Activity

Date Panel Item Activity
3000 actions
Genetic Epilepsy Syndromes Gene: ALG2 Sarah Leigh classified ALG2 as Red List (low evidence)
Genetic Epilepsy Syndromes Gene: ALG12 Sarah Leigh marked gene: ALG12 as ready
Genetic Epilepsy Syndromes Gene: ALG12 Sarah Leigh classified ALG12 as Red List (low evidence)
Genetic Epilepsy Syndromes Gene: ALG1 Sarah Leigh marked gene: ALG1 as ready
Genetic Epilepsy Syndromes Gene: ALG1 Sarah Leigh classified ALG1 as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: ALDH5A1 Sarah Leigh marked gene: ALDH5A1 as ready
Genetic Epilepsy Syndromes Gene: ALDH5A1 Sarah Leigh classified ALDH5A1 as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: AKT3 Sarah Leigh marked gene: AKT3 as ready
Genetic Epilepsy Syndromes Gene: AKT3 Sarah Leigh classified AKT3 as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: AKT3 Sarah Leigh classified AKT3 as Green List (high evidence)
Intellectual disability Gene: TRIM37 Louise Daugherty classified TRIM37 as Amber List (moderate evidence)
Genetic Epilepsy Syndromes Gene: AIMP1 Sarah Leigh marked gene: AIMP1 as ready
Genetic Epilepsy Syndromes Gene: AIMP1 Sarah Leigh classified AIMP1 as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: ADGRG1 Sarah Leigh classified ADGRG1 as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: ADAR Sarah Leigh marked gene: ADAR as ready
Genetic Epilepsy Syndromes Gene: ADAR Sarah Leigh classified ADAR as Green List (high evidence)
Intellectual disability Gene: TRIM37 Louise Daugherty reviewed gene: TRIM37
Genetic Epilepsy Syndromes Gene: ACOX1 Sarah Leigh marked gene: ACOX1 as ready
Genetic Epilepsy Syndromes Gene: ACOX1 Sarah Leigh classified ACOX1 as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: ABAT Sarah Leigh marked gene: ABAT as ready
Genetic Epilepsy Syndromes Gene: ABAT Sarah Leigh classified ABAT as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: AARS2 Sarah Leigh marked gene: AARS2 as ready
Genetic Epilepsy Syndromes Gene: AARS2 Sarah Leigh classified AARS2 as Red List (low evidence)
Genetic Epilepsy Syndromes Gene: ALG8 Sarah Leigh marked gene: ALG8 as ready
Genetic Epilepsy Syndromes Gene: ALG8 Sarah Leigh classified ALG8 as Red List (low evidence)
Intellectual disability Gene: UNC13A Louise Daugherty classified UNC13A as Red List (low evidence)
Intellectual disability Gene: VPS53 Louise Daugherty classified VPS53 as Amber List (moderate evidence)
Intellectual disability Gene: VPS53 Louise Daugherty commented on gene: VPS53
Intellectual disability Gene: VPS53 Louise Daugherty commented on gene: VPS53
Intellectual disability Gene: WDFY3 Louise Daugherty classified WDFY3 as Red List (low evidence)
Intellectual disability Gene: WDR26 Louise Daugherty classified WDR26 as Green List (high evidence)
Intellectual disability Gene: ZBTB24 Louise Daugherty classified ZBTB24 as Green List (high evidence)
Intellectual disability Gene: CACNA1G Louise Daugherty reviewed gene: CACNA1G
Primary immunodeficiency disorders Gene: CEBPE Louise Daugherty edited their review of gene: CEBPE
Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Gene: STRADA Louise Daugherty classified STRADA as Green List (high evidence)
Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Gene: STRADA Louise Daugherty Added gene to panel
Hydrocephalus Gene: STRADA Louise Daugherty classified STRADA as Green List (high evidence)
Hydrocephalus Gene: STRADA Louise Daugherty Added gene to panel
Intellectual disability Gene: STRADA Louise Daugherty classified STRADA as Green List (high evidence)
Intellectual disability Gene: STRADA Louise Daugherty commented on gene: STRADA
Intellectual disability Gene: RTN4IP1 Louise Daugherty classified RTN4IP1 as Green List (high evidence)
Intellectual disability Gene: SLC35A1 Louise Daugherty commented on gene: SLC35A1
Intellectual disability Gene: SLC35A1 Louise Daugherty classified SLC35A1 as Amber List (moderate evidence)
Familial Tumours Syndromes of the central & peripheral Nervous system Gene: PTEN Louise Daugherty classified PTEN as Green List (high evidence)
Familial Tumours Syndromes of the central & peripheral Nervous system Gene: PTEN Louise Daugherty Added gene to panel
Hereditary spastic paraplegia Gene: POLR3A Louise Daugherty classified POLR3A as Green List (high evidence)
Hereditary spastic paraplegia Gene: POLR3A Louise Daugherty Added gene to panel
Genetic Epilepsy Syndromes Gene: WASF1 Sarah Leigh commented on gene: WASF1
Intellectual disability Gene: WDR4 Louise Daugherty classified WDR4 as Amber List (moderate evidence)
Primary Microcephaly - Microcephalic Dwarfism Spectrum Gene: WDR4 Louise Daugherty classified WDR4 as Amber List (moderate evidence)
Genetic Epilepsy Syndromes Gene: WASF1 Sarah Leigh classified WASF1 as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: WASF1 Sarah Leigh Added gene to panel
Primary immunodeficiency disorders Gene: TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B
Intellectual disability Gene: CTGF Louise Daugherty commented on gene: CTGF
Intellectual disability Gene: CTGF Louise Daugherty Added gene to panel
Intellectual disability Gene: STX3 Louise Daugherty commented on gene: STX3
Intellectual disability Gene: STX3 Louise Daugherty Added gene to panel
Intellectual disability Gene: TSPAN8 Louise Daugherty commented on gene: TSPAN8
Intellectual disability Gene: TSPAN8 Louise Daugherty Added gene to panel
Intellectual disability Gene: ELK1 Louise Daugherty commented on gene: ELK1
Intellectual disability Gene: MACC1 Louise Daugherty commented on gene: MACC1
Intellectual disability Gene: MACC1 Louise Daugherty Added gene to panel
Intellectual disability Gene: GRIA2 Louise Daugherty classified GRIA2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: NCF4 Louise Daugherty edited their review of gene: NCF4
Primary immunodeficiency disorders Gene: NCF4 Louise Daugherty classified NCF4 as Green List (high evidence)
Primary immunodeficiency disorders Gene: NCF4 Zornitza Stark reviewed gene: NCF4
Primary immunodeficiency disorders Gene: FCGR3A Zornitza Stark reviewed gene: FCGR3A
Primary immunodeficiency disorders Louise Daugherty promoted panel to version 1.0
Primary immunodeficiency disorders Gene: STAT5B Louise Daugherty marked gene: STAT5B as ready
Primary immunodeficiency disorders Gene: STAT5B Louise Daugherty commented on gene: STAT5B
Primary immunodeficiency disorders Gene: FPR1 Louise Daugherty marked gene: FPR1 as ready
Primary immunodeficiency disorders Gene: FPR1 Louise Daugherty commented on gene: FPR1
Primary immunodeficiency disorders Gene: FCGR3A Louise Daugherty marked gene: FCGR3A as ready
Primary immunodeficiency disorders Gene: FCGR3A Louise Daugherty commented on gene: FCGR3A
Primary immunodeficiency disorders Gene: NOP10 Louise Daugherty marked gene: NOP10 as ready
Primary immunodeficiency disorders Gene: NOP10 Louise Daugherty commented on gene: NOP10
Primary immunodeficiency disorders Gene: CFB Louise Daugherty marked gene: CFB as ready
Primary immunodeficiency disorders Gene: CFB Louise Daugherty commented on gene: CFB
Primary immunodeficiency disorders Gene: LAT Louise Daugherty edited their review of gene: LAT
Primary immunodeficiency disorders Gene: LAT Louise Daugherty classified LAT as Green List (high evidence)
Primary immunodeficiency disorders Gene: RAC2 Louise Daugherty marked gene: RAC2 as ready
Primary immunodeficiency disorders Gene: RAC2 Louise Daugherty commented on gene: RAC2
Primary immunodeficiency disorders Gene: NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency disorders Gene: STIM1 Louise Daugherty commented on gene: STIM1
Primary immunodeficiency disorders Gene: ORAI1 Louise Daugherty commented on gene: ORAI1
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty marked gene: TRAC as ready
Primary immunodeficiency disorders Gene: CEBPE Louise Daugherty marked gene: CEBPE as ready
Primary immunodeficiency disorders Gene: CEBPE Louise Daugherty classified CEBPE as Green List (high evidence)
Primary immunodeficiency disorders Gene: CEBPE Zornitza Stark reviewed gene: CEBPE
Primary immunodeficiency disorders Gene: CD247 Zornitza Stark reviewed gene: CD247
Primary immunodeficiency disorders Gene: SEMA3E Louise Daugherty edited their review of gene: SEMA3E
Primary immunodeficiency disorders Gene: FCGR3B Louise Daugherty classified FCGR3B as Red List (low evidence)
Primary immunodeficiency disorders Gene: FCGR3B Louise Daugherty classified FCGR3B as Red List (low evidence)
Primary immunodeficiency disorders Gene: TERC Louise Daugherty commented on gene: TERC
Primary immunodeficiency disorders Gene: TBX1 Louise Daugherty marked gene: TBX1 as ready
Primary immunodeficiency disorders Gene: CR2 Louise Daugherty marked gene: CR2 as ready
Primary immunodeficiency disorders Gene: NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency disorders Gene: MBL2 Louise Daugherty marked gene: MBL2 as ready
Primary immunodeficiency disorders Gene: MBL2 Louise Daugherty commented on gene: MBL2
Primary immunodeficiency disorders Gene: MBL2 Louise Daugherty commented on gene: MBL2
Primary immunodeficiency disorders Gene: NCSTN Louise Daugherty marked gene: NCSTN as ready
Primary immunodeficiency disorders Gene: CFTR Louise Daugherty marked gene: CFTR as ready
Primary immunodeficiency disorders Gene: CFTR Louise Daugherty edited their review of gene: CFTR
Primary immunodeficiency disorders Gene: NCF4 Louise Daugherty marked gene: NCF4 as ready
Primary immunodeficiency disorders Gene: NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency disorders Gene: SH3BP2 Louise Daugherty classified SH3BP2 as Red List (low evidence)
Primary immunodeficiency disorders Gene: SH3BP2 Louise Daugherty classified SH3BP2 as Red List (low evidence)
Primary immunodeficiency disorders Gene: SH3BP2 Louise Daugherty edited their review of gene: SH3BP2
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty marked gene: DNASE1L3 as ready
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty classified DNASE1L3 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: ICOS Louise Daugherty marked gene: ICOS as ready
Primary immunodeficiency disorders Gene: NSMCE3 Louise Daugherty marked gene: NSMCE3 as ready
Primary immunodeficiency disorders Gene: NSMCE3 Louise Daugherty classified NSMCE3 as Green List (high evidence)
Primary immunodeficiency disorders Gene: NSMCE3 Louise Daugherty classified NSMCE3 as Green List (high evidence)
Primary immunodeficiency disorders Gene: PEPD Louise Daugherty marked gene: PEPD as ready
Primary immunodeficiency disorders Gene: PEPD Louise Daugherty classified PEPD as Green List (high evidence)
Primary immunodeficiency disorders Gene: NRAS Louise Daugherty marked gene: NRAS as ready
Primary immunodeficiency disorders Gene: PSENEN Louise Daugherty marked gene: PSENEN as ready
Primary immunodeficiency disorders Gene: PSENEN Louise Daugherty commented on gene: PSENEN
Primary immunodeficiency disorders Gene: PSEN1 Louise Daugherty marked gene: PSEN1 as ready
Primary immunodeficiency disorders Gene: PSEN1 Louise Daugherty commented on gene: PSEN1
Primary immunodeficiency disorders Gene: POLE2 Louise Daugherty marked gene: POLE2 as ready
Primary immunodeficiency disorders Gene: POLA1 Louise Daugherty marked gene: POLA1 as ready
Primary immunodeficiency disorders Gene: PLEKHM1 Louise Daugherty marked gene: PLEKHM1 as ready
Primary immunodeficiency disorders Gene: OSTM1 Louise Daugherty marked gene: OSTM1 as ready
Primary immunodeficiency disorders Gene: NLRP1 Louise Daugherty marked gene: NLRP1 as ready
Primary immunodeficiency disorders Gene: NCSTN Louise Daugherty classified NCSTN as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: NBAS Louise Daugherty marked gene: NBAS as ready
Primary immunodeficiency disorders Gene: MKL1 Louise Daugherty marked gene: MKL1 as ready
Primary immunodeficiency disorders Gene: KMT2D Louise Daugherty marked gene: KMT2D as ready
Primary immunodeficiency disorders Gene: KDM6A Louise Daugherty marked gene: KDM6A as ready
Primary immunodeficiency disorders Gene: JAK1 Louise Daugherty marked gene: JAK1 as ready
Primary immunodeficiency disorders Gene: IRF2BP2 Louise Daugherty marked gene: IRF2BP2 as ready
Primary immunodeficiency disorders Gene: IRAK1 Louise Daugherty marked gene: IRAK1 as ready
Primary immunodeficiency disorders Gene: IFNAR2 Louise Daugherty marked gene: IFNAR2 as ready
Primary immunodeficiency disorders Gene: HYOU1 Louise Daugherty marked gene: HYOU1 as ready
Primary immunodeficiency disorders Gene: HPS6 Louise Daugherty marked gene: HPS6 as ready
Primary immunodeficiency disorders Gene: HPS4 Louise Daugherty marked gene: HPS4 as ready
Primary immunodeficiency disorders Gene: HPS1 Louise Daugherty marked gene: HPS1 as ready
Primary immunodeficiency disorders Gene: HMOX1 Louise Daugherty marked gene: HMOX1 as ready
Primary immunodeficiency disorders Gene: GUCY2C Louise Daugherty marked gene: GUCY2C as ready
Primary immunodeficiency disorders Gene: STN1 Louise Daugherty commented on gene: STN1
Primary immunodeficiency disorders Gene: SRP54 Louise Daugherty commented on gene: SRP54
Primary immunodeficiency disorders Gene: SNX10 Louise Daugherty commented on gene: SNX10
Primary immunodeficiency disorders Gene: SMARCD2 Louise Daugherty commented on gene: SMARCD2
Primary immunodeficiency disorders Gene: SAMD9L Louise Daugherty commented on gene: SAMD9L
Primary immunodeficiency disorders Gene: RNU4ATAC Louise Daugherty commented on gene: RNU4ATAC
Primary immunodeficiency disorders Gene: RASGRP1 Louise Daugherty commented on gene: RASGRP1
Primary immunodeficiency disorders Gene: RANBP2 Louise Daugherty commented on gene: RANBP2
Primary immunodeficiency disorders Gene: PTEN Louise Daugherty commented on gene: PTEN
Primary immunodeficiency disorders Gene: PLEKHM1 Louise Daugherty commented on gene: PLEKHM1
Primary immunodeficiency disorders Gene: PEPD Louise Daugherty commented on gene: PEPD
Primary immunodeficiency disorders Gene: OSTM1 Louise Daugherty commented on gene: OSTM1
Primary immunodeficiency disorders Gene: NSMCE3 Louise Daugherty commented on gene: NSMCE3
Primary immunodeficiency disorders Gene: NLRP1 Louise Daugherty commented on gene: NLRP1
Primary immunodeficiency disorders Gene: NCSTN Louise Daugherty commented on gene: NCSTN
Primary immunodeficiency disorders Gene: NBAS Louise Daugherty commented on gene: NBAS
Primary immunodeficiency disorders Gene: KMT2D Louise Daugherty commented on gene: KMT2D
Primary immunodeficiency disorders Gene: KDM6A Louise Daugherty commented on gene: KDM6A
Primary immunodeficiency disorders Gene: IRF2BP2 Louise Daugherty commented on gene: IRF2BP2
Primary immunodeficiency disorders Gene: IRAK1 Louise Daugherty commented on gene: IRAK1
Primary immunodeficiency disorders Gene: IFNAR2 Louise Daugherty commented on gene: IFNAR2
Primary immunodeficiency disorders Gene: HYOU1 Louise Daugherty commented on gene: HYOU1
Primary immunodeficiency disorders Gene: TCIRG1 Louise Daugherty commented on gene: TCIRG1
Primary immunodeficiency disorders Gene: TFRC Louise Daugherty commented on gene: TFRC
Primary immunodeficiency disorders Gene: TNFRSF11A Louise Daugherty commented on gene: TNFRSF11A
Primary immunodeficiency disorders Gene: TNFSF11 Louise Daugherty commented on gene: TNFSF11
Primary immunodeficiency disorders Gene: USP18 Louise Daugherty commented on gene: USP18
Primary immunodeficiency disorders Gene: WDR1 Louise Daugherty commented on gene: WDR1
Primary immunodeficiency disorders Gene: WRAP53 Louise Daugherty commented on gene: WRAP53
Primary immunodeficiency disorders Gene: HMOX1 Louise Daugherty commented on gene: HMOX1
Primary immunodeficiency disorders Gene: ATP6AP1 Louise Daugherty edited their review of gene: ATP6AP1
Primary immunodeficiency disorders Gene: ATP6AP1 Louise Daugherty commented on gene: ATP6AP1
Primary immunodeficiency disorders Gene: CFTR Louise Daugherty commented on gene: CFTR
Primary immunodeficiency disorders Gene: CLCN7 Louise Daugherty commented on gene: CLCN7
Primary immunodeficiency disorders Gene: CSF2RB Louise Daugherty commented on gene: CSF2RB
Primary immunodeficiency disorders Gene: IRF3 Louise Daugherty reviewed gene: IRF3
Primary immunodeficiency disorders Gene: FAAP24 Louise Daugherty marked gene: FAAP24 as ready
Primary immunodeficiency disorders Gene: FAAP24 Louise Daugherty commented on gene: FAAP24
Primary immunodeficiency disorders Gene: ERCC6L2 Louise Daugherty marked gene: ERCC6L2 as ready
Primary immunodeficiency disorders Gene: ERCC6L2 Louise Daugherty classified ERCC6L2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: ERCC6L2 Louise Daugherty classified ERCC6L2 as Amber List (moderate evidence)
Cytopaenias and congenital anaemias Gene: ERCC6L2 Louise Daugherty classified ERCC6L2 as Green List (high evidence)
Cytopaenias and congenital anaemias Gene: ERCC6L2 Louise Daugherty reviewed gene: ERCC6L2
Primary immunodeficiency disorders Gene: ERCC6L2 Louise Daugherty commented on gene: ERCC6L2
Primary immunodeficiency disorders Gene: CFTR Helen Brittain classified CFTR as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: CFTR Helen Brittain reviewed gene: CFTR
Primary immunodeficiency disorders Gene: DNASE2 Louise Daugherty marked gene: DNASE2 as ready
Primary immunodeficiency disorders Gene: DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: DNASE2 Louise Daugherty classified DNASE2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: DNASE2 Louise Daugherty commented on gene: DNASE2
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty classified DNASE1L3 as Green List (high evidence)
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty commented on gene: DNASE1L3
Primary immunodeficiency disorders Gene: SAMD9 Louise Daugherty marked gene: SAMD9 as ready
Primary immunodeficiency disorders Gene: SAMD9 Louise Daugherty classified SAMD9 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: SAMD9 Louise Daugherty commented on gene: SAMD9
Primary immunodeficiency disorders Gene: DNAJC21 Louise Daugherty marked gene: DNAJC21 as ready
Cytopaenias and congenital anaemias Gene: DNAJC21 Louise Daugherty classified DNAJC21 as Green List (high evidence)
Primary immunodeficiency disorders Gene: DNAJC21 Louise Daugherty classified DNAJC21 as Green List (high evidence)
Primary immunodeficiency disorders Gene: DNAJC21 Louise Daugherty commented on gene: DNAJC21
Primary immunodeficiency disorders Gene: IRF3 Louise Daugherty marked gene: IRF3 as ready
Primary immunodeficiency disorders Gene: CTC1 Louise Daugherty marked gene: CTC1 as ready
Primary immunodeficiency disorders Gene: CTC1 Louise Daugherty commented on gene: CTC1
Primary immunodeficiency disorders Gene: IRF3 Louise Daugherty classified IRF3 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: CSF2RB Louise Daugherty marked gene: CSF2RB as ready
Primary immunodeficiency disorders Gene: CSF2RB Louise Daugherty classified CSF2RB as Green List (high evidence)
Primary immunodeficiency disorders Gene: CLCN7 Louise Daugherty marked gene: CLCN7 as ready
Primary immunodeficiency disorders Gene: ATP6AP1 Louise Daugherty marked gene: ATP6AP1 as ready
Primary immunodeficiency disorders Gene: ATP6AP1 Louise Daugherty classified ATP6AP1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: ATP6AP1 Louise Daugherty edited their review of gene: ATP6AP1
Primary immunodeficiency disorders Gene: ATP6AP1 Louise Daugherty commented on gene: ATP6AP1
Primary immunodeficiency disorders Gene: BCL11B Louise Daugherty marked gene: BCL11B as ready
Primary immunodeficiency disorders Gene: BCL11B Louise Daugherty commented on gene: BCL11B
Primary immunodeficiency disorders Gene: BACH2 Louise Daugherty marked gene: BACH2 as ready
Primary immunodeficiency disorders Gene: BACH2 Louise Daugherty classified BACH2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: UNC93B1 Louise Daugherty marked gene: UNC93B1 as ready
Primary immunodeficiency disorders Gene: TYK2 Louise Daugherty marked gene: TYK2 as ready
Primary immunodeficiency disorders Gene: WIPF1 Louise Daugherty marked gene: WIPF1 as ready
Cytopaenias and congenital anaemias Gene: WIPF1 Louise Daugherty classified WIPF1 as Green List (high evidence)
Cytopaenias and congenital anaemias Gene: WIPF1 Louise Daugherty commented on gene: WIPF1
Cytopaenias and congenital anaemias Gene: WIPF1 Louise Daugherty edited their review of gene: WIPF1
Primary immunodeficiency disorders Gene: WIPF1 Louise Daugherty commented on gene: WIPF1
Proteinuric renal disease Gene: OSGEP Helen Brittain marked gene: OSGEP as ready
Proteinuric renal disease Gene: OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Proteinuric renal disease Gene: OSGEP Helen Brittain Added gene to panel
Malformations of cortical development Gene: OSGEP Helen Brittain marked gene: OSGEP as ready
Malformations of cortical development Gene: OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Malformations of cortical development Gene: OSGEP Helen Brittain Added gene to panel
Primary immunodeficiency disorders Gene: WIPF1 Louise Daugherty classified WIPF1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: WIPF1 Louise Daugherty edited their review of gene: WIPF1
Intellectual disability Gene: OSGEP Helen Brittain marked gene: OSGEP as ready
Intellectual disability Gene: OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability Gene: OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability Gene: OSGEP Helen Brittain classified OSGEP as Green List (high evidence)
Intellectual disability Gene: OSGEP Helen Brittain Added gene to panel
Primary immunodeficiency disorders Gene: UNC119 Louise Daugherty marked gene: UNC119 as ready
Primary immunodeficiency disorders Gene: UNC119 Louise Daugherty classified UNC119 as Red List (low evidence)
Charcot-Marie-Tooth disease Gene: MME Helen Brittain marked gene: MME as ready
Charcot-Marie-Tooth disease Gene: MME Helen Brittain classified MME as Green List (high evidence)
Intellectual disability Gene: ITCH Louise Daugherty classified ITCH as No list
Genetic Epilepsy Syndromes Gene: ATP5A1 Arianna Tucci reviewed gene: ATP5A1
Genetic Epilepsy Syndromes Gene: ASPA Arianna Tucci reviewed gene: ASPA
Genetic Epilepsy Syndromes Gene: ARV1 Arianna Tucci reviewed gene: ARV1
Primary immunodeficiency disorders Gene: PSENEN Eleanor Williams classified PSENEN as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: TNFRSF13B Eleanor Williams classified TNFRSF13B as Red List (low evidence)
Primary immunodeficiency disorders Gene: POLA1 Eleanor Williams classified POLA1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: POLA1 Eleanor Williams commented on gene: POLA1
Primary immunodeficiency disorders Gene: POLE2 Eleanor Williams commented on gene: POLE2
Primary immunodeficiency disorders Gene: PSEN1 Eleanor Williams commented on gene: PSEN1
Primary immunodeficiency disorders Gene: PSENEN Eleanor Williams commented on gene: PSENEN
Primary immunodeficiency disorders Gene: PSENEN Eleanor Williams commented on gene: PSENEN
Primary immunodeficiency disorders Gene: TRAF3IP2 Louise Daugherty marked gene: TRAF3IP2 as ready
Primary immunodeficiency disorders Gene: TRAF3IP2 Louise Daugherty classified TRAF3IP2 as Red List (low evidence)
Primary immunodeficiency disorders Gene: TRAF3 Louise Daugherty marked gene: TRAF3 as ready
Primary immunodeficiency disorders Gene: TRAF3 Louise Daugherty classified TRAF3 as Red List (low evidence)
Primary immunodeficiency disorders Gene: ACD Louise Daugherty commented on gene: ACD
Primary immunodeficiency disorders Gene: TNFSF12 Louise Daugherty marked gene: TNFSF12 as ready
Primary immunodeficiency disorders Gene: TNFSF12 Louise Daugherty classified TNFSF12 as Red List (low evidence)
Primary immunodeficiency disorders Gene: TNFRSF4 Louise Daugherty marked gene: TNFRSF4 as ready
Genetic Epilepsy Syndromes Gene: ARID1B Arianna Tucci reviewed gene: ARID1B
Genetic Epilepsy Syndromes Gene: ARFGEF2 Arianna Tucci reviewed gene: ARFGEF2
Primary immunodeficiency disorders Gene: TNFRSF4 Louise Daugherty classified TNFRSF4 as Red List (low evidence)
Genetic Epilepsy Syndromes Gene: AP3B2 Arianna Tucci reviewed gene: AP3B2
Primary immunodeficiency disorders Gene: TNFRSF13C Louise Daugherty marked gene: TNFRSF13C as ready
Primary immunodeficiency disorders Gene: TNFRSF13C Louise Daugherty commented on gene: TNFRSF13C
Genetic Epilepsy Syndromes Gene: AMT Arianna Tucci reviewed gene: AMT
Genetic Epilepsy Syndromes Gene: AMPD2 Arianna Tucci reviewed gene: AMPD2
Primary immunodeficiency disorders Gene: TMEM173 Louise Daugherty marked gene: TMEM173 as ready
Primary immunodeficiency disorders Gene: TMEM173 Louise Daugherty classified TMEM173 as Green List (high evidence)
Primary immunodeficiency disorders Gene: TMEM173 Louise Daugherty edited their review of gene: TMEM173
Primary immunodeficiency disorders Gene: TMEM173 Louise Daugherty edited their review of gene: TMEM173
Primary immunodeficiency disorders Gene: TINF2 Louise Daugherty marked gene: TINF2 as ready
Primary immunodeficiency disorders Gene: TINF2 Louise Daugherty commented on gene: TINF2
Primary immunodeficiency disorders Gene: THBD Louise Daugherty edited their review of gene: THBD
Primary immunodeficiency disorders Gene: THBD Louise Daugherty marked gene: THBD as ready
Primary immunodeficiency disorders Gene: THBD Louise Daugherty classified THBD as Red List (low evidence)
Primary immunodeficiency disorders Gene: THBD Louise Daugherty commented on gene: THBD
Atypical haemolytic uraemic syndrome Gene: THBD Louise Daugherty reviewed gene: THBD
Primary immunodeficiency disorders Gene: TERT Louise Daugherty marked gene: TERT as ready
Primary immunodeficiency disorders Gene: TERC Louise Daugherty marked gene: TERC as ready
Primary immunodeficiency disorders Gene: TERC Louise Daugherty commented on gene: TERC
Primary immunodeficiency disorders Gene: TCF7L1 Louise Daugherty edited their review of gene: TCF7L1
Primary immunodeficiency disorders Gene: TCF7L1 Louise Daugherty classified TCF7L1 as No list
Primary immunodeficiency disorders Gene: TCF7L1 Louise Daugherty commented on gene: TCF7L1
Primary immunodeficiency disorders Gene: RNF31 Louise Daugherty marked gene: RNF31 as ready
Genetic Epilepsy Syndromes Gene: ALPL Arianna Tucci reviewed gene: ALPL
Primary immunodeficiency disorders Gene: TAPBP Louise Daugherty marked gene: TAPBP as ready
Primary immunodeficiency disorders Gene: TAPBP Louise Daugherty commented on gene: TAPBP
Genetic Epilepsy Syndromes Gene: ALG9 Arianna Tucci reviewed gene: ALG9
Primary immunodeficiency disorders Gene: STAT5A Louise Daugherty marked gene: STAT5A as ready
Primary immunodeficiency disorders Gene: STAT5A Louise Daugherty classified STAT5A as Red List (low evidence)
Primary immunodeficiency disorders Gene: STAT5A Louise Daugherty edited their review of gene: STAT5A
Primary immunodeficiency disorders Gene: SH3BP2 Louise Daugherty marked gene: SH3BP2 as ready
Primary immunodeficiency disorders Gene: SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency disorders Gene: SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency disorders Gene: RNF31 Louise Daugherty classified RNF31 as Red List (low evidence)
Primary immunodeficiency disorders Gene: RNF31 Louise Daugherty commented on gene: RNF31
Primary immunodeficiency disorders Gene: RHOH Louise Daugherty marked gene: RHOH as ready
Primary immunodeficiency disorders Gene: RHOH Louise Daugherty commented on gene: RHOH
Primary immunodeficiency disorders Gene: RET Louise Daugherty marked gene: RET as ready
Primary immunodeficiency disorders Gene: RET Louise Daugherty classified RET as Red List (low evidence)
Primary immunodeficiency disorders Gene: RBCK1 Louise Daugherty edited their review of gene: RBCK1
Primary immunodeficiency disorders Gene: RBCK1 Louise Daugherty marked gene: RBCK1 as ready
Primary immunodeficiency disorders Gene: RBCK1 Louise Daugherty classified RBCK1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: RBCK1 Louise Daugherty commented on gene: RBCK1
Primary immunodeficiency disorders Gene: PSMB9 Louise Daugherty marked gene: PSMB9 as ready
Primary immunodeficiency disorders Gene: PSMB4 Louise Daugherty marked gene: PSMB4 as ready
Primary immunodeficiency disorders Gene: PSMB9 Louise Daugherty classified PSMB9 as Red List (low evidence)
Hereditary ataxia Gene: VPS13D Arianna Tucci classified VPS13D as Green List (high evidence)
Hereditary ataxia Gene: VPS13D Arianna Tucci Added gene to panel
Arthrogryposis Gene: SMPD4 Arianna Tucci Added gene to panel
Intellectual disability Gene: SMPD4 Arianna Tucci Added gene to panel
Intellectual disability Gene: SMPD4 Arianna Tucci Added gene to panel
Primary immunodeficiency disorders Gene: PSMB4 Louise Daugherty classified PSMB4 as Red List (low evidence)
Cerebellar hypoplasia Gene: SMPD4 Arianna Tucci Added gene to panel
Hereditary spastic paraplegia Gene: CAPN1 Arianna Tucci marked gene: CAPN1 as ready
Hereditary spastic paraplegia Gene: CAPN1 Arianna Tucci classified CAPN1 as Green List (high evidence)
Hereditary spastic paraplegia Gene: CAPN1 Arianna Tucci edited their review of gene: CAPN1
Hereditary spastic paraplegia Gene: CAPN1 Arianna Tucci Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG9 Arianna Tucci reviewed gene: ALG9
Intellectual disability Gene: WASF1 Louise Daugherty classified WASF1 as Green List (high evidence)
Intellectual disability Gene: WASF1 Louise Daugherty Added gene to panel
Epileptic encephalopathy Gene: WASF1 Louise Daugherty classified WASF1 as Green List (high evidence)
Epileptic encephalopathy Gene: WASF1 Louise Daugherty Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG8 Arianna Tucci reviewed gene: ALG8
Congenital disorders of glycosylation Gene: ALG3 Arianna Tucci reviewed gene: ALG3
Genetic Epilepsy Syndromes Gene: ALG6 Arianna Tucci reviewed gene: ALG6
Genetic Epilepsy Syndromes Gene: ALG3 Arianna Tucci reviewed gene: ALG3
Genetic Epilepsy Syndromes Gene: ALG2 Arianna Tucci reviewed gene: ALG2
Genetic Epilepsy Syndromes Gene: ALG12 Arianna Tucci reviewed gene: ALG12
Genetic Epilepsy Syndromes Gene: ALG1 Arianna Tucci reviewed gene: ALG1
Genetic Epilepsy Syndromes Gene: ALDH5A1 Arianna Tucci reviewed gene: ALDH5A1
Genetic Epilepsy Syndromes Gene: AKT3 Arianna Tucci reviewed gene: AKT3
Genetic Epilepsy Syndromes Gene: AKT1 Arianna Tucci reviewed gene: AKT1
Genetic Epilepsy Syndromes Gene: AIMP1 Arianna Tucci reviewed gene: AIMP1
Primary immunodeficiency disorders Gene: PSMA3 Louise Daugherty marked gene: PSMA3 as ready
Primary immunodeficiency disorders Gene: PSMA3 Louise Daugherty classified PSMA3 as Red List (low evidence)
Primary immunodeficiency disorders Gene: POLE Louise Daugherty marked gene: POLE as ready
Primary immunodeficiency disorders Gene: POLE Louise Daugherty commented on gene: POLE
Primary immunodeficiency disorders Gene: PMS2 Louise Daugherty marked gene: PMS2 as ready
Primary immunodeficiency disorders Gene: PMS2 Louise Daugherty commented on gene: PMS2
Primary immunodeficiency disorders Gene: LAMTOR2 Louise Daugherty marked gene: LAMTOR2 as ready
Primary immunodeficiency disorders Gene: NOP10 Louise Daugherty commented on gene: NOP10
Primary immunodeficiency disorders Gene: NHP2 Louise Daugherty marked gene: NHP2 as ready
Primary immunodeficiency disorders Gene: NHP2 Louise Daugherty edited their review of gene: NHP2
Primary immunodeficiency disorders Gene: NHP2 Louise Daugherty classified NHP2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: NFKBID Louise Daugherty marked gene: NFKBID as ready
Primary immunodeficiency disorders Gene: NFKBID Louise Daugherty classified NFKBID as Red List (low evidence)
Primary immunodeficiency disorders Gene: NFAT5 Louise Daugherty marked gene: NFAT5 as ready
Primary immunodeficiency disorders Gene: NFAT5 Louise Daugherty classified NFAT5 as Red List (low evidence)
Primary immunodeficiency disorders Gene: NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency disorders Gene: NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency disorders Gene: MS4A1 Louise Daugherty marked gene: MS4A1 as ready
Primary immunodeficiency disorders Gene: MS4A1 Louise Daugherty classified MS4A1 as Red List (low evidence)
Primary immunodeficiency disorders Gene: MRE11 Louise Daugherty marked gene: MRE11 as ready
Primary immunodeficiency disorders Gene: MRE11 Louise Daugherty classified MRE11 as Red List (low evidence)
Primary immunodeficiency disorders Gene: MPO Louise Daugherty marked gene: MPO as ready
Primary immunodeficiency disorders Gene: MPO Louise Daugherty classified MPO as Red List (low evidence)
Primary immunodeficiency disorders Gene: MPI Louise Daugherty marked gene: MPI as ready
Primary immunodeficiency disorders Gene: MPI Louise Daugherty classified MPI as Red List (low evidence)
Primary immunodeficiency disorders Gene: MASP2 Louise Daugherty marked gene: MASP2 as ready
Primary immunodeficiency disorders Gene: MASP2 Louise Daugherty classified MASP2 as Red List (low evidence)
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty edited their review of gene: TRAC
Primary immunodeficiency disorders Gene: LIG1 Louise Daugherty marked gene: LIG1 as ready
Primary immunodeficiency disorders Gene: LIG1 Louise Daugherty edited their review of gene: LIG1
Primary immunodeficiency disorders Gene: LIG1 Louise Daugherty classified LIG1 as Red List (low evidence)
Primary immunodeficiency disorders Gene: IFIH1 Louise Daugherty marked gene: IFIH1 as ready
Primary immunodeficiency disorders Gene: IFIH1 Louise Daugherty edited their review of gene: IFIH1
Primary immunodeficiency disorders Gene: IFIH1 Louise Daugherty classified IFIH1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IFIH1 Louise Daugherty commented on gene: IFIH1
Primary immunodeficiency disorders Gene: ICOSLG Louise Daugherty classified ICOSLG as Red List (low evidence)
Primary immunodeficiency disorders Gene: GTF2H5 Louise Daugherty marked gene: GTF2H5 as ready
Primary immunodeficiency disorders Gene: GTF2H5 Louise Daugherty classified GTF2H5 as Red List (low evidence)
Primary immunodeficiency disorders Gene: FCN3 Louise Daugherty marked gene: FCN3 as ready
Primary immunodeficiency disorders Gene: FCN3 Louise Daugherty classified FCN3 as Red List (low evidence)
Primary immunodeficiency disorders Gene: FCGR3A Louise Daugherty commented on gene: FCGR3A
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty classified TRAC as Green List (high evidence)
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty classified TRAC as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty edited their review of gene: TRAC
Primary immunodeficiency disorders Gene: TMEM173 Eleanor Williams commented on gene: TMEM173
Primary immunodeficiency disorders Gene: FBF1 Louise Daugherty marked gene: FBF1 as ready
Primary immunodeficiency disorders Gene: FBF1 Louise Daugherty classified FBF1 as Red List (low evidence)
Primary immunodeficiency disorders Gene: TNFRSF13B Eleanor Williams commented on gene: TNFRSF13B
Primary immunodeficiency disorders Gene: FAT4 Louise Daugherty marked gene: FAT4 as ready
Primary immunodeficiency disorders Gene: FAT4 Louise Daugherty classified FAT4 as Green List (high evidence)
Primary immunodeficiency disorders Gene: TNFRSF13B Eleanor Williams commented on gene: TNFRSF13B
Primary immunodeficiency disorders Gene: FAT4 Louise Daugherty commented on gene: FAT4
Primary immunodeficiency disorders Gene: F12 Louise Daugherty marked gene: F12 as ready
Primary immunodeficiency disorders Gene: F12 Louise Daugherty edited their review of gene: F12
Primary immunodeficiency disorders Gene: F12 Louise Daugherty commented on gene: F12
Primary immunodeficiency disorders Gene: F12 Louise Daugherty classified F12 as Green List (high evidence)
Primary immunodeficiency disorders Gene: F12 Louise Daugherty commented on gene: F12
Primary immunodeficiency disorders Gene: ERCC3 Louise Daugherty marked gene: ERCC3 as ready
Primary immunodeficiency disorders Gene: ERCC3 Louise Daugherty classified ERCC3 as Red List (low evidence)
Primary immunodeficiency disorders Gene: ERCC2 Louise Daugherty marked gene: ERCC2 as ready
Primary immunodeficiency disorders Gene: ERCC2 Louise Daugherty classified ERCC2 as Red List (low evidence)
Primary immunodeficiency disorders Gene: ERCC2 Louise Daugherty commented on gene: ERCC2
Primary immunodeficiency disorders Gene: EPCAM Louise Daugherty marked gene: EPCAM as ready
Primary immunodeficiency disorders Gene: EPCAM Louise Daugherty classified EPCAM as Red List (low evidence)
Primary immunodeficiency disorders Gene: DKC1 Louise Daugherty marked gene: DKC1 as ready
Primary immunodeficiency disorders Gene: DKC1 Louise Daugherty classified DKC1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: DKC1 Louise Daugherty edited their review of gene: DKC1
Primary immunodeficiency disorders Gene: CTSC Louise Daugherty marked gene: CTSC as ready
Primary immunodeficiency disorders Gene: CTSC Louise Daugherty classified CTSC as Green List (high evidence)
Primary immunodeficiency disorders Gene: CTSC Louise Daugherty edited their review of gene: CTSC
Primary immunodeficiency disorders Gene: CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency disorders Gene: CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency disorders Gene: CFHR4 Louise Daugherty commented on gene: CFHR4
Primary immunodeficiency disorders Gene: CFHR3 Louise Daugherty commented on gene: CFHR3
Primary immunodeficiency disorders Gene: CFHR1 Louise Daugherty commented on gene: CFHR1
Primary immunodeficiency disorders Gene: CFB Louise Daugherty classified CFB as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: AP1S3 Louise Daugherty marked gene: AP1S3 as ready
Primary immunodeficiency disorders Gene: AP1S3 Louise Daugherty commented on gene: AP1S3
Primary immunodeficiency disorders Gene: ITCH Louise Daugherty commented on gene: ITCH
Primary immunodeficiency disorders Gene: ORAI1 Louise Daugherty marked gene: ORAI1 as ready
Primary immunodeficiency disorders Gene: STIM1 Louise Daugherty marked gene: STIM1 as ready
Primary immunodeficiency disorders Gene: LAMTOR2 Louise Daugherty commented on gene: LAMTOR2
Primary immunodeficiency disorders Gene: IL17F Louise Daugherty classified IL17F as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: IL17F Louise Daugherty edited their review of gene: IL17F
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty commented on gene: TRAC
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty commented on gene: TRAC
Primary immunodeficiency disorders Gene: TPP2 Louise Daugherty commented on gene: TPP2
Primary immunodeficiency disorders Gene: ZAP70 Louise Daugherty commented on gene: ZAP70
Primary immunodeficiency disorders Gene: CD79B Louise Daugherty commented on gene: CD79B
Primary immunodeficiency disorders Gene: WAS Louise Daugherty commented on gene: WAS
Primary immunodeficiency disorders Gene: STAT3 Louise Daugherty commented on gene: STAT3
Primary immunodeficiency disorders Gene: STAT1 Louise Daugherty commented on gene: STAT1
Primary immunodeficiency disorders Gene: PIK3R1 Louise Daugherty commented on gene: PIK3R1
Primary immunodeficiency disorders Gene: NLRP3 Louise Daugherty edited their review of gene: NLRP3
Primary immunodeficiency disorders Gene: JAK1 Louise Daugherty commented on gene: JAK1
Primary immunodeficiency disorders Gene: IRF8 Louise Daugherty commented on gene: IRF8
Primary immunodeficiency disorders Gene: IFIH1 Louise Daugherty commented on gene: IFIH1
Primary immunodeficiency disorders Gene: CYBB Louise Daugherty commented on gene: CYBB
Primary immunodeficiency disorders Gene: CFB Louise Daugherty commented on gene: CFB
Primary immunodeficiency disorders Gene: CARD11 Louise Daugherty commented on gene: CARD11
Primary immunodeficiency disorders Gene: C3 Louise Daugherty commented on gene: C3
Primary immunodeficiency disorders Gene: XIAP Louise Daugherty edited their review of gene: XIAP
Primary immunodeficiency disorders Gene: WRAP53 Louise Daugherty reviewed gene: WRAP53
Primary immunodeficiency disorders Gene: WIPF1 Louise Daugherty commented on gene: WIPF1
Primary immunodeficiency disorders Gene: WDR1 Louise Daugherty reviewed gene: WDR1
Primary immunodeficiency disorders Gene: VPS45 Louise Daugherty commented on gene: VPS45
Primary immunodeficiency disorders Gene: VPS13B Louise Daugherty commented on gene: VPS13B
Primary immunodeficiency disorders Gene: USP18 Louise Daugherty reviewed gene: USP18
Primary immunodeficiency disorders Gene: USB1 Louise Daugherty edited their review of gene: USB1
Primary immunodeficiency disorders Gene: UNG Louise Daugherty commented on gene: UNG
Primary immunodeficiency disorders Gene: UNC93B1 Louise Daugherty edited their review of gene: UNC93B1
Primary immunodeficiency disorders Gene: UNC13D Louise Daugherty commented on gene: UNC13D
Primary immunodeficiency disorders Gene: TYK2 Louise Daugherty edited their review of gene: TYK2
Primary immunodeficiency disorders Gene: TTC7A Louise Daugherty commented on gene: TTC7A
Primary immunodeficiency disorders Gene: TTC37 Louise Daugherty commented on gene: TTC37
Primary immunodeficiency disorders Gene: TRNT1 Louise Daugherty commented on gene: TRNT1
Primary immunodeficiency disorders Gene: TREX1 Louise Daugherty commented on gene: TREX1
Primary immunodeficiency disorders Gene: TRAF3IP2 Louise Daugherty commented on gene: TRAF3IP2
Primary immunodeficiency disorders Gene: TRAF3 Louise Daugherty commented on gene: TRAF3
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty edited their review of gene: TRAC
Primary immunodeficiency disorders Gene: TPP2 Louise Daugherty edited their review of gene: TPP2
Primary immunodeficiency disorders Gene: TPP1 Louise Daugherty edited their review of gene: TPP1
Primary immunodeficiency disorders Gene: TNFSF12 Louise Daugherty commented on gene: TNFSF12
Primary immunodeficiency disorders Gene: TNFSF11 Louise Daugherty reviewed gene: TNFSF11
Primary immunodeficiency disorders Gene: FAS Louise Daugherty commented on gene: FAS
Primary immunodeficiency disorders Gene: TNFRSF4 Louise Daugherty commented on gene: TNFRSF4
Primary immunodeficiency disorders Gene: TNFRSF1A Louise Daugherty edited their review of gene: TNFRSF1A
Primary immunodeficiency disorders Gene: TNFRSF13C Louise Daugherty commented on gene: TNFRSF13C
Primary immunodeficiency disorders Gene: TNFRSF13B Louise Daugherty commented on gene: TNFRSF13B
Primary immunodeficiency disorders Gene: TNFRSF11A Louise Daugherty reviewed gene: TNFRSF11A
Primary immunodeficiency disorders Gene: TNFAIP3 Louise Daugherty edited their review of gene: TNFAIP3
Primary immunodeficiency disorders Gene: TMEM173 Louise Daugherty commented on gene: TMEM173
Primary immunodeficiency disorders Gene: TMC8 Louise Daugherty edited their review of gene: TMC8
Primary immunodeficiency disorders Gene: TMC6 Louise Daugherty edited their review of gene: TMC6
Primary immunodeficiency disorders Gene: TLR3 Louise Daugherty edited their review of gene: TLR3
Primary immunodeficiency disorders Gene: TIRAP Louise Daugherty commented on gene: TIRAP
Primary immunodeficiency disorders Gene: TINF2 Louise Daugherty commented on gene: TINF2
Primary immunodeficiency disorders Gene: TICAM1 Louise Daugherty edited their review of gene: TICAM1
Primary immunodeficiency disorders Gene: THBD Louise Daugherty commented on gene: THBD
Primary immunodeficiency disorders Gene: TFRC Louise Daugherty reviewed gene: TFRC
Primary immunodeficiency disorders Gene: TERT Louise Daugherty commented on gene: TERT
Primary immunodeficiency disorders Gene: TERC Louise Daugherty commented on gene: TERC
Primary immunodeficiency disorders Gene: TCN2 Louise Daugherty commented on gene: TCN2
Primary immunodeficiency disorders Gene: TCIRG1 Louise Daugherty reviewed gene: TCIRG1
Primary immunodeficiency disorders Gene: TCF3 Louise Daugherty edited their review of gene: TCF3
Primary immunodeficiency disorders Gene: TBX1 Louise Daugherty commented on gene: TBX1
Primary immunodeficiency disorders Gene: TBK1 Louise Daugherty edited their review of gene: TBK1
Primary immunodeficiency disorders Gene: TAZ Louise Daugherty commented on gene: TAZ
Primary immunodeficiency disorders Gene: TAPBP Louise Daugherty commented on gene: TAPBP
Primary immunodeficiency disorders Gene: TAP2 Louise Daugherty edited their review of gene: TAP2
Primary immunodeficiency disorders Gene: TAP1 Louise Daugherty edited their review of gene: TAP1
Primary immunodeficiency disorders Gene: STXBP2 Louise Daugherty commented on gene: STXBP2
Primary immunodeficiency disorders Gene: STX11 Louise Daugherty commented on gene: STX11
Primary immunodeficiency disorders Gene: STN1 Louise Daugherty reviewed gene: STN1
Primary immunodeficiency disorders Gene: STK4 Louise Daugherty commented on gene: STK4
Primary immunodeficiency disorders Gene: STIM1 Louise Daugherty edited their review of gene: STIM1
Primary immunodeficiency disorders Gene: STAT5B Louise Daugherty edited their review of gene: STAT5B
Primary immunodeficiency disorders Gene: STAT2 Louise Daugherty edited their review of gene: STAT2
Primary immunodeficiency disorders Gene: SRP54 Louise Daugherty reviewed gene: SRP54
Primary immunodeficiency disorders Gene: SPINK5 Louise Daugherty edited their review of gene: SPINK5
Primary immunodeficiency disorders Gene: SP110 Louise Daugherty edited their review of gene: SP110
Primary immunodeficiency disorders Gene: SNX10 Louise Daugherty reviewed gene: SNX10
Primary immunodeficiency disorders Gene: SMARCD2 Louise Daugherty reviewed gene: SMARCD2
Primary immunodeficiency disorders Gene: SMARCAL1 Louise Daugherty edited their review of gene: SMARCAL1
Primary immunodeficiency disorders Gene: SLC46A1 Louise Daugherty edited their review of gene: SLC46A1
Primary immunodeficiency disorders Gene: SLC35C1 Louise Daugherty edited their review of gene: SLC35C1
Primary immunodeficiency disorders Gene: SLC29A3 Louise Daugherty edited their review of gene: SLC29A3
Primary immunodeficiency disorders Gene: SH3BP2 Louise Daugherty commented on gene: SH3BP2
Primary immunodeficiency disorders Gene: SH2D1A Louise Daugherty edited their review of gene: SH2D1A
Primary immunodeficiency disorders Gene: SERPING1 Louise Daugherty edited their review of gene: SERPING1
Primary immunodeficiency disorders Gene: SEMA3E Louise Daugherty commented on gene: SEMA3E
Primary immunodeficiency disorders Gene: SBDS Louise Daugherty commented on gene: SBDS
Primary immunodeficiency disorders Gene: SAMHD1 Louise Daugherty edited their review of gene: SAMHD1
Primary immunodeficiency disorders Gene: SAMD9L Louise Daugherty reviewed gene: SAMD9L
Primary immunodeficiency disorders Gene: SAMD9 Louise Daugherty reviewed gene: SAMD9
Primary immunodeficiency disorders Gene: RTEL1 Louise Daugherty edited their review of gene: RTEL1
Primary immunodeficiency disorders Gene: RPSA Louise Daugherty edited their review of gene: RPSA
Primary immunodeficiency disorders Gene: RORC Louise Daugherty edited their review of gene: RORC
Primary immunodeficiency disorders Gene: RNU4ATAC Louise Daugherty reviewed gene: RNU4ATAC
Primary immunodeficiency disorders Gene: RNF168 Louise Daugherty edited their review of gene: RNF168
Primary immunodeficiency disorders Gene: RNASEH2C Louise Daugherty edited their review of gene: RNASEH2C
Primary immunodeficiency disorders Gene: RNASEH2B Louise Daugherty edited their review of gene: RNASEH2B
Primary immunodeficiency disorders Gene: RNASEH2A Louise Daugherty edited their review of gene: RNASEH2A
Primary immunodeficiency disorders Gene: RMRP Louise Daugherty commented on gene: RMRP
Primary immunodeficiency disorders Gene: CARMIL2 Louise Daugherty edited their review of gene: CARMIL2
Primary immunodeficiency disorders Gene: RHOH Louise Daugherty commented on gene: RHOH
Primary immunodeficiency disorders Gene: RFXAP Louise Daugherty commented on gene: RFXAP
Primary immunodeficiency disorders Gene: RFXANK Louise Daugherty commented on gene: RFXANK
Primary immunodeficiency disorders Gene: RFX5 Louise Daugherty commented on gene: RFX5
Primary immunodeficiency disorders Gene: RELB Louise Daugherty edited their review of gene: RELB
Primary immunodeficiency disorders Gene: RASGRP1 Louise Daugherty reviewed gene: RASGRP1
Primary immunodeficiency disorders Gene: RANBP2 Louise Daugherty reviewed gene: RANBP2
Primary immunodeficiency disorders Gene: RAG2 Louise Daugherty commented on gene: RAG2
Primary immunodeficiency disorders Gene: RAG1 Louise Daugherty commented on gene: RAG1
Primary immunodeficiency disorders Gene: RAC2 Louise Daugherty commented on gene: RAC2
Primary immunodeficiency disorders Gene: RAB27A Louise Daugherty edited their review of gene: RAB27A
Primary immunodeficiency disorders Gene: PTPRC Louise Daugherty commented on gene: PTPRC
Primary immunodeficiency disorders Gene: PTEN Louise Daugherty reviewed gene: PTEN
Primary immunodeficiency disorders Gene: PSTPIP1 Louise Daugherty edited their review of gene: PSTPIP1
Primary immunodeficiency disorders Gene: PSMB8 Louise Daugherty edited their review of gene: PSMB8
Primary immunodeficiency disorders Gene: PSENEN Louise Daugherty reviewed gene: PSENEN
Primary immunodeficiency disorders Gene: PSEN1 Louise Daugherty reviewed gene: PSEN1
Primary immunodeficiency disorders Gene: PRKDC Louise Daugherty commented on gene: PRKDC
Primary immunodeficiency disorders Gene: PRKCD Louise Daugherty edited their review of gene: PRKCD
Primary immunodeficiency disorders Gene: PRF1 Louise Daugherty commented on gene: PRF1
Primary immunodeficiency disorders Gene: POLE2 Louise Daugherty reviewed gene: POLE2
Primary immunodeficiency disorders Gene: POLE Louise Daugherty commented on gene: POLE
Primary immunodeficiency disorders Gene: POLA1 Louise Daugherty reviewed gene: POLA1
Primary immunodeficiency disorders Gene: PNP Louise Daugherty commented on gene: PNP
Primary immunodeficiency disorders Gene: PMS2 Louise Daugherty commented on gene: PMS2
Primary immunodeficiency disorders Gene: PLEKHM1 Louise Daugherty reviewed gene: PLEKHM1
Primary immunodeficiency disorders Gene: PLCG2 Louise Daugherty edited their review of gene: PLCG2
Primary immunodeficiency disorders Gene: PIK3CD Louise Daugherty commented on gene: PIK3CD
Primary immunodeficiency disorders Gene: PGM3 Louise Daugherty edited their review of gene: PGM3
Primary immunodeficiency disorders Gene: PEPD Louise Daugherty reviewed gene: PEPD
Primary immunodeficiency disorders Gene: PARN Louise Daugherty edited their review of gene: PARN
Primary immunodeficiency disorders Gene: OTULIN Louise Daugherty reviewed gene: OTULIN
Primary immunodeficiency disorders Gene: OSTM1 Louise Daugherty reviewed gene: OSTM1
Primary immunodeficiency disorders Gene: ORAI1 Louise Daugherty edited their review of gene: ORAI1
Primary immunodeficiency disorders Gene: NSMCE3 Louise Daugherty reviewed gene: NSMCE3
Primary immunodeficiency disorders Gene: NOP10 Louise Daugherty commented on gene: NOP10
Primary immunodeficiency disorders Gene: NOD2 Louise Daugherty edited their review of gene: NOD2
Primary immunodeficiency disorders Gene: NLRP12 Louise Daugherty edited their review of gene: NLRP12
Primary immunodeficiency disorders Gene: NLRP1 Louise Daugherty reviewed gene: NLRP1
Primary immunodeficiency disorders Gene: NLRC4 Louise Daugherty edited their review of gene: NLRC4
Primary immunodeficiency disorders Gene: NHP2 Louise Daugherty commented on gene: NHP2
Primary immunodeficiency disorders Gene: NHEJ1 Louise Daugherty commented on gene: NHEJ1
Primary immunodeficiency disorders Gene: NFKB2 Louise Daugherty edited their review of gene: NFKB2
Primary immunodeficiency disorders Gene: NFKB1 Louise Daugherty commented on gene: NFKB1
Primary immunodeficiency disorders Gene: NFAT5 Louise Daugherty commented on gene: NFAT5
Primary immunodeficiency disorders Gene: IKBKG Louise Daugherty edited their review of gene: IKBKG
Primary immunodeficiency disorders Gene: NCSTN Louise Daugherty reviewed gene: NCSTN
Primary immunodeficiency disorders Gene: NCF4 Louise Daugherty commented on gene: NCF4
Primary immunodeficiency disorders Gene: NCF2 Louise Daugherty edited their review of gene: NCF2
Primary immunodeficiency disorders Gene: NCF1 Louise Daugherty edited their review of gene: NCF1
Primary immunodeficiency disorders Gene: NBN Louise Daugherty edited their review of gene: NBN
Primary immunodeficiency disorders Gene: NBAS Louise Daugherty reviewed gene: NBAS
Primary immunodeficiency disorders Gene: MYSM1 Louise Daugherty edited their review of gene: MYSM1
Primary immunodeficiency disorders Gene: MYD88 Louise Daugherty edited their review of gene: MYD88
Primary immunodeficiency disorders Gene: MVK Louise Daugherty edited their review of gene: MVK
Primary immunodeficiency disorders Gene: MTHFD1 Louise Daugherty edited their review of gene: MTHFD1
Primary immunodeficiency disorders Gene: MSN Louise Daugherty edited their review of gene: MSN
Primary immunodeficiency disorders Gene: MSH6 Louise Daugherty edited their review of gene: MSH6
Primary immunodeficiency disorders Gene: MS4A1 Louise Daugherty commented on gene: MS4A1
Primary immunodeficiency disorders Gene: MOGS Louise Daugherty edited their review of gene: MOGS
Primary immunodeficiency disorders Gene: MKL1 Louise Daugherty edited their review of gene: MKL1
Primary immunodeficiency disorders Gene: MEFV Louise Daugherty edited their review of gene: MEFV
Primary immunodeficiency disorders Gene: MCM4 Louise Daugherty edited their review of gene: MCM4
Primary immunodeficiency disorders Gene: MASP2 Louise Daugherty commented on gene: MASP2
Primary immunodeficiency disorders Gene: MAP3K14 Louise Daugherty edited their review of gene: MAP3K14
Primary immunodeficiency disorders Gene: MALT1 Louise Daugherty edited their review of gene: MALT1
Primary immunodeficiency disorders Gene: MAGT1 Louise Daugherty commented on gene: MAGT1
Primary immunodeficiency disorders Gene: LYST Louise Daugherty edited their review of gene: LYST
Primary immunodeficiency disorders Gene: LRBA Louise Daugherty edited their review of gene: LRBA
Primary immunodeficiency disorders Gene: LPIN2 Louise Daugherty edited their review of gene: LPIN2
Primary immunodeficiency disorders Gene: LIG4 Louise Daugherty commented on gene: LIG4
Primary immunodeficiency disorders Gene: LIG1 Louise Daugherty commented on gene: LIG1
Primary immunodeficiency disorders Gene: LCK Louise Daugherty edited their review of gene: LCK
Primary immunodeficiency disorders Gene: LAT Louise Daugherty commented on gene: LAT
Primary immunodeficiency disorders Gene: LAMTOR2 Louise Daugherty edited their review of gene: LAMTOR2
Primary immunodeficiency disorders Gene: KMT2D Louise Daugherty reviewed gene: KMT2D
Primary immunodeficiency disorders Gene: KDM6A Louise Daugherty reviewed gene: KDM6A
Primary immunodeficiency disorders Gene: JAK3 Louise Daugherty commented on gene: JAK3
Primary immunodeficiency disorders Gene: JAGN1 Louise Daugherty commented on gene: JAGN1
Primary immunodeficiency disorders Gene: ITK Louise Daugherty commented on gene: ITK
Primary immunodeficiency disorders Gene: ITGB2 Louise Daugherty edited their review of gene: ITGB2
Primary immunodeficiency disorders Gene: ITCH Louise Daugherty edited their review of gene: ITCH
Primary immunodeficiency disorders Gene: ISG15 Louise Daugherty edited their review of gene: ISG15
Primary immunodeficiency disorders Gene: IRF7 Louise Daugherty commented on gene: IRF7
Primary immunodeficiency disorders Gene: IRF3 Louise Daugherty reviewed gene: IRF3
Primary immunodeficiency disorders Gene: IRF2BP2 Louise Daugherty reviewed gene: IRF2BP2
Primary immunodeficiency disorders Gene: IRAK4 Louise Daugherty edited their review of gene: IRAK4
Primary immunodeficiency disorders Gene: IRAK1 Louise Daugherty reviewed gene: IRAK1
Primary immunodeficiency disorders Gene: INO80 Louise Daugherty edited their review of gene: INO80
Primary immunodeficiency disorders Gene: IL7R Louise Daugherty commented on gene: IL7R
Primary immunodeficiency disorders Gene: IL36RN Louise Daugherty edited their review of gene: IL36RN
Primary immunodeficiency disorders Gene: IL2RG Louise Daugherty commented on gene: IL2RG
Primary immunodeficiency disorders Gene: IL2RA Louise Daugherty edited their review of gene: IL2RA
Primary immunodeficiency disorders Gene: IL21R Louise Daugherty edited their review of gene: IL21R
Primary immunodeficiency disorders Gene: IL21 Louise Daugherty commented on gene: IL21
Primary immunodeficiency disorders Gene: IL1RN Louise Daugherty edited their review of gene: IL1RN
Primary immunodeficiency disorders Gene: IL17RC Louise Daugherty edited their review of gene: IL17RC
Primary immunodeficiency disorders Gene: IL17RA Louise Daugherty commented on gene: IL17RA
Primary immunodeficiency disorders Gene: IL17F Louise Daugherty edited their review of gene: IL17F
Primary immunodeficiency disorders Gene: IL12RB1 Louise Daugherty edited their review of gene: IL12RB1
Primary immunodeficiency disorders Gene: IL12B Louise Daugherty commented on gene: IL12B
Primary immunodeficiency disorders Gene: IL10RB Louise Daugherty commented on gene: IL10RB
Primary immunodeficiency disorders Gene: IL10RA Louise Daugherty commented on gene: IL10RA
Primary immunodeficiency disorders Gene: IL10 Louise Daugherty commented on gene: IL10
Primary immunodeficiency disorders Gene: IKZF1 Louise Daugherty commented on gene: IKZF1
Primary immunodeficiency disorders Gene: IKBKB Louise Daugherty edited their review of gene: IKBKB
Primary immunodeficiency disorders Gene: NFKBIA Louise Daugherty edited their review of gene: NFKBIA
Primary immunodeficiency disorders Gene: IGLL1 Louise Daugherty commented on gene: IGLL1
Primary immunodeficiency disorders Gene: IGKC Louise Daugherty commented on gene: IGKC
Primary immunodeficiency disorders Gene: IGHM Louise Daugherty commented on gene: IGHM
Primary immunodeficiency disorders Gene: IFNGR2 Louise Daugherty edited their review of gene: IFNGR2
Primary immunodeficiency disorders Gene: IFNGR1 Louise Daugherty edited their review of gene: IFNGR1
Primary immunodeficiency disorders Gene: IFNAR2 Louise Daugherty reviewed gene: IFNAR2
Primary immunodeficiency disorders Gene: ICOS Louise Daugherty commented on gene: ICOS
Primary immunodeficiency disorders Gene: HYOU1 Louise Daugherty reviewed gene: HYOU1
Primary immunodeficiency disorders Gene: RNF31 Louise Daugherty commented on gene: RNF31
Primary immunodeficiency disorders Gene: RBCK1 Louise Daugherty commented on gene: RBCK1
Primary immunodeficiency disorders Gene: HMOX1 Louise Daugherty reviewed gene: HMOX1
Primary immunodeficiency disorders Gene: HELLS Louise Daugherty commented on gene: HELLS
Primary immunodeficiency disorders Gene: HAX1 Louise Daugherty commented on gene: HAX1
Primary immunodeficiency disorders Gene: GINS1 Louise Daugherty commented on gene: GINS1
Primary immunodeficiency disorders Gene: GFI1 Louise Daugherty commented on gene: GFI1
Primary immunodeficiency disorders Gene: GATA2 Louise Daugherty commented on gene: GATA2
Primary immunodeficiency disorders Gene: SLC37A4 Louise Daugherty commented on gene: SLC37A4
Primary immunodeficiency disorders Gene: G6PD Louise Daugherty commented on gene: G6PD
Primary immunodeficiency disorders Gene: G6PC3 Louise Daugherty commented on gene: G6PC3
Primary immunodeficiency disorders Gene: FPR1 Louise Daugherty commented on gene: FPR1
Primary immunodeficiency disorders Gene: FOXP3 Louise Daugherty commented on gene: FOXP3
Primary immunodeficiency disorders Gene: FOXN1 Louise Daugherty commented on gene: FOXN1
Primary immunodeficiency disorders Gene: FERMT3 Louise Daugherty commented on gene: FERMT3
Primary immunodeficiency disorders Gene: FCN3 Louise Daugherty commented on gene: FCN3
Primary immunodeficiency disorders Gene: FCGR3A Louise Daugherty commented on gene: FCGR3A
Primary immunodeficiency disorders Gene: FAT4 Louise Daugherty edited their review of gene: FAT4
Primary immunodeficiency disorders Gene: FASLG Louise Daugherty commented on gene: FASLG
Primary immunodeficiency disorders Gene: FADD Louise Daugherty edited their review of gene: FADD
Primary immunodeficiency disorders Gene: FAAP24 Louise Daugherty reviewed gene: FAAP24
Primary immunodeficiency disorders Gene: EXTL3 Louise Daugherty reviewed gene: EXTL3
Primary immunodeficiency disorders Gene: ERCC6L2 Louise Daugherty reviewed gene: ERCC6L2
Primary immunodeficiency disorders Gene: EPG5 Louise Daugherty commented on gene: EPG5
Primary immunodeficiency disorders Gene: ELANE Louise Daugherty commented on gene: ELANE
Primary immunodeficiency disorders Gene: DOCK8 Louise Daugherty commented on gene: DOCK8
Primary immunodeficiency disorders Gene: DOCK2 Louise Daugherty commented on gene: DOCK2
Primary immunodeficiency disorders Gene: DNMT3B Louise Daugherty commented on gene: DNMT3B
Primary immunodeficiency disorders Gene: DNASE2 Louise Daugherty reviewed gene: DNASE2
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty reviewed gene: DNASE1L3
Primary immunodeficiency disorders Gene: DNAJC21 Louise Daugherty reviewed gene: DNAJC21
Primary immunodeficiency disorders Gene: DKC1 Louise Daugherty commented on gene: DKC1
Primary immunodeficiency disorders Gene: DCLRE1C Louise Daugherty commented on gene: DCLRE1C
Primary immunodeficiency disorders Gene: DCLRE1B Louise Daugherty commented on gene: DCLRE1B
Primary immunodeficiency disorders Gene: CYBA Louise Daugherty edited their review of gene: CYBA
Primary immunodeficiency disorders Gene: CXCR4 Louise Daugherty commented on gene: CXCR4
Primary immunodeficiency disorders Gene: CTSC Louise Daugherty commented on gene: CTSC
Primary immunodeficiency disorders Gene: CTPS1 Louise Daugherty commented on gene: CTPS1
Primary immunodeficiency disorders Gene: CTLA4 Louise Daugherty commented on gene: CTLA4
Primary immunodeficiency disorders Gene: CTC1 Louise Daugherty reviewed gene: CTC1
Primary immunodeficiency disorders Gene: CSF3R Louise Daugherty commented on gene: CSF3R
Primary immunodeficiency disorders Gene: CSF2RB Louise Daugherty reviewed gene: CSF2RB
Primary immunodeficiency disorders Gene: CSF2RA Louise Daugherty commented on gene: CSF2RA
Primary immunodeficiency disorders Gene: CR2 Louise Daugherty commented on gene: CR2
Primary immunodeficiency disorders Gene: CORO1A Louise Daugherty commented on gene: CORO1A
Primary immunodeficiency disorders Gene: COPA Louise Daugherty commented on gene: COPA
Primary immunodeficiency disorders Gene: CLPB Louise Daugherty commented on gene: CLPB
Primary immunodeficiency disorders Gene: CLCN7 Louise Daugherty reviewed gene: CLCN7
Primary immunodeficiency disorders Gene: CIITA Louise Daugherty commented on gene: CIITA
Primary immunodeficiency disorders Gene: CHD7 Louise Daugherty commented on gene: CHD7
Primary immunodeficiency disorders Gene: CFTR Louise Daugherty reviewed gene: CFTR
Primary immunodeficiency disorders Gene: CFP Louise Daugherty commented on gene: CFP
Primary immunodeficiency disorders Gene: CFI Louise Daugherty commented on gene: CFI
Primary immunodeficiency disorders Gene: CFHR5 Louise Daugherty commented on gene: CFHR5
Primary immunodeficiency disorders Gene: CFHR4 Louise Daugherty commented on gene: CFHR4
Primary immunodeficiency disorders Gene: CFHR3 Louise Daugherty commented on gene: CFHR3
Primary immunodeficiency disorders Gene: CFHR2 Louise Daugherty commented on gene: CFHR2
Primary immunodeficiency disorders Gene: CFHR1 Louise Daugherty commented on gene: CFHR1
Primary immunodeficiency disorders Gene: CFH Louise Daugherty commented on gene: CFH
Primary immunodeficiency disorders Gene: CFD Louise Daugherty commented on gene: CFD
Primary immunodeficiency disorders Gene: ADA2 Louise Daugherty commented on gene: ADA2
Primary immunodeficiency disorders Gene: CEBPE Louise Daugherty commented on gene: CEBPE
Primary immunodeficiency disorders Gene: CDCA7 Louise Daugherty commented on gene: CDCA7
Primary immunodeficiency disorders Gene: CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency disorders Gene: CD81 Louise Daugherty commented on gene: CD81
Primary immunodeficiency disorders Gene: CD79A Louise Daugherty commented on gene: CD79A
Primary immunodeficiency disorders Gene: CD70 Louise Daugherty edited their review of gene: CD70
Primary immunodeficiency disorders Gene: CD59 Louise Daugherty commented on gene: CD59
Primary immunodeficiency disorders Gene: CD55 Louise Daugherty edited their review of gene: CD55
Primary immunodeficiency disorders Gene: CD46 Louise Daugherty commented on gene: CD46
Primary immunodeficiency disorders Gene: CD40LG Louise Daugherty commented on gene: CD40LG
Primary immunodeficiency disorders Gene: CD40 Louise Daugherty commented on gene: CD40
Primary immunodeficiency disorders Gene: CD3G Louise Daugherty commented on gene: CD3G
Primary immunodeficiency disorders Gene: CD3E Louise Daugherty commented on gene: CD3E
Primary immunodeficiency disorders Gene: CD3D Louise Daugherty commented on gene: CD3D
Primary immunodeficiency disorders Gene: CD27 Louise Daugherty commented on gene: CD27
Primary immunodeficiency disorders Gene: CD247 Louise Daugherty commented on gene: CD247
Primary immunodeficiency disorders Gene: CD19 Louise Daugherty commented on gene: CD19
Primary immunodeficiency disorders Gene: CCBE1 Louise Daugherty commented on gene: CCBE1
Primary immunodeficiency disorders Gene: CASP8 Louise Daugherty edited their review of gene: CASP8
Primary immunodeficiency disorders Gene: CASP10 Louise Daugherty commented on gene: CASP10
Primary immunodeficiency disorders Gene: CARD9 Louise Daugherty commented on gene: CARD9
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency disorders Gene: C9 Louise Daugherty commented on gene: C9
Primary immunodeficiency disorders Gene: C8G Louise Daugherty edited their review of gene: C8G
Primary immunodeficiency disorders Gene: C8B Louise Daugherty commented on gene: C8B
Primary immunodeficiency disorders Gene: C8A Louise Daugherty commented on gene: C8A
Primary immunodeficiency disorders Gene: C7 Louise Daugherty commented on gene: C7
Primary immunodeficiency disorders Gene: C6 Louise Daugherty commented on gene: C6
Primary immunodeficiency disorders Gene: C5 Louise Daugherty commented on gene: C5
Primary immunodeficiency disorders Gene: C4B Louise Daugherty commented on gene: C4B
Primary immunodeficiency disorders Gene: C4A Louise Daugherty commented on gene: C4A
Primary immunodeficiency disorders Gene: C2 Louise Daugherty commented on gene: C2
Primary immunodeficiency disorders Gene: C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency disorders Gene: C1R Louise Daugherty commented on gene: C1R
Primary immunodeficiency disorders Gene: C1QC Louise Daugherty commented on gene: C1QC
Primary immunodeficiency disorders Gene: C1QB Louise Daugherty commented on gene: C1QB
Primary immunodeficiency disorders Gene: C1QA Louise Daugherty commented on gene: C1QA
Primary immunodeficiency disorders Gene: BTK Louise Daugherty commented on gene: BTK
Primary immunodeficiency disorders Gene: BLNK Louise Daugherty commented on gene: BLNK
Primary immunodeficiency disorders Gene: BLM Louise Daugherty commented on gene: BLM
Primary immunodeficiency disorders Gene: BCL11B Louise Daugherty reviewed gene: BCL11B
Primary immunodeficiency disorders Gene: BCL10 Louise Daugherty commented on gene: BCL10
Primary immunodeficiency disorders Gene: BACH2 Louise Daugherty reviewed gene: BACH2
Primary immunodeficiency disorders Gene: B2M Louise Daugherty edited their review of gene: B2M
Primary immunodeficiency disorders Gene: ATP6AP1 Louise Daugherty reviewed gene: ATP6AP1
Primary immunodeficiency disorders Gene: ATM Louise Daugherty commented on gene: ATM
Primary immunodeficiency disorders Gene: ARPC1B Louise Daugherty commented on gene: ARPC1B
Primary immunodeficiency disorders Gene: APOL1 Louise Daugherty commented on gene: APOL1
Primary immunodeficiency disorders Gene: AP3D1 Louise Daugherty commented on gene: AP3D1
Primary immunodeficiency disorders Gene: AP3B1 Louise Daugherty commented on gene: AP3B1
Primary immunodeficiency disorders Gene: AP1S3 Louise Daugherty edited their review of gene: AP1S3
Primary immunodeficiency disorders Gene: AK2 Louise Daugherty commented on gene: AK2
Primary immunodeficiency disorders Gene: AIRE Louise Daugherty commented on gene: AIRE
Primary immunodeficiency disorders Gene: AICDA Louise Daugherty commented on gene: AICDA
Primary immunodeficiency disorders Gene: ADAR Louise Daugherty commented on gene: ADAR
Primary immunodeficiency disorders Gene: ADAM17 Louise Daugherty commented on gene: ADAM17
Primary immunodeficiency disorders Gene: ADA Louise Daugherty commented on gene: ADA
Primary immunodeficiency disorders Gene: ACTB Louise Daugherty edited their review of gene: ACTB
Primary immunodeficiency disorders Gene: ACP5 Louise Daugherty commented on gene: ACP5
Primary immunodeficiency disorders Gene: CYBB Louise Daugherty classified CYBB as Green List (high evidence)
Primary immunodeficiency disorders Gene: CFB Louise Daugherty classified CFB as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: C3 Louise Daugherty classified C3 as Green List (high evidence)
Primary immunodeficiency disorders Gene: CARD11 Louise Daugherty classified CARD11 as Green List (high evidence)
Primary immunodeficiency disorders Gene: PSENEN Sophie Hambleton reviewed gene: PSENEN
Primary immunodeficiency disorders Gene: PSEN1 Sophie Hambleton reviewed gene: PSEN1
Primary immunodeficiency disorders Gene: POLE2 Sophie Hambleton reviewed gene: POLE2
Primary immunodeficiency disorders Gene: POLA1 Sophie Hambleton reviewed gene: POLA1
Primary immunodeficiency disorders Gene: PLEKHM1 Sophie Hambleton reviewed gene: PLEKHM1
Primary immunodeficiency disorders Gene: PEPD Sophie Hambleton reviewed gene: PEPD
Primary immunodeficiency disorders Gene: OSTM1 Sophie Hambleton reviewed gene: OSTM1
Primary immunodeficiency disorders Gene: NSMCE3 Sophie Hambleton reviewed gene: NSMCE3
Primary immunodeficiency disorders Gene: NLRP1 Sophie Hambleton reviewed gene: NLRP1
Primary immunodeficiency disorders Gene: NCSTN Sophie Hambleton reviewed gene: NCSTN
Primary immunodeficiency disorders Gene: NBAS Sophie Hambleton reviewed gene: NBAS
Primary immunodeficiency disorders Gene: MSH6 Sophie Hambleton reviewed gene: MSH6
Primary immunodeficiency disorders Gene: MKL1 Sophie Hambleton reviewed gene: MKL1
Primary immunodeficiency disorders Gene: KMT2D Sophie Hambleton reviewed gene: KMT2D
Primary immunodeficiency disorders Gene: KDM6A Sophie Hambleton reviewed gene: KDM6A
Primary immunodeficiency disorders Gene: JAK1 Sophie Hambleton reviewed gene: JAK1
Primary immunodeficiency disorders Gene: IRF2BP2 Sophie Hambleton reviewed gene: IRF2BP2
Primary immunodeficiency disorders Gene: IRAK1 Sophie Hambleton reviewed gene: IRAK1
Primary immunodeficiency disorders Gene: IFNAR2 Sophie Hambleton reviewed gene: IFNAR2
Primary immunodeficiency disorders Gene: HYOU1 Sophie Hambleton reviewed gene: HYOU1
Primary immunodeficiency disorders Gene: HPS6 Sophie Hambleton reviewed gene: HPS6
Primary immunodeficiency disorders Gene: HPS4 Sophie Hambleton reviewed gene: HPS4
Primary immunodeficiency disorders Gene: HPS1 Sophie Hambleton reviewed gene: HPS1
Primary immunodeficiency disorders Gene: HMOX1 Sophie Hambleton reviewed gene: HMOX1
Primary immunodeficiency disorders Gene: GUCY2C Sophie Hambleton reviewed gene: GUCY2C
Primary immunodeficiency disorders Gene: FAAP24 Sophie Hambleton reviewed gene: FAAP24
Primary immunodeficiency disorders Gene: ERCC6L2 Sophie Hambleton reviewed gene: ERCC6L2
Primary immunodeficiency disorders Gene: DNASE2 Sophie Hambleton reviewed gene: DNASE2
Primary immunodeficiency disorders Gene: DNASE1L3 Sophie Hambleton reviewed gene: DNASE1L3
Primary immunodeficiency disorders Gene: IL17F Sophie Hambleton reviewed gene: IL17F
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty edited their review of gene: CARD14
Generalised pustular psoriasis Gene: CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty classified CARD14 as Amber List (moderate evidence)
Generalised pustular psoriasis Gene: CARD14 Louise Daugherty classified CARD14 as Green List (high evidence)
Primary immunodeficiency disorders Gene: SAMD9 Sophie Hambleton reviewed gene: SAMD9
Primary immunodeficiency disorders Gene: DNAJC21 Sophie Hambleton reviewed gene: DNAJC21
Intellectual disability Gene: ASH1L Louise Daugherty classified ASH1L as Green List (high evidence)
Primary immunodeficiency disorders Gene: CTC1 Sophie Hambleton reviewed gene: CTC1
Primary immunodeficiency disorders Gene: IRF3 Sophie Hambleton reviewed gene: IRF3
Primary immunodeficiency disorders Gene: CSF2RB Sophie Hambleton reviewed gene: CSF2RB
Primary immunodeficiency disorders Gene: CLCN7 Sophie Hambleton reviewed gene: CLCN7
Primary immunodeficiency disorders Gene: CFTR Sophie Hambleton reviewed gene: CFTR
Primary immunodeficiency disorders Gene: ATP6AP1 Sophie Hambleton reviewed gene: ATP6AP1
Primary immunodeficiency disorders Gene: BCL11B Sophie Hambleton reviewed gene: BCL11B
Primary immunodeficiency disorders Gene: BACH2 Sophie Hambleton reviewed gene: BACH2
Primary immunodeficiency disorders Gene: UNC93B1 Sophie Hambleton reviewed gene: UNC93B1
Primary immunodeficiency disorders Gene: TYK2 Sophie Hambleton reviewed gene: TYK2
Primary immunodeficiency disorders Gene: WIPF1 Sophie Hambleton reviewed gene: WIPF1
Primary immunodeficiency disorders Gene: UNC119 Sophie Hambleton reviewed gene: UNC119
Primary immunodeficiency disorders Gene: TRAF3IP2 Sophie Hambleton reviewed gene: TRAF3IP2
Primary immunodeficiency disorders Gene: TRAF3 Sophie Hambleton reviewed gene: TRAF3
Primary immunodeficiency disorders Gene: TPP1 Sophie Hambleton reviewed gene: TPP1
Primary immunodeficiency disorders Gene: TNFSF12 Sophie Hambleton reviewed gene: TNFSF12
Primary immunodeficiency disorders Gene: TNFRSF4 Sophie Hambleton reviewed gene: TNFRSF4
Primary immunodeficiency disorders Gene: TNFRSF13C Sophie Hambleton reviewed gene: TNFRSF13C
Primary immunodeficiency disorders Gene: TMEM173 Sophie Hambleton reviewed gene: TMEM173
Primary immunodeficiency disorders Gene: TINF2 Sophie Hambleton reviewed gene: TINF2
Primary immunodeficiency disorders Gene: THBD Sophie Hambleton reviewed gene: THBD
Primary immunodeficiency disorders Gene: TERT Sophie Hambleton reviewed gene: TERT
Primary immunodeficiency disorders Gene: TERC Sophie Hambleton reviewed gene: TERC
Primary immunodeficiency disorders Gene: TCF7L1 Sophie Hambleton reviewed gene: TCF7L1
Primary immunodeficiency disorders Gene: TAPBP Sophie Hambleton reviewed gene: TAPBP
Primary immunodeficiency disorders Gene: STAT5A Sophie Hambleton reviewed gene: STAT5A
Primary immunodeficiency disorders Gene: SH3BP2 Sophie Hambleton reviewed gene: SH3BP2
Primary immunodeficiency disorders Gene: RNF31 Sophie Hambleton reviewed gene: RNF31
Primary immunodeficiency disorders Gene: RHOH Sophie Hambleton reviewed gene: RHOH
Primary immunodeficiency disorders Gene: RET Sophie Hambleton reviewed gene: RET
Primary immunodeficiency disorders Gene: RBCK1 Sophie Hambleton reviewed gene: RBCK1
Primary immunodeficiency disorders Gene: PSMB9 Sophie Hambleton reviewed gene: PSMB9
Primary immunodeficiency disorders Gene: PSMB4 Sophie Hambleton reviewed gene: PSMB4
Primary immunodeficiency disorders Gene: PSMA3 Sophie Hambleton reviewed gene: PSMA3
Primary immunodeficiency disorders Gene: POLE Sophie Hambleton reviewed gene: POLE
Primary immunodeficiency disorders Gene: PMS2 Sophie Hambleton reviewed gene: PMS2
Primary immunodeficiency disorders Gene: NRAS Sophie Hambleton reviewed gene: NRAS
Primary immunodeficiency disorders Gene: NOP10 Sophie Hambleton reviewed gene: NOP10
Primary immunodeficiency disorders Gene: NHP2 Sophie Hambleton reviewed gene: NHP2
Primary immunodeficiency disorders Gene: NFKBID Sophie Hambleton reviewed gene: NFKBID
Primary immunodeficiency disorders Gene: NFAT5 Sophie Hambleton reviewed gene: NFAT5
Primary immunodeficiency disorders Gene: NCF4 Sophie Hambleton reviewed gene: NCF4
Primary immunodeficiency disorders Gene: MS4A1 Sophie Hambleton reviewed gene: MS4A1
Primary immunodeficiency disorders Gene: MRE11 Sophie Hambleton reviewed gene: MRE11
Primary immunodeficiency disorders Gene: MPO Sophie Hambleton reviewed gene: MPO
Primary immunodeficiency disorders Gene: MPI Sophie Hambleton reviewed gene: MPI
Primary immunodeficiency disorders Gene: BTK Louise Daugherty commented on gene: BTK
Primary immunodeficiency disorders Gene: MBL2 Sophie Hambleton reviewed gene: MBL2
Primary immunodeficiency disorders Gene: MASP2 Sophie Hambleton reviewed gene: MASP2
Primary immunodeficiency disorders Gene: LIG1 Sophie Hambleton reviewed gene: LIG1
Primary immunodeficiency disorders Gene: LAT Sophie Hambleton reviewed gene: LAT
Primary immunodeficiency disorders Gene: IFIH1 Sophie Hambleton reviewed gene: IFIH1
Primary immunodeficiency disorders Gene: ICOSLG Sophie Hambleton reviewed gene: ICOSLG
Primary immunodeficiency disorders Gene: GTF2H5 Sophie Hambleton reviewed gene: GTF2H5
Primary immunodeficiency disorders Gene: FPR1 Sophie Hambleton reviewed gene: FPR1
Primary immunodeficiency disorders Gene: FCN3 Sophie Hambleton reviewed gene: FCN3
Primary immunodeficiency disorders Gene: FCGR3A Sophie Hambleton reviewed gene: FCGR3A
Primary immunodeficiency disorders Gene: FBF1 Sophie Hambleton reviewed gene: FBF1
Genetic Epilepsy Syndromes Gene: ADGRG1 Arianna Tucci reviewed gene: ADGRG1
Primary immunodeficiency disorders Gene: FAT4 Sophie Hambleton reviewed gene: FAT4
Primary immunodeficiency disorders Gene: F12 Sophie Hambleton reviewed gene: F12
Genetic Epilepsy Syndromes Gene: ADAR Arianna Tucci reviewed gene: ADAR
Genetic Epilepsy Syndromes Gene: ACOX1 Arianna Tucci reviewed gene: ACOX1
Primary immunodeficiency disorders Gene: ERCC3 Sophie Hambleton reviewed gene: ERCC3
Primary immunodeficiency disorders Gene: ERCC2 Sophie Hambleton reviewed gene: ERCC2
Genetic Epilepsy Syndromes Gene: ABAT Arianna Tucci reviewed gene: ABAT
Primary immunodeficiency disorders Gene: EPCAM Sophie Hambleton reviewed gene: EPCAM
Primary immunodeficiency disorders Gene: DKC1 Sophie Hambleton reviewed gene: DKC1
Primary immunodeficiency disorders Gene: CTSC Sophie Hambleton reviewed gene: CTSC
Genetic Epilepsy Syndromes Gene: AARS2 Arianna Tucci reviewed gene: AARS2
Primary immunodeficiency disorders Gene: CFHR5 Sophie Hambleton commented on gene: CFHR5
Primary immunodeficiency disorders Gene: CFHR5 Sophie Hambleton reviewed gene: CFHR5
Primary immunodeficiency disorders Gene: CFHR4 Sophie Hambleton reviewed gene: CFHR4
Primary immunodeficiency disorders Gene: CFHR3 Sophie Hambleton reviewed gene: CFHR3
Primary immunodeficiency disorders Gene: CFHR1 Sophie Hambleton reviewed gene: CFHR1
Primary immunodeficiency disorders Gene: CFHR1 Sophie Hambleton reviewed gene: CFHR1
Primary immunodeficiency disorders Gene: CFB Sophie Hambleton reviewed gene: CFB
Primary immunodeficiency disorders Gene: CEBPE Sophie Hambleton reviewed gene: CEBPE
Primary immunodeficiency disorders Gene: AP1S3 Sophie Hambleton reviewed gene: AP1S3
Primary immunodeficiency disorders Gene: IGLL1 Louise Daugherty marked gene: IGLL1 as ready
Primary immunodeficiency disorders Gene: IL10 Louise Daugherty commented on gene: IL10
Primary immunodeficiency disorders Gene: MSH6 Louise Daugherty marked gene: MSH6 as ready
Primary immunodeficiency disorders Gene: MSH6 Louise Daugherty classified MSH6 as Red List (low evidence)
Primary immunodeficiency disorders Gene: MS4A1 Louise Daugherty commented on gene: MS4A1
Primary immunodeficiency disorders Gene: MRE11 Louise Daugherty commented on gene: MRE11
Primary immunodeficiency disorders Gene: FCGR3B Louise Daugherty marked gene: FCGR3B as ready
Primary immunodeficiency disorders Gene: CFHR5 Louise Daugherty marked gene: CFHR5 as ready
Primary immunodeficiency disorders Gene: CFHR4 Louise Daugherty marked gene: CFHR4 as ready
Primary immunodeficiency disorders Gene: CFHR3 Louise Daugherty marked gene: CFHR3 as ready
Primary immunodeficiency disorders Gene: CFHR1 Louise Daugherty marked gene: CFHR1 as ready
Primary immunodeficiency disorders Gene: CD247 Louise Daugherty marked gene: CD247 as ready
Primary immunodeficiency disorders Gene: CD46 Louise Daugherty marked gene: CD46 as ready
Primary immunodeficiency disorders Gene: CD46 Louise Daugherty classified CD46 as Green List (high evidence)
Primary immunodeficiency disorders Gene: CD46 Louise Daugherty edited their review of gene: CD46
Primary immunodeficiency disorders Gene: CD81 Louise Daugherty marked gene: CD81 as ready
Primary immunodeficiency disorders Gene: CD81 Louise Daugherty commented on gene: CD81
Primary immunodeficiency disorders Gene: CD8A Louise Daugherty marked gene: CD8A as ready
Primary immunodeficiency disorders Gene: CD8A Louise Daugherty commented on gene: CD8A
Primary immunodeficiency disorders Gene: CD247 Louise Daugherty classified CD247 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: TRNT1 Louise Daugherty marked gene: TRNT1 as ready
Primary immunodeficiency disorders Gene: TRNT1 Louise Daugherty classified TRNT1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: TRNT1 Louise Daugherty commented on gene: TRNT1
Primary immunodeficiency disorders Gene: TRNT1 Louise Daugherty edited their review of gene: TRNT1
Primary immunodeficiency disorders Gene: TREX1 Louise Daugherty marked gene: TREX1 as ready
Primary immunodeficiency disorders Gene: TREX1 Louise Daugherty edited their review of gene: TREX1
Primary immunodeficiency disorders Gene: TREX1 Louise Daugherty classified TREX1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: TREX1 Louise Daugherty commented on gene: TREX1
Primary immunodeficiency disorders Gene: LCK Louise Daugherty marked gene: LCK as ready
Primary immunodeficiency disorders Gene: LCK Louise Daugherty classified LCK as Green List (high evidence)
Primary immunodeficiency disorders Gene: TTC7A Louise Daugherty marked gene: TTC7A as ready
Primary immunodeficiency disorders Gene: TTC7A Louise Daugherty classified TTC7A as Green List (high evidence)
Primary immunodeficiency disorders Gene: TTC7A Louise Daugherty edited their review of gene: TTC7A
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty marked gene: TRAC as ready
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty classified TRAC as Green List (high evidence)
Primary immunodeficiency disorders Gene: TRAC Louise Daugherty commented on gene: TRAC
Primary immunodeficiency disorders Gene: TPP2 Louise Daugherty marked gene: TPP2 as ready
Primary immunodeficiency disorders Gene: TPP2 Louise Daugherty classified TPP2 as Green List (high evidence)
Undiagnosed metabolic disorders Gene: GPD1 Ellen McDonagh classified GPD1 as Green List (high evidence)
Undiagnosed metabolic disorders Gene: GPD1 Ellen McDonagh Added gene to panel
Severe hypertriglyceridaemia Gene: GPD1 Ellen McDonagh classified GPD1 as Green List (high evidence)
Charcot-Marie-Tooth disease Gene: SYT2 Ellen McDonagh commented on gene: SYT2
Charcot-Marie-Tooth disease Gene: SYT2 Ellen McDonagh classified SYT2 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: TPP2 Louise Daugherty commented on gene: TPP2
Primary immunodeficiency disorders Gene: CD3G Louise Daugherty marked gene: CD3G as ready
Primary immunodeficiency disorders Gene: CD3G Louise Daugherty classified CD3G as Green List (high evidence)
Primary immunodeficiency disorders Gene: CD3G Louise Daugherty edited their review of gene: CD3G
Primary immunodeficiency disorders Gene: CCBE1 Louise Daugherty marked gene: CCBE1 as ready
Primary immunodeficiency disorders Gene: CCBE1 Louise Daugherty classified CCBE1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: CCBE1 Louise Daugherty edited their review of gene: CCBE1
Primary immunodeficiency disorders Gene: CCBE1 Louise Daugherty commented on gene: CCBE1
Primary immunodeficiency disorders Gene: MCM4 Louise Daugherty marked gene: MCM4 as ready
Primary immunodeficiency disorders Gene: MCM4 Louise Daugherty commented on gene: MCM4
Primary immunodeficiency disorders Gene: MCM4 Louise Daugherty classified MCM4 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL17RA Louise Daugherty marked gene: IL17RA as ready
Primary immunodeficiency disorders Gene: IL17RA Louise Daugherty classified IL17RA as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL17RA Louise Daugherty edited their review of gene: IL17RA
Primary immunodeficiency disorders Gene: TMC8 Louise Daugherty marked gene: TMC8 as ready
Primary immunodeficiency disorders Gene: TMC6 Louise Daugherty marked gene: TMC6 as ready
Primary immunodeficiency disorders Gene: TNFRSF1A Louise Daugherty marked gene: TNFRSF1A as ready
Primary immunodeficiency disorders Gene: TCF3 Louise Daugherty marked gene: TCF3 as ready
Primary immunodeficiency disorders Gene: LPIN2 Louise Daugherty marked gene: LPIN2 as ready
Primary immunodeficiency disorders Gene: IL36RN Louise Daugherty marked gene: IL36RN as ready
Primary immunodeficiency disorders Gene: IL1RN Louise Daugherty marked gene: IL1RN as ready
Primary immunodeficiency disorders Gene: FOXP3 Louise Daugherty marked gene: FOXP3 as ready
Primary immunodeficiency disorders Gene: OTULIN Louise Daugherty marked gene: OTULIN as ready
Primary immunodeficiency disorders Gene: FERMT3 Louise Daugherty marked gene: FERMT3 as ready
Primary immunodeficiency disorders Gene: GATA2 Louise Daugherty marked gene: GATA2 as ready
Primary immunodeficiency disorders Gene: TLR3 Louise Daugherty marked gene: TLR3 as ready
Primary immunodeficiency disorders Gene: CARD9 Louise Daugherty marked gene: CARD9 as ready
Primary immunodeficiency disorders Gene: CARD9 Louise Daugherty classified CARD9 as Green List (high evidence)
Primary immunodeficiency disorders Gene: CARD9 Louise Daugherty edited their review of gene: CARD9
Primary immunodeficiency disorders Gene: IL10RB Louise Daugherty marked gene: IL10RB as ready
Primary immunodeficiency disorders Gene: IL10RB Louise Daugherty classified IL10RB as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL10RB Louise Daugherty edited their review of gene: IL10RB
Primary immunodeficiency disorders Gene: IL10RB Louise Daugherty commented on gene: IL10RB
Primary immunodeficiency disorders Gene: IL10RA Louise Daugherty marked gene: IL10RA as ready
Primary immunodeficiency disorders Gene: IL10RA Louise Daugherty classified IL10RA as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL10RA Louise Daugherty edited their review of gene: IL10RA
Primary immunodeficiency disorders Gene: IL10RA Louise Daugherty commented on gene: IL10RA
Primary immunodeficiency disorders Gene: IL10 Louise Daugherty marked gene: IL10 as ready
Primary immunodeficiency disorders Gene: IL10 Louise Daugherty classified IL10 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL10 Louise Daugherty edited their review of gene: IL10
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty marked gene: CARD14 as ready
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty edited their review of gene: CARD14
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty classified CARD14 as Green List (high evidence)
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency disorders Gene: CD8A Sophie Hambleton reviewed gene: CD8A
Primary immunodeficiency disorders Gene: CD8A Sophie Hambleton reviewed gene: CD8A
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency disorders Gene: CARD14 Louise Daugherty commented on gene: CARD14
Primary immunodeficiency disorders Gene: IL12B Louise Daugherty marked gene: IL12B as ready
Primary immunodeficiency disorders Gene: IL12B Louise Daugherty classified IL12B as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL12B Louise Daugherty edited their review of gene: IL12B
Primary immunodeficiency disorders Gene: LAMTOR2 Louise Daugherty marked gene: LAMTOR2 as ready
Primary immunodeficiency disorders Gene: LAMTOR2 Louise Daugherty classified LAMTOR2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: KRAS Louise Daugherty marked gene: KRAS as ready
Primary immunodeficiency disorders Gene: KRAS Louise Daugherty commented on gene: KRAS
Primary immunodeficiency disorders Gene: KRAS Louise Daugherty commented on gene: KRAS
Primary immunodeficiency disorders Gene: KRAS Louise Daugherty commented on gene: KRAS
Primary immunodeficiency disorders Gene: JAGN1 Louise Daugherty marked gene: JAGN1 as ready
Primary immunodeficiency disorders Gene: JAGN1 Louise Daugherty classified JAGN1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: JAGN1 Louise Daugherty edited their review of gene: JAGN1
Primary immunodeficiency disorders Gene: ITGB2 Louise Daugherty marked gene: ITGB2 as ready
Primary immunodeficiency disorders Gene: ITGB2 Louise Daugherty classified ITGB2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: ITGAM Louise Daugherty marked gene: ITGAM as ready
Primary immunodeficiency disorders Gene: ITGAM Louise Daugherty classified ITGAM as Red List (low evidence)
Primary immunodeficiency disorders Gene: ITCH Louise Daugherty marked gene: ITCH as ready
Primary immunodeficiency disorders Gene: ITCH Louise Daugherty classified ITCH as Green List (high evidence)
Primary immunodeficiency disorders Gene: ITCH Louise Daugherty commented on gene: ITCH
Primary immunodeficiency disorders Gene: ITCH Louise Daugherty commented on gene: ITCH
Primary immunodeficiency disorders Gene: TRAF3 Eleanor Williams reviewed gene: TRAF3
Primary immunodeficiency disorders Gene: MKL1 Louise Daugherty commented on gene: MKL1
Primary immunodeficiency disorders Gene: WRAP53 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: WDR1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: USP18 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: TNFSF11 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: TNFRSF11A Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: TFRC Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: TCIRG1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: STN1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: SRP54 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: SNX10 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: SMARCD2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: SAMD9L Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: SAMD9 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: RNU4ATAC Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: RASGRP1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: RANBP2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: PTEN Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: PSENEN Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: PSEN1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: POLE2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: POLA1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: PLEKHM1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: PEPD Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: OSTM1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: NSMCE3 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: NLRP1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: NCSTN Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: NBAS Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: MKL1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: KMT2D Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: KDM6A Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: JAK1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: IRF3 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: IRF2BP2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: IRAK1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: IFNAR2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: HYOU1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: HMOX1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: FAAP24 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: ERCC6L2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: DNASE2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: DNASE1L3 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: DNAJC21 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: CTC1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: CSF2RB Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: CLCN7 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: CFTR Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: BCL11B Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: BACH2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: ATP6AP1 Louise Daugherty Added gene to panel
Unexplained skeletal dysplasia Gene: MAP3K7 Helen Brittain marked gene: MAP3K7 as ready
Unexplained skeletal dysplasia Gene: MAP3K7 Helen Brittain classified MAP3K7 as Green List (high evidence)
Unexplained skeletal dysplasia Gene: MAP3K7 Helen Brittain Added gene to panel
Primary immunodeficiency disorders Gene: AP1S3 Louise Daugherty classified AP1S3 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: ERCC2 Louise Daugherty classified ERCC2 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: ERCC3 Louise Daugherty classified ERCC3 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: FAT4 Louise Daugherty classified FAT4 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: FBF1 Louise Daugherty classified FBF1 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: GTF2H5 Louise Daugherty classified GTF2H5 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: ICOSLG Louise Daugherty classified ICOSLG as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: MPI Louise Daugherty classified MPI as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: NFKBID Louise Daugherty classified NFKBID as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: PSMA3 Louise Daugherty classified PSMA3 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: PSMB4 Louise Daugherty classified PSMB4 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: PSMB9 Louise Daugherty classified PSMB9 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: TPP1 Louise Daugherty classified TPP1 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: TPP1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: PSMB9 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: PSMB4 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: PSMA3 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: NFKBID Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: MPI Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: ICOSLG Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: GTF2H5 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: FBF1 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: FAT4 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: ERCC3 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: ERCC2 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: AP1S3 Louise Daugherty Added gene to panel
Primary immunodeficiency disorders Gene: TRAF3IP2 Eleanor Williams edited their review of gene: TRAF3IP2
Primary immunodeficiency disorders Gene: TRAF3IP2 Eleanor Williams commented on gene: TRAF3IP2
Genetic Epilepsy Syndromes Gene: ASAH1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ZBTB18 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: YWHAG Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: WDR73 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: WDR62 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: VLDLR Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: UNC80 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: UBA5 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TUBG1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TUBB4A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TUBB3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TUBB2B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TUBB Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TUBA8 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TUBA1A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TSFM Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TSEN54 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TSEN34 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TSEN2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TRIP13 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TRIM8 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TREX1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TRAPPC6B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TRAPPC12 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TNK2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TMEM70 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TIMM50 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TFE3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TBCK Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TBCD Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: TBC1D20 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SURF1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SUCLG1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SUCLA2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: STAMBP Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: STAG1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ST3GAL5 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SPR Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SNORD118 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SMC1A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SLC45A1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SLC25A12 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SIX3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SHH Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SETD1B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SETBP1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SEPSECS Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SDHA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SCO2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SCO1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: SAMHD1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RUSC2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RRM2B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RORB Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ROGDI Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RNU4ATAC Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RNASET2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RNASEH2C Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RNASEH2B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RNASEH2A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RMND1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RFT1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RELN Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RARS2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RAB3GAP2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RAB3GAP1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RAB18 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: RAB11B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: QDPR Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PTS Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PTPN23 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PTF1A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PTEN Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PSPH Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PSAT1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PSAP Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PROSC Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PPP3CA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: POMT2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: POMT1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: POMGNT1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PMM2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PLAA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PIK3R2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PIK3CA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PIGW Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PIGO Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PIGC Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PHGDH Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PEX7 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PEX1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PET100 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PDSS2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PDHX Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PDHA1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PCLO Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PCCB Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PCCA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PAH Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: PAFAH1B1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: OTX2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: OPHN1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: OCLN Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NUBPL Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NSDHL Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NSD1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NRAS Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NPRL3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NPRL2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NGLY1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFV1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFS8 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFS7 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFS6 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFS4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFS2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFS1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFAF5 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFAF4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFAF3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFAF2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFA2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFA11 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFA10 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDUFA1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDP Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NDE1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NARS2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: NAGA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MTR Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MTHFR Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MPDU1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MMADHC Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MMACHC Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MLC1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MED12 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MAP2K2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MAP2K1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: MANBA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: LIPT2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: LIAS Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: LARGE1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KRAS Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KIF5C Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KIF2A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KIF1A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KIAA1109 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KCTD3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KCNQ5 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KCNJ11 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: KAT5 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ISPD Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: IKBKG Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: IFIH1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HSPD1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HSD17B4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HRAS Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HPRT1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HOXA1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HEXB Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HEXA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HEPACAM Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HCN2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HCFC1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: HCCS Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: H3F3B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: H3F3A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GTPBP3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GRIN2D Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GNB1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GNAQ Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GM2A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GLUL Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GLUD1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GLI3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GLDC Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GLB1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GFM1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GFAP Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GCSH Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GCH1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GBA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GALC Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: GABRB2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FUCA1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FRRS1L Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FOXRED1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FOLR1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FLNA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FKTN Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FKRP Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FIG4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FH Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FGFR3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FGF12 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FBXL4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FASTKD2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: FARS2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EXOSC3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ETHE1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EMX2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EIF2S3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EIF2B5 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EIF2B4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EIF2B3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EIF2B2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EIF2B1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: EARS2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DYNC1H1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DPM2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DPM1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DPAGT1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DOLK Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DNM1L Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DNAJC6 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DHCR24 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DENND5A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DDX3X Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DCX Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: DBT Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: D2HGDH Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: CSNK2B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COX15 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COX10 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COQ9 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COQ6 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COQ4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COQ2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COL18A1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COG8 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COG7 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COG6 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: COG4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: CNPY3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: CLCN4 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: CCND2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: CCDC88A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: CC2D2A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: CACNA2D2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: C12orf57 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: BRAF Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: BOLA3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: BCS1L Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: BCKDHB Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: BCKDHA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ATP7A Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ATP5A1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ASPA Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ARV1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ARID1B Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ARFGEF2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: AMT Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: AMPD2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALPL Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG9 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG8 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG6 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG12 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALG1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ALDH5A1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: AKT3 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: AKT1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: AIMP1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ADGRG1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ADAR Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ACOX1 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: AARS2 Sarah Leigh Added gene to panel
Genetic Epilepsy Syndromes Gene: ATP1A2 Sarah Leigh classified ATP1A2 as Amber List (moderate evidence)
Arthrogryposis Victorian Clinical Genetics Services Gene: B4GAT1 Sarah Leigh classified B4GAT1 as Green List (high evidence)
Arthrogryposis Victorian Clinical Genetics Services Gene: B4GAT1 Sarah Leigh Added gene to panel
Primary immunodeficiency disorders Gene: CD81 Sophie Hambleton reviewed gene: CD81
Primary immunodeficiency disorders Gene: CD46 Sophie Hambleton reviewed gene: CD46
Intellectual disability Gene: ZBTB24 Zornitza Stark Added gene to panel
Intellectual disability Gene: WDR26 Zornitza Stark Added gene to panel
Intellectual disability Gene: WDFY3 Zornitza Stark Added gene to panel
Intellectual disability Gene: VPS53 Zornitza Stark Added gene to panel
Intellectual disability Gene: UNC13A Zornitza Stark Added gene to panel
Intellectual disability Gene: TRAPPC6B Zornitza Stark Added gene to panel
Intellectual disability Gene: TNIK Zornitza Stark Added gene to panel
Intellectual disability Gene: TBC1D23 Zornitza Stark Added gene to panel
Intellectual disability Gene: TAF6 Zornitza Stark Added gene to panel
Intellectual disability Gene: SSR4 Zornitza Stark Added gene to panel
Intellectual disability Gene: SPECC1L Zornitza Stark Added gene to panel
Intellectual disability Gene: SLC25A12 Zornitza Stark Added gene to panel
Intellectual disability Gene: SETD2 Zornitza Stark Added gene to panel
Intellectual disability Gene: SETD1B Zornitza Stark Added gene to panel
Intellectual disability Gene: SCN3A Zornitza Stark Added gene to panel
Intellectual disability Gene: RNF125 Zornitza Stark Added gene to panel
Intellectual disability Gene: RBBP8 Zornitza Stark Added gene to panel
Intellectual disability Gene: PTPN23 Zornitza Stark Added gene to panel
Intellectual disability Gene: PPP3CA Zornitza Stark Added gene to panel
Intellectual disability Gene: PPP1R15B Zornitza Stark Added gene to panel
Intellectual disability Gene: PIGY Zornitza Stark Added gene to panel
Intellectual disability Gene: PIGW Zornitza Stark Added gene to panel
Intellectual disability Gene: PIGC Zornitza Stark Added gene to panel
Intellectual disability Gene: PCLO Zornitza Stark Added gene to panel
Intellectual disability Gene: PBX1 Zornitza Stark Added gene to panel
Intellectual disability Gene: NDUFAF5 Zornitza Stark Added gene to panel
Intellectual disability Gene: MTFMT Zornitza Stark Added gene to panel
Intellectual disability Gene: MEIS2 Zornitza Stark Added gene to panel
Intellectual disability Gene: KMT5B Zornitza Stark Added gene to panel
Intellectual disability Gene: KLHL7 Zornitza Stark Added gene to panel
Intellectual disability Gene: KIF14 Zornitza Stark Added gene to panel
Intellectual disability Gene: KCTD3 Zornitza Stark Added gene to panel
Intellectual disability Gene: ITPA Zornitza Stark Added gene to panel
Intellectual disability Gene: ISCA2 Zornitza Stark Added gene to panel
Intellectual disability Gene: INTS8 Zornitza Stark Added gene to panel
Intellectual disability Gene: INTS1 Zornitza Stark Added gene to panel
Intellectual disability Gene: HERC2 Zornitza Stark Added gene to panel
Intellectual disability Gene: HEPACAM Zornitza Stark Added gene to panel
Intellectual disability Gene: GTF3C3 Zornitza Stark Added gene to panel
Intellectual disability Gene: GRIA4 Zornitza Stark Added gene to panel
Intellectual disability Gene: GEMIN4 Zornitza Stark Added gene to panel
Intellectual disability Gene: FIBP Zornitza Stark Added gene to panel
Intellectual disability Gene: DPM2 Zornitza Stark Added gene to panel
Intellectual disability Gene: DOCK3 Zornitza Stark Added gene to panel
Intellectual disability Gene: CWC27 Zornitza Stark Added gene to panel
Intellectual disability Gene: CSNK2B Zornitza Stark Added gene to panel
Intellectual disability Gene: CNTN3 Zornitza Stark Added gene to panel
Intellectual disability Gene: CHKB Zornitza Stark Added gene to panel
Intellectual disability Gene: CDC42 Zornitza Stark Added gene to panel
Intellectual disability Gene: CCDC88A Zornitza Stark Added gene to panel
Intellectual disability Gene: AP1S1 Zornitza Stark Added gene to panel
Intellectual disability Gene: C12orf4 Zornitza Stark Added gene to panel
Intellectual disability Gene: BRF1 Zornitza Stark Added gene to panel
Intellectual disability Gene: BPTF Zornitza Stark Added gene to panel
Primary immunodeficiency disorders Gene: FOXN1 Louise Daugherty marked gene: FOXN1 as ready
Primary immunodeficiency disorders Gene: ISG15 Louise Daugherty marked gene: ISG15 as ready
Primary immunodeficiency disorders Gene: ISG15 Louise Daugherty classified ISG15 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IRF8 Louise Daugherty marked gene: IRF8 as ready
Primary immunodeficiency disorders Gene: IRF8 Louise Daugherty classified IRF8 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IRF7 Louise Daugherty marked gene: IRF7 as ready
Primary immunodeficiency disorders Gene: IRF7 Louise Daugherty classified IRF7 as Amber List (moderate evidence)
Primary immunodeficiency disorders Gene: BCL10 Louise Daugherty marked gene: BCL10 as ready
Primary immunodeficiency disorders Gene: IRAK4 Louise Daugherty classified IRAK4 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IRAK4 Louise Daugherty marked gene: IRAK4 as ready
Genetic Epilepsy Syndromes Gene: PNPO Sarah Leigh classified PNPO as Green List (high evidence)
Primary immunodeficiency disorders Gene: INO80 Louise Daugherty marked gene: INO80 as ready
Primary immunodeficiency disorders Gene: INO80 Louise Daugherty classified INO80 as Green List (high evidence)
Primary immunodeficiency disorders Gene: UNC119 Eleanor Williams edited their review of gene: UNC119
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: WNT1 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: TMEM38B Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: SP7 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: SERPINH1 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: SERPINF1 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: PPIB Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: PLS3 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: PLOD2 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: LRP5 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: P3H1 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: IFITM5 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: FKBP10 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: CRTAP Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: CREB3L1 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: COL1A2 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: COL1A1 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: BMP1 Sarah Leigh Added gene to panel
Osteogenesis imperfecta Victorian Clinical Genetics Services Gene: ALPL Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ZFYVE26 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: VPS11 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: UNC13D Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: TYROBP Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: TYMP Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: TWNK Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: TUFM Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: TUBB4A Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: TREX1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: TMEM106B Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: TACO1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SURF1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SUMF1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SUCLA2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: STXBP2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: STX11 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SPG7 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SPG21 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SPG11 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SPAST Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SPART Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SOX10 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SNORD118 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SLC25A4 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SLC25A12 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SLC25A1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SLC17A5 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SLC16A2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SLC13A5 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SDHB Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SDHAF1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SDHA Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SCP2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SCO2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SCO1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: SAMHD1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: RRM2B Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: RNASET2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: RNASEH2C Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: RNASEH2B Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: RNASEH2A Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: RARS Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: RAB11B Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PYCR2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PSAT1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PSAP Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PRF1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PPT1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: POLR3B Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: POLR3A Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: POLR1C Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: POLR1A Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: POLG2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: POLG Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PLP1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PHGDH Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PEX6 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PEX3 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PEX26 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PEX2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PEX12 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PEX10 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: PEX1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: OCRL Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: OCLN Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NPC2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NPC1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NOTCH3 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NKX6-2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NDUFV1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NDUFS8 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NDUFS7 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NDUFS4 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NDUFS2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NDUFS1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NDUFAF1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NDUFA2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: NAXE Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: MRPS16 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: MPLKIP Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: MLC1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: MCOLN1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: LMNB1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: L2HGDH Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: KIF5A Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ISCA2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: IFIH1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: IBA57 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: HTRA1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: HSPD1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: HSD17B4 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: HMBS Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: HEXA Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: HEPACAM Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GTF2H5 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GLB1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GLA Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GJC2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GJA1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GFM1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GFAP Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GBE1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: GALC Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: FUCA1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: FOLR1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: FAM126A Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: FA2H Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ETFDH Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ERCC8 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ERCC6 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ERCC3 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ERCC2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: EIF2B5 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: EIF2B4 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: EIF2B3 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: EIF2B2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: EIF2B1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: EARS2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: DGUOK Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: DARS2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: DARS Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: D2HGDH Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: CYP7B1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: CYP2U1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: CYP27A1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: CSF1R Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: COX15 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: COX10 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: COQ9 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: COQ8A Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: COQ2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: COL4A1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: CNTNAP1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: CLCN2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: BOLA3 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: BCS1L Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: BCAP31 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ATPAF2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ATP7B Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ATP7A Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ASPA Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ARSA Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ALDH3A2 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: AIMP1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: AIFM1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ADAR Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ACOX1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ACBD5 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: ABCD1 Sarah Leigh Added gene to panel
Leukodystrophy Victorian Clinical Genetics Services Gene: AARS2 Sarah Leigh Added gene to panel
Primary immunodeficiency disorders Gene: TYK2 Eleanor Williams classified TYK2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: TYK2 Eleanor Williams commented on gene: TYK2
Craniosynostosis Victorian Clinical Genetics Services Gene: ZIC1 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: TWIST1 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: TLK2 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: TCF12 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: SLC25A24 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: RUNX2 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: RECQL4 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: POR Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: MSX2 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: IL11RA Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: HUWE1 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: FREM1 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: FGFR3 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: FGFR2 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: FGFR1 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: FGF9 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: FGF10 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: ERF Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: EFNB1 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: EFNA4 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: CDC45 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: ACTG1 Sarah Leigh Added gene to panel
Craniosynostosis Victorian Clinical Genetics Services Gene: ACTB Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: WDR91 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: VRK1 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: VPS53 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: VLDLR Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TUBB3 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TUBB2B Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TUBA8 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TUBA1A Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TSEN54 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TSEN34 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TSEN2 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TSEN15 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TRAPPC6B Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TOE1 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TBCK Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: TBC1D23 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: SPTBN2 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: SLC25A46 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: SETD2 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: SEPSECS Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: RELN Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: RARS2 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: RAB11B Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: PUS3 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: PPP1CB Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: PCLO Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: OPHN1 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: KIAA1109 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: KCNC3 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: KAT5 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: ITPR1 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: INTS8 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: GPAA1 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: FZD3 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: FOXP1 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: EXOSC8 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: EXOSC3 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: DDX3X Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: CLP1 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: CHMP1A Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: CEP55 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: CASK Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: BRF1 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: BCL11A Sarah Leigh Added gene to panel
Primary immunodeficiency disorders Gene: UNC119 Eleanor Williams classified UNC119 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: AUTS2 Sarah Leigh Added gene to panel
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services Gene: AMPD2 Sarah Leigh Added gene to panel
Primary immunodeficiency disorders Gene: UNC119 Eleanor Williams commented on gene: UNC119
Primary immunodeficiency disorders Gene: IL2RA Louise Daugherty marked gene: IL2RA as ready
Primary immunodeficiency disorders Gene: IL2RA Louise Daugherty classified IL2RA as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL22 Louise Daugherty marked gene: IL22 as ready
Arthrogryposis Victorian Clinical Genetics Services Gene: ZIC3 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ZC4H2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: UBA1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: TBX22 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: SLC9A6 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: RBM10 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: OFD1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: MTM1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: MED12 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: L1CAM Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: GPC3 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: FLNA Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: FHL1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: FGFR2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: FGD1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: FBN2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: FAM20C Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: EXOSC3 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ERCC8 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ERCC6 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ERBB3 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: EIF2S3 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ECEL1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: EBP Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: DPM2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: DOK7 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: DNM2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: DCX Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: DAG1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CRLF1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: COLQ Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: COL6A3 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: COL6A2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: COL6A1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: COL12A1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CNTNAP1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CHST14 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CHRNG Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CHRNE Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CHRND Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CHRNB1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CHRNA1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CHAT Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: CASK Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: B3GALNT2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ATRX Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ASXL1 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ARX Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: AP1S2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ANTXR2 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ADAMTS10 Sarah Leigh Added gene to panel
Arthrogryposis Victorian Clinical Genetics Services Gene: ACTA1 Sarah Leigh Added gene to panel
Primary immunodeficiency disorders Gene: IL22 Louise Daugherty classified IL22 as Red List (low evidence)
Intellectual disability Gene: BCKDK Zornitza Stark Added gene to panel
Intellectual disability Gene: ARV1 Zornitza Stark Added gene to panel
Primary immunodeficiency disorders Gene: UNC93B1 Eleanor Williams classified UNC93B1 as Green List (high evidence)
Microcephaly Victorian Clinical Genetics Services Gene: ZNF335 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ZEB2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: WDR62 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: WDR4 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: VRK1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: USP18 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: UNC80 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: UBE3A Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TUBGCP6 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TUBB2B Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TSEN54 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TSEN34 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TSEN2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TRMT10A Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TRIT1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TRIP13 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TRIO Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TRAPPC9 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TRAPPC6B Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TRAPPC12 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TRAIP Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TPRKB Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TP53RK Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TCF4 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TBCD Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TBC1D20 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: TAF2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: STIL Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: STAMBP Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: STAG1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: SLC9A6 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: SLC2A1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: SLC25A19 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: SLC1A4 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: SASS6 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: RUSC2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: RTTN Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: RBBP8 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: RARS2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: RAC1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: RAB3GAP2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: RAB3GAP1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: RAB18 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: PUF60 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: PTPN23 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: PQBP1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: PPP1R15B Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: POMT1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: POGZ Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: PNKP Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: PHC1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: PCNT Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: PAFAH1B1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: OSGEP Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ORC6 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ORC4 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ORC1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NUP188 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NUP107 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NIN Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NHEJ1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NDE1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NCAPH Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NCAPD3 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NCAPD2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NBN Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: NACC1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: MSMO1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: MRE11 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: MFSD2A Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: MED17 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: MECP2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: MCPH1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: LIG4 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: LARP7 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: LAGE3 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: KLHL7 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: KIF14 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: KIF11 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: IER3IP1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: HIST1H4C Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: FOXG1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: FDXR Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: SELENOI Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: EIF2S3 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: EFTUD2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: DYRK1A Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: DONSON Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: DNM1L Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: DNA2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CTCF Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CEP63 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CEP152 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CEP135 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CENPJ Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CENPE Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CDT1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CDKL5 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CDK6 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CDK5RAP2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CDK13 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: CASK Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: KNL1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: BUB1B Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: BPTF Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ATRX Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ATR Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ASPM Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ARFGEF2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ARCN1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: AP4S1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: AP4M1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: AP4E1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: AP4B1 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: ANKLE2 Sarah Leigh Added gene to panel
Microcephaly Victorian Clinical Genetics Services Gene: AKT3 Sarah Leigh Added gene to panel
Cholestasis Gene: ALDOB Ellen McDonagh marked gene: ALDOB as ready
Cholestasis Gene: ALDOB Ellen McDonagh classified ALDOB as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL21R Louise Daugherty marked gene: IL21R as ready
Primary immunodeficiency disorders Gene: IL21R Louise Daugherty classified IL21R as Green List (high evidence)
Cholestasis Gene: AKR1D1 Ellen McDonagh marked gene: AKR1D1 as ready
Cholestasis Gene: AKR1D1 Ellen McDonagh classified AKR1D1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL21 Louise Daugherty marked gene: IL21 as ready
Primary immunodeficiency disorders Gene: IL21 Louise Daugherty commented on gene: IL21
Ciliopathies Victorian Clinical Genetics Services Gene: ZNF423 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ZMYND10 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ZIC3 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: XPNPEP3 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: WDR60 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: WDR35 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: WDR34 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: WDR19 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: WDPCP Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: UMOD Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TXNDC15 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TTC8 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TTC21B Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TRIM32 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TRAF3IP1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TMEM67 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TMEM237 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TMEM231 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TMEM216 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TMEM138 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TMEM107 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TCTN3 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TCTN2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TCTN1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TCTEX1D2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TBC1D32 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: TAPT1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: SUFU Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: SPAG1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: SEC63 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: SDCCAG8 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: SCLT1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: SBDS Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: RSPH9 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: RSPH4A Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: RSPH1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: RPGRIP1L Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: RPGR Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: PRKCSH Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: POC1B Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: PKHD1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: PKD2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: PKD1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: PDE6D Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: OFD1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: NPHP4 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: NPHP3 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: NPHP1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: NODAL Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: NME8 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: NEK8 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: NEK1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: MUC1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: MKS1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: MKKS Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: MCIDAS Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: MAPKBP1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: LZTFL1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: LRRC6 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: LBR Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: KIF7 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: KIAA0753 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: KIAA0586 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: IQCB1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: INVS Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: INPP5E Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: IFT81 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: IFT80 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: IFT52 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: IFT43 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: IFT172 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: IFT140 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: IFT122 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: HYLS1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: HYDIN Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: HNF1B Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: GLIS2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: GLI3 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: GDF1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: GAS8 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: EXOC3L2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: EVC2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: EVC Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DYNC2LI1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DYNC2H1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DRC1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAL1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAI2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAI1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAH5 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAH11 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAAF5 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAAF4 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAAF3 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAAF2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DNAAF1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DDX59 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: DCDC2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CSPP1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CRELD1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CRB2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CFC1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CFAP53 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CEP83 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CEP55 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CEP41 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CEP290 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CEP164 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CEP120 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CEP104 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CENPF Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CCNO Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CCDC65 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CCDC40 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CCDC39 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CCDC28B Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CCDC151 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CCDC114 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CCDC103 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: CC2D2A Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: C5orf42 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: C2CD3 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: C21orf59 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: C21orf2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: BBS9 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: BBS7 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: BBS5 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: BBS4 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: BBS2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: BBS12 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: BBS10 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: BBS1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: B9D2 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: B9D1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ARMC8 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ARMC4 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ARL6 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ARL13B Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ANKS6 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ALMS1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: AHI1 Sarah Leigh Added gene to panel
Ciliopathies Victorian Clinical Genetics Services Gene: ACVR2B Sarah Leigh Added gene to panel
Primary immunodeficiency disorders Gene: UNC93B1 Eleanor Williams commented on gene: UNC93B1
Cholestasis Gene: TFR2 Ellen McDonagh Added gene to panel
Cholestasis Gene: TALDO1 Ellen McDonagh Added gene to panel
Cholestasis Gene: SLC40A1 Ellen McDonagh Added gene to panel
Cholestasis Gene: SLC30A10 Ellen McDonagh Added gene to panel
Cholestasis Gene: MVK Ellen McDonagh Added gene to panel
Cholestasis Gene: MPI Ellen McDonagh Added gene to panel
Cholestasis Gene: IARS Ellen McDonagh Added gene to panel
Cholestasis Gene: HFE2 Ellen McDonagh Added gene to panel
Cholestasis Gene: HFE Ellen McDonagh Added gene to panel
Cholestasis Gene: HAMP Ellen McDonagh Added gene to panel
Cholestasis Gene: HADHA Ellen McDonagh Added gene to panel
Cholestasis Gene: GBE1 Ellen McDonagh Added gene to panel
Cholestasis Gene: GBA Ellen McDonagh Added gene to panel
Cholestasis Gene: GALT Ellen McDonagh Added gene to panel
Cholestasis Gene: COG7 Ellen McDonagh Added gene to panel
Cholestasis Gene: ATP7B Ellen McDonagh Added gene to panel
Cholestasis Gene: ARG1 Ellen McDonagh Added gene to panel
Cholestasis Gene: ADK Ellen McDonagh Added gene to panel
Primary immunodeficiency disorders Gene: IL21 Louise Daugherty commented on gene: IL21
Primary immunodeficiency disorders Gene: IL17RC Louise Daugherty marked gene: IL17RC as ready
Primary immunodeficiency disorders Gene: IL17RC Louise Daugherty classified IL17RC as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL17F Louise Daugherty marked gene: IL17F as ready
Intellectual disability Gene: TRIM37 Zornitza Stark reviewed gene: TRIM37
Primary immunodeficiency disorders Gene: IL17F Louise Daugherty classified IL17F as Green List (high evidence)
Genetic Epilepsy Syndromes Gene: STRADA Sarah Leigh classified STRADA as Green List (high evidence)
Primary immunodeficiency disorders Gene: IL17A Louise Daugherty marked gene: IL17A as ready
Primary immunodeficiency disorders Gene: IL17A Louise Daugherty classified IL17A as Red List (low evidence)
Genetic Epilepsy Syndromes Gene: STRADA Sarah Leigh classified STRADA as Red List (low evidence)
Primary immunodeficiency disorders Gene: IL12RB1 Louise Daugherty marked gene: IL12RB1 as ready
Primary immunodeficiency disorders Gene: IL12RB1 Louise Daugherty classified IL12RB1 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IGKC Louise Daugherty marked gene: IGKC as ready
Primary immunodeficiency disorders Gene: IGKC Louise Daugherty commented on gene: IGKC
Genetic Epilepsy Syndromes Gene: STRADA Sarah Leigh Added gene to panel
Primary immunodeficiency disorders Gene: IFNGR2 Louise Daugherty marked gene: IFNGR2 as ready
Primary immunodeficiency disorders Gene: IFNGR2 Louise Daugherty classified IFNGR2 as Green List (high evidence)
Primary immunodeficiency disorders Gene: IFNGR1 Louise Daugherty marked gene: IFNGR1 as ready
Primary immunodeficiency disorders Gene: IFNGR1 Louise Daugherty classified IFNGR1 as Green List (high evidence)
Intellectual disability Gene: TIMM8A Zornitza Stark reviewed gene: TIMM8A
Primary immunodeficiency disorders Gene: IKBKB Louise Daugherty marked gene: IKBKB as ready
Primary immunodeficiency disorders Gene: IKBKB Louise Daugherty classified IKBKB as Green List (high evidence)
Intellectual disability Gene: THAP1 Zornitza Stark reviewed gene: THAP1
Primary immunodeficiency disorders Gene: CASP8 Louise Daugherty marked gene: CASP8 as ready
Primary immunodeficiency disorders Gene: CASP8 Louise Daugherty classified CASP8 as Green List (high evidence)
Intellectual disability Gene: TGDS Zornitza Stark reviewed gene: TGDS
Primary immunodeficiency disorders Gene: USB1 Louise Daugherty marked gene: USB1 as ready
Primary immunodeficiency disorders Gene: USB1 Louise Daugherty classified USB1 as Green List (high evidence)
Intellectual disability Gene: TCF20 Zornitza Stark reviewed gene: TCF20
Primary immunodeficiency disorders Gene: ZBTB24 Louise Daugherty marked gene: ZBTB24 as ready