PBX1 to panel
CAKUT PBX1 Olivia Niblock reviewed PBX1
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Sarah Leigh classified EED as green
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Sarah Leigh commented on EED
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders EED Sarah Leigh reviewed EED
Severe microcephaly RPL10 Sarah Leigh classified RPL10 as green
Severe microcephaly RPL10 Sarah Leigh commented on RPL10
IUGR and IGF abnormalities RPL10 Sarah Leigh classified RPL10 as green
Undiagnosed metabolic disorders RPL10 Sarah Leigh classified RPL10 as green
Differences in sex development RPL10 Sarah Leigh classified RPL10 as green
Severe microcephaly RPL10 Sarah Leigh added RPL10 to panel
Severe microcephaly RPL10 Sarah Leigh reviewed RPL10
Undiagnosed metabolic disorders RPL10 Sarah Leigh added RPL10 to panel
IUGR and IGF abnormalities RPL10 Sarah Leigh added RPL10 to panel
IUGR and IGF abnormalities RPL10 Sarah Leigh reviewed RPL10
Undiagnosed metabolic disorders RPL10 Sarah Leigh reviewed RPL10
Differences in sex development RPL10 Sarah Leigh added RPL10 to panel
Differences in sex development RPL10 Sarah Leigh reviewed RPL10
VACTERL-like phenotypes KYNU Ellen McDonagh classified KYNU as green
Undiagnosed metabolic disorders KYNU Ellen McDonagh classified KYNU as green
CAKUT KYNU Ellen McDonagh classified KYNU as green
Monogenic hearing loss HAAO Ellen McDonagh classified HAAO as green
Intellectual disability SLC30A9 Sarah Leigh added SLC30A9 to panel
Intellectual disability SLC30A9 Sarah Leigh reviewed SLC30A9
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders HIST1H1E Rebecca Foulger commented on HIST1H1E
VACTERL-like phenotypes HAAO Ellen McDonagh classified HAAO as green
Undiagnosed metabolic disorders HAAO Ellen McDonagh classified HAAO as green
CAKUT HAAO Ellen McDonagh classified HAAO as green
Intellectual disability HTRA2 Sarah Leigh classified HTRA2 as green
Monogenic hearing loss HTRA2 Sarah Leigh classified HTRA2 as amber
Monogenic hearing loss HTRA2 Sarah Leigh classified HTRA2 as amber
Bilateral congenital or childhood onset cataracts HTRA2 Sarah Leigh classified HTRA2 as green
Congenital myopathy HTRA2 Sarah Leigh classified HTRA2 as green
Early onset dystonia HTRA2 Sarah Leigh classified HTRA2 as green
Monogenic hearing loss HTRA2 Sarah Leigh commented on HTRA2
Intellectual disability HTRA2 Sarah Leigh added HTRA2 to panel
Intellectual disability HTRA2 Sarah Leigh reviewed HTRA2
Bilateral congenital or childhood onset cataracts HTRA2 Sarah Leigh added HTRA2 to panel
Bilateral congenital or childhood onset cataracts HTRA2 Sarah Leigh reviewed HTRA2
Congenital myopathy HTRA2 Sarah Leigh added HTRA2 to panel
Congenital myopathy HTRA2 Sarah Leigh reviewed HTRA2
Early onset dystonia HTRA2 Sarah Leigh added HTRA2 to panel
Early onset dystonia HTRA2 Sarah Leigh reviewed HTRA2
Monogenic hearing loss HTRA2 Sarah Leigh added HTRA2 to panel
Monogenic hearing loss HTRA2 Sarah Leigh reviewed HTRA2
Undiagnosed metabolic disorders HTRA2 Sarah Leigh classified HTRA2 as green
Congenital myopathy TMEM8C Sarah Leigh classified TMEM8C as green
Hydrocephalus TMEM8C Sarah Leigh classified TMEM8C as green
Congenital muscular dystrophy TMEM8C Sarah Leigh classified TMEM8C as green
Arthrogryposis TMEM8C Sarah Leigh classified TMEM8C as green
Hydrocephalus TMEM8C Sarah Leigh added TMEM8C to panel
Hydrocephalus TMEM8C Sarah Leigh reviewed TMEM8C
Congenital muscular dystrophy TMEM8C Sarah Leigh added TMEM8C to panel
Congenital muscular dystrophy TMEM8C Sarah Leigh reviewed TMEM8C
Arthrogryposis TMEM8C Sarah Leigh added TMEM8C to panel
Arthrogryposis TMEM8C Sarah Leigh reviewed TMEM8C
Congenital myopathy TMEM8C Sarah Leigh added TMEM8C to panel
Congenital myopathy TMEM8C Sarah Leigh reviewed TMEM8C
Cerebellar hypoplasia DCC Sarah Leigh classified DCC as amber
Ehlers Danlos syndrome with a likely monogenic cause DCC Sarah Leigh classified DCC as amber
Cerebellar hypoplasia DCC Sarah Leigh added DCC to panel
Cerebellar hypoplasia DCC Sarah Leigh reviewed DCC
Ehlers Danlos syndrome with a likely monogenic cause DCC Sarah Leigh added DCC to panel
Ehlers Danlos syndrome with a likely monogenic cause DCC Sarah Leigh reviewed DCC
Intellectual disability DCC Sarah Leigh reviewed DCC
Intellectual disability OGT Rebecca Foulger classified OGT as green
Intellectual disability ROBO3 Sarah Leigh reviewed ROBO3
Cerebellar hypoplasia ROBO3 Sarah Leigh classified ROBO3 as green
Cerebellar hypoplasia ROBO3 Sarah Leigh added ROBO3 to panel
Cerebellar hypoplasia ROBO3 Sarah Leigh reviewed ROBO3
Ehlers Danlos syndrome with a likely monogenic cause ROBO3 Sarah Leigh classified ROBO3 as green
Ehlers Danlos syndrome with a likely monogenic cause ROBO3 Sarah Leigh added ROBO3 to panel
Ehlers Danlos syndrome with a likely monogenic cause ROBO3 Sarah Leigh reviewed ROBO3
Familial disseminated superficial actinic porokeratosis SLC17A9 Rebecca Foulger commented on SLC17A9
Familial disseminated superficial actinic porokeratosis SART3 Rebecca Foulger commented on SART3
Familial disseminated superficial actinic porokeratosis MVD Rebecca Foulger commented on MVD
Monogenic hearing loss DFNA5 Louise Daugherty commented on DFNA5
Intellectual disability C4orf26 Louise Daugherty edited their review of C4orf26
Amelogenesis imperfecta C4orf26 Louise Daugherty commented on C4orf26
Amelogenesis imperfecta AMBN Rebecca Foulger marked AMBN as ready
Amelogenesis imperfecta AMBN Rebecca Foulger edited their review of AMBN
Amelogenesis imperfecta AMBN Rebecca Foulger classified AMBN as green
Parkinson Disease and Complex Parkinsonism EPHB4 Louise Daugherty classified EPHB4 as grey
Parkinson Disease and Complex Parkinsonism EPHB4 Louise Daugherty classified EPHB4 as red
Familial Hirschsprung Disease EDNRB Rebecca Foulger marked EDNRB as ready
Skeletal dysplasia GZF1 Sarah Leigh classified GZF1 as green
Skeletal dysplasia GZF1 Sarah Leigh added GZF1 to panel
Skeletal dysplasia GZF1 Sarah Leigh reviewed GZF1
Severe microcephaly DONSON Sarah Leigh classified DONSON as green
Severe microcephaly DONSON Sarah Leigh reviewed DONSON
Retinal disorders HGSNAT Ellen Thomas edited their review of HGSNAT
Retinal disorders HGSNAT Ellen Thomas added HGSNAT to panel
Retinal disorders HGSNAT Ellen Thomas reviewed HGSNAT
Congenital myopathy LGI4 Louise Daugherty classified LGI4 as green
Arthrogryposis LGI4 Louise Daugherty classified LGI4 as green
Malformations of cortical development SMO Louise Daugherty classified SMO as green
Malformations of cortical development SMO Louise Daugherty commented on SMO
Malformations of cortical development SMO Louise Daugherty commented on SMO
Malformations of cortical development SMO Louise Daugherty added SMO to panel
Malformations of cortical development SMO Louise Daugherty reviewed SMO
Anophthalmia or microphthalmia SMO Louise Daugherty classified SMO as green
Anophthalmia or microphthalmia SMO Louise Daugherty commented on SMO
Anophthalmia or microphthalmia SMO Louise Daugherty commented on SMO
Anophthalmia or microphthalmia SMO Louise Daugherty added SMO to panel
Anophthalmia or microphthalmia SMO Louise Daugherty reviewed SMO
Ocular coloboma SMO Louise Daugherty commented on SMO
Ocular coloboma SMO Louise Daugherty classified SMO as green
Ocular coloboma SMO Louise Daugherty commented on SMO
Ocular coloboma SMO Louise Daugherty commented on SMO
Rare syndromic craniosynostosis or isolated multisuture synostosis SMO Louise Daugherty commented on SMO
Rare syndromic craniosynostosis or isolated multisuture synostosis SMO Louise Daugherty classified SMO as green
Familial Hirschsprung Disease GDNF Rebecca Foulger marked GDNF as ready
Inherited ovarian cancer (without breast cancer) RAD51D Treena Cranston reviewed RAD51D
Inherited ovarian cancer (without breast cancer) RAD51C Treena Cranston reviewed RAD51C
Inherited ovarian cancer (without breast cancer) MSH6 Treena Cranston reviewed MSH6
Inherited ovarian cancer (without breast cancer) MSH2 Treena Cranston reviewed MSH2
Inherited ovarian cancer (without breast cancer) MLH1 Treena Cranston reviewed MLH1
Inherited ovarian cancer (without breast cancer) BRIP1 Treena Cranston reviewed BRIP1
Inherited ovarian cancer (without breast cancer) BRCA2 Treena Cranston reviewed BRCA2
Inherited ovarian cancer (without breast cancer) BRCA1 Treena Cranston reviewed BRCA1
Familial breast cancer RAD51C Treena Cranston reviewed RAD51C
Familial breast cancer RAD51D Treena Cranston reviewed RAD51D
Intellectual disability SLC45A1 Rebecca Foulger commented on SLC45A1
Intellectual disability SLC45A1 Rebecca Foulger commented on SLC45A1
Intellectual disability SLC45A1 Rebecca Foulger added SLC45A1 to panel
Intellectual disability SLC45A1 Rebecca Foulger reviewed SLC45A1
Retinal disorders C21orf2 Rebecca Foulger commented on C21orf2
Early onset dystonia GNAO1 Rebecca Foulger classified GNAO1 as green
Early onset dystonia GNAO1 Rebecca Foulger commented on GNAO1
Early onset dystonia GNAO1 Rebecca Foulger added GNAO1 to panel
Early onset dystonia GNAO1 Rebecca Foulger reviewed GNAO1
Inherited bleeding disorders LAT Rebecca Foulger classified LAT as amber
Inherited bleeding disorders LAT Rebecca Foulger added LAT to panel
Inherited bleeding disorders LAT Rebecca Foulger reviewed LAT
Cytopenias and congenital anaemias LAT Rebecca Foulger classified LAT as amber
Cytopenias and congenital anaemias LAT Rebecca Foulger added LAT to panel
Cytopenias and congenital anaemias LAT Rebecca Foulger reviewed LAT
Familial Hirschsprung Disease BACE2 Rebecca Foulger marked BACE2 as ready
Severe microcephaly PLAA Rebecca Foulger classified PLAA as red
Severe microcephaly PLAA Rebecca Foulger commented on PLAA
Severe microcephaly PLAA Rebecca Foulger commented on PLAA
Severe microcephaly PLAA Rebecca Foulger added PLAA to panel
Severe microcephaly PLAA Rebecca Foulger reviewed PLAA
Amelogenesis imperfecta GPR68 Rebecca Foulger edited their review of GPR68
Amelogenesis imperfecta GPR68 Rebecca Foulger classified GPR68 as green
Amelogenesis imperfecta GPR68 Rebecca Foulger commented on GPR68
Familial Hirschsprung Disease SEMA3A Rebecca Foulger marked SEMA3A as ready
Familial Hirschsprung Disease SEMA3A Rebecca Foulger classified SEMA3A as red
Familial Hirschsprung Disease SEMA3A Rebecca Foulger commented on SEMA3A
Familial Hirschsprung Disease SEMA3D Rebecca Foulger classified SEMA3D as amber
Familial Hirschsprung Disease SEMA3C Rebecca Foulger classified SEMA3C as amber
Familial Hirschsprung Disease SAMD9 Rebecca Foulger marked SAMD9 as ready
Familial Hirschsprung Disease SAMD9 Rebecca Foulger commented on SAMD9
Familial Hirschsprung Disease NKX2-1 Rebecca Foulger classified NKX2-1 as amber
Familial Hirschsprung Disease CELSR3 Rebecca Foulger classified CELSR3 as amber
Cytopenias and congenital anaemias DNAJC21 Olivia Niblock added DNAJC21 to panel
Cytopenias and congenital anaemias DNAJC21 Olivia Niblock reviewed DNAJC21
Congenital disorders of glycosylation NGLY1 Sarah Leigh edited their review of NGLY1
Intellectual disability RPL10 Sarah Leigh classified RPL10 as green
Intellectual disability RPL10 Sarah Leigh classified RPL10 as green
Intellectual disability RPL10 Sarah Leigh reviewed RPL10
Congenital disorders of glycosylation NGLY1 Sarah Leigh classified NGLY1 as green
Congenital disorders of glycosylation NGLY1 Sarah Leigh reviewed NGLY1
Retinal disorders CTNNB1 Sarah Leigh classified CTNNB1 as green
Primary ovarian insufficiency ERAL1 Sarah Leigh added ERAL1 to panel
Primary ovarian insufficiency ERAL1 Sarah Leigh reviewed ERAL1
Monogenic hearing loss ERAL1 Sarah Leigh added ERAL1 to panel
Monogenic hearing loss ERAL1 Sarah Leigh reviewed ERAL1
Intellectual disability SLC39A14 Sarah Leigh classified SLC39A14 as green
Skeletal dysplasia MCM5 Sarah Leigh added MCM5 to panel
Skeletal dysplasia MCM5 Sarah Leigh reviewed MCM5
IUGR and IGF abnormalities MCM5 Sarah Leigh added MCM5 to panel
IUGR and IGF abnormalities MCM5 Sarah Leigh reviewed MCM5
Hereditary spastic paraplegia NKX6-2 Sarah Leigh classified NKX6-2 as green
Hereditary spastic paraplegia NKX6-2 Sarah Leigh added NKX6-2 to panel
Hereditary spastic paraplegia NKX6-2 Sarah Leigh reviewed NKX6-2
Early onset dystonia NKX6-2 Sarah Leigh classified NKX6-2 as green
Early onset dystonia NKX6-2 Sarah Leigh added NKX6-2 to panel
Early onset dystonia NKX6-2 Sarah Leigh reviewed NKX6-2
Inherited white matter disorders NKX6-2 Sarah Leigh classified NKX6-2 as green
Inherited white matter disorders NKX6-2 Sarah Leigh added NKX6-2 to panel
Inherited white matter disorders NKX6-2 Sarah Leigh reviewed NKX6-2
Skeletal dysplasia YY1 Sarah Leigh classified YY1 as green
Skeletal dysplasia YY1 Sarah Leigh added YY1 to panel
Skeletal dysplasia YY1 Sarah Leigh reviewed YY1
Early onset dystonia YY1 Sarah Leigh classified YY1 as green
Early onset dystonia YY1 Sarah Leigh added YY1 to panel
Early onset dystonia YY1 Sarah Leigh reviewed YY1
Intellectual disability YY1 Sarah Leigh edited their review of YY1
Intellectual disability YY1 Sarah Leigh edited their review of YY1
Hereditary ataxia DAB1 Sarah Leigh reviewed DAB1
Childhood solid tumours TRIP13 Sarah Leigh classified TRIP13 as green
Childhood solid tumours TRIP13 Sarah Leigh added TRIP13 to panel
Childhood solid tumours TRIP13 Sarah Leigh reviewed TRIP13
Rare multisystem ciliopathy disorders CFAP44 Sarah Leigh added CFAP44 to panel
Rare multisystem ciliopathy disorders CFAP44 Sarah Leigh reviewed CFAP44
Rare multisystem ciliopathy disorders CFAP43 Sarah Leigh classified CFAP43 as green
Rare multisystem ciliopathy disorders CFAP43 Sarah Leigh added CFAP43 to panel
Rare multisystem ciliopathy disorders CFAP43 Sarah Leigh reviewed CFAP43
Familial Hirschsprung Disease SAMD9 Helen Brittain reviewed SAMD9
Rare multisystem ciliopathy disorders DNAH1 Sarah Leigh classified DNAH1 as green
Rare multisystem ciliopathy disorders DNAH1 Sarah Leigh added DNAH1 to panel
Rare multisystem ciliopathy disorders DNAH1 Sarah Leigh reviewed DNAH1
Primary ciliary disorders DNAH1 Sarah Leigh reviewed DNAH1
Undiagnosed metabolic disorders HTRA2 Sarah Leigh added HTRA2 to panel
Undiagnosed metabolic disorders HTRA2 Sarah Leigh reviewed HTRA2
Mitochondrial disorders HTRA2 Sarah Leigh classified HTRA2 as green
Mitochondrial disorders HTRA2 Sarah Leigh added HTRA2 to panel
Mitochondrial disorders HTRA2 Sarah Leigh reviewed HTRA2
Clefting TMEM8C Sarah Leigh classified TMEM8C as green
Clefting TMEM8C Sarah Leigh added TMEM8C to panel
Clefting TMEM8C Sarah Leigh reviewed TMEM8C
Cytopenias and congenital anaemias MASTL Sarah Leigh reviewed MASTL
Retinal disorders CTNNB1 Sarah Leigh added CTNNB1 to panel
Retinal disorders CTNNB1 Sarah Leigh reviewed CTNNB1
Autosomal recessive congenital ichthyosis SULT2B1 Sarah Leigh classified SULT2B1 as green
Autosomal recessive congenital ichthyosis SDR9C7 Sarah Leigh classified SDR9C7 as green
Autosomal recessive congenital ichthyosis SDR9C7 Sarah Leigh added SDR9C7 to panel
Autosomal recessive congenital ichthyosis SDR9C7 Sarah Leigh reviewed SDR9C7
Intellectual disability MEF2C Louise Daugherty edited their review of MEF2C
Intellectual disability MEF2C Louise Daugherty commented on MEF2C
Intellectual disability OTUD6B Louise Daugherty classified OTUD6B as green
Intellectual disability OTUD6B Louise Daugherty edited their review of OTUD6B
Familial cicatricial alopecia SDR9C7 Sarah Leigh commented on SDR9C7
Familial cicatricial alopecia SDR9C7 Sarah Leigh reviewed SDR9C7
Intellectual disability PPM1D Louise Daugherty edited their review of PPM1D
Intellectual disability PPM1D Louise Daugherty commented on PPM1D
Autosomal recessive congenital ichthyosis SULT2B1 Sarah Leigh added SULT2B1 to panel
Autosomal recessive congenital ichthyosis SULT2B1 Sarah Leigh reviewed SULT2B1
Congenital myopathy LGI4 Louise Daugherty added LGI4 to panel
Congenital myopathy LGI4 Louise Daugherty reviewed LGI4
Arthrogryposis LGI4 Louise Daugherty added LGI4 to panel
Arthrogryposis LGI4 Louise Daugherty reviewed LGI4
Rare multisystem ciliopathy disorders TMEM107 Sarah Leigh marked TMEM107 as ready
Rare multisystem ciliopathy disorders TMEM107 Sarah Leigh commented on TMEM107
Rare multisystem ciliopathy disorders TMEM107 Sarah Leigh classified TMEM107 as green
Intellectual disability LGI4 Louise Daugherty classified LGI4 as green
Differences in sex development ERAL1 Sarah Leigh added ERAL1 to panel
Differences in sex development ERAL1 Sarah Leigh reviewed ERAL1
Intellectual disability LGI4 Louise Daugherty edited their review of LGI4
Intellectual disability OGT Rebecca Foulger commented on OGT
Intellectual disability OGT Rebecca Foulger commented on OGT
Intellectual disability PLAA Rebecca Foulger classified PLAA as green
Radial dysplasia DACT1 Louise Daugherty added DACT1 to panel
Radial dysplasia DACT1 Louise Daugherty reviewed DACT1
Intellectual disability PLAA Rebecca Foulger commented on PLAA
Intellectual disability PLAA Rebecca Foulger edited their review of PLAA
Deafness and congenital structural abnormalities DACT1 Louise Daugherty added DACT1 to panel
Deafness and congenital structural abnormalities DACT1 Louise Daugherty reviewed DACT1
Unexplained kidney failure in young people DACT1 Louise Daugherty added DACT1 to panel
Unexplained kidney failure in young people DACT1 Louise Daugherty reviewed DACT1
Intellectual disability PLAA Rebecca Foulger commented on PLAA
Differences in sex development MCM5 Sarah Leigh added MCM5 to panel
Differences in sex development MCM5 Sarah Leigh reviewed MCM5
Skeletal dysplasia DACT1 Louise Daugherty added DACT1 to panel
Skeletal dysplasia DACT1 Louise Daugherty reviewed DACT1
Intellectual disability ARHGEF2 Rebecca Foulger classified ARHGEF2 as red
Intellectual disability ARHGEF2 Rebecca Foulger added ARHGEF2 to panel
Intellectual disability ARHGEF2 Rebecca Foulger reviewed ARHGEF2
Palmoplantar keratoderma and erythrokeratodermas KDSR Rebecca Foulger classified KDSR as green
Palmoplantar keratoderma and erythrokeratodermas KDSR Rebecca Foulger added KDSR to panel
Palmoplantar keratoderma and erythrokeratodermas KDSR Rebecca Foulger reviewed KDSR
Hereditary ataxia NKX6-2 Sarah Leigh classified NKX6-2 as green
Hereditary ataxia NKX6-2 Sarah Leigh added NKX6-2 to panel
Hereditary ataxia NKX6-2 Sarah Leigh reviewed NKX6-2
Intellectual disability DACT1 Louise Daugherty added DACT1 to panel
Intellectual disability DACT1 Louise Daugherty reviewed DACT1
IUGR and IGF abnormalities ANKRD11 Rebecca Foulger commented on ANKRD11
Monogenic hearing loss DACT1 Louise Daugherty added DACT1 to panel
Monogenic hearing loss DACT1 Louise Daugherty reviewed DACT1
IUGR and IGF abnormalities BLM Rebecca Foulger commented on BLM
IUGR and IGF abnormalities OBSL1 Rebecca Foulger commented on OBSL1
IUGR and IGF abnormalities CUL7 Rebecca Foulger commented on CUL7
IUGR and IGF abnormalities CCDC8 Rebecca Foulger commented on CCDC8
CAKUT DACT1 Louise Daugherty added DACT1 to panel
CAKUT DACT1 Louise Daugherty reviewed DACT1
IUGR and IGF abnormalities SRCAP Rebecca Foulger commented on SRCAP
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Amelogenesis imperfecta LAMA3 Rebecca Foulger commented on LAMA3
Intellectual disability ITGB6 Rebecca Foulger added ITGB6 to panel
Intellectual disability ITGB6 Rebecca Foulger reviewed ITGB6
Amelogenesis imperfecta ITGB6 Rebecca Foulger marked ITGB6 as ready
Amelogenesis imperfecta ITGB6 Rebecca Foulger classified ITGB6 as green
Amelogenesis imperfecta AMTN Rebecca Foulger marked AMTN as ready
Amelogenesis imperfecta AMTN Rebecca Foulger classified AMTN as red
Amelogenesis imperfecta AMBN Rebecca Foulger classified AMBN as amber
Amelogenesis imperfecta AMBN Rebecca Foulger commented on AMBN
Amelogenesis imperfecta ACPT Rebecca Foulger classified ACPT as green
Amelogenesis imperfecta ACPT Rebecca Foulger commented on ACPT
Amelogenesis imperfecta ACPT Rebecca Foulger commented on ACPT
Amelogenesis imperfecta ACPT Rebecca Foulger commented on ACPT
Amelogenesis imperfecta LAMB3 Rebecca Foulger classified LAMB3 as green
Familial Neural Tube Defects HPE1 Louise Daugherty classified HPE1 as grey
Familial Neural Tube Defects HPE1 Louise Daugherty commented on HPE1
Cerebral vascular malformations MYMY1 Louise Daugherty classified MYMY1 as grey
Cerebral vascular malformations MYMY1 Louise Daugherty commented on MYMY1
Ocular and oculo-cutaneous albinism OCA5 Louise Daugherty classified OCA5 as grey
Ocular and oculo-cutaneous albinism OCA5 Louise Daugherty commented on OCA5
Optic neuropathy OPA2 Louise Daugherty classified OPA2 as grey
Optic neuropathy OPA2 Louise Daugherty commented on OPA2
Cerebral vascular malformations MYMY3 Louise Daugherty classified MYMY3 as grey
Cerebral vascular malformations MYMY3 Louise Daugherty commented on MYMY3
Optic neuropathy OPA4 Louise Daugherty classified OPA4 as grey
Optic neuropathy OPA4 Louise Daugherty commented on OPA4
Hereditary spastic paraplegia SPG14 Louise Daugherty classified SPG14 as grey
Hereditary spastic paraplegia SPG14 Louise Daugherty commented on SPG14
Hereditary spastic paraplegia SPG16 Louise Daugherty classified SPG16 as grey
Hereditary spastic paraplegia SPG16 Louise Daugherty commented on SPG16
Hereditary spastic paraplegia SPG19 Louise Daugherty classified SPG19 as grey
Hereditary spastic paraplegia SPG19 Louise Daugherty commented on SPG19
Rare syndromic craniosynostosis or isolated multisuture synostosis SMO Louise Daugherty edited their review of SMO
Amelogenesis imperfecta LAMB3 Rebecca Foulger commented on LAMB3
Amelogenesis imperfecta KLK4 Rebecca Foulger marked KLK4 as ready
Amelogenesis imperfecta KLK4 Rebecca Foulger classified KLK4 as green
Amelogenesis imperfecta KLK4 Rebecca Foulger commented on KLK4
Amelogenesis imperfecta FAM83H Rebecca Foulger marked FAM83H as ready
Amelogenesis imperfecta FAM83H Rebecca Foulger classified FAM83H as green
Amelogenesis imperfecta FAM83H Rebecca Foulger commented on FAM83H
Amelogenesis imperfecta FAM20A Rebecca Foulger marked FAM20A as ready
Amelogenesis imperfecta FAM20A Rebecca Foulger classified FAM20A as green
Amelogenesis imperfecta WDR72 Rebecca Foulger marked WDR72 as ready
Amelogenesis imperfecta WDR72 Rebecca Foulger classified WDR72 as green
Amelogenesis imperfecta WDR72 Rebecca Foulger commented on WDR72
Amelogenesis imperfecta MMP20 Rebecca Foulger marked MMP20 as ready
Amelogenesis imperfecta C4orf26 Rebecca Foulger marked C4orf26 as ready
Amelogenesis imperfecta C4orf26 Rebecca Foulger classified C4orf26 as green
Familial Hirschsprung Disease BACE2 Rebecca Foulger classified BACE2 as red
Familial Hirschsprung Disease BACE2 Rebecca Foulger commented on BACE2
Familial Hirschsprung Disease BACE2 Merce Garcia-Barcelo reviewed BACE2
Optic neuropathy OPA8 Louise Daugherty classified OPA8 as grey
Optic neuropathy OPA8 Louise Daugherty commented on OPA8
Optic neuropathy OPA6 Louise Daugherty classified OPA6 as grey
Optic neuropathy OPA6 Louise Daugherty commented on OPA6
Optic neuropathy OPA5 Louise Daugherty classified OPA5 as grey
Optic neuropathy OPA5 Louise Daugherty commented on OPA5
Hereditary spastic paraplegia SPG29 Louise Daugherty classified SPG29 as grey
Hereditary spastic paraplegia SPG29 Louise Daugherty commented on SPG29
Hereditary spastic paraplegia SPG27 Louise Daugherty classified SPG27 as grey
Hereditary spastic paraplegia SPG27 Louise Daugherty commented on SPG27
Hereditary spastic paraplegia SPG25 Louise Daugherty classified SPG25 as grey
Hereditary spastic paraplegia SPG25 Louise Daugherty commented on SPG25
Hereditary spastic paraplegia SPG24 Louise Daugherty classified SPG24 as grey
Hereditary spastic paraplegia SPG24 Louise Daugherty commented on SPG24
Hereditary spastic paraplegia SPG23 Louise Daugherty classified SPG23 as grey
Hereditary spastic paraplegia SPG23 Louise Daugherty commented on SPG23
Hereditary spastic paraplegia SPG32 Louise Daugherty classified SPG32 as grey
Hereditary spastic paraplegia SPG32 Louise Daugherty commented on SPG32
Hereditary spastic paraplegia SPG34 Louise Daugherty classified SPG34 as grey
Hereditary spastic paraplegia SPG34 Louise Daugherty commented on SPG34
Hereditary spastic paraplegia SPG36 Louise Daugherty classified SPG36 as grey
Hereditary spastic paraplegia SPG36 Louise Daugherty commented on SPG36
Hereditary spastic paraplegia SPG37 Louise Daugherty classified SPG37 as grey
Hereditary spastic paraplegia SPG37 Louise Daugherty commented on SPG37
Hereditary spastic paraplegia SPG38 Louise Daugherty classified SPG38 as grey
Hereditary spastic paraplegia SPG38 Louise Daugherty commented on SPG38
Hereditary spastic paraplegia SPG41 Louise Daugherty classified SPG41 as grey
Hereditary spastic paraplegia SPG41 Louise Daugherty commented on SPG41
Severe microcephaly TAF13 Ellen McDonagh classified TAF13 as amber
Intellectual disability KCNQ5 Olivia Niblock added KCNQ5 to panel
Intellectual disability KCNQ5 Olivia Niblock reviewed KCNQ5
Severe microcephaly TAF13 Ellen McDonagh added TAF13 to panel
Severe microcephaly TAF13 Ellen McDonagh reviewed TAF13
Clefting FSHMD1A Louise Daugherty classified FSHMD1A as grey
Retinal disorders EVR3 Louise Daugherty classified EVR3 as grey
Retinal disorders EVR3 Louise Daugherty commented on EVR3
Severe microcephaly WDFY3 Rebecca Foulger classified WDFY3 as red
Retinal disorders ARHGEF18 Ellen McDonagh classified ARHGEF18 as green
Severe microcephaly WDFY3 Rebecca Foulger added WDFY3 to panel
Severe microcephaly WDFY3 Rebecca Foulger reviewed WDFY3
Intellectual disability YY1 Sarah Leigh commented on YY1
Severe microcephaly DONSON Olivia Niblock added DONSON to panel
Severe microcephaly DONSON Olivia Niblock reviewed DONSON
Congenital myopathy SPTBN4 Rebecca Foulger classified SPTBN4 as red
Deafness and congenital structural abnormalities DWS Louise Daugherty classified DWS as grey
Deafness and congenital structural abnormalities DWS Louise Daugherty commented on DWS
Congenital myopathy SPTBN4 Rebecca Foulger added SPTBN4 to panel
Congenital myopathy SPTBN4 Rebecca Foulger reviewed SPTBN4
Skeletal dysplasia DCC Sarah Leigh classified DCC as amber
Rare multisystem ciliopathy disorders ATD Louise Daugherty classified ATD as grey
Rare multisystem ciliopathy disorders ATD Louise Daugherty commented on ATD
Cerebral vascular malformations ANIB1 Louise Daugherty classified ANIB1 as grey
Cerebral vascular malformations ANIB1 Louise Daugherty commented on ANIB1
Retinal disorders ARHGEF18 Ellen McDonagh added ARHGEF18 to panel
Retinal disorders ARHGEF18 Ellen McDonagh reviewed ARHGEF18
Skeletal dysplasia DCC Sarah Leigh classified DCC as amber
Ocular and oculo-cutaneous albinism OCA5 Sarah Leigh classified OCA5 as red
Anophthalmia or microphthalmia TMEM98 Louise Daugherty classified TMEM98 as green
Anophthalmia or microphthalmia TMEM98 Louise Daugherty commented on TMEM98
Primary ovarian insufficiency BMPR1B-AS1 Ellen McDonagh classified BMPR1B-AS1 as grey
Primary ovarian insufficiency BMPR1B-AS1 Ellen McDonagh commented on BMPR1B-AS1
Sudden death in young people RYR2 Rebecca Foulger classified RYR2 as grey
Primary ovarian insufficiency BMPR1B Ellen McDonagh classified BMPR1B as amber
Primary ovarian insufficiency BMPR1B Ellen McDonagh commented on BMPR1B
Severe multi-system atopic disease with high IgE CARD11 Sarah Leigh marked CARD11 as ready
Severe multi-system atopic disease with high IgE CARD11 Sarah Leigh classified CARD11 as green
Infantile enterocolitis & monogenic inflammatory bowel disease OTULIN Louise Daugherty classified OTULIN as green
Cystic kidney disease GANAB Ellen McDonagh classified GANAB as green
Cystic kidney disease GANAB Ellen McDonagh commented on GANAB
Periodic fever syndromes OTULIN Rebecca Foulger classified OTULIN as green
Cystic kidney disease GANAB Ellen McDonagh classified GANAB as amber
Periodic fever syndromes OTULIN Rebecca Foulger commented on OTULIN
Infantile enterocolitis & monogenic inflammatory bowel disease OTULIN Louise Daugherty commented on OTULIN
Periodic fever syndromes OTULIN Rebecca Foulger edited their review of OTULIN
Periodic fever syndromes TNFAIP3 Rebecca Foulger classified TNFAIP3 as amber
Cystic kidney disease COL4A1 Ellen McDonagh classified COL4A1 as amber
Cystic kidney disease COL4A1 Ellen McDonagh commented on COL4A1
Periodic fever syndromes TNFAIP3 Rebecca Foulger edited their review of TNFAIP3
Periodic fever syndromes TNFAIP3 Rebecca Foulger commented on TNFAIP3
Rare syndromic craniosynostosis or isolated multisuture synostosis SMO Louise Daugherty classified SMO as amber
Cytopenias and congenital anaemias RPL31 Sarah Leigh classified RPL31 as red
Cytopenias and congenital anaemias RPL13 Sarah Leigh marked RPL13 as ready
Cytopenias and congenital anaemias RPL13 Sarah Leigh commented on RPL13
Cytopenias and congenital anaemias RPL13 Sarah Leigh classified RPL13 as red
Rare syndromic craniosynostosis or isolated multisuture synostosis SMO Louise Daugherty commented on SMO
Periodic fever syndromes OTULIN Rebecca Foulger commented on OTULIN
Skeletal dysplasia DCC Sarah Leigh added DCC to panel
Skeletal dysplasia DCC Sarah Leigh reviewed DCC
Intellectual disability GNAO1 Rebecca Foulger commented on GNAO1
Intellectual disability PSMD12 Rebecca Foulger classified PSMD12 as green
Rare syndromic craniosynostosis or isolated multisuture synostosis SMAD6 Ellen McDonagh classified SMAD6 as red
Rare syndromic craniosynostosis or isolated multisuture synostosis SMAD6 Ellen McDonagh commented on SMAD6
Intellectual disability PSMD12 Rebecca Foulger commented on PSMD12
Rare syndromic craniosynostosis or isolated multisuture synostosis SMAD6 Ellen McDonagh classified SMAD6 as red
Primary ovarian insufficiency MSH5 Ellen McDonagh added MSH5 to panel
Primary ovarian insufficiency MSH5 Ellen McDonagh reviewed MSH5
Primary lymphoedema ZNHIT3 Rebecca Foulger commented on ZNHIT3
Primary lymphoedema ZNHIT3 Rebecca Foulger classified ZNHIT3 as red
Primary lymphoedema ZNHIT3 Rebecca Foulger added ZNHIT3 to panel
Primary lymphoedema ZNHIT3 Rebecca Foulger reviewed ZNHIT3
Palmoplantar keratoderma and erythrokeratodermas ELOVL4 Sarah Leigh added ELOVL4 to panel
Palmoplantar keratoderma and erythrokeratodermas ELOVL4 Sarah Leigh reviewed ELOVL4
Primary lymphoedema CCDC88A Rebecca Foulger classified CCDC88A as red
Primary lymphoedema CCDC88A Rebecca Foulger commented on CCDC88A
Hereditary ataxia ELOVL4 Sarah Leigh classified ELOVL4 as green
Hereditary ataxia ELOVL4 Sarah Leigh added ELOVL4 to panel
Hereditary ataxia ELOVL4 Sarah Leigh reviewed ELOVL4
Intellectual disability PPP1CB Rebecca Foulger classified PPP1CB as green
Intellectual disability PPP1CB Rebecca Foulger classified PPP1CB as green
Intellectual disability PPP1CB Rebecca Foulger classified PPP1CB as green
Intellectual disability PPP1CB Rebecca Foulger commented on PPP1CB
RASopathies PPP1CB Rebecca Foulger classified PPP1CB as green
RASopathies PPP1CB Rebecca Foulger commented on PPP1CB
RASopathies PPP1CB Rebecca Foulger commented on PPP1CB
RASopathies PPP1CB Rebecca Foulger commented on PPP1CB
RASopathies PPP1CB Rebecca Foulger added PPP1CB to panel
RASopathies PPP1CB Rebecca Foulger reviewed PPP1CB
Retinal disorders HK1 Ellen McDonagh classified HK1 as amber
Retinal disorders HK1 Ellen McDonagh added HK1 to panel
Retinal disorders HK1 Ellen McDonagh reviewed HK1
Familial Hirschsprung Disease VCL Rebecca Foulger commented on VCL
Familial Hirschsprung Disease VCL Rebecca Foulger classified VCL as amber
Skeletal dysplasia CTSK Ellen McDonagh commented on CTSK
Familial Hirschsprung Disease TCF4 Rebecca Foulger marked TCF4 as ready
Familial Hirschsprung Disease TCF4 Rebecca Foulger classified TCF4 as red
Familial Hirschsprung Disease TCF4 Rebecca Foulger commented on TCF4
Familial Hirschsprung Disease SEMA3C Rebecca Foulger commented on SEMA3C
Familial Hirschsprung Disease SEMA3D Rebecca Foulger commented on SEMA3D
Parkinson Disease and Complex Parkinsonism MAPT Ellen McDonagh edited their review of MAPT
Early onset dementia (encompassing fronto-temporal dementia and prion disease) MAPT Ellen McDonagh reviewed MAPT
Severe microcephaly PRUNE Ellen McDonagh reviewed PRUNE
Clefting TGFB3 Ellen McDonagh reviewed TGFB3
Diabetes with additional phenotypes suggestive of a monogenic aetiology HNF4A Sarah Leigh reviewed HNF4A
Familial diabetes HNF4A Sarah Leigh edited their review of HNF4A
Congenital hyperinsulinism HNF4A Sarah Leigh reviewed HNF4A
Familial diabetes HNF4A Sarah Leigh commented on HNF4A
Familial Hirschsprung Disease RMRP Rebecca Foulger marked RMRP as ready
Familial Hirschsprung Disease RMRP Rebecca Foulger classified RMRP as red
Familial Hirschsprung Disease PSPN Rebecca Foulger marked PSPN as ready
Retinal disorders NMNAT1 Ellen McDonagh edited their review of NMNAT1
Familial Hirschsprung Disease PSPN Rebecca Foulger classified PSPN as red
Familial Hirschsprung Disease PSPN Rebecca Foulger commented on PSPN
Cystic kidney disease PKD1 Ellen McDonagh reviewed PKD1
Hereditary neuropathy GDAP1 Ellen McDonagh edited their review of GDAP1
Familial Hirschsprung Disease NTRK3 Rebecca Foulger marked NTRK3 as ready
Familial Hirschsprung Disease NTRK3 Rebecca Foulger classified NTRK3 as red
Familial Hirschsprung Disease NRTN Rebecca Foulger marked NRTN as ready
Familial Hirschsprung Disease NRTN Rebecca Foulger classified NRTN as red
Hereditary neuropathy HSPB1 Ellen McDonagh edited their review of HSPB1
Familial Hirschsprung Disease NRG3 Rebecca Foulger classified NRG3 as amber
Familial non syndromic congenital heart disease TAB2 Ellen McDonagh classified TAB2 as amber
Familial non syndromic congenital heart disease TAB2 Ellen McDonagh reviewed TAB2
Familial Hirschsprung Disease NRG3 Rebecca Foulger commented on NRG3
Familial Hirschsprung Disease NRG3 Rebecca Foulger commented on NRG3
Familial Hirschsprung Disease NRG3 Rebecca Foulger commented on NRG3
Pulmonary arterial hypertension KCNK3 Ellen McDonagh reviewed KCNK3
Pulmonary arterial hypertension BMPR2 Ellen McDonagh reviewed BMPR2
Brugada syndrome and cardiac sodium channel disease SCN5A Ellen McDonagh commented on SCN5A
Dilated Cardiomyopathy and conduction defects SCN5A Ellen McDonagh commented on SCN5A
Hypertrophic cardiomyopathy JPH2 Ellen McDonagh reviewed JPH2
Familial Hirschsprung Disease MAPK10 Rebecca Foulger marked MAPK10 as ready
Familial Hirschsprung Disease MAPK10 Rebecca Foulger classified MAPK10 as red
Monogenic hearing loss HAAO Ellen McDonagh classified HAAO as amber
Monogenic hearing loss HAAO Ellen McDonagh edited their review of HAAO
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Monogenic hearing loss HAAO Ellen McDonagh added HAAO to panel
Monogenic hearing loss HAAO Ellen McDonagh reviewed HAAO
Familial Hirschsprung Disease GFRA1 Rebecca Foulger commented on GFRA1
CAKUT KYNU Ellen McDonagh classified KYNU as amber
CAKUT KYNU Ellen McDonagh added KYNU to panel
CAKUT KYNU Ellen McDonagh reviewed KYNU
CAKUT HAAO Ellen McDonagh classified HAAO as amber
CAKUT HAAO Ellen McDonagh added HAAO to panel
CAKUT HAAO Ellen McDonagh reviewed HAAO
Familial Hirschsprung Disease DHCR7 Rebecca Foulger commented on DHCR7
Familial Hirschsprung Disease DHCR7 Rebecca Foulger classified DHCR7 as amber
Familial Hirschsprung Disease DHCR7 Rebecca Foulger commented on DHCR7
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
Familial Hirschsprung Disease NRG1 Rebecca Foulger edited their review of NRG1
Familial Hirschsprung Disease NRG1 Rebecca Foulger commented on NRG1
VACTERL-like phenotypes HAAO Ellen McDonagh classified HAAO as amber
VACTERL-like phenotypes HAAO Ellen McDonagh added HAAO to panel
VACTERL-like phenotypes HAAO Ellen McDonagh reviewed HAAO
Undiagnosed metabolic disorders HAAO Ellen McDonagh classified HAAO as amber
Undiagnosed metabolic disorders HAAO Ellen McDonagh added HAAO to panel
Undiagnosed metabolic disorders HAAO Ellen McDonagh reviewed HAAO
VACTERL-like phenotypes KYNU Ellen McDonagh commented on KYNU
VACTERL-like phenotypes KYNU Ellen McDonagh classified KYNU as amber
VACTERL-like phenotypes KYNU Ellen McDonagh added KYNU to panel
VACTERL-like phenotypes KYNU Ellen McDonagh reviewed KYNU
Undiagnosed metabolic disorders KYNU Ellen McDonagh classified KYNU as amber
Undiagnosed metabolic disorders KYNU Ellen McDonagh commented on KYNU
Arthrogryposis BICD2 Andrea Haworth reviewed BICD2
Parkinson Disease and Complex Parkinsonism EPHB4 Louise Daugherty classified EPHB4 as grey
Parkinson Disease and Complex Parkinsonism EPHB4 Louise Daugherty commented on EPHB4
Parkinson Disease and Complex Parkinsonism C9ORF72 Louise Daugherty classified C9ORF72* as red
Intellectual disability RNU4ATAC Louise Daugherty edited their review of RNU4ATAC
Inherited bleeding disorders C6orf25 Louise Daugherty commented on C6orf25
Inherited bleeding disorders AP3D1 Louise Daugherty commented on AP3D1
Inherited bleeding disorders TPM4 Louise Daugherty classified TPM4 as green
Inherited bleeding disorders TPM4 Louise Daugherty commented on TPM4
Inherited bleeding disorders RNU4ATAC Louise Daugherty commented on RNU4ATAC
Inherited bleeding disorders RNU4ATAC Louise Daugherty classified RNU4ATAC as green
Inherited bleeding disorders RNU4ATAC Louise Daugherty commented on RNU4ATAC
Inherited bleeding disorders PTPN11 Louise Daugherty classified PTPN11 as green
Inherited bleeding disorders PTPN11 Louise Daugherty commented on PTPN11
Inherited bleeding disorders KNG1 Louise Daugherty classified KNG1 as green
Inherited bleeding disorders KNG1 Louise Daugherty commented on KNG1
Inherited bleeding disorders KDSR Louise Daugherty classified KDSR as green
Inherited bleeding disorders KDSR Louise Daugherty commented on KDSR
Inherited bleeding disorders FYB Louise Daugherty classified FYB as green
Inherited bleeding disorders F12 Louise Daugherty classified F12 as green
Inherited bleeding disorders F12 Louise Daugherty commented on F12
Inherited bleeding disorders COL5A2 Louise Daugherty classified COL5A2 as green
Inherited bleeding disorders COL5A2 Louise Daugherty commented on COL5A2
Inherited bleeding disorders COL1A1 Louise Daugherty classified COL1A1 as green
Inherited bleeding disorders COL1A1 Louise Daugherty commented on COL1A1
Inherited bleeding disorders COL5A1 Louise Daugherty classified COL5A1 as green
Inherited bleeding disorders COL5A1 Louise Daugherty commented on COL5A1
Inherited bleeding disorders C6orf25 Louise Daugherty classified C6orf25 as green
Inherited bleeding disorders AP3D1 Louise Daugherty classified AP3D1 as green
Inherited bleeding disorders ARPC1B Louise Daugherty classified ARPC1B as green
Inherited bleeding disorders ARPC1B Louise Daugherty commented on ARPC1B
Inherited bleeding disorders ABCG8 Louise Daugherty classified ABCG8 as green
Inherited bleeding disorders ABCG8 Louise Daugherty commented on ABCG8
Inherited bleeding disorders ABCG5 Louise Daugherty classified ABCG5 as green
Inherited bleeding disorders ABCG5 Louise Daugherty commented on ABCG5
Inherited bleeding disorders TPM4 BRIDGE consortium reviewed TPM4
Inherited bleeding disorders SLFN14 BRIDGE consortium edited their review of SLFN14
Inherited bleeding disorders RNU4ATAC BRIDGE consortium reviewed RNU4ATAC
Inherited bleeding disorders PTPN11 BRIDGE consortium reviewed PTPN11
Inherited bleeding disorders KNG1 BRIDGE consortium reviewed KNG1
Inherited bleeding disorders KDSR BRIDGE consortium reviewed KDSR
Inherited bleeding disorders FYB BRIDGE consortium reviewed FYB
Inherited bleeding disorders F12 BRIDGE consortium reviewed F12
Inherited bleeding disorders COL5A2 BRIDGE consortium reviewed COL5A2
Inherited bleeding disorders COL5A1 BRIDGE consortium reviewed COL5A1
Inherited bleeding disorders COL1A1 BRIDGE consortium reviewed COL1A1
Inherited bleeding disorders C6orf25 BRIDGE consortium reviewed C6orf25
Inherited bleeding disorders ARPC1B BRIDGE consortium reviewed ARPC1B
Inherited bleeding disorders AP3D1 BRIDGE consortium reviewed AP3D1
Inherited bleeding disorders ADAMTS13 BRIDGE consortium reviewed ADAMTS13
Inherited bleeding disorders ABCG8 BRIDGE consortium reviewed ABCG8
Inherited bleeding disorders ABCG5 BRIDGE consortium reviewed ABCG5
Bilateral congenital or childhood onset cataracts SIPA1L3 Ellen McDonagh added SIPA1L3 to panel
Bilateral congenital or childhood onset cataracts SIPA1L3 Ellen McDonagh reviewed SIPA1L3
Familial Hirschsprung Disease NRG1 Merce Garcia-Barcelo reviewed NRG1
Inherited non-medullary thyroid cancer Sarah Leigh promoted panel to version 1
Inherited non-medullary thyroid cancer SDHD Sarah Leigh added SDHD to panel
Inherited non-medullary thyroid cancer SDHD Sarah Leigh reviewed SDHD
Inherited non-medullary thyroid cancer SEC23B Sarah Leigh marked SEC23B as ready
Inherited non-medullary thyroid cancer SEC23B Sarah Leigh commented on SEC23B
Inherited non-medullary thyroid cancer VTRNA2-1 Sarah Leigh reviewed VTRNA2-1
Inherited non-medullary thyroid cancer SEC23B Sarah Leigh classified SEC23B as green
Inherited non-medullary thyroid cancer PTCSC1 Sarah Leigh marked PTCSC1 as ready
Inherited non-medullary thyroid cancer PTCSC1 Sarah Leigh commented on PTCSC1
Inherited non-medullary thyroid cancer PIK3CA Sarah Leigh marked PIK3CA as ready
Inherited non-medullary thyroid cancer PIK3CA Sarah Leigh commented on PIK3CA
Inherited non-medullary thyroid cancer NKX2-1 Sarah Leigh marked NKX2-1 as ready
Inherited non-medullary thyroid cancer NKX2-1 Sarah Leigh commented on NKX2-1
Inherited non-medullary thyroid cancer NDUFA13 Sarah Leigh marked NDUFA13 as ready
Inherited non-medullary thyroid cancer NDUFA13 Sarah Leigh commented on NDUFA13
Inherited non-medullary thyroid cancer MSH2 Sarah Leigh marked MSH2 as ready
Inherited non-medullary thyroid cancer MSH2 Sarah Leigh classified MSH2 as amber
Inherited non-medullary thyroid cancer MINPP1 Sarah Leigh reviewed MINPP1
Inherited non-medullary thyroid cancer KISS1R Sarah Leigh marked KISS1R as ready
Inherited non-medullary thyroid cancer KISS1R Sarah Leigh commented on KISS1R
Inherited non-medullary thyroid cancer HABP2 Sarah Leigh marked HABP2 as ready
Inherited non-medullary thyroid cancer HABP2 Sarah Leigh commented on HABP2
Ocular and oculo-cutaneous albinism HPS5 Olivia Niblock classified HPS5 as green
Ocular and oculo-cutaneous albinism HPS5 Olivia Niblock commented on HPS5
Ocular and oculo-cutaneous albinism HPS4 Olivia Niblock classified HPS4 as green
Ocular and oculo-cutaneous albinism HPS4 Olivia Niblock commented on HPS4
Ocular and oculo-cutaneous albinism HPS3 Olivia Niblock classified HPS3 as green
Ocular and oculo-cutaneous albinism HPS3 Olivia Niblock commented on HPS3
Ocular and oculo-cutaneous albinism HPS1 Olivia Niblock classified HPS1 as green
Ocular and oculo-cutaneous albinism HPS1 Olivia Niblock commented on HPS1
Hereditary haemorrhagic telangiectasia MRE11A Louise Daugherty commented on MRE11A
Familial Hirschsprung Disease WNT3A Rebecca Foulger marked WNT3A as ready
Familial Hirschsprung Disease VAMP5 Rebecca Foulger marked VAMP5 as ready
Familial Hirschsprung Disease TUBA1A Rebecca Foulger marked TUBA1A as ready
Familial Hirschsprung Disease TBATA Rebecca Foulger commented on TBATA
Familial Hirschsprung Disease TBATA Rebecca Foulger classified TBATA as amber
Familial Hirschsprung Disease SOX2 Rebecca Foulger marked SOX2 as ready
Familial Hirschsprung Disease SLC6A20 Rebecca Foulger marked SLC6A20 as ready
Familial Hirschsprung Disease RORA Rebecca Foulger marked RORA as ready
Familial Hirschsprung Disease RELN Rebecca Foulger marked RELN as ready
Familial Hirschsprung Disease PTCH1 Rebecca Foulger marked PTCH1 as ready
Familial Hirschsprung Disease PIGV Rebecca Foulger commented on PIGV
Familial Hirschsprung Disease NCLN Rebecca Foulger commented on NCLN
Familial Hirschsprung Disease ECE1 Rebecca Foulger commented on ECE1
Familial Hirschsprung Disease DENND3 Rebecca Foulger commented on DENND3
Familial Hirschsprung Disease NUP98 Rebecca Foulger commented on NUP98
Familial Hirschsprung Disease NUP98 Rebecca Foulger classified NUP98 as amber
Familial Hirschsprung Disease NRTN Rebecca Foulger commented on NRTN
Amelogenesis imperfecta ITGB6 Claire Smith reviewed ITGB6
Familial Hirschsprung Disease PSPN Rebecca Foulger commented on PSPN
Amelogenesis imperfecta SLC24A4 Claire Smith reviewed SLC24A4
Amelogenesis imperfecta LAMA3 Claire Smith reviewed LAMA3
Amelogenesis imperfecta AMTN Claire Smith reviewed AMTN
Amelogenesis imperfecta GPR68 Claire Smith reviewed GPR68
Amelogenesis imperfecta AMBN Claire Smith reviewed AMBN
Amelogenesis imperfecta ACPT Claire Smith reviewed ACPT
Amelogenesis imperfecta LAMB3 Claire Smith reviewed LAMB3
Amelogenesis imperfecta KLK4 Claire Smith reviewed KLK4
Familial Hirschsprung Disease EDN3 Rebecca Foulger commented on EDN3
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease NRTN Rebecca Foulger commented on NRTN
Familial Hirschsprung Disease NRTN Rebecca Foulger commented on NRTN
Familial Hirschsprung Disease NRSN1 Rebecca Foulger marked NRSN1 as ready
Familial Hirschsprung Disease NCLN Rebecca Foulger classified NCLN as amber
Familial Hirschsprung Disease NCLN Rebecca Foulger classified NCLN as red
Familial Hirschsprung Disease MIR369 Rebecca Foulger marked MIR369 as ready
Familial Hirschsprung Disease MIR146A Rebecca Foulger marked MIR146A as ready
Familial Hirschsprung Disease MED12 Rebecca Foulger marked MED12 as ready
Familial Hirschsprung Disease MBTPS2 Rebecca Foulger marked MBTPS2 as ready
Familial Hirschsprung Disease INMT Rebecca Foulger marked INMT as ready
Familial Hirschsprung Disease IL11 Rebecca Foulger marked IL11 as ready
Familial Hirschsprung Disease IKBKAP Rebecca Foulger marked IKBKAP as ready
Familial Hirschsprung Disease GHRL Rebecca Foulger marked GHRL as ready
Familial Hirschsprung Disease GAP43 Rebecca Foulger marked GAP43 as ready
Familial Hirschsprung Disease GAL Rebecca Foulger marked GAL as ready
Familial Hirschsprung Disease GABRG2 Rebecca Foulger marked GABRG2 as ready
Familial Hirschsprung Disease FZD3 Rebecca Foulger marked FZD3 as ready
Familial Hirschsprung Disease ECE1 Rebecca Foulger classified ECE1 as amber
Familial Hirschsprung Disease DSCAM Rebecca Foulger marked DSCAM as ready
Familial Hirschsprung Disease DNMT3B Rebecca Foulger marked DNMT3B as ready
Familial Hirschsprung Disease DLL3 Rebecca Foulger marked DLL3 as ready
Familial Hirschsprung Disease DLL3 Rebecca Foulger commented on DLL3
Familial Hirschsprung Disease DENND3 Rebecca Foulger classified DENND3 as amber
Familial Hirschsprung Disease CREBBP Rebecca Foulger marked CREBBP as ready
Familial Hirschsprung Disease COMT Rebecca Foulger marked COMT as ready
Familial Hirschsprung Disease ARVCF Rebecca Foulger marked ARVCF as ready
Familial Hirschsprung Disease ARID1B Rebecca Foulger marked ARID1B as ready
Familial Hirschsprung Disease ABCC9 Rebecca Foulger marked ABCC9 as ready
Familial Hirschsprung Disease SOX10 Rebecca Foulger marked SOX10 as ready
Familial Hirschsprung Disease SOX10 Rebecca Foulger classified SOX10 as green
Familial Hirschsprung Disease L1CAM Rebecca Foulger marked L1CAM as ready
Familial Hirschsprung Disease L1CAM Rebecca Foulger classified L1CAM as green
Familial Hirschsprung Disease KIAA1279 Rebecca Foulger marked KIAA1279 as ready
Familial Hirschsprung Disease KIAA1279 Rebecca Foulger classified KIAA1279 as green
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Familial Hirschsprung Disease GDNF Rebecca Foulger commented on GDNF
Familial Hirschsprung Disease EDNRB Rebecca Foulger commented on EDNRB
Familial Hirschsprung Disease EDNRB Rebecca Foulger classified EDNRB as green
Familial Hirschsprung Disease EDN3 Rebecca Foulger marked EDN3 as ready
Familial Hirschsprung Disease EDN3 Rebecca Foulger classified EDN3 as green
Familial Hirschsprung Disease NKX2-1 Erwin Brosens reviewed NKX2-1
Familial Hirschsprung Disease MIR369 Erwin Brosens reviewed MIR369
Familial Hirschsprung Disease MIR146A Erwin Brosens reviewed MIR146A
Familial Hirschsprung Disease MED12 Erwin Brosens reviewed MED12
Familial Hirschsprung Disease WNT3A Erwin Brosens reviewed WNT3A
Familial Hirschsprung Disease VAMP5 Erwin Brosens reviewed VAMP5
Familial Hirschsprung Disease TUBA1A Erwin Brosens reviewed TUBA1A
Familial Hirschsprung Disease TCF4 Erwin Brosens reviewed TCF4
Familial Hirschsprung Disease SOX2 Erwin Brosens reviewed SOX2
Familial Hirschsprung Disease NRSN1 Erwin Brosens reviewed NRSN1
Familial Hirschsprung Disease MBTPS2 Erwin Brosens reviewed MBTPS2
Familial Hirschsprung Disease SLC6A20 Erwin Brosens reviewed SLC6A20
Familial Hirschsprung Disease SAMD9 Erwin Brosens reviewed SAMD9
Familial Hirschsprung Disease RORA Erwin Brosens reviewed RORA
Familial Hirschsprung Disease RMRP Erwin Brosens reviewed RMRP
Familial Hirschsprung Disease RELN Erwin Brosens reviewed RELN
Familial Hirschsprung Disease MAPK10 Erwin Brosens reviewed MAPK10
Familial Hirschsprung Disease INMT Erwin Brosens reviewed INMT
Familial Hirschsprung Disease PTCH1 Erwin Brosens reviewed PTCH1
Familial Hirschsprung Disease IL11 Erwin Brosens reviewed IL11
Familial Hirschsprung Disease IKBKAP Erwin Brosens reviewed IKBKAP
Familial Hirschsprung Disease NTRK3 Erwin Brosens reviewed NTRK3
Familial Hirschsprung Disease GHRL Erwin Brosens reviewed GHRL
Familial Hirschsprung Disease GAP43 Erwin Brosens reviewed GAP43
Familial Hirschsprung Disease PIGV Erwin Brosens reviewed PIGV
Familial Hirschsprung Disease GAL Erwin Brosens reviewed GAL
Familial Hirschsprung Disease GABRG2 Erwin Brosens reviewed GABRG2
Familial Hirschsprung Disease FZD3 Erwin Brosens reviewed FZD3
Familial Hirschsprung Disease DSCAM Erwin Brosens reviewed DSCAM
Familial Hirschsprung Disease DNMT3B Erwin Brosens reviewed DNMT3B
Familial Hirschsprung Disease DLL3 Erwin Brosens reviewed DLL3
Familial Hirschsprung Disease DHCR7 Erwin Brosens reviewed DHCR7
Familial Hirschsprung Disease CREBBP Erwin Brosens reviewed CREBBP
Familial Hirschsprung Disease COMT Erwin Brosens reviewed COMT
Familial Hirschsprung Disease CELSR3 Erwin Brosens reviewed CELSR3
Familial Hirschsprung Disease ARVCF Erwin Brosens reviewed ARVCF
Familial Hirschsprung Disease ARID1B Erwin Brosens reviewed ARID1B
Familial Hirschsprung Disease ABCC9 Erwin Brosens reviewed ABCC9
Familial Hirschsprung Disease TBATA Erwin Brosens reviewed TBATA
Familial Hirschsprung Disease DENND3 Erwin Brosens reviewed DENND3
Familial Hirschsprung Disease NCLN Erwin Brosens reviewed NCLN
Familial Hirschsprung Disease NUP98 Erwin Brosens reviewed NUP98
Familial Hirschsprung Disease NRG3 Erwin Brosens reviewed NRG3
Familial Hirschsprung Disease PSPN Erwin Brosens reviewed PSPN
Familial Hirschsprung Disease NRTN Erwin Brosens reviewed NRTN
Familial Hirschsprung Disease NRG1 Erwin Brosens reviewed NRG1
Familial Hirschsprung Disease SEMA3A Erwin Brosens edited their review of SEMA3A
Familial Hirschsprung Disease SEMA3C Erwin Brosens edited their review of SEMA3C
Familial Hirschsprung Disease SEMA3D Erwin Brosens edited their review of SEMA3D
Familial Hirschsprung Disease VCL Erwin Brosens reviewed VCL
Familial Hirschsprung Disease ECE1 Erwin Brosens edited their review of ECE1
Familial Hirschsprung Disease ZEB2 Erwin Brosens edited their review of ZEB2
Familial Hirschsprung Disease SEMA3D Erwin Brosens reviewed SEMA3D
Familial Hirschsprung Disease SEMA3C Erwin Brosens reviewed SEMA3C
Familial Hirschsprung Disease SEMA3A Erwin Brosens reviewed SEMA3A
Familial Hirschsprung Disease GFRA1 Erwin Brosens reviewed GFRA1
Familial Hirschsprung Disease ECE1 Erwin Brosens reviewed ECE1
Familial Hirschsprung Disease SOX10 Erwin Brosens reviewed SOX10
Familial Hirschsprung Disease L1CAM Erwin Brosens reviewed L1CAM
Familial Hirschsprung Disease GDNF Erwin Brosens edited their review of GDNF
Familial Hirschsprung Disease EDNRB Erwin Brosens edited their review of EDNRB
Familial Hirschsprung Disease EDN3 Erwin Brosens edited their review of EDN3
Familial Hirschsprung Disease RET Erwin Brosens edited their review of RET
Familial Hirschsprung Disease PHOX2B Erwin Brosens edited their review of PHOX2B
Familial Hirschsprung Disease KIAA1279 Erwin Brosens reviewed KIAA1279
Familial Hirschsprung Disease GDNF Erwin Brosens reviewed GDNF
Familial Hirschsprung Disease EDNRB Erwin Brosens reviewed EDNRB
Familial Hirschsprung Disease EDN3 Erwin Brosens reviewed EDN3
Intellectual disability ZNF711 BRIDGE consortium edited their review of ZNF711
Intellectual disability ZNF148 BRIDGE consortium edited their review of ZNF148
Intellectual disability ZMPSTE24 BRIDGE consortium edited their review of ZMPSTE24
Intellectual disability ZIC3 BRIDGE consortium edited their review of ZIC3
Intellectual disability ZIC2 BRIDGE consortium edited their review of ZIC2
Intellectual disability ZIC1 BRIDGE consortium edited their review of ZIC1
Intellectual disability ZFYVE26 BRIDGE consortium edited their review of ZFYVE26
Intellectual disability ZFP57 BRIDGE consortium edited their review of ZFP57
Intellectual disability ZEB2 BRIDGE consortium edited their review of ZEB2
Intellectual disability ZDHHC9 BRIDGE consortium edited their review of ZDHHC9
Intellectual disability ZC4H2 BRIDGE consortium edited their review of ZC4H2
Intellectual disability ZBTB20 BRIDGE consortium edited their review of ZBTB20
Intellectual disability ZBTB18 BRIDGE consortium edited their review of ZBTB18
Intellectual disability XYLT1 BRIDGE consortium edited their review of XYLT1
Intellectual disability XRCC4 BRIDGE consortium edited their review of XRCC4
Intellectual disability XPC BRIDGE consortium edited their review of XPC
Intellectual disability XPA BRIDGE consortium edited their review of XPA
Intellectual disability WWOX BRIDGE consortium edited their review of WWOX
Intellectual disability WT1 BRIDGE consortium edited their review of WT1
Intellectual disability WRAP53 BRIDGE consortium edited their review of WRAP53
Intellectual disability WNT7A BRIDGE consortium edited their review of WNT7A
Intellectual disability WNT5A BRIDGE consortium edited their review of WNT5A
Intellectual disability WNT3 BRIDGE consortium edited their review of WNT3
Intellectual disability WNT10B BRIDGE consortium edited their review of WNT10B
Intellectual disability WNT1 BRIDGE consortium edited their review of WNT1
Intellectual disability WDR62 BRIDGE consortium edited their review of WDR62
Intellectual disability WDR60 BRIDGE consortium edited their review of WDR60
Intellectual disability WDR45 BRIDGE consortium edited their review of WDR45
Intellectual disability WDR35 BRIDGE consortium edited their review of WDR35
Intellectual disability WDR34 BRIDGE consortium edited their review of WDR34
Intellectual disability WDR19 BRIDGE consortium edited their review of WDR19
Intellectual disability WDR11 BRIDGE consortium edited their review of WDR11
Intellectual disability WDPCP BRIDGE consortium edited their review of WDPCP
Intellectual disability WAC BRIDGE consortium edited their review of WAC
Intellectual disability VSX2 BRIDGE consortium edited their review of VSX2
Intellectual disability VPS35 BRIDGE consortium edited their review of VPS35
Intellectual disability VPS33B BRIDGE consortium edited their review of VPS33B
Intellectual disability VPS13B BRIDGE consortium edited their review of VPS13B
Intellectual disability VLDLR BRIDGE consortium edited their review of VLDLR
Intellectual disability VIPAS39 BRIDGE consortium edited their review of VIPAS39
Intellectual disability VDR BRIDGE consortium edited their review of VDR
Intellectual disability VAMP1 BRIDGE consortium edited their review of VAMP1
Intellectual disability UVSSA BRIDGE consortium edited their review of UVSSA
Intellectual disability USB1 BRIDGE consortium edited their review of USB1
Intellectual disability UROS BRIDGE consortium edited their review of UROS
Intellectual disability UROC1 BRIDGE consortium edited their review of UROC1
Intellectual disability UPF3B BRIDGE consortium edited their review of UPF3B
Intellectual disability UNC80 BRIDGE consortium edited their review of UNC80
Intellectual disability UMPS BRIDGE consortium edited their review of UMPS
Intellectual disability UGT1A1 BRIDGE consortium edited their review of UGT1A1
Intellectual disability UBR1 BRIDGE consortium edited their review of UBR1
Intellectual disability UBE3B BRIDGE consortium edited their review of UBE3B
Intellectual disability UBE3A BRIDGE consortium edited their review of UBE3A
Intellectual disability UBE2A BRIDGE consortium edited their review of UBE2A
Intellectual disability UBA5 BRIDGE consortium edited their review of UBA5
Intellectual disability TYRP1 BRIDGE consortium edited their review of TYRP1
Intellectual disability TYR BRIDGE consortium edited their review of TYR
Intellectual disability TXNL4A BRIDGE consortium edited their review of TXNL4A
Intellectual disability TWIST2 BRIDGE consortium edited their review of TWIST2
Intellectual disability TWIST1 BRIDGE consortium edited their review of TWIST1
Intellectual disability TUSC3 BRIDGE consortium edited their review of TUSC3
Intellectual disability TUBGCP6 BRIDGE consortium edited their review of TUBGCP6
Intellectual disability TUBB4A BRIDGE consortium edited their review of TUBB4A
Intellectual disability TUBB2B BRIDGE consortium edited their review of TUBB2B
Intellectual disability TUBB2A BRIDGE consortium edited their review of TUBB2A
Intellectual disability TUBB BRIDGE consortium edited their review of TUBB
Intellectual disability TUBA8 BRIDGE consortium edited their review of TUBA8
Intellectual disability TUBA1A BRIDGE consortium edited their review of TUBA1A
Intellectual disability TTPA BRIDGE consortium edited their review of TTPA
Intellectual disability TTC8 BRIDGE consortium edited their review of TTC8
Intellectual disability TTC7A BRIDGE consortium edited their review of TTC7A
Intellectual disability TTC37 BRIDGE consortium edited their review of TTC37
Intellectual disability TTC19 BRIDGE consortium edited their review of TTC19
Intellectual disability TTBK2 BRIDGE consortium edited their review of TTBK2
Intellectual disability TSPAN7 BRIDGE consortium edited their review of TSPAN7
Intellectual disability TSHR BRIDGE consortium edited their review of TSHR
Intellectual disability TSHB BRIDGE consortium edited their review of TSHB
Intellectual disability TSEN54 BRIDGE consortium edited their review of TSEN54
Intellectual disability TSC2 BRIDGE consortium edited their review of TSC2
Intellectual disability TSC1 BRIDGE consortium edited their review of TSC1
Intellectual disability TRPV4 BRIDGE consortium edited their review of TRPV4
Intellectual disability TRPS1 BRIDGE consortium edited their review of TRPS1
Intellectual disability TRPM1 BRIDGE consortium edited their review of TRPM1
Intellectual disability TRMT10A BRIDGE consortium edited their review of TRMT10A
Intellectual disability TRIP12 BRIDGE consortium edited their review of TRIP12
Intellectual disability TRIP11 BRIDGE consortium edited their review of TRIP11
Intellectual disability TRIO BRIDGE consortium edited their review of TRIO
Intellectual disability TRIM37 BRIDGE consortium edited their review of TRIM37
Intellectual disability TRIM32 BRIDGE consortium edited their review of TRIM32
Intellectual disability TREX1 BRIDGE consortium edited their review of TREX1
Intellectual disability TRAPPC9 BRIDGE consortium edited their review of TRAPPC9
Intellectual disability TRAPPC2 BRIDGE consortium edited their review of TRAPPC2
Intellectual disability TPP1 BRIDGE consortium edited their review of TPP1
Intellectual disability TP63 BRIDGE consortium edited their review of TP63
Intellectual disability TOR1A BRIDGE consortium edited their review of TOR1A
Intellectual disability TOE1 BRIDGE consortium edited their review of TOE1
Intellectual disability TMPRSS6 BRIDGE consortium edited their review of TMPRSS6
Intellectual disability TMEM70 BRIDGE consortium edited their review of TMEM70
Intellectual disability TMEM67 BRIDGE consortium edited their review of TMEM67
Intellectual disability TMEM5 BRIDGE consortium edited their review of TMEM5
Intellectual disability TMEM240 BRIDGE consortium edited their review of TMEM240
Intellectual disability TMEM237 BRIDGE consortium edited their review of TMEM237
Intellectual disability TMEM165 BRIDGE consortium edited their review of TMEM165
Intellectual disability TMEM126B BRIDGE consortium edited their review of TMEM126B
Intellectual disability TMCO1 BRIDGE consortium edited their review of TMCO1
Intellectual disability TK2 BRIDGE consortium edited their review of TK2
Intellectual disability TINF2 BRIDGE consortium edited their review of TINF2
Intellectual disability TIMM8A BRIDGE consortium edited their review of TIMM8A
Intellectual disability THRA BRIDGE consortium edited their review of THRA
Intellectual disability THAP1 BRIDGE consortium edited their review of THAP1
Intellectual disability TH BRIDGE consortium edited their review of TH
Intellectual disability TGM6 BRIDGE consortium edited their review of TGM6
Intellectual disability TGIF1 BRIDGE consortium edited their review of TGIF1
Intellectual disability TGFBR2 BRIDGE consortium edited their review of TGFBR2
Intellectual disability TGFBR1 BRIDGE consortium edited their review of TGFBR1
Intellectual disability TGFB3 BRIDGE consortium edited their review of TGFB3
Intellectual disability TGFB2 BRIDGE consortium edited their review of TGFB2
Intellectual disability TGFB1 BRIDGE consortium edited their review of TGFB1
Intellectual disability TGDS BRIDGE consortium edited their review of TGDS
Intellectual disability TFG BRIDGE consortium edited their review of TFG
Intellectual disability TFAP2B BRIDGE consortium edited their review of TFAP2B
Intellectual disability TFAP2A BRIDGE consortium edited their review of TFAP2A
Intellectual disability TERT BRIDGE consortium edited their review of TERT
Intellectual disability TEK BRIDGE consortium edited their review of TEK
Intellectual disability TECPR2 BRIDGE consortium edited their review of TECPR2
Intellectual disability TCTN3 BRIDGE consortium edited their review of TCTN3
Intellectual disability TCOF1 BRIDGE consortium edited their review of TCOF1
Intellectual disability TCN2 BRIDGE consortium edited their review of TCN2
Intellectual disability TCF4 BRIDGE consortium edited their review of TCF4
Intellectual disability TCF20 BRIDGE consortium edited their review of TCF20
Intellectual disability TCF12 BRIDGE consortium edited their review of TCF12
Intellectual disability TBXAS1 BRIDGE consortium edited their review of TBXAS1
Intellectual disability TBX5 BRIDGE consortium edited their review of TBX5
Intellectual disability TBX4 BRIDGE consortium edited their review of TBX4
Intellectual disability TBX3 BRIDGE consortium edited their review of TBX3
Intellectual disability TBX22 BRIDGE consortium edited their review of TBX22
Intellectual disability TBX20 BRIDGE consortium edited their review of TBX20
Intellectual disability TBX15 BRIDGE consortium edited their review of TBX15
Intellectual disability TBX1 BRIDGE consortium edited their review of TBX1
Intellectual disability TBP BRIDGE consortium edited their review of TBP
Intellectual disability TBCK BRIDGE consortium edited their review of TBCK
Intellectual disability TBCE BRIDGE consortium edited their review of TBCE
Intellectual disability TBCD BRIDGE consortium edited their review of TBCD
Intellectual disability TBC1D24 BRIDGE consortium edited their review of TBC1D24
Intellectual disability TAZ BRIDGE consortium edited their review of TAZ
Intellectual disability TAT BRIDGE consortium edited their review of TAT
Intellectual disability TARDBP BRIDGE consortium edited their review of TARDBP
Intellectual disability TANGO2 BRIDGE consortium edited their review of TANGO2
Intellectual disability TAF1 BRIDGE consortium edited their review of TAF1
Intellectual disability TAB2 BRIDGE consortium edited their review of TAB2
Intellectual disability SYP BRIDGE consortium edited their review of SYP
Intellectual disability SYNJ1 BRIDGE consortium edited their review of SYNJ1
Intellectual disability SYNGAP1 BRIDGE consortium edited their review of SYNGAP1
Intellectual disability SYNE1 BRIDGE consortium edited their review of SYNE1
Intellectual disability SURF1 BRIDGE consortium edited their review of SURF1
Intellectual disability SUMF1 BRIDGE consortium edited their review of SUMF1
Intellectual disability SUCLG1 BRIDGE consortium edited their review of SUCLG1
Intellectual disability STXBP1 BRIDGE consortium edited their review of STXBP1
Intellectual disability STX1B BRIDGE consortium edited their review of STX1B
Intellectual disability STUB1 BRIDGE consortium edited their review of STUB1
Intellectual disability STS BRIDGE consortium edited their review of STS
Intellectual disability STRADA BRIDGE consortium edited their review of STRADA
Intellectual disability STRA6 BRIDGE consortium edited their review of STRA6
Intellectual disability STIL BRIDGE consortium edited their review of STIL
Intellectual disability STAT1 BRIDGE consortium edited their review of STAT1
Intellectual disability STAR BRIDGE consortium edited their review of STAR
Intellectual disability STAMBP BRIDGE consortium edited their review of STAMBP
Intellectual disability STAG1 BRIDGE consortium edited their review of STAG1
Intellectual disability ST3GAL5 BRIDGE consortium edited their review of ST3GAL5
Intellectual disability ST3GAL3 BRIDGE consortium edited their review of ST3GAL3
Intellectual disability SRY BRIDGE consortium edited their review of SRY
Intellectual disability SRD5A3 BRIDGE consortium edited their review of SRD5A3
Intellectual disability SRCAP BRIDGE consortium edited their review of SRCAP
Intellectual disability SPTLC2 BRIDGE consortium edited their review of SPTLC2
Intellectual disability SPTBN2 BRIDGE consortium edited their review of SPTBN2
Intellectual disability SPTAN1 BRIDGE consortium edited their review of SPTAN1
Intellectual disability SPRED1 BRIDGE consortium edited their review of SPRED1
Intellectual disability SPR BRIDGE consortium edited their review of SPR
Intellectual disability SPG7 BRIDGE consortium edited their review of SPG7
Intellectual disability SPG21 BRIDGE consortium edited their review of SPG21
Intellectual disability SPG20 BRIDGE consortium edited their review of SPG20
Intellectual disability SPG11 BRIDGE consortium edited their review of SPG11
Intellectual disability SPEG BRIDGE consortium edited their review of SPEG
Intellectual disability SPATA5 BRIDGE consortium edited their review of SPATA5
Intellectual disability SPAST BRIDGE consortium edited their review of SPAST
Intellectual disability SPAG1 BRIDGE consortium edited their review of SPAG1
Intellectual disability SOX9 BRIDGE consortium edited their review of SOX9
Intellectual disability SOX3 BRIDGE consortium edited their review of SOX3
Intellectual disability SOX2 BRIDGE consortium edited their review of SOX2
Intellectual disability SOX17 BRIDGE consortium edited their review of SOX17
Intellectual disability SOX10 BRIDGE consortium edited their review of SOX10
Intellectual disability SOS1 BRIDGE consortium edited their review of SOS1
Intellectual disability SON BRIDGE consortium edited their review of SON
Intellectual disability SNX14 BRIDGE consortium edited their review of SNX14
Intellectual disability SNRPB BRIDGE consortium edited their review of SNRPB
Intellectual disability SNORD118 BRIDGE consortium edited their review of SNORD118
Intellectual disability SNCA BRIDGE consortium edited their review of SNCA
Intellectual disability SMPD1 BRIDGE consortium edited their review of SMPD1
Intellectual disability SMOC1 BRIDGE consortium edited their review of SMOC1
Intellectual disability SMO BRIDGE consortium edited their review of SMO
Intellectual disability SMCHD1 BRIDGE consortium edited their review of SMCHD1
Intellectual disability SMC3 BRIDGE consortium edited their review of SMC3
Intellectual disability SMC1A BRIDGE consortium edited their review of SMC1A
Intellectual disability SMARCB1 BRIDGE consortium edited their review of SMARCB1
Intellectual disability SMARCAL1 BRIDGE consortium edited their review of SMARCAL1
Intellectual disability SMARCA4 BRIDGE consortium edited their review of SMARCA4
Intellectual disability SMARCA2 BRIDGE consortium edited their review of SMARCA2
Intellectual disability SMAD4 BRIDGE consortium edited their review of SMAD4
Intellectual disability SMAD3 BRIDGE consortium edited their review of SMAD3
Intellectual disability SLX4 BRIDGE consortium edited their review of SLX4
Intellectual disability SLC9A6 BRIDGE consortium edited their review of SLC9A6
Intellectual disability SLC6A8 BRIDGE consortium edited their review of SLC6A8
Intellectual disability SLC6A5 BRIDGE consortium edited their review of SLC6A5
Intellectual disability SLC6A3 BRIDGE consortium edited their review of SLC6A3
Intellectual disability SLC6A19 BRIDGE consortium edited their review of SLC6A19
Intellectual disability SLC6A17 BRIDGE consortium edited their review of SLC6A17
Intellectual disability SLC6A1 BRIDGE consortium edited their review of SLC6A1
Intellectual disability SLC5A5 BRIDGE consortium edited their review of SLC5A5
Intellectual disability SLC52A3 BRIDGE consortium edited their review of SLC52A3
Intellectual disability SLC4A4 BRIDGE consortium edited their review of SLC4A4
Intellectual disability SLC4A11 BRIDGE consortium edited their review of SLC4A11
Intellectual disability SLC4A1 BRIDGE consortium edited their review of SLC4A1
Intellectual disability SLC46A1 BRIDGE consortium edited their review of SLC46A1
Intellectual disability SLC39A8 BRIDGE consortium edited their review of SLC39A8
Intellectual disability SLC39A13 BRIDGE consortium edited their review of SLC39A13
Intellectual disability SLC35D1 BRIDGE consortium edited their review of SLC35D1
Intellectual disability SLC35C1 BRIDGE consortium edited their review of SLC35C1
Intellectual disability SLC35A2 BRIDGE consortium edited their review of SLC35A2
Intellectual disability SLC33A1 BRIDGE consortium edited their review of SLC33A1
Intellectual disability SLC2A2 BRIDGE consortium edited their review of SLC2A2
Intellectual disability SLC2A10 BRIDGE consortium edited their review of SLC2A10
Intellectual disability SLC2A1 BRIDGE consortium edited their review of SLC2A1
Intellectual disability SLC27A4 BRIDGE consortium edited their review of SLC27A4
Intellectual disability SLC26A2 BRIDGE consortium edited their review of SLC26A2
Intellectual disability SLC25A38 BRIDGE consortium edited their review of SLC25A38
Intellectual disability SLC25A26 BRIDGE consortium edited their review of SLC25A26
Intellectual disability SLC25A22 BRIDGE consortium edited their review of SLC25A22
Intellectual disability SLC25A20 BRIDGE consortium edited their review of SLC25A20
Intellectual disability SLC25A15 BRIDGE consortium edited their review of SLC25A15
Intellectual disability SLC22A5 BRIDGE consortium edited their review of SLC22A5
Intellectual disability SLC20A2 BRIDGE consortium edited their review of SLC20A2
Intellectual disability SLC19A3 BRIDGE consortium edited their review of SLC19A3
Intellectual disability SLC17A5 BRIDGE consortium edited their review of SLC17A5
Intellectual disability SLC16A2 BRIDGE consortium edited their review of SLC16A2
Intellectual disability SLC13A5 BRIDGE consortium edited their review of SLC13A5
Intellectual disability SLC12A6 BRIDGE consortium edited their review of SLC12A6
Intellectual disability SKIV2L BRIDGE consortium edited their review of SKIV2L
Intellectual disability SKI BRIDGE consortium edited their review of SKI
Intellectual disability SIX5 BRIDGE consortium edited their review of SIX5
Intellectual disability SIX3 BRIDGE consortium edited their review of SIX3
Intellectual disability SIX1 BRIDGE consortium edited their review of SIX1
Intellectual disability SIN3A BRIDGE consortium edited their review of SIN3A
Intellectual disability SIL1 BRIDGE consortium edited their review of SIL1
Intellectual disability SIK1 BRIDGE consortium edited their review of SIK1
Intellectual disability SIGMAR1 BRIDGE consortium edited their review of SIGMAR1
Intellectual disability SHOX BRIDGE consortium edited their review of SHOX
Intellectual disability SHOC2 BRIDGE consortium edited their review of SHOC2
Intellectual disability SHH BRIDGE consortium edited their review of SHH
Intellectual disability SHANK3 BRIDGE consortium edited their review of SHANK3
Intellectual disability SH3TC2 BRIDGE consortium edited their review of SH3TC2
Intellectual disability SH3PXD2B BRIDGE consortium edited their review of SH3PXD2B
Intellectual disability SGSH BRIDGE consortium edited their review of SGSH
Intellectual disability SGCE BRIDGE consortium edited their review of SGCE
Intellectual disability SF3B4 BRIDGE consortium edited their review of SF3B4
Intellectual disability SETX BRIDGE consortium edited their review of SETX
Intellectual disability SETD5 BRIDGE consortium edited their review of SETD5
Intellectual disability SETBP1 BRIDGE consortium edited their review of SETBP1
Intellectual disability SET BRIDGE consortium edited their review of SET
Intellectual disability SEC23B BRIDGE consortium edited their review of SEC23B
Intellectual disability SDHAF1 BRIDGE consortium edited their review of SDHAF1
Intellectual disability SDHA BRIDGE consortium edited their review of SDHA
Intellectual disability SDCCAG8 BRIDGE consortium edited their review of SDCCAG8
Intellectual disability SCO2 BRIDGE consortium edited their review of SCO2
Intellectual disability SCO1 BRIDGE consortium edited their review of SCO1
Intellectual disability SCN9A BRIDGE consortium edited their review of SCN9A
Intellectual disability SCN8A BRIDGE consortium edited their review of SCN8A
Intellectual disability SCN4A BRIDGE consortium edited their review of SCN4A
Intellectual disability SCN2A BRIDGE consortium edited their review of SCN2A
Intellectual disability SCN1B BRIDGE consortium edited their review of SCN1B
Intellectual disability SCN1A BRIDGE consortium edited their review of SCN1A
Intellectual disability SCN11A BRIDGE consortium edited their review of SCN11A
Intellectual disability SCARF2 BRIDGE consortium edited their review of SCARF2
Intellectual disability SCARB2 BRIDGE consortium edited their review of SCARB2
Intellectual disability SC5D BRIDGE consortium edited their review of SC5D
Intellectual disability SBF2 BRIDGE consortium edited their review of SBF2
Intellectual disability SBDS BRIDGE consortium edited their review of SBDS
Intellectual disability SATB2 BRIDGE consortium edited their review of SATB2
Intellectual disability SAMHD1 BRIDGE consortium edited their review of SAMHD1
Intellectual disability SALL4 BRIDGE consortium edited their review of SALL4
Intellectual disability SALL1 BRIDGE consortium edited their review of SALL1
Intellectual disability SACS BRIDGE consortium edited their review of SACS
Intellectual disability RYR1 BRIDGE consortium edited their review of RYR1
Intellectual disability RUNX2 BRIDGE consortium edited their review of RUNX2
Intellectual disability RTTN BRIDGE consortium edited their review of RTTN
Intellectual disability RTN4IP1 BRIDGE consortium edited their review of RTN4IP1
Intellectual disability RTN2 BRIDGE consortium edited their review of RTN2
Intellectual disability RTEL1 BRIDGE consortium edited their review of RTEL1
Intellectual disability RSPO4 BRIDGE consortium edited their review of RSPO4
Intellectual disability RSPH3 BRIDGE consortium edited their review of RSPH3
Intellectual disability RSPH1 BRIDGE consortium edited their review of RSPH1
Intellectual disability RPS6KA3 BRIDGE consortium edited their review of RPS6KA3
Intellectual disability RPS19 BRIDGE consortium edited their review of RPS19
Intellectual disability RPGRIP1L BRIDGE consortium edited their review of RPGRIP1L
Intellectual disability RPGRIP1 BRIDGE consortium edited their review of RPGRIP1
Intellectual disability RPE65 BRIDGE consortium edited their review of RPE65
Intellectual disability ROR2 BRIDGE consortium edited their review of ROR2
Intellectual disability ROGDI BRIDGE consortium edited their review of ROGDI
Intellectual disability ROBO3 BRIDGE consortium edited their review of ROBO3
Intellectual disability RNU4ATAC BRIDGE consortium edited their review of RNU4ATAC
Intellectual disability RNF216 BRIDGE consortium edited their review of RNF216
Intellectual disability RNF135 BRIDGE consortium edited their review of RNF135
Intellectual disability RNASET2 BRIDGE consortium edited their review of RNASET2
Intellectual disability RNASEH2C BRIDGE consortium edited their review of RNASEH2C
Intellectual disability RNASEH2B BRIDGE consortium edited their review of RNASEH2B
Intellectual disability RNASEH2A BRIDGE consortium edited their review of RNASEH2A
Intellectual disability RMRP BRIDGE consortium edited their review of RMRP
Intellectual disability RIT1 BRIDGE consortium edited their review of RIT1
Intellectual disability RIPK4 BRIDGE consortium edited their review of RIPK4
Intellectual disability RFX6 BRIDGE consortium edited their review of RFX6
Intellectual disability RET BRIDGE consortium edited their review of RET
Intellectual disability RERE BRIDGE consortium edited their review of RERE
Intellectual disability RELN BRIDGE consortium edited their review of RELN
Intellectual disability REEP2 BRIDGE consortium edited their review of REEP2
Intellectual disability REEP1 BRIDGE consortium edited their review of REEP1
Intellectual disability RECQL4 BRIDGE consortium edited their review of RECQL4
Intellectual disability RBM8A BRIDGE consortium edited their review of RBM8A
Intellectual disability RAX BRIDGE consortium edited their review of RAX
Intellectual disability RASA1 BRIDGE consortium edited their review of RASA1
Intellectual disability RARS2 BRIDGE consortium edited their review of RARS2
Intellectual disability RARB BRIDGE consortium edited their review of RARB
Intellectual disability RAPSN BRIDGE consortium edited their review of RAPSN
Intellectual disability RAI1 BRIDGE consortium edited their review of RAI1
Intellectual disability RAF1 BRIDGE consortium edited their review of RAF1
Intellectual disability RAD21 BRIDGE consortium edited their review of RAD21
Intellectual disability RAB3GAP2 BRIDGE consortium edited their review of RAB3GAP2
Intellectual disability RAB3GAP1 BRIDGE consortium edited their review of RAB3GAP1
Intellectual disability RAB39B BRIDGE consortium edited their review of RAB39B
Intellectual disability RAB23 BRIDGE consortium edited their review of RAB23
Intellectual disability RAB18 BRIDGE consortium edited their review of RAB18
Intellectual disability QRICH1 BRIDGE consortium edited their review of QRICH1
Intellectual disability QDPR BRIDGE consortium edited their review of QDPR
Intellectual disability QARS BRIDGE consortium edited their review of QARS
Intellectual disability PYGL BRIDGE consortium edited their review of PYGL
Intellectual disability PYCR1 BRIDGE consortium edited their review of PYCR1
Intellectual disability PURA BRIDGE consortium edited their review of PURA
Intellectual disability PUF60 BRIDGE consortium edited their review of PUF60
Intellectual disability PTS BRIDGE consortium edited their review of PTS
Intellectual disability PTPN11 BRIDGE consortium edited their review of PTPN11
Intellectual disability PTHLH BRIDGE consortium edited their review of PTHLH
Intellectual disability PTH1R BRIDGE consortium edited their review of PTH1R
Intellectual disability PTF1A BRIDGE consortium edited their review of PTF1A
Intellectual disability PTEN BRIDGE consortium edited their review of PTEN
Intellectual disability PTDSS1 BRIDGE consortium edited their review of PTDSS1
Intellectual disability PTCHD1 BRIDGE consortium edited their review of PTCHD1
Intellectual disability PTCH1 BRIDGE consortium edited their review of PTCH1
Intellectual disability PSPH BRIDGE consortium edited their review of PSPH
Intellectual disability PSMD12 BRIDGE consortium edited their review of PSMD12
Intellectual disability PSMB8 BRIDGE consortium edited their review of PSMB8
Intellectual disability PSEN1 BRIDGE consortium edited their review of PSEN1
Intellectual disability PSAP BRIDGE consortium edited their review of PSAP
Intellectual disability PRX BRIDGE consortium edited their review of PRX
Intellectual disability PRUNE BRIDGE consortium edited their review of PRUNE
Intellectual disability PRSS56 BRIDGE consortium edited their review of PRSS56
Intellectual disability PRSS12 BRIDGE consortium edited their review of PRSS12
Intellectual disability PRRT2 BRIDGE consortium edited their review of PRRT2
Intellectual disability PRPS1 BRIDGE consortium edited their review of PRPS1
Intellectual disability PROP1 BRIDGE consortium edited their review of PROP1
Intellectual disability PRMT7 BRIDGE consortium edited their review of PRMT7
Intellectual disability PRKRA BRIDGE consortium edited their review of PRKRA
Intellectual disability PRKD1 BRIDGE consortium edited their review of PRKD1
Intellectual disability PRKCG BRIDGE consortium edited their review of PRKCG
Intellectual disability PRKAR1A BRIDGE consortium edited their review of PRKAR1A
Intellectual disability PRICKLE2 BRIDGE consortium edited their review of PRICKLE2
Intellectual disability PRICKLE1 BRIDGE consortium edited their review of PRICKLE1
Intellectual disability PRDM12 BRIDGE consortium edited their review of PRDM12
Intellectual disability PQBP1 BRIDGE consortium edited their review of PQBP1
Intellectual disability PPT1 BRIDGE consortium edited their review of PPT1
Intellectual disability PPP2R5D BRIDGE consortium edited their review of PPP2R5D
Intellectual disability PPP2R2B BRIDGE consortium edited their review of PPP2R2B
Intellectual disability PPP2R1A BRIDGE consortium edited their review of PPP2R1A
Intellectual disability PPP1CB BRIDGE consortium edited their review of PPP1CB
Intellectual disability PPM1D BRIDGE consortium edited their review of PPM1D
Intellectual disability PPA2 BRIDGE consortium edited their review of PPA2
Intellectual disability POU1F1 BRIDGE consortium edited their review of POU1F1
Intellectual disability PORCN BRIDGE consortium edited their review of PORCN
Intellectual disability POMT2 BRIDGE consortium edited their review of POMT2
Intellectual disability POMT1 BRIDGE consortium edited their review of POMT1
Intellectual disability POMGNT2 BRIDGE consortium edited their review of POMGNT2
Intellectual disability POMGNT1 BRIDGE consortium edited their review of POMGNT1
Intellectual disability POLR3B BRIDGE consortium edited their review of POLR3B
Intellectual disability POLR3A BRIDGE consortium edited their review of POLR3A
Intellectual disability POLR1D BRIDGE consortium edited their review of POLR1D
Intellectual disability POLR1C BRIDGE consortium edited their review of POLR1C
Intellectual disability POLG BRIDGE consortium edited their review of POLG
Intellectual disability POLD1 BRIDGE consortium edited their review of POLD1
Intellectual disability POGZ BRIDGE consortium edited their review of POGZ
Intellectual disability POC1B BRIDGE consortium edited their review of POC1B
Intellectual disability POC1A BRIDGE consortium edited their review of POC1A
Intellectual disability PNPT1 BRIDGE consortium edited their review of PNPT1
Intellectual disability PNPO BRIDGE consortium edited their review of PNPO
Intellectual disability PNPLA6 BRIDGE consortium edited their review of PNPLA6
Intellectual disability PNKP BRIDGE consortium edited their review of PNKP
Intellectual disability PNKD BRIDGE consortium edited their review of PNKD
Intellectual disability PMS2 BRIDGE consortium edited their review of PMS2
Intellectual disability PMP22 BRIDGE consortium edited their review of PMP22
Intellectual disability PMM2 BRIDGE consortium edited their review of PMM2
Intellectual disability PLP1 BRIDGE consortium edited their review of PLP1
Intellectual disability PLOD2 BRIDGE consortium edited their review of PLOD2
Intellectual disability PLOD1 BRIDGE consortium edited their review of PLOD1
Intellectual disability PLK4 BRIDGE consortium edited their review of PLK4
Intellectual disability PLEC BRIDGE consortium edited their review of PLEC
Intellectual disability PLCE1 BRIDGE consortium edited their review of PLCE1
Intellectual disability PLCB1 BRIDGE consortium edited their review of PLCB1
Intellectual disability PLAA BRIDGE consortium edited their review of PLAA
Intellectual disability PLA2G6 BRIDGE consortium edited their review of PLA2G6
Intellectual disability PKHD1 BRIDGE consortium edited their review of PKHD1
Intellectual disability PKD1L1 BRIDGE consortium edited their review of PKD1L1
Intellectual disability PITX3 BRIDGE consortium edited their review of PITX3
Intellectual disability PITX2 BRIDGE consortium edited their review of PITX2
Intellectual disability PINK1 BRIDGE consortium edited their review of PINK1
Intellectual disability PIK3R2 BRIDGE consortium edited their review of PIK3R2
Intellectual disability PIK3R1 BRIDGE consortium edited their review of PIK3R1
Intellectual disability PIK3CA BRIDGE consortium edited their review of PIK3CA
Intellectual disability PIGV BRIDGE consortium edited their review of PIGV
Intellectual disability PIGT BRIDGE consortium edited their review of PIGT
Intellectual disability PIGO BRIDGE consortium edited their review of PIGO
Intellectual disability PIGN BRIDGE consortium edited their review of PIGN
Intellectual disability PIGL BRIDGE consortium edited their review of PIGL
Intellectual disability PIGA BRIDGE consortium edited their review of PIGA
Intellectual disability PIEZO2 BRIDGE consortium edited their review of PIEZO2
Intellectual disability PHOX2B BRIDGE consortium edited their review of PHOX2B
Intellectual disability PHGDH BRIDGE consortium edited their review of PHGDH
Intellectual disability PHF8 BRIDGE consortium edited their review of PHF8
Intellectual disability PHF6 BRIDGE consortium edited their review of PHF6
Intellectual disability PGM3 BRIDGE consortium edited their review of PGM3
Intellectual disability PGM1 BRIDGE consortium edited their review of PGM1
Intellectual disability PGK1 BRIDGE consortium edited their review of PGK1
Intellectual disability PGAP3 BRIDGE consortium edited their review of PGAP3
Intellectual disability PGAP2 BRIDGE consortium edited their review of PGAP2
Intellectual disability PGAP1 BRIDGE consortium edited their review of PGAP1
Intellectual disability PEX7 BRIDGE consortium edited their review of PEX7
Intellectual disability PEX6 BRIDGE consortium edited their review of PEX6
Intellectual disability PEX5 BRIDGE consortium edited their review of PEX5
Intellectual disability PEX3 BRIDGE consortium edited their review of PEX3
Intellectual disability PEX26 BRIDGE consortium edited their review of PEX26
Intellectual disability PEX2 BRIDGE consortium edited their review of PEX2
Intellectual disability PEX19 BRIDGE consortium edited their review of PEX19
Intellectual disability PEX16 BRIDGE consortium edited their review of PEX16
Intellectual disability PEX14 BRIDGE consortium edited their review of PEX14
Intellectual disability PEX13 BRIDGE consortium edited their review of PEX13
Intellectual disability PEX12 BRIDGE consortium edited their review of PEX12
Intellectual disability PEX10 BRIDGE consortium edited their review of PEX10
Intellectual disability PEX1 BRIDGE consortium edited their review of PEX1
Intellectual disability PEPD BRIDGE consortium edited their review of PEPD
Intellectual disability PDYN BRIDGE consortium edited their review of PDYN
Intellectual disability PDSS2 BRIDGE consortium edited their review of PDSS2
Intellectual disability PDHX BRIDGE consortium edited their review of PDHX
Intellectual disability PDHA1 BRIDGE consortium edited their review of PDHA1
Intellectual disability PDGFRB BRIDGE consortium edited their review of PDGFRB
Intellectual disability PDGFB BRIDGE consortium edited their review of PDGFB
Intellectual disability PDE6G BRIDGE consortium edited their review of PDE6G
Intellectual disability PDE4D BRIDGE consortium edited their review of PDE4D
Intellectual disability PDCD10 BRIDGE consortium edited their review of PDCD10
Intellectual disability PCYT1A BRIDGE consortium edited their review of PCYT1A
Intellectual disability PCNT BRIDGE consortium edited their review of PCNT
Intellectual disability PCDH19 BRIDGE consortium edited their review of PCDH19
Intellectual disability PCCB BRIDGE consortium edited their review of PCCB
Intellectual disability PCCA BRIDGE consortium edited their review of PCCA
Intellectual disability PCBD1 BRIDGE consortium edited their review of PCBD1
Intellectual disability PC BRIDGE consortium edited their review of PC
Intellectual disability PAX9 BRIDGE consortium edited their review of PAX9
Intellectual disability PAX8 BRIDGE consortium edited their review of PAX8
Intellectual disability PAX6 BRIDGE consortium edited their review of PAX6
Intellectual disability PAX3 BRIDGE consortium edited their review of PAX3
Intellectual disability PAX2 BRIDGE consortium edited their review of PAX2
Intellectual disability PARN BRIDGE consortium edited their review of PARN
Intellectual disability PARK7 BRIDGE consortium edited their review of PARK7
Intellectual disability PARK2 BRIDGE consortium edited their review of PARK2
Intellectual disability PAPSS2 BRIDGE consortium edited their review of PAPSS2
Intellectual disability PANK2 BRIDGE consortium edited their review of PANK2
Intellectual disability PALB2 BRIDGE consortium edited their review of PALB2
Intellectual disability PAK3 BRIDGE consortium edited their review of PAK3
Intellectual disability PAH BRIDGE consortium edited their review of PAH
Intellectual disability PAFAH1B1 BRIDGE consortium edited their review of PAFAH1B1
Intellectual disability PACS1 BRIDGE consortium edited their review of PACS1
Intellectual disability P3H1 BRIDGE consortium edited their review of P3H1
Intellectual disability OXCT1 BRIDGE consortium edited their review of OXCT1
Intellectual disability OTX2 BRIDGE consortium edited their review of OTX2
Intellectual disability OTULIN BRIDGE consortium edited their review of OTULIN
Intellectual disability OTUD6B BRIDGE consortium edited their review of OTUD6B
Intellectual disability OTOGL BRIDGE consortium edited their review of OTOGL
Intellectual disability OTC BRIDGE consortium edited their review of OTC
Intellectual disability ORC6 BRIDGE consortium edited their review of ORC6
Intellectual disability ORC4 BRIDGE consortium edited their review of ORC4
Intellectual disability ORC1 BRIDGE consortium edited their review of ORC1
Intellectual disability OPHN1 BRIDGE consortium edited their review of OPHN1
Intellectual disability OPA3 BRIDGE consortium edited their review of OPA3
Intellectual disability OFD1 BRIDGE consortium edited their review of OFD1
Intellectual disability OCRL BRIDGE consortium edited their review of OCRL
Intellectual disability OBSL1 BRIDGE consortium edited their review of OBSL1
Intellectual disability NYX BRIDGE consortium edited their review of NYX
Intellectual disability NUP107 BRIDGE consortium edited their review of NUP107
Intellectual disability NUBPL BRIDGE consortium edited their review of NUBPL
Intellectual disability NTRK1 BRIDGE consortium edited their review of NTRK1
Intellectual disability NT5C3A BRIDGE consortium edited their review of NT5C3A
Intellectual disability NT5C2 BRIDGE consortium edited their review of NT5C2
Intellectual disability NSDHL BRIDGE consortium edited their review of NSDHL
Intellectual disability NSD1 BRIDGE consortium edited their review of NSD1
Intellectual disability NRAS BRIDGE consortium edited their review of NRAS
Intellectual disability NR5A1 BRIDGE consortium edited their review of NR5A1
Intellectual disability NR2F2 BRIDGE consortium edited their review of NR2F2
Intellectual disability NR2F1 BRIDGE consortium edited their review of NR2F1
Intellectual disability NPR2 BRIDGE consortium edited their review of NPR2
Intellectual disability NPHS2 BRIDGE consortium edited their review of NPHS2
Intellectual disability NPHS1 BRIDGE consortium edited their review of NPHS1
Intellectual disability NPHP4 BRIDGE consortium edited their review of NPHP4
Intellectual disability NPHP3 BRIDGE consortium edited their review of NPHP3
Intellectual disability NPHP1 BRIDGE consortium edited their review of NPHP1
Intellectual disability NPC2 BRIDGE consortium edited their review of NPC2
Intellectual disability NPC1 BRIDGE consortium edited their review of NPC1
Intellectual disability NOTCH2 BRIDGE consortium edited their review of NOTCH2
Intellectual disability NOP56 BRIDGE consortium edited their review of NOP56
Intellectual disability NONO BRIDGE consortium edited their review of NONO
Intellectual disability NOG BRIDGE consortium edited their review of NOG
Intellectual disability NODAL BRIDGE consortium edited their review of NODAL
Intellectual disability NMNAT1 BRIDGE consortium edited their review of NMNAT1
Intellectual disability NKX3-2 BRIDGE consortium edited their review of NKX3-2
Intellectual disability NKX2-5 BRIDGE consortium edited their review of NKX2-5
Intellectual disability NKX2-1 BRIDGE consortium edited their review of NKX2-1
Intellectual disability NIPBL BRIDGE consortium edited their review of NIPBL
Intellectual disability NIPA1 BRIDGE consortium edited their review of NIPA1
Intellectual disability NHS BRIDGE consortium edited their review of NHS
Intellectual disability NHLRC1 BRIDGE consortium edited their review of NHLRC1
Intellectual disability NHEJ1 BRIDGE consortium edited their review of NHEJ1
Intellectual disability NGLY1 BRIDGE consortium edited their review of NGLY1
Intellectual disability NFU1 BRIDGE consortium edited their review of NFU1
Intellectual disability NFIX BRIDGE consortium edited their review of NFIX
Intellectual disability NF1 BRIDGE consortium edited their review of NF1
Intellectual disability NEU1 BRIDGE consortium edited their review of NEU1
Intellectual disability NEK1 BRIDGE consortium edited their review of NEK1
Intellectual disability NEFL BRIDGE consortium edited their review of NEFL
Intellectual disability NDUFV1 BRIDGE consortium edited their review of NDUFV1
Intellectual disability NDUFS8 BRIDGE consortium edited their review of NDUFS8
Intellectual disability NDUFS7 BRIDGE consortium edited their review of NDUFS7
Intellectual disability NDUFS4 BRIDGE consortium edited their review of NDUFS4
Intellectual disability NDUFS1 BRIDGE consortium edited their review of NDUFS1
Intellectual disability NDUFA1 BRIDGE consortium edited their review of NDUFA1
Intellectual disability NDRG1 BRIDGE consortium edited their review of NDRG1
Intellectual disability NDP BRIDGE consortium edited their review of NDP
Intellectual disability NDE1 BRIDGE consortium edited their review of NDE1
Intellectual disability NBN BRIDGE consortium edited their review of NBN
Intellectual disability NBAS BRIDGE consortium edited their review of NBAS
Intellectual disability NANS BRIDGE consortium edited their review of NANS
Intellectual disability NALCN BRIDGE consortium edited their review of NALCN
Intellectual disability NAGS BRIDGE consortium edited their review of NAGS
Intellectual disability NAGLU BRIDGE consortium edited their review of NAGLU
Intellectual disability NAGA BRIDGE consortium edited their review of NAGA
Intellectual disability NACC1 BRIDGE consortium edited their review of NACC1
Intellectual disability NAA10 BRIDGE consortium edited their review of NAA10
Intellectual disability MYT1L BRIDGE consortium edited their review of MYT1L
Intellectual disability MYO7A BRIDGE consortium edited their review of MYO7A
Intellectual disability MYO5B BRIDGE consortium edited their review of MYO5B
Intellectual disability MYO5A BRIDGE consortium edited their review of MYO5A
Intellectual disability MYH9 BRIDGE consortium edited their review of MYH9
Intellectual disability MYH8 BRIDGE consortium edited their review of MYH8
Intellectual disability MYH6 BRIDGE consortium edited their review of MYH6
Intellectual disability MYH3 BRIDGE consortium edited their review of MYH3
Intellectual disability MYCN BRIDGE consortium edited their review of MYCN
Intellectual disability MYBPC1 BRIDGE consortium edited their review of MYBPC1
Intellectual disability MUT BRIDGE consortium edited their review of MUT
Intellectual disability MTTP BRIDGE consortium edited their review of MTTP
Intellectual disability MTRR BRIDGE consortium edited their review of MTRR
Intellectual disability MTR BRIDGE consortium edited their review of MTR
Intellectual disability MTPAP BRIDGE consortium edited their review of MTPAP
Intellectual disability MTOR BRIDGE consortium edited their review of MTOR
Intellectual disability MTO1 BRIDGE consortium edited their review of MTO1
Intellectual disability MTMR2 BRIDGE consortium edited their review of MTMR2
Intellectual disability MTM1 BRIDGE consortium edited their review of MTM1
Intellectual disability MTHFR BRIDGE consortium edited their review of MTHFR
Intellectual disability MT-TK BRIDGE consortium edited their review of MT-TK
Intellectual disability MT-ND4 BRIDGE consortium edited their review of MT-ND4
Intellectual disability MT-ND1 BRIDGE consortium edited their review of MT-ND1
Intellectual disability MT-ATP6 BRIDGE consortium edited their review of MT-ATP6
Intellectual disability MSX2 BRIDGE consortium edited their review of MSX2
Intellectual disability MSX1 BRIDGE consortium edited their review of MSX1
Intellectual disability MSL3 BRIDGE consortium edited their review of MSL3
Intellectual disability MRE11A BRIDGE consortium edited their review of MRE11A
Intellectual disability MPZ BRIDGE consortium edited their review of MPZ
Intellectual disability MPV17 BRIDGE consortium edited their review of MPV17
Intellectual disability MPLKIP BRIDGE consortium edited their review of MPLKIP
Intellectual disability MPI BRIDGE consortium edited their review of MPI
Intellectual disability MPDU1 BRIDGE consortium edited their review of MPDU1
Intellectual disability MOCS2 BRIDGE consortium edited their review of MOCS2
Intellectual disability MOCS1 BRIDGE consortium edited their review of MOCS1
Intellectual disability MNX1 BRIDGE consortium edited their review of MNX1
Intellectual disability MMP21 BRIDGE consortium edited their review of MMP21
Intellectual disability MMP13 BRIDGE consortium edited their review of MMP13
Intellectual disability MMADHC BRIDGE consortium edited their review of MMADHC
Intellectual disability MMACHC BRIDGE consortium edited their review of MMACHC
Intellectual disability MMAB BRIDGE consortium edited their review of MMAB
Intellectual disability MMAA BRIDGE consortium edited their review of MMAA
Intellectual disability MLYCD BRIDGE consortium edited their review of MLYCD
Intellectual disability MLC1 BRIDGE consortium edited their review of MLC1
Intellectual disability MKS1 BRIDGE consortium edited their review of MKS1
Intellectual disability MKKS BRIDGE consortium edited their review of MKKS
Intellectual disability MITF BRIDGE consortium edited their review of MITF
Intellectual disability MID1 BRIDGE consortium edited their review of MID1
Intellectual disability MICU1 BRIDGE consortium edited their review of MICU1
Intellectual disability MGP BRIDGE consortium edited their review of MGP
Intellectual disability MGAT2 BRIDGE consortium edited their review of MGAT2
Intellectual disability MFSD8 BRIDGE consortium edited their review of MFSD8
Intellectual disability MFSD2A BRIDGE consortium edited their review of MFSD2A
Intellectual disability MFRP BRIDGE consortium edited their review of MFRP
Intellectual disability MESP2 BRIDGE consortium edited their review of MESP2
Intellectual disability MEGF8 BRIDGE consortium edited their review of MEGF8
Intellectual disability MEGF10 BRIDGE consortium edited their review of MEGF10
Intellectual disability MEF2C BRIDGE consortium edited their review of MEF2C
Intellectual disability MED17 BRIDGE consortium edited their review of MED17
Intellectual disability MED12 BRIDGE consortium edited their review of MED12
Intellectual disability MECR BRIDGE consortium edited their review of MECR
Intellectual disability MECP2 BRIDGE consortium edited their review of MECP2
Intellectual disability MDH2 BRIDGE consortium edited their review of MDH2
Intellectual disability MCPH1 BRIDGE consortium edited their review of MCPH1
Intellectual disability MCOLN1 BRIDGE consortium edited their review of MCOLN1
Intellectual disability MCEE BRIDGE consortium edited their review of MCEE
Intellectual disability MCCC2 BRIDGE consortium edited their review of MCCC2
Intellectual disability MCCC1 BRIDGE consortium edited their review of MCCC1
Intellectual disability MC2R BRIDGE consortium edited their review of MC2R
Intellectual disability MATN3 BRIDGE consortium edited their review of MATN3
Intellectual disability MASP1 BRIDGE consortium edited their review of MASP1
Intellectual disability MARS2 BRIDGE consortium edited their review of MARS2
Intellectual disability MAPT BRIDGE consortium edited their review of MAPT
Intellectual disability MAPRE2 BRIDGE consortium edited their review of MAPRE2
Intellectual disability MAP3K1 BRIDGE consortium edited their review of MAP3K1
Intellectual disability MAP2K2 BRIDGE consortium edited their review of MAP2K2
Intellectual disability MAP2K1 BRIDGE consortium edited their review of MAP2K1
Intellectual disability MAOA BRIDGE consortium edited their review of MAOA
Intellectual disability MANBA BRIDGE consortium edited their review of MANBA
Intellectual disability MAN2B1 BRIDGE consortium edited their review of MAN2B1
Intellectual disability MAGEL2 BRIDGE consortium edited their review of MAGEL2
Intellectual disability MAFB BRIDGE consortium edited their review of MAFB
Intellectual disability MAF BRIDGE consortium edited their review of MAF
Intellectual disability MAB21L2 BRIDGE consortium edited their review of MAB21L2
Intellectual disability LYST BRIDGE consortium edited their review of LYST
Intellectual disability LTBP3 BRIDGE consortium edited their review of LTBP3
Intellectual disability LTBP2 BRIDGE consortium edited their review of LTBP2
Intellectual disability LRRK2 BRIDGE consortium edited their review of LRRK2
Intellectual disability LRRC6 BRIDGE consortium edited their review of LRRC6
Intellectual disability LRPPRC BRIDGE consortium edited their review of LRPPRC
Intellectual disability LRP5 BRIDGE consortium edited their review of LRP5
Intellectual disability LRP4 BRIDGE consortium edited their review of LRP4
Intellectual disability LRP2 BRIDGE consortium edited their review of LRP2
Intellectual disability LOXHD1 BRIDGE consortium edited their review of LOXHD1
Intellectual disability LMX1B BRIDGE consortium edited their review of LMX1B
Intellectual disability LMNA BRIDGE consortium edited their review of LMNA
Intellectual disability LMBRD1 BRIDGE consortium edited their review of LMBRD1
Intellectual disability LITAF BRIDGE consortium edited their review of LITAF
Intellectual disability LIG4 BRIDGE consortium edited their review of LIG4
Intellectual disability LHX4 BRIDGE consortium edited their review of LHX4
Intellectual disability LHX3 BRIDGE consortium edited their review of LHX3
Intellectual disability LGI4 BRIDGE consortium edited their review of LGI4
Intellectual disability LGI1 BRIDGE consortium edited their review of LGI1
Intellectual disability LFNG BRIDGE consortium edited their review of LFNG
Intellectual disability LEMD3 BRIDGE consortium edited their review of LEMD3
Intellectual disability LDB3 BRIDGE consortium edited their review of LDB3
Intellectual disability LBR BRIDGE consortium edited their review of LBR
Intellectual disability LARP7 BRIDGE consortium edited their review of LARP7
Intellectual disability LARGE BRIDGE consortium edited their review of LARGE
Intellectual disability LAMP2 BRIDGE consortium edited their review of LAMP2
Intellectual disability LAMC3 BRIDGE consortium edited their review of LAMC3
Intellectual disability LAMA2 BRIDGE consortium edited their review of LAMA2
Intellectual disability LAMA1 BRIDGE consortium edited their review of LAMA1
Intellectual disability L2HGDH BRIDGE consortium edited their review of L2HGDH
Intellectual disability L1CAM BRIDGE consortium edited their review of L1CAM
Intellectual disability KRIT1 BRIDGE consortium edited their review of KRIT1
Intellectual disability KRAS BRIDGE consortium edited their review of KRAS
Intellectual disability KMT2D BRIDGE consortium edited their review of KMT2D
Intellectual disability KMT2B BRIDGE consortium edited their review of KMT2B
Intellectual disability KMT2A BRIDGE consortium edited their review of KMT2A
Intellectual disability KLHL40 BRIDGE consortium edited their review of KLHL40
Intellectual disability KLF1 BRIDGE consortium edited their review of KLF1
Intellectual disability KIT BRIDGE consortium edited their review of KIT
Intellectual disability KIRREL3 BRIDGE consortium edited their review of KIRREL3
Intellectual disability KIF7 BRIDGE consortium edited their review of KIF7
Intellectual disability KIF5A BRIDGE consortium edited their review of KIF5A
Intellectual disability KIF22 BRIDGE consortium edited their review of KIF22
Intellectual disability KIF1C BRIDGE consortium edited their review of KIF1C
Intellectual disability KIF1A BRIDGE consortium edited their review of KIF1A
Intellectual disability KIF11 BRIDGE consortium edited their review of KIF11
Intellectual disability KIAA2022 BRIDGE consortium edited their review of KIAA2022
Intellectual disability KIAA1279 BRIDGE consortium edited their review of KIAA1279
Intellectual disability KIAA0586 BRIDGE consortium edited their review of KIAA0586
Intellectual disability KIAA0196 BRIDGE consortium edited their review of KIAA0196
Intellectual disability KDM6A BRIDGE consortium edited their review of KDM6A
Intellectual disability KDM5C BRIDGE consortium edited their review of KDM5C
Intellectual disability KDM5B BRIDGE consortium edited their review of KDM5B
Intellectual disability KCTD7 BRIDGE consortium edited their review of KCTD7
Intellectual disability KCTD1 BRIDGE consortium edited their review of KCTD1
Intellectual disability KCNT1 BRIDGE consortium edited their review of KCNT1
Intellectual disability KCNQ3 BRIDGE consortium edited their review of KCNQ3
Intellectual disability KCNQ2 BRIDGE consortium edited their review of KCNQ2
Intellectual disability KCNQ1 BRIDGE consortium edited their review of KCNQ1
Intellectual disability KCNJ11 BRIDGE consortium edited their review of KCNJ11
Intellectual disability KCNJ10 BRIDGE consortium edited their review of KCNJ10
Intellectual disability KCNE1 BRIDGE consortium edited their review of KCNE1
Intellectual disability KCND3 BRIDGE consortium edited their review of KCND3
Intellectual disability KCNC3 BRIDGE consortium edited their review of KCNC3
Intellectual disability KCNC1 BRIDGE consortium edited their review of KCNC1
Intellectual disability KCNB1 BRIDGE consortium edited their review of KCNB1
Intellectual disability KCNA2 BRIDGE consortium edited their review of KCNA2
Intellectual disability KCNA1 BRIDGE consortium edited their review of KCNA1
Intellectual disability KBTBD13 BRIDGE consortium edited their review of KBTBD13
Intellectual disability KAT6B BRIDGE consortium edited their review of KAT6B
Intellectual disability KAT6A BRIDGE consortium edited their review of KAT6A
Intellectual disability KARS BRIDGE consortium edited their review of KARS
Intellectual disability KANSL1 BRIDGE consortium edited their review of KANSL1
Intellectual disability JAK3 BRIDGE consortium edited their review of JAK3
Intellectual disability JAGN1 BRIDGE consortium edited their review of JAGN1
Intellectual disability JAG1 BRIDGE consortium edited their review of JAG1
Intellectual disability IVD BRIDGE consortium edited their review of IVD
Intellectual disability ITPR1 BRIDGE consortium edited their review of ITPR1
Intellectual disability ITGA7 BRIDGE consortium edited their review of ITGA7
Intellectual disability ITGA3 BRIDGE consortium edited their review of ITGA3
Intellectual disability ISPD BRIDGE consortium edited their review of ISPD
Intellectual disability IRF6 BRIDGE consortium edited their review of IRF6
Intellectual disability IQSEC2 BRIDGE consortium edited their review of IQSEC2
Intellectual disability INPPL1 BRIDGE consortium edited their review of INPPL1
Intellectual disability INPP5K BRIDGE consortium edited their review of INPP5K
Intellectual disability INPP5E BRIDGE consortium edited their review of INPP5E
Intellectual disability IMPAD1 BRIDGE consortium edited their review of IMPAD1
Intellectual disability IL1RAPL1 BRIDGE consortium edited their review of IL1RAPL1
Intellectual disability IL11RA BRIDGE consortium edited their review of IL11RA
Intellectual disability IKBKG BRIDGE consortium edited their review of IKBKG
Intellectual disability IHH BRIDGE consortium edited their review of IHH
Intellectual disability IGSF1 BRIDGE consortium edited their review of IGSF1
Intellectual disability IGHMBP2 BRIDGE consortium edited their review of IGHMBP2
Intellectual disability IGF2 BRIDGE consortium edited their review of IGF2
Intellectual disability IGF1R BRIDGE consortium edited their review of IGF1R
Intellectual disability IGF1 BRIDGE consortium edited their review of IGF1
Intellectual disability IFT80 BRIDGE consortium edited their review of IFT80
Intellectual disability IFT43 BRIDGE consortium edited their review of IFT43
Intellectual disability IFT172 BRIDGE consortium edited their review of IFT172
Intellectual disability IFT140 BRIDGE consortium edited their review of IFT140
Intellectual disability IFT122 BRIDGE consortium edited their review of IFT122
Intellectual disability IFITM5 BRIDGE consortium edited their review of IFITM5
Intellectual disability IFIH1 BRIDGE consortium edited their review of IFIH1
Intellectual disability IER3IP1 BRIDGE consortium edited their review of IER3IP1
Intellectual disability IDUA BRIDGE consortium edited their review of IDUA
Intellectual disability IDS BRIDGE consortium edited their review of IDS
Intellectual disability HYLS1 BRIDGE consortium edited their review of HYLS1
Intellectual disability HYDIN BRIDGE consortium edited their review of HYDIN
Intellectual disability HYAL1 BRIDGE consortium edited their review of HYAL1
Intellectual disability HUWE1 BRIDGE consortium edited their review of HUWE1
Intellectual disability HTT BRIDGE consortium edited their review of HTT
Intellectual disability HSPG2 BRIDGE consortium edited their review of HSPG2
Intellectual disability HSPD1 BRIDGE consortium edited their review of HSPD1
Intellectual disability HSF4 BRIDGE consortium edited their review of HSF4
Intellectual disability HSD3B7 BRIDGE consortium edited their review of HSD3B7
Intellectual disability HSD17B4 BRIDGE consortium edited their review of HSD17B4
Intellectual disability HSD17B10 BRIDGE consortium edited their review of HSD17B10
Intellectual disability HRAS BRIDGE consortium edited their review of HRAS
Intellectual disability HR BRIDGE consortium edited their review of HR
Intellectual disability HPSE2 BRIDGE consortium edited their review of HPSE2
Intellectual disability HPS1 BRIDGE consortium edited their review of HPS1
Intellectual disability HPRT1 BRIDGE consortium edited their review of HPRT1
Intellectual disability HPGD BRIDGE consortium edited their review of HPGD
Intellectual disability HOXD13 BRIDGE consortium edited their review of HOXD13
Intellectual disability HOXC13 BRIDGE consortium edited their review of HOXC13
Intellectual disability HOXA13 BRIDGE consortium edited their review of HOXA13
Intellectual disability HOXA1 BRIDGE consortium edited their review of HOXA1
Intellectual disability HNRNPU BRIDGE consortium edited their review of HNRNPU
Intellectual disability HNF4A BRIDGE consortium edited their review of HNF4A
Intellectual disability HNF1B BRIDGE consortium edited their review of HNF1B
Intellectual disability HMGCS2 BRIDGE consortium edited their review of HMGCS2
Intellectual disability HMGCL BRIDGE consortium edited their review of HMGCL
Intellectual disability HLCS BRIDGE consortium edited their review of HLCS
Intellectual disability HK1 BRIDGE consortium edited their review of HK1
Intellectual disability HIVEP2 BRIDGE consortium edited their review of HIVEP2
Intellectual disability HINT1 BRIDGE consortium edited their review of HINT1
Intellectual disability HIBCH BRIDGE consortium edited their review of HIBCH
Intellectual disability HGSNAT BRIDGE consortium edited their review of HGSNAT
Intellectual disability HEXB BRIDGE consortium edited their review of HEXB
Intellectual disability HEXA BRIDGE consortium edited their review of HEXA
Intellectual disability HECW2 BRIDGE consortium edited their review of HECW2
Intellectual disability HDAC8 BRIDGE consortium edited their review of HDAC8
Intellectual disability HDAC4 BRIDGE consortium edited their review of HDAC4
Intellectual disability HCN1 BRIDGE consortium edited their review of HCN1
Intellectual disability HCFC1 BRIDGE consortium edited their review of HCFC1
Intellectual disability HCCS BRIDGE consortium edited their review of HCCS
Intellectual disability HAX1 BRIDGE consortium edited their review of HAX1
Intellectual disability HADHA BRIDGE consortium edited their review of HADHA
Intellectual disability HADH BRIDGE consortium edited their review of HADH
Intellectual disability HACE1 BRIDGE consortium edited their review of HACE1
Intellectual disability GUSB BRIDGE consortium edited their review of GUSB
Intellectual disability GUCY2C BRIDGE consortium edited their review of GUCY2C
Intellectual disability GTPBP3 BRIDGE consortium edited their review of GTPBP3
Intellectual disability GTF2H5 BRIDGE consortium edited their review of GTF2H5
Intellectual disability GRN BRIDGE consortium edited their review of GRN
Intellectual disability GRM6 BRIDGE consortium edited their review of GRM6
Intellectual disability GRM1 BRIDGE consortium edited their review of GRM1
Intellectual disability GRIN2B BRIDGE consortium edited their review of GRIN2B
Intellectual disability GRIN2A BRIDGE consortium edited their review of GRIN2A
Intellectual disability GRIN1 BRIDGE consortium edited their review of GRIN1
Intellectual disability GRIK2 BRIDGE consortium edited their review of GRIK2
Intellectual disability GRID2 BRIDGE consortium edited their review of GRID2
Intellectual disability GRIA3 BRIDGE consortium edited their review of GRIA3
Intellectual disability GRHL3 BRIDGE consortium edited their review of GRHL3
Intellectual disability GPSM2 BRIDGE consortium edited their review of GPSM2
Intellectual disability GPR179 BRIDGE consortium edited their review of GPR179
Intellectual disability GPC3 BRIDGE consortium edited their review of GPC3
Intellectual disability GOSR2 BRIDGE consortium edited their review of GOSR2
Intellectual disability GORAB BRIDGE consortium edited their review of GORAB
Intellectual disability GNS BRIDGE consortium edited their review of GNS
Intellectual disability GNPTG BRIDGE consortium edited their review of GNPTG
Intellectual disability GNPTAB BRIDGE consortium edited their review of GNPTAB
Intellectual disability GNPAT BRIDGE consortium edited their review of GNPAT
Intellectual disability GNB1 BRIDGE consortium edited their review of GNB1
Intellectual disability GNAS BRIDGE consortium edited their review of GNAS
Intellectual disability GNAO1 BRIDGE consortium edited their review of GNAO1
Intellectual disability GNAL BRIDGE consortium edited their review of GNAL
Intellectual disability GNAI3 BRIDGE consortium edited their review of GNAI3
Intellectual disability GNAI1 BRIDGE consortium edited their review of GNAI1
Intellectual disability GMPPB BRIDGE consortium edited their review of GMPPB
Intellectual disability GMPPA BRIDGE consortium edited their review of GMPPA
Intellectual disability GM2A BRIDGE consortium edited their review of GM2A
Intellectual disability GLUL BRIDGE consortium edited their review of GLUL
Intellectual disability GLUD1 BRIDGE consortium edited their review of GLUD1
Intellectual disability GLMN BRIDGE consortium edited their review of GLMN
Intellectual disability GLIS3 BRIDGE consortium edited their review of GLIS3
Intellectual disability GLI3 BRIDGE consortium edited their review of GLI3
Intellectual disability GLI2 BRIDGE consortium edited their review of GLI2
Intellectual disability GLE1 BRIDGE consortium edited their review of GLE1
Intellectual disability GLDC BRIDGE consortium edited their review of GLDC
Intellectual disability GLB1 BRIDGE consortium edited their review of GLB1
Intellectual disability GK BRIDGE consortium edited their review of GK
Intellectual disability GJC2 BRIDGE consortium edited their review of GJC2
Intellectual disability GJB3 BRIDGE consortium edited their review of GJB3
Intellectual disability GJB2 BRIDGE consortium edited their review of GJB2
Intellectual disability GJB1 BRIDGE consortium edited their review of GJB1
Intellectual disability GJA8 BRIDGE consortium edited their review of GJA8
Intellectual disability GJA3 BRIDGE consortium edited their review of GJA3
Intellectual disability GJA1 BRIDGE consortium edited their review of GJA1
Intellectual disability GHR BRIDGE consortium edited their review of GHR
Intellectual disability GFM1 BRIDGE consortium edited their review of GFM1
Intellectual disability GFAP BRIDGE consortium edited their review of GFAP
Intellectual disability GDI1 BRIDGE consortium edited their review of GDI1
Intellectual disability GDF6 BRIDGE consortium edited their review of GDF6
Intellectual disability GDF5 BRIDGE consortium edited their review of GDF5
Intellectual disability GDAP1 BRIDGE consortium edited their review of GDAP1
Intellectual disability GCH1 BRIDGE consortium edited their review of GCH1
Intellectual disability GCDH BRIDGE consortium edited their review of GCDH
Intellectual disability GBA2 BRIDGE consortium edited their review of GBA2
Intellectual disability GBA BRIDGE consortium edited their review of GBA
Intellectual disability GATM BRIDGE consortium edited their review of GATM
Intellectual disability GATAD2B BRIDGE consortium edited their review of GATAD2B
Intellectual disability GATA6 BRIDGE consortium edited their review of GATA6
Intellectual disability GATA4 BRIDGE consortium edited their review of GATA4
Intellectual disability GATA2 BRIDGE consortium edited their review of GATA2
Intellectual disability GAS8 BRIDGE consortium edited their review of GAS8
Intellectual disability GAMT BRIDGE consortium edited their review of GAMT
Intellectual disability GALT BRIDGE consortium edited their review of GALT
Intellectual disability GALNS BRIDGE consortium edited their review of GALNS
Intellectual disability GALK1 BRIDGE consortium edited their review of GALK1
Intellectual disability GALE BRIDGE consortium edited their review of GALE
Intellectual disability GALC BRIDGE consortium edited their review of GALC
Intellectual disability GAD1 BRIDGE consortium edited their review of GAD1
Intellectual disability GABRG2 BRIDGE consortium edited their review of GABRG2
Intellectual disability GABRB3 BRIDGE consortium edited their review of GABRB3
Intellectual disability GABRA1 BRIDGE consortium edited their review of GABRA1
Intellectual disability GAA BRIDGE consortium edited their review of GAA
Intellectual disability FZD6 BRIDGE consortium edited their review of FZD6
Intellectual disability FYCO1 BRIDGE consortium edited their review of FYCO1
Intellectual disability FXN BRIDGE consortium edited their review of FXN
Intellectual disability FUCA1 BRIDGE consortium edited their review of FUCA1
Intellectual disability FTSJ1 BRIDGE consortium edited their review of FTSJ1
Intellectual disability FTL BRIDGE consortium edited their review of FTL
Intellectual disability FTCD BRIDGE consortium edited their review of FTCD
Intellectual disability FRMD7 BRIDGE consortium edited their review of FRMD7
Intellectual disability FREM2 BRIDGE consortium edited their review of FREM2
Intellectual disability FREM1 BRIDGE consortium edited their review of FREM1
Intellectual disability FRAS1 BRIDGE consortium edited their review of FRAS1
Intellectual disability FOXRED1 BRIDGE consortium edited their review of FOXRED1
Intellectual disability FOXP3 BRIDGE consortium edited their review of FOXP3
Intellectual disability FOXP1 BRIDGE consortium edited their review of FOXP1
Intellectual disability FOXN1 BRIDGE consortium edited their review of FOXN1