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Adult onset neurodegenerative disorder v1.106 CYP2U1 Louise Daugherty edited their review of gene: CYP2U1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CWF19L1 Louise Daugherty edited their review of gene: CWF19L1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CTSF Louise Daugherty edited their review of gene: CTSF: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 CSTB Louise Daugherty edited their review of gene: CSTB: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 COX20 Louise Daugherty edited their review of gene: COX20: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 COQ8A Louise Daugherty edited their review of gene: COQ8A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 COQ2 Louise Daugherty commented on gene: COQ2: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 COG5 Louise Daugherty edited their review of gene: COG5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 COASY Louise Daugherty edited their review of gene: COASY: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 CLP1 Louise Daugherty commented on gene: CLP1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 CIZ1 Louise Daugherty commented on gene: CIZ1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 CHMP1A Louise Daugherty edited their review of gene: CHMP1A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CHCHD2 Louise Daugherty edited their review of gene: CHCHD2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 CHCHD10 Louise Daugherty edited their review of gene: CHCHD10: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 CCDC88C Louise Daugherty commented on gene: CCDC88C: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 CASK Louise Daugherty edited their review of gene: CASK: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CAPN1 Louise Daugherty edited their review of gene: CAPN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CAMTA1 Louise Daugherty edited their review of gene: CAMTA1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CACNB4 Louise Daugherty edited their review of gene: CACNB4: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CACNA1A Louise Daugherty edited their review of gene: CACNA1A: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 CA8 Louise Daugherty edited their review of gene: CA8: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 C9orf72 Louise Daugherty edited their review of gene: C9orf72: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 C19orf12 Louise Daugherty edited their review of gene: C19orf12: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 C12orf65 Louise Daugherty edited their review of gene: C12orf65: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 BSCL2 Louise Daugherty edited their review of gene: BSCL2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 BCAP31 Louise Daugherty edited their review of gene: BCAP31: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 B4GALNT1 Louise Daugherty edited their review of gene: B4GALNT1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN7 Louise Daugherty edited their review of gene: ATXN7: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN3 Louise Daugherty edited their review of gene: ATXN3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN2 Louise Daugherty edited their review of gene: ATXN2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN10 Louise Daugherty edited their review of gene: ATXN10: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATXN1 Louise Daugherty edited their review of gene: ATXN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATP8A2 Louise Daugherty commented on gene: ATP8A2: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ATP7B Louise Daugherty edited their review of gene: ATP7B: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 ATP6AP2 Louise Daugherty commented on gene: ATP6AP2: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ATP2B3 Louise Daugherty commented on gene: ATP2B3: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ATP1A2 Louise Daugherty edited their review of gene: ATP1A2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATN1 Louise Daugherty edited their review of gene: ATN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATM Louise Daugherty edited their review of gene: ATM: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATL1 Louise Daugherty edited their review of gene: ATL1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ATCAY Louise Daugherty edited their review of gene: ATCAY: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ARX Louise Daugherty commented on gene: ARX: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ARHGEF28 Louise Daugherty commented on gene: ARHGEF28: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 ARG1 Louise Daugherty edited their review of gene: ARG1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AR Louise Daugherty edited their review of gene: AR: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 APTX Louise Daugherty edited their review of gene: APTX: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP5Z1 Louise Daugherty commented on gene: AP5Z1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset neurodegenerative disorder v1.106 AP4S1 Louise Daugherty edited their review of gene: AP4S1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP4M1 Louise Daugherty edited their review of gene: AP4M1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP4E1 Louise Daugherty edited their review of gene: AP4E1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP4B1 Louise Daugherty edited their review of gene: AP4B1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AP1S2 Louise Daugherty edited their review of gene: AP1S2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ANXA11 Louise Daugherty edited their review of gene: ANXA11: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.106 ANO3 Louise Daugherty edited their review of gene: ANO3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ANO10 Louise Daugherty edited their review of gene: ANO10: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ALDH18A1 Louise Daugherty edited their review of gene: ALDH18A1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AIMP1 Louise Daugherty edited their review of gene: AIMP1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ADCY5 Louise Daugherty edited their review of gene: ADCY5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ADAR Louise Daugherty edited their review of gene: ADAR: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ABHD12 Louise Daugherty edited their review of gene: ABHD12: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 ABCB7 Louise Daugherty edited their review of gene: ABCB7: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.106 AAAS Louise Daugherty edited their review of gene: AAAS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.105 ZFYVE26 Louise Daugherty Source Expert Review Red was added to ZFYVE26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 YY1 Louise Daugherty Source Expert Review Red was added to YY1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 WWOX Louise Daugherty Source Expert Review Red was added to WWOX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 WFS1 Louise Daugherty Source Expert Review Red was added to WFS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 WDR81 Louise Daugherty Source Expert Review Red was added to WDR81.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 WDR73 Louise Daugherty Source Expert Review Red was added to WDR73.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 WDR45B Louise Daugherty Source Expert Review Red was added to WDR45B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 WASHC5 Louise Daugherty Source Expert Review Red was added to WASHC5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 VRK1 Louise Daugherty Source Expert Review Red was added to VRK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 VPS13D Louise Daugherty Source Expert Review Red was added to VPS13D.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 VLDLR Louise Daugherty Source Expert Review Red was added to VLDLR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 VAMP1 Louise Daugherty Source Expert Review Red was added to VAMP1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 VAC14 Louise Daugherty Source Expert Review Red was added to VAC14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TWNK Louise Daugherty Source Expert Review Red was added to TWNK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TUBB4A Louise Daugherty Source Expert Review Amber was added to TUBB4A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 TTPA Louise Daugherty Source Expert Review Red was added to TTPA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TTBK2 Louise Daugherty Source Expert Review Red was added to TTBK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TSEN54 Louise Daugherty Source Expert Review Red was added to TSEN54.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TSEN2 Louise Daugherty Source Expert Review Red was added to TSEN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TPP1 Louise Daugherty Source Expert Review Red was added to TPP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TOR1A Louise Daugherty Source Expert Review Red was added to TOR1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 THAP1 Louise Daugherty Source Expert Review Red was added to THAP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TH Louise Daugherty Source Expert Review Red was added to TH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TGM6 Louise Daugherty Source Expert Review Red was added to TGM6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 TAF15 Louise Daugherty Source Expert Review Red was added to TAF15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SYNE1 Louise Daugherty Source Expert Review Red was added to SYNE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 STUB1 Louise Daugherty Source Expert Review Red was added to STUB1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SS18L1 Louise Daugherty Source Expert Review Amber was added to SS18L1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 SRD5A3 Louise Daugherty Source Expert Review Red was added to SRD5A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SPTBN2 Louise Daugherty Source Expert Review Red was added to SPTBN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SPR Louise Daugherty Source Expert Review Red was added to SPR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SPG7 Louise Daugherty Source Expert Review Red was added to SPG7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SPG21 Louise Daugherty Source Expert Review Red was added to SPG21.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SPART Louise Daugherty Source Expert Review Red was added to SPART.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SNX14 Louise Daugherty Source Expert Review Red was added to SNX14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SNCB Louise Daugherty Source Expert Review Amber was added to SNCB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 SLC9A6 Louise Daugherty Source Expert Review Red was added to SLC9A6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC6A5 Louise Daugherty Source Expert Review Red was added to SLC6A5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC6A3 Louise Daugherty Source Expert Review Red was added to SLC6A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC52A3 Louise Daugherty Source Expert Review Red was added to SLC52A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC52A2 Louise Daugherty Source Expert Review Red was added to SLC52A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC39A14 Louise Daugherty Source Expert Review Red was added to SLC39A14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC30A10 Louise Daugherty Source Expert Review Amber was added to SLC30A10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 SLC2A1 Louise Daugherty Source Expert Review Red was added to SLC2A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC25A46 Louise Daugherty Source Expert Review Red was added to SLC25A46.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC1A4 Louise Daugherty Source Expert Review Red was added to SLC1A4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC1A3 Louise Daugherty Source Expert Review Red was added to SLC1A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SLC16A2 Louise Daugherty Source Expert Review Red was added to SLC16A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SIL1 Louise Daugherty Source Expert Review Red was added to SIL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SIGMAR1 Louise Daugherty Source Expert Review Amber was added to SIGMAR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 SGCE Louise Daugherty Source Expert Review Red was added to SGCE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SERAC1 Louise Daugherty Source Expert Review Red was added to SERAC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SEPSECS Louise Daugherty Source Expert Review Red was added to SEPSECS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SCN8A Louise Daugherty Source Expert Review Red was added to SCN8A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SCN1A Louise Daugherty Source Expert Review Red was added to SCN1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SAR1B Louise Daugherty Source Expert Review Red was added to SAR1B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 SACS Louise Daugherty Source Expert Review Red was added to SACS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 RTN2 Louise Daugherty Source Expert Review Red was added to RTN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 RNF170 Louise Daugherty Source Expert Review Red was added to RNF170.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 REEP2 Louise Daugherty Source Expert Review Red was added to REEP2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 REEP1 Louise Daugherty Source Expert Review Red was added to REEP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 RARS2 Louise Daugherty Source Expert Review Red was added to RARS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 RAB39B Louise Daugherty Source Expert Review Red was added to RAB39B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PRRT2 Louise Daugherty Source Expert Review Red was added to PRRT2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PRKRA Louise Daugherty Source Expert Review Amber was added to PRKRA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 PRKCG Louise Daugherty Source Expert Review Red was added to PRKCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 POLR3A Louise Daugherty Source Expert Review Red was added to POLR3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 POLG Louise Daugherty Source Expert Review Red was added to POLG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PNPLA6 Louise Daugherty Source Expert Review Red was added to PNPLA6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PNKP Louise Daugherty Source Expert Review Red was added to PNKP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PNKD Louise Daugherty Source Expert Review Red was added to PNKD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PMPCA Louise Daugherty Source Expert Review Red was added to PMPCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PLP1 Louise Daugherty Source Expert Review Red was added to PLP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PEX16 Louise Daugherty Source Expert Review Red was added to PEX16.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PDYN Louise Daugherty Source Expert Review Red was added to PDYN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 PAX6 Louise Daugherty Source Expert Review Red was added to PAX6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 OPHN1 Louise Daugherty Source Expert Review Red was added to OPHN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 OPA3 Louise Daugherty Source Expert Review Red was added to OPA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 NT5C2 Louise Daugherty Source Expert Review Red was added to NT5C2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 NR4A2 Louise Daugherty Source Expert Review Amber was added to NR4A2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 NKX6-2 Louise Daugherty Source Expert Review Red was added to NKX6-2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 NIPA1 Louise Daugherty Source Expert Review Red was added to NIPA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 NEFH Louise Daugherty Source Expert Review Red was added to NEFH.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 MTTP Louise Daugherty Source Expert Review Red was added to MTTP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 MT-ATP6 Louise Daugherty Source Expert Review Red was added to MT-ATP6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 MRE11 Louise Daugherty Source Expert Review Red was added to MRE11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 MMACHC Louise Daugherty Source Expert Review Red was added to MMACHC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 MECR Louise Daugherty Source Expert Review Red was added to MECR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 MARS2 Louise Daugherty Source Expert Review Red was added to MARS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 MAG Louise Daugherty Source Expert Review Red was added to MAG.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 L1CAM Louise Daugherty Source Expert Review Red was added to L1CAM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KMT2B Louise Daugherty Source Expert Review Red was added to KMT2B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KIF1C Louise Daugherty Source Expert Review Red was added to KIF1C.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KIF1A Louise Daugherty Source Expert Review Red was added to KIF1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KIDINS220 Louise Daugherty Source Expert Review Red was added to KIDINS220.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KDM5C Louise Daugherty Source Expert Review Red was added to KDM5C.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KCNQ3 Louise Daugherty Source Expert Review Red was added to KCNQ3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KCNQ2 Louise Daugherty Source Expert Review Red was added to KCNQ2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KCNJ10 Louise Daugherty Source Expert Review Red was added to KCNJ10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 KCNA1 Louise Daugherty Source Expert Review Red was added to KCNA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ITPR1 Louise Daugherty Source Expert Review Red was added to ITPR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 IBA57 Louise Daugherty Source Expert Review Red was added to IBA57.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 HTRA2 Louise Daugherty Source Expert Review Red was added to HTRA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 HSPD1 Louise Daugherty Source Expert Review Red was added to HSPD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 HPCA Louise Daugherty Source Expert Review Red was added to HPCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 HACE1 Louise Daugherty Source Expert Review Red was added to HACE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GRM1 Louise Daugherty Source Expert Review Red was added to GRM1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GRID2 Louise Daugherty Source Expert Review Red was added to GRID2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GPAA1 Louise Daugherty Source Expert Review Red was added to GPAA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GOSR2 Louise Daugherty Source Expert Review Red was added to GOSR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GNAO1 Louise Daugherty Source Expert Review Red was added to GNAO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GNAL Louise Daugherty Source Expert Review Red was added to GNAL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GLRB Louise Daugherty Source Expert Review Red was added to GLRB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GLRA1 Louise Daugherty Source Expert Review Red was added to GLRA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GJC2 Louise Daugherty Source Expert Review Red was added to GJC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 GIGYF2 Louise Daugherty Source Expert Review Amber was added to GIGYF2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 GCH1 Louise Daugherty Source Expert Review Green was added to GCH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.105 GCDH Louise Daugherty Source Expert Review Amber was added to GCDH.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 GBA2 Louise Daugherty Source Expert Review Red was added to GBA2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 FXN Louise Daugherty Source Expert Review Red was added to FXN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 FOLR1 Louise Daugherty Source Expert Review Red was added to FOLR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 FMR1 Louise Daugherty Source Expert Review Red was added to FMR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 FLVCR1 Louise Daugherty Source Expert Review Red was added to FLVCR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 FGF14 Louise Daugherty Source Expert Review Red was added to FGF14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 FARS2 Louise Daugherty Source Expert Review Red was added to FARS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 FA2H Louise Daugherty Source Expert Review Red was added to FA2H.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 EXOSC3 Louise Daugherty Source Expert Review Red was added to EXOSC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ERLIN2 Louise Daugherty Source Expert Review Red was added to ERLIN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ERLIN1 Louise Daugherty Source Expert Review Red was added to ERLIN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ERBB4 Louise Daugherty Source Expert Review Amber was added to ERBB4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 EIF4G1 Louise Daugherty Source Expert Review Amber was added to EIF4G1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 DNAJC19 Louise Daugherty Source Expert Review Red was added to DNAJC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 DMXL2 Louise Daugherty Source Expert Review Red was added to DMXL2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 DLAT Louise Daugherty Source Expert Review Red was added to DLAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 DDHD2 Louise Daugherty Source Expert Review Red was added to DDHD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 DDHD1 Louise Daugherty Source Expert Review Red was added to DDHD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 DDC Louise Daugherty Source Expert Review Red was added to DDC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 DCAF17 Louise Daugherty Source Expert Review Red was added to DCAF17.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 DARS Louise Daugherty Source Expert Review Red was added to DARS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 DAO Louise Daugherty Source Expert Review Amber was added to DAO.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 DAB1 Louise Daugherty Source Expert Review Amber was added to DAB1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 CYP2U1 Louise Daugherty Source Expert Review Red was added to CYP2U1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CWF19L1 Louise Daugherty Source Expert Review Red was added to CWF19L1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CSTB Louise Daugherty Source Expert Review Red was added to CSTB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 COX20 Louise Daugherty Source Expert Review Red was added to COX20.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 COQ8A Louise Daugherty Source Expert Review Red was added to COQ8A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 COG5 Louise Daugherty Source Expert Review Red was added to COG5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CLP1 Louise Daugherty Source Expert Review Amber was added to CLP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 CIZ1 Louise Daugherty Source Expert Review Amber was added to CIZ1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 CHMP1A Louise Daugherty Source Expert Review Red was added to CHMP1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CHCHD2 Louise Daugherty Source Expert Review Green was added to CHCHD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.105 CCDC88C Louise Daugherty Source Expert Review Amber was added to CCDC88C.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 CASK Louise Daugherty Source Expert Review Red was added to CASK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CAPN1 Louise Daugherty Source Expert Review Red was added to CAPN1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CAMTA1 Louise Daugherty Source Expert Review Red was added to CAMTA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CACNB4 Louise Daugherty Source Expert Review Red was added to CACNB4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CACNA1A Louise Daugherty Source Expert Review Red was added to CACNA1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 CA8 Louise Daugherty Source Expert Review Red was added to CA8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 C12orf65 Louise Daugherty Source Expert Review Red was added to C12orf65.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 BSCL2 Louise Daugherty Source Expert Review Red was added to BSCL2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 BCAP31 Louise Daugherty Source Expert Review Red was added to BCAP31.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 B4GALNT1 Louise Daugherty Source Expert Review Red was added to B4GALNT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ATP8A2 Louise Daugherty Source Expert Review Amber was added to ATP8A2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 ATP6AP2 Louise Daugherty Source Expert Review Amber was added to ATP6AP2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 ATP2B3 Louise Daugherty Source Expert Review Amber was added to ATP2B3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 ATP1A2 Louise Daugherty Source Expert Review Red was added to ATP1A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ATM Louise Daugherty Source Expert Review Red was added to ATM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ATL1 Louise Daugherty Source Expert Review Red was added to ATL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ATCAY Louise Daugherty Source Expert Review Red was added to ATCAY.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ARX Louise Daugherty Source Expert Review Amber was added to ARX.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 ARG1 Louise Daugherty Source Expert Review Red was added to ARG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AR Louise Daugherty Source Expert Review Red was added to AR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 APTX Louise Daugherty Source Expert Review Red was added to APTX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AP5Z1 Louise Daugherty Source Expert Review Amber was added to AP5Z1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.105 AP4S1 Louise Daugherty Source Expert Review Red was added to AP4S1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AP4M1 Louise Daugherty Source Expert Review Red was added to AP4M1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AP4E1 Louise Daugherty Source Expert Review Red was added to AP4E1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AP4B1 Louise Daugherty Source Expert Review Red was added to AP4B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AP1S2 Louise Daugherty Source Expert Review Red was added to AP1S2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ANO3 Louise Daugherty Source Expert Review Red was added to ANO3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ANO10 Louise Daugherty Source Expert Review Red was added to ANO10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AMPD2 Louise Daugherty Source Expert Review Red was added to AMPD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ALDH18A1 Louise Daugherty Source Expert Review Red was added to ALDH18A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AIMP1 Louise Daugherty Source Expert Review Red was added to AIMP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ADCY5 Louise Daugherty Source Expert Review Red was added to ADCY5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ADAR Louise Daugherty Source Expert Review Red was added to ADAR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ABHD12 Louise Daugherty Source Expert Review Red was added to ABHD12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 ABCB7 Louise Daugherty Source Expert Review Red was added to ABCB7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.105 AAAS Louise Daugherty Source Expert Review Red was added to AAAS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia and cerebellar anomalies - childhood onset v3.330 Louise Daugherty List of related panels changed from Hereditary ataxia with onset in childhood; Cerebellar anomalies to Hereditary ataxia with onset in childhood; Cerebellar anomalies; R55; R84
Childhood onset leukodystrophy v3.1215 Louise Daugherty List of related panels changed from Childhood onset leukodystrophy to Childhood onset leukodystrophy; R109
Adult onset neurodegenerative disorder v1.104 Louise Daugherty List of related panels changed from to R58
Adult onset dystonia, chorea or related movement disorder v0.114 Louise Daugherty List of related panels changed from to R56
Hereditary ataxia with onset in adulthood v1.211 Louise Daugherty List of related panels changed from Hereditary ataxia with onset in adulthood to Hereditary ataxia with onset in adulthood; R54
Skeletal dysplasia v1.202 GZF1 Eleanor Williams Classified gene: GZF1 as Amber List (moderate evidence)
Skeletal dysplasia v1.202 GZF1 Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber. 2 cases plus functional data, but the functional data does not strongly support a skeletal phenotype.
Skeletal dysplasia v1.202 GZF1 Eleanor Williams Gene: gzf1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.161 MVK Tom Cullup reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 24084495; Phenotypes: Non-syndromic RP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1029 GABRA5 Rebecca Foulger Classified gene: GABRA5 as Amber List (moderate evidence)
Intellectual disability v2.1029 GABRA5 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following external review by Konstantinos Varvagiannis. Not yet associated with a disorder in Gene2Phenotype but linked to EIEE-70 in OMIM. There are three cases from 2 publications (PMIDs 29961870 and 31056671) of GABRA5 variants associated with early infantile epileptic encephalopathy and ID. However in Butler et al., development slowed at the time of seizure onset. Therefore rating Amber awaiting further clinical input.
Intellectual disability v2.1029 GABRA5 Rebecca Foulger Gene: gabra5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.1028 GABRA5 Rebecca Foulger Mode of inheritance for gene: GABRA5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.1027 GABRA5 Rebecca Foulger Phenotypes for gene: GABRA5 were changed from to Epileptic encephalopathy, early infantile, 79, 618559; developmental delay
Intellectual disability v2.1026 GABRA5 Rebecca Foulger Publications for gene: GABRA5 were set to
Intellectual disability v2.1025 GABRA5 Rebecca Foulger commented on gene: GABRA5
Undiagnosed metabolic disorders v1.307 SC5D Ivone Leong Added comment: Comment on publications: There are >3 unrelated cases and an animal model.
Undiagnosed metabolic disorders v1.307 SC5D Ivone Leong Publications for gene: SC5D were set to 27604308
Likely inborn error of metabolism v1.277 SC5D Ivone Leong Classified gene: SC5D as Green List (high evidence)
Likely inborn error of metabolism v1.277 SC5D Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism v1.277 SC5D Ivone Leong Gene: sc5d has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.306 SC5D Ivone Leong Classified gene: SC5D as Green List (high evidence)
Undiagnosed metabolic disorders v1.306 SC5D Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.
Undiagnosed metabolic disorders v1.306 SC5D Ivone Leong Gene: sc5d has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.276 SC5D Ivone Leong Added comment: Comment on publications: There are >3 unrelated cases and an animal model.
Likely inborn error of metabolism v1.276 SC5D Ivone Leong Publications for gene: SC5D were set to 27604308
Intellectual disability v2.1025 GABRA2 Rebecca Foulger Classified gene: GABRA2 as Green List (high evidence)
Intellectual disability v2.1025 GABRA2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: GABRA2 was added to the panel and rated Green by Konstantinos Varvagiannis. Not yet associated with a disorder in Gene2Phenotype but there are sufficient cases from from the literature (PMIDs:29422393, 29961870, 31032849, https://doi.org/10.1101/678219) of GABRA2 variants associated with developmental delay/intellectual disability.
Intellectual disability v2.1025 GABRA2 Rebecca Foulger Gene: gabra2 has been classified as Green List (High Evidence).
Intellectual disability v2.1024 GABRA2 Rebecca Foulger commented on gene: GABRA2: Summary of evidence (refer to Konstantinos Varvagiannis' review for further details):

PMID:29422393, Orenstein et al., 2018 report a male of unrelated Ashkenazi Jewish parents with EIEE-78 and a de novo heterozygous variant in GABRA2 (N335H). Development was severely delayed. Functional studies were not performed but the variant was absent in ExAC and gnomAD controls.

PMID:29961870, Butler et al. 2018 report an 11 year old girl with EIEE-78 and a de novo heterozygous variant in GABRA2 (T292K). Development was delayed, the patient was nonverbal and had profound intellectual disability plus microcephaly.

PMID:31032849, Maljevic et al., 2019 decribe 5 patients (3 sporadic cases and 2 siblings) with four novel de novo GABRA2 missense variants (Val284Ala, Leu291Val, Met263Thr, Phe325Leu). All patients showed some degree of ID (mild to profound).

https://doi.org/10.1101/678219: Sanchis-Juan et al., 2019 identified a de novo missense variant in GABRA2 gene (Pro280Leu) in a 10 year old girl with EIEE and developmental delay. At age-10, she had severe
impairment of language, hand stereotypies, disruptive behavior and repetitive movements.
Intellectual disability v2.1024 GABRA2 Rebecca Foulger commented on gene: GABRA2
Intellectual disability v2.1024 GABRA2 Rebecca Foulger Phenotypes for gene: GABRA2 were changed from Epileptic encephalopathy, early infantile, 78, 618557) to Epileptic encephalopathy, early infantile, 78, 618557; intellectual disability; developmental delay
Intellectual disability v2.1024 GABRA2 Rebecca Foulger Tag missense tag was added to gene: GABRA2.
Intellectual disability v2.1024 GABRA2 Rebecca Foulger Phenotypes for gene: GABRA2 were changed from Epileptic encephalopathy, early infantile, 78 (MIM 618557) to Epileptic encephalopathy, early infantile, 78, 618557)
Severe early-onset obesity v1.25 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Severe early-onset obesity v1.24 Ivone Leong List of related panels changed from Significant early-onset obesity with or without other endocrine features and short stature; Significant early-onset obesity +/- other endocrine features and short stature to Significant early-onset obesity with or without other endocrine features and short stature; Significant early-onset obesity +/- other endocrine features and short stature; R149
Intellectual disability v2.1023 PIGP Rebecca Foulger commented on gene: PIGP
Intellectual disability v2.1023 PIGP Rebecca Foulger Phenotypes for gene: PIGP were changed from Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment to ?Epileptic encephalopathy, early infantile, 55, 617599; Generalized hypotonia; Global developmental delay; Seizures; Intellectual disability; Feeding difficulties; Cortical visual impairment
Likely inborn error of metabolism v1.275 SC5D Ivone Leong Phenotypes for gene: SC5D were changed from Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts to Lathosterolosis, 607330; Intellectual disability; Cataracts
Undiagnosed metabolic disorders v1.305 RNASEH2B Ivone Leong changed review comment from: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.; to: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM about RNASEH2B causing Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.
Undiagnosed metabolic disorders v1.305 RNASEH2C Ivone Leong Classified gene: RNASEH2C as Red List (low evidence)
Undiagnosed metabolic disorders v1.305 RNASEH2C Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2C is associated with Aicardi-Goutieres syndrome 3 on OMIM and Gene2Phenotype. There are 2 unrelated cases from the same geographical region on OMIM about RNASEH2C causing Aicardi-Goutieres syndrome; however, RNASEH2C does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.
Undiagnosed metabolic disorders v1.305 RNASEH2C Ivone Leong Gene: rnaseh2c has been classified as Red List (Low Evidence).
Likely inborn error of metabolism v1.274 RNASEH2C Ivone Leong Classified gene: RNASEH2C as Red List (low evidence)
Likely inborn error of metabolism v1.274 RNASEH2C Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2C is associated with Aicardi-Goutieres syndrome 3 on OMIM and Gene2Phenotype. There are 2 unrelated cases from the same geographical region on OMIM about RNASEH2C causing Aicardi-Goutieres syndrome; however, RNASEH2C does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism v1.274 RNASEH2C Ivone Leong Gene: rnaseh2c has been classified as Red List (Low Evidence).
Likely inborn error of metabolism v1.273 RNASEH2B Ivone Leong changed review comment from: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.; to: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM about RNASEH2B causing Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Undiagnosed metabolic disorders v1.304 RNASEH2B Ivone Leong Classified gene: RNASEH2B as Red List (low evidence)
Undiagnosed metabolic disorders v1.304 RNASEH2B Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.
Undiagnosed metabolic disorders v1.304 RNASEH2B Ivone Leong Gene: rnaseh2b has been classified as Red List (Low Evidence).
Likely inborn error of metabolism v1.273 RNASEH2B Ivone Leong Classified gene: RNASEH2B as Red List (low evidence)
Likely inborn error of metabolism v1.273 RNASEH2B Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism v1.273 RNASEH2B Ivone Leong Gene: rnaseh2b has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.303 RNASEH2A Ivone Leong Classified gene: RNASEH2A as Red List (low evidence)
Undiagnosed metabolic disorders v1.303 RNASEH2A Ivone Leong Gene: rnaseh2a has been classified as Red List (Low Evidence).
Likely inborn error of metabolism v1.272 RNASEH2A Ivone Leong Classified gene: RNASEH2A as Red List (low evidence)
Likely inborn error of metabolism v1.272 RNASEH2A Ivone Leong Gene: rnaseh2a has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.302 RNASEH2A Ivone Leong changed review comment from: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene will remain Amber.; to: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. There are >3 unrelated cases on OMIM supporting the gene-disease link between RNASEH2A with Aicardi-Goutieres syndrome; however, RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.
Likely inborn error of metabolism v1.271 RNASEH2A Ivone Leong changed review comment from: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene will remain Amber.; to: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. There are >3 unrelated cases on OMIM supporting the gene-disease link between RNASEH2A with Aicardi-Goutieres syndrome; however, RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.
Undiagnosed metabolic disorders v1.302 RNASEH2A Ivone Leong commented on gene: RNASEH2A
Likely inborn error of metabolism v1.271 RNASEH2A Ivone Leong commented on gene: RNASEH2A: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene will remain Amber.
Likely inborn error of metabolism v1.271 RNASEH2A Ivone Leong commented on gene: RNASEH2A
Dilated and arrhythmogenic cardiomyopathy v0.44 CSRP3 Matthew Edwards reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v0.44 ACTN2 Matthew Edwards reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v0.44 ABCC9 Matthew Edwards reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v0.44 NEXN Matthew Edwards changed review comment from: On CGGL Royal Brompton DCM panel currently. Only VUS reported to date (but quite a few) moderate evidence in literature - Animal model for DCM phenotype (zebrafish), and some limited segregation. (LOF likely disease mechanism); to: On CGGL Royal Brompton DCM panel currently. Only VUS reported to date (but quite a few) moderate evidence in literature - Animal model for DCM phenotype (zebrafish), and some limited segregation. (LOF likely disease mechanism). Keep as amber for now.
Dilated and arrhythmogenic cardiomyopathy v0.44 NEXN Matthew Edwards reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: None; Publications: 19881492; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 LAMP2 Matthew Edwards gene: LAMP2 was added
gene: LAMP2 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature,NHS GMS
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 21415759; 12084876
Phenotypes for gene: LAMP2 were set to Danon disease (OMIM: 300257)
Review for gene: LAMP2 was set to GREEN
gene: LAMP2 was marked as current diagnostic
Added comment: Gene on Royal Brompton diagnostic panel, metabolic glycogen storage disease, phenocopy for DCM/DCM part of clinical picture
Sources: Literature, NHS GMS
Dilated and arrhythmogenic cardiomyopathy v0.44 FLNC Matthew Edwards gene: FLNC was added
gene: FLNC was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Literature
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLNC were set to 30067491; 28008423
Phenotypes for gene: FLNC were set to arrythmogenic cardiomyopathy; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, myofibrillar, 5
Review for gene: FLNC was set to GREEN
gene: FLNC was marked as current diagnostic
Added comment: On Royal Brompton diagnostic panel, and pathogenic variants reported in phenotypes of arrythmogenic cardiomyopathy with fibrosis (LOF variants). Some good evidence of DCM association in literature. On basis of clinical overlap, this should be on DCM panels.
Sources: NHS GMS, Literature
Dilated and arrhythmogenic cardiomyopathy v0.44 DMD Matthew Edwards gene: DMD was added
gene: DMD was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Literature
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DMD were set to GeneReviews: Dystrophinopathies
Phenotypes for gene: DMD were set to OMIM: 300376 Becker muscular dystrophy; 302045 Cardiomyopathy, dilated, 3B; 310200 Duchenne muscular dystrophy
Review for gene: DMD was set to GREEN
gene: DMD was marked as current diagnostic
Added comment: On CGGL Royal Brompton DCM panel. Pathogenic variants detected in isolated DCM cases and BMD cases (wher DCM part of clinical picture)
Sources: NHS GMS, Literature
Dilated and arrhythmogenic cardiomyopathy v0.44 ACTC1 Matthew Edwards reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 VCL Matthew Edwards reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TTN Matthew Edwards reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25589632, 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TPM1 Matthew Edwards reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TNNT2 Matthew Edwards reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, 20031601; Phenotypes: OMIM: 601494 Cardiomyopathy, dilated, 1D; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TNNI3 Matthew Edwards reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 TMEM43 Matthew Edwards reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v0.44 DSC2 Matthew Edwards changed review comment from: On CGGL Royal Brompton DCm panel. Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlap; to: On CGGL Royal Brompton DCM panel. Definitive ARVC gene, appropriate for DCM panel due to possible phenotypic overlap
Dilated and arrhythmogenic cardiomyopathy v0.44 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, Wilde & Amin JACC: Clinical Electrophysiology Volume 4, Issue 5, May 2018; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 RBM20 Matthew Edwards reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM: 613172 Cardiomyopathy, dilated, 1DD; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 PLN Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM: 609909 Cardiomyopathy, dilated, 1P; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 PKP2 Matthew Edwards reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 MYH7 Matthew Edwards reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 LMNA Matthew Edwards reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: (GeneReviews: LMNA-Related Dilated Cardiomyopathy); Phenotypes: OMIM: 11520 Cardiomyopathy, dilated, 1A; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 JUP Matthew Edwards reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 DSP Matthew Edwards reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 DSG2 Matthew Edwards reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 DSC2 Matthew Edwards reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 BAG3 Matthew Edwards gene: BAG3 was added
gene: BAG3 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAG3 were set to 30442290; 28737513; 28211974
Phenotypes for gene: BAG3 were set to OMIM 613881: Cardiomyopathy, dilated, 1HH; 612954 Myopathy, myofibrillar, 6
Review for gene: BAG3 was set to GREEN
gene: BAG3 was marked as current diagnostic
Added comment: On CGGL Royal Brompton DCM panel. Several pathogenic and likely pathogenic variants (incl CNVs) detected on diagnostic testing with some segregation data. Good evidence in literature.
Sources: NHS GMS
Dilated and arrhythmogenic cardiomyopathy v0.44 DES Matthew Edwards reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 19181099; Phenotypes: OMIM: 604765 Cardiomyopathy, dilated, 1I, OMIM: 601419 Myopathy, myofibrillar, 1; Mode of inheritance: None; Current diagnostic: yes
Dilated and arrhythmogenic cardiomyopathy v0.44 DES Matthew Edwards Deleted their review
Dilated and arrhythmogenic cardiomyopathy v0.44 DES Matthew Edwards reviewed gene: DES: Rating: ; Mode of pathogenicity: None; Publications: 19181099 (review); Phenotypes: OMIM: 604765 Cardiomyopathy, dilated, 1I, OMIM: 601419 Myopathy, myofibrillar, 1; Mode of inheritance: None; Current diagnostic: yes
Likely inborn error of metabolism v1.271 COA6 Sarah Leigh Classified gene: COA6 as Green List (high evidence)
Likely inborn error of metabolism v1.271 COA6 Sarah Leigh Gene: coa6 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.270 PEX5 Sarah Leigh Added comment: Comment on phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370;Rhizomelic chondrodysplasia punctata, type 5 616716
Likely inborn error of metabolism v1.270 PEX5 Sarah Leigh Phenotypes for gene: PEX5 were changed from Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger) to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger)
Likely inborn error of metabolism v1.269 PEX5 Sarah Leigh Marked gene: PEX5 as ready
Likely inborn error of metabolism v1.269 PEX5 Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).
Likely inborn error of metabolism v1.269 PEX5 Sarah Leigh Gene: pex5 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.269 GTPBP3 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy;Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v1.269 GTPBP3 Sarah Leigh Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23; mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 23 616198
Likely inborn error of metabolism v1.268 GTPBP3 Sarah Leigh Marked gene: GTPBP3 as ready
Likely inborn error of metabolism v1.268 GTPBP3 Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).
Likely inborn error of metabolism v1.268 GTPBP3 Sarah Leigh Gene: gtpbp3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.268 DPM2 Sarah Leigh Marked gene: DPM2 as ready
Likely inborn error of metabolism v1.268 DPM2 Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).
Likely inborn error of metabolism v1.268 DPM2 Sarah Leigh Gene: dpm2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.302 HARS2 Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.302 HARS2 Sarah Leigh Phenotypes for gene: HARS2 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Perrault syndrome 2 614926 to ?Perrault syndrome 2 614926
Undiagnosed metabolic disorders v1.301 HARS2 Sarah Leigh Added comment: Comment on publications: PMID: 21464306: One family reported, with five affected siblings who were compound heterozygous for variants L200V and V368L. Functional evidence in c.elegans was provided. PMID: 27650058: patients with sporadic Perrault syndrome IV-1 and VI-I were homozygous for the c.1010A>G (p.Tyr337Cys) variant. The patients were claimed not to be related, but originated from the same region in Morocco and the variant was characterised as being in the same haplotype, suggesting a founder effect. Found at a frequency of 1/121332 in Exac.
Undiagnosed metabolic disorders v1.301 HARS2 Sarah Leigh Publications for gene: HARS2 were set to 27604308
Undiagnosed metabolic disorders v1.300 HARS2 Sarah Leigh Classified gene: HARS2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.300 HARS2 Sarah Leigh Added comment: Comment on list classification: This gene was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that Perrault syndrome was relevant for this panel, and that there was enough evidence for the gene to be Green.
Undiagnosed metabolic disorders v1.300 HARS2 Sarah Leigh Gene: hars2 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.94 CACNB4 Rebecca Foulger commented on gene: CACNB4: PMID:10762541. Escayg et al., 2000 report a C104F missense mutation in affected members of a German family with epilepsy, and in a French Canadian family with episodic ataxia type 5 (MIM:613855). The French Canadian family had 5 affected individuals in 3 generations. The proband, after age 20 years, experienced recurrent episodes of vertigo and ataxia that lasted for several hours. The proband's mother had identical episodes of vertigo and ataxia after age 30 years.
Paroxysmal central nervous system disorders v0.94 CACNB4 Rebecca Foulger Phenotypes for gene: CACNB4 were changed from {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 to Episodic ataxia, type 5, 613855
Paroxysmal central nervous system disorders v0.93 CACNB4 Rebecca Foulger Publications for gene: CACNB4 were set to 10762541
Undiagnosed metabolic disorders v1.299 FECH Sarah Leigh Added comment: Comment on phenotypes: Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity);Erythropoietic protoporphyria, mild variant
Undiagnosed metabolic disorders v1.299 FECH Sarah Leigh Phenotypes for gene: FECH were changed from Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity); Erythropoietic protoporphyria, mild variant to Protoporphyria, erythropoietic, 1 177000
Undiagnosed metabolic disorders v1.298 FECH Sarah Leigh Classified gene: FECH as Green List (high evidence)
Undiagnosed metabolic disorders v1.298 FECH Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 16 variants identified in unrelated cases.
Undiagnosed metabolic disorders v1.298 FECH Sarah Leigh Gene: fech has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.297 FECH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.297 DHODH Sarah Leigh Added comment: Comment on phenotypes: Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism);Bilateral microtia;Deafness and congenital structural abnormalities;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.297 DHODH Sarah Leigh Phenotypes for gene: DHODH were changed from Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism); Bilateral microtia; Deafness and congenital structural abnormalities; Unexplained skeletal dysplasia to Miller syndrome 263750
Undiagnosed metabolic disorders v1.296 DHODH Sarah Leigh Publications for gene: DHODH were set to 27604308
Undiagnosed metabolic disorders v1.295 DHODH Sarah Leigh Classified gene: DHODH as Green List (high evidence)
Undiagnosed metabolic disorders v1.295 DHODH Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported in 6 families (PMID 19915526), together with a knockout mouse model (PMID 27626380).
Undiagnosed metabolic disorders v1.295 DHODH Sarah Leigh Gene: dhodh has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHCR24 Sarah Leigh Added comment: Comment on phenotypes: Desmosterolosis (Disorders of sterol biosynthesis);Intellectual disability;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.294 DHCR24 Sarah Leigh Phenotypes for gene: DHCR24 were changed from Desmosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Unexplained skeletal dysplasia to Desmosterolosis 602398
Undiagnosed metabolic disorders v1.293 DHCR24 Sarah Leigh Publications for gene: DHCR24 were set to 27604308
Undiagnosed metabolic disorders v1.292 DHCR24 Sarah Leigh Classified gene: DHCR24 as Green List (high evidence)
Undiagnosed metabolic disorders v1.292 DHCR24 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least cases, two of the variants were in cis in a case which was compound heterozygous with another variant (PMID 11519011). Supportive functional studies were also presented.
Undiagnosed metabolic disorders v1.292 DHCR24 Sarah Leigh Gene: dhcr24 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.291 DHCR24 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.291 DHCR24 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.291 DHCR24 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.291 DCXR Sarah Leigh Added comment: Comment on phenotypes: Essential pentosuria (Disorders of pentose metabolism) is a benign inborn error of metabolism, in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day, as a result some patients maybe treated inappropriately for diabetes mellitus with insulin (PMID 22042873).
Undiagnosed metabolic disorders v1.291 DCXR Sarah Leigh Phenotypes for gene: DCXR were changed from Essential pentosuria (Disorders of pentose metabolism); [Pentosuria] 260800 to [Pentosuria] 260800
Likely inborn error of metabolism v1.268 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873; 23988570
Undiagnosed metabolic disorders v1.290 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308
Undiagnosed metabolic disorders v1.289 DCXR Sarah Leigh Classified gene: DCXR as Green List (high evidence)
Undiagnosed metabolic disorders v1.289 DCXR Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified within Ashkenazi Jewish population, that functional studies have shown to be loss of function variants that result in lack of the normal DCXR protein.
Undiagnosed metabolic disorders v1.289 DCXR Sarah Leigh Gene: dcxr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.288 DCXR Sarah Leigh Classified gene: DCXR as Green List (high evidence)
Undiagnosed metabolic disorders v1.288 DCXR Sarah Leigh Gene: dcxr has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.267 CYP7B1 Sarah Leigh commented on gene: CYP7B1: Treatable tag: the only surviving patient with oxysterol 7α-hydroxylase deficiency recovered from liver failure after chenodeoxycholic acid (CDCA) treatment beginning at 3 months of age PMID: 31337596
Likely inborn error of metabolism v1.267 CYP7B1 Sarah Leigh Tag treatable tag was added to gene: CYP7B1.
Undiagnosed metabolic disorders v1.287 CYP7B1 Sarah Leigh commented on gene: CYP7B1: Treatable tag: the only surviving patient with oxysterol 7α-hydroxylase deficiency recovered from liver failure after chenodeoxycholic acid (CDCA) treatment beginning at 3 months of age PMID: 31337596
Undiagnosed metabolic disorders v1.287 CYP7B1 Sarah Leigh Tag treatable tag was added to gene: CYP7B1.
Likely inborn error of metabolism v1.267 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883; 18252231; 19187859
Undiagnosed metabolic disorders v1.287 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883; 18252231; 19187859
Undiagnosed metabolic disorders v1.286 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.286 CYP7B1 Sarah Leigh Added comment: Comment on list classification: At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is a more relevant phenotype for metabolic panels.
Undiagnosed metabolic disorders v1.286 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.266 CYP7B1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.266 CYP7B1 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is a more relevant phenotype for metabolic panels.
Likely inborn error of metabolism v1.266 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence)
Likely inborn error of metabolism v1.266 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.266 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence)
Likely inborn error of metabolism v1.266 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.265 CYP7B1 Sarah Leigh changed review comment from: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels.; to: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels.
Likely inborn error of metabolism v1.265 RBP4 Ivone Leong commented on gene: RBP4
Undiagnosed metabolic disorders v1.285 PTS Ivone Leong Phenotypes for gene: PTS were changed from 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism); Intellectual disability to 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism); Intellectual disability; Hyperphenylalaninemia, BH4-deficient, A 261640
Undiagnosed metabolic disorders v1.284 PTS Ivone Leong Classified gene: PTS as Green List (high evidence)
Undiagnosed metabolic disorders v1.284 PTS Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. PTS is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Undiagnosed metabolic disorders v1.284 PTS Ivone Leong Gene: pts has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.92 KCNK18 Rebecca Foulger Phenotypes for gene: KCNK18 were changed from MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 to Migraine, with or without aura, susceptibility to, 13, 613656
Paroxysmal central nervous system disorders v0.91 KCNK18 Rebecca Foulger Mode of inheritance for gene: KCNK18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism v1.265 PTS Ivone Leong commented on gene: PTS: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Undiagnosed metabolic disorders v1.283 CYP7B1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.265 PSPH Ivone Leong commented on gene: PSPH: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Undiagnosed metabolic disorders v1.283 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.283 CYP7B1 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812.
Undiagnosed metabolic disorders v1.283 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.282 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 27604308 9802883 18252231 19187859
Likely inborn error of metabolism v1.265 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.265 CYP7B1 Sarah Leigh Added comment: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels.
Likely inborn error of metabolism v1.265 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.281 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 9802883; 27604308
Undiagnosed metabolic disorders v1.280 CTSC Sarah Leigh Added comment: Comment on phenotypes: Other lysosomal disorders, Cathepsin-related disorders;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.280 CTSC Sarah Leigh Phenotypes for gene: CTSC were changed from Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia to Haim-Munk syndrome 245010; Papillon-Lefevre syndrome 245000; Periodontitis 1, juvenile 170650
Undiagnosed metabolic disorders v1.279 CTSC Sarah Leigh Classified gene: CTSC as Green List (high evidence)
Undiagnosed metabolic disorders v1.279 CTSC Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 13 variants identified in unrelated cases of Papillon-Lefevre syndrome 245000.
Undiagnosed metabolic disorders v1.279 CTSC Sarah Leigh Gene: ctsc has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.278 CTSC Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.278 CLDN19 Sarah Leigh Added comment: Comment on phenotypes: Disorder of magnesium metabolism; Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Undiagnosed metabolic disorders v1.278 CLDN19 Sarah Leigh Phenotypes for gene: CLDN19 were changed from Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Hypomagnesemia 5, renal, with ocular involvement 248190
Undiagnosed metabolic disorders v1.277 CLDN19 Sarah Leigh Publications for gene: CLDN19 were set to 27604308
Undiagnosed metabolic disorders v1.276 CLDN19 Sarah Leigh Classified gene: CLDN19 as Green List (high evidence)
Undiagnosed metabolic disorders v1.276 CLDN19 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 6 unrelated cases.
Undiagnosed metabolic disorders v1.276 CLDN19 Sarah Leigh Gene: cldn19 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.275 CLDN19 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.275 CLDN16 Sarah Leigh Added comment: Comment on phenotypes: Disorder of magnesium metabolism; Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Undiagnosed metabolic disorders v1.275 CLDN16 Sarah Leigh Phenotypes for gene: CLDN16 were changed from Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Hypomagnesemia 3, renal 248250
Undiagnosed metabolic disorders v1.274 CLDN16 Sarah Leigh Classified gene: CLDN16 as Green List (high evidence)
Undiagnosed metabolic disorders v1.274 CLDN16 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 19 variants identified in unrelated cases.
Undiagnosed metabolic disorders v1.274 CLDN16 Sarah Leigh Gene: cldn16 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.273 CLDN16 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.273 CISD2 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only) ;Diabetes with additional phenotypes suggestive of a monogenic aetiology
Undiagnosed metabolic disorders v1.273 CISD2 Sarah Leigh Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Diabetes with additional phenotypes suggestive of a monogenic aetiology; Intellectual disability to Wolfram syndrome 2 604928
Undiagnosed metabolic disorders v1.272 CISD2 Sarah Leigh Publications for gene: CISD2 were set to 27604308
Undiagnosed metabolic disorders v1.271 CISD2 Sarah Leigh Classified gene: CISD2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.271 CISD2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases, together with segration and functional studies.
Undiagnosed metabolic disorders v1.271 CISD2 Sarah Leigh Gene: cisd2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.270 CISD2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.270 CISD2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.270 CISD2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.270 APOB Sarah Leigh Added comment: Comment on phenotypes: Familial hypobetalipoproteinaemia (Inherited hypolipidaemias);Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.270 APOB Sarah Leigh Phenotypes for gene: APOB were changed from Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558
Undiagnosed metabolic disorders v1.269 APOB Sarah Leigh Classified gene: APOB as Green List (high evidence)
Undiagnosed metabolic disorders v1.269 APOB Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases.
Undiagnosed metabolic disorders v1.269 APOB Sarah Leigh Gene: apob has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.268 APOB Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Added comment: Comment on phenotypes: Hypophosphatasia (Disorders of pyridoxine metabolism);Craniosynostosis syndromes phenotypes;Osteogenesis Imperfecta;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Phenotypes for gene: ALPL were changed from Hypophosphatasia (Disorders of pyridoxine metabolism); Craniosynostosis syndromes phenotypes; Osteogenesis Imperfecta; Unexplained skeletal dysplasia to Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile 241500; Odontohypophosphatasia 146300
Undiagnosed metabolic disorders v1.267 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308
Undiagnosed metabolic disorders v1.266 ALPL Sarah Leigh Classified gene: ALPL as Green List (high evidence)
Undiagnosed metabolic disorders v1.266 ALPL Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997).
Undiagnosed metabolic disorders v1.266 ALPL Sarah Leigh Gene: alpl has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.113 YY1 Louise Daugherty Classified gene: YY1 as Amber List (moderate evidence)
Adult onset dystonia, chorea or related movement disorder v0.113 YY1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset dystonia, chorea or related movement disorder v0.113 YY1 Louise Daugherty Gene: yy1 has been classified as Amber List (Moderate Evidence).
Adult onset dystonia, chorea or related movement disorder v0.112 SLC19A3 Louise Daugherty Classified gene: SLC19A3 as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.112 SLC19A3 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Adult onset dystonia, chorea or related movement disorder v0.112 SLC19A3 Louise Daugherty Gene: slc19a3 has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.111 PDGFRB Louise Daugherty Classified gene: PDGFRB as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.111 PDGFRB Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Adult onset dystonia, chorea or related movement disorder v0.111 PDGFRB Louise Daugherty Gene: pdgfrb has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.110 PDGFRB Louise Daugherty Deleted their comment
Adult onset dystonia, chorea or related movement disorder v0.110 PDGFRB Louise Daugherty Classified gene: PDGFRB as Amber List (moderate evidence)
Adult onset dystonia, chorea or related movement disorder v0.110 PDGFRB Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset dystonia, chorea or related movement disorder v0.110 PDGFRB Louise Daugherty Gene: pdgfrb has been classified as Amber List (Moderate Evidence).
Adult onset dystonia, chorea or related movement disorder v0.109 MT-ND6 Louise Daugherty Classified gene: MT-ND6 as Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.109 MT-ND6 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Adult onset dystonia, chorea or related movement disorder v0.109 MT-ND6 Louise Daugherty Gene: mt-nd6 has been classified as Red List (Low Evidence).
Adult onset dystonia, chorea or related movement disorder v0.108 MT-ND1 Louise Daugherty Classified gene: MT-ND1 as Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.108 MT-ND1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Adult onset dystonia, chorea or related movement disorder v0.108 MT-ND1 Louise Daugherty Gene: mt-nd1 has been classified as Red List (Low Evidence).
Adult onset dystonia, chorea or related movement disorder v0.107 MT-ATP6 Louise Daugherty Classified gene: MT-ATP6 as Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.107 MT-ATP6 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Adult onset dystonia, chorea or related movement disorder v0.107 MT-ATP6 Louise Daugherty Gene: mt-atp6 has been classified as Red List (Low Evidence).
Hereditary ataxia with onset in adulthood v1.210 HTT Louise Daugherty Classified gene: HTT as Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.210 HTT Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.210 HTT Louise Daugherty Gene: htt has been classified as Red List (Low Evidence).
Hereditary ataxia with onset in adulthood v1.209 DYNC1H1 Louise Daugherty Classified gene: DYNC1H1 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.209 DYNC1H1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.209 DYNC1H1 Louise Daugherty Gene: dync1h1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.208 DYNC1H1 Louise Daugherty Mode of pathogenicity for gene: DYNC1H1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary ataxia with onset in adulthood v1.207 DYNC1H1 Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Autosomal dominant MR 13, 614563 most relevant; Charcot Marie Tooth, SMA, Intellectual disability to Autosomal dominant MR 13, 614563; Charcot Marie Tooth, SMA, Intellectual disability
Hereditary ataxia with onset in adulthood v1.206 COG5 Louise Daugherty Classified gene: COG5 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.206 COG5 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.206 COG5 Louise Daugherty Gene: cog5 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.205 COG5 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external expert review
Hereditary ataxia with onset in adulthood v1.205 COG5 Louise Daugherty Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.204 CAPN1 Louise Daugherty Classified gene: CAPN1 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.204 CAPN1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.204 CAPN1 Louise Daugherty Gene: capn1 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.203 VRK1 Louise Daugherty Classified gene: VRK1 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.203 VRK1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.203 VRK1 Louise Daugherty Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.202 PNKD Louise Daugherty Classified gene: PNKD as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.202 PNKD Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.202 PNKD Louise Daugherty Gene: pnkd has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.201 KCNQ3 Louise Daugherty Classified gene: KCNQ3 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.201 KCNQ3 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.201 KCNQ3 Louise Daugherty Gene: kcnq3 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.200 KCNQ3 Louise Daugherty Mode of pathogenicity for gene: KCNQ3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary ataxia with onset in adulthood v1.199 SLC6A5 Louise Daugherty Classified gene: SLC6A5 as Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.199 SLC6A5 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.199 SLC6A5 Louise Daugherty Gene: slc6a5 has been classified as Red List (Low Evidence).
Hereditary ataxia with onset in adulthood v1.198 PAX6 Louise Daugherty Classified gene: PAX6 as Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.198 PAX6 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.198 PAX6 Louise Daugherty Gene: pax6 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.335 GABRA5 Rebecca Foulger commented on gene: GABRA5: Summary of evidence (see Konstantinos Varvagiannis' reviews for details): 3 literature cases from 2 papers of patients with epileptic encephalopathy and GABRA5 missense variants:

PMID:29961870, Butler et al. 2018 report a 2 year old boy with EIEE (seizure onset age 4 months) and a p.V294L variant in GABRA5. Cognitive and motor development slowed at the time of seizure onset. A de novo variant in MIA2 was also detected but was considered unlikely to contribute to the patients phenotypes due to allele frequencies in the gnomAD database.

PMID:31056671, Hernandez et al. 2019 screened a cohort of patients with epilepsy and ID and report 2 individuals with EIEE and GABRA5 missense variants (V294F and S413F). Seizures included focal, febrile, focal and tonic, epileptic spasms and status epilepticus. Both had severe ID and delayed motor development.
Early onset or syndromic epilepsy v1.335 GABRA1 Rebecca Foulger Publications for gene: GABRA1 were set to 24623842; 11992121; 21714819; 16718694
Early onset or syndromic epilepsy v1.334 GABRA2 Rebecca Foulger commented on gene: GABRA2: Summary of evidence (see Konstantinos Varvagiannis' reviews for details): Sufficient cases in OMIM and the literature to associate GABRA2 with 'Epileptic encephalopathy, early infantile, 78, 618557'.

PMID:29422393, Orenstein et al., 2018 report a male of unrelated Ashkenazi Jewish parents with EIEE-78 and poor cognitive development, and a de novo heterozygous variant in GABRA2 (N335H). Functional studies were not performed but the variant was absent in ExAC and gnomAD controls.

PMID:29961870, Butler et al. 2018 report an 11 year old girls with EIEE-78 who had multiple seizures starting age 6 weeks, and a de novo heterozygous variant in GABRA2 (T292K).

PMID:31032849, Maljevic et al., 2019 decribe 5 patients (3 sporadic cases and 2 siblings) with four novel de novo GABRA2 missense variants (Val284Ala, Leu291Val, Met263Thr, Phe325Leu). All patients had seizures (Table 1) with onset 1day - 17years. The siblings inherited the variant from a mosaic father.

https://doi.org/10.1101/678219: Sanchis-Juan et al., 2019 identified a de novo missense variant in GABRA2 gene (Pro280Leu) in a 10 year old girl with EIEE and developmental delay.
Early onset or syndromic epilepsy v1.334 GABRA2 Rebecca Foulger Phenotypes for gene: GABRA2 were changed from Epileptic encephalopathy, early infantile, 78 (MIM 618557) to Epileptic encephalopathy, early infantile, 78, 618557
Early onset or syndromic epilepsy v1.333 KATNB1 Rebecca Foulger Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly, 616212 to Lissencephaly 6, with microcephaly, 616212; seizures
Early onset or syndromic epilepsy v1.332 KATNB1 Rebecca Foulger commented on gene: KATNB1
Early onset or syndromic epilepsy v1.332 KATNB1 Rebecca Foulger Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly (MIM 616212) to Lissencephaly 6, with microcephaly, 616212
Hypertrophic cardiomyopathy v1.74 JPH2 James Eden reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17509612; Phenotypes: Cardiomyopathy, hypertrophic, 17 (613873); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 LZTR1 James Eden reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: None; Publications: 30732632; Phenotypes: Noonan syndrome 10 (616564), Noonan syndrome 2 (605275); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.74 FLNC James Eden reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 28356264; Phenotypes: Cardiomyopathy, familial hypertrophic, 26, Cardiomyopathy, familial restrictive 5 (617047), Myopathy, distal, 4 (614065), Myopathy, myofibrillar, 5 (609524); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 VCL James Eden reviewed gene: VCL: Rating: RED; Mode of pathogenicity: None; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1W (611407), Cardiomyopathy, hypertrophic, 15 (613255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 VCL James Eden Deleted their review
Hypertrophic cardiomyopathy v1.74 NEXN James Eden reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 20970104, 27532257; Phenotypes: Cardiomyopathy, dilated, 1CC (613122), Cardiomyopathy, hypertrophic, 20 (613876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 NEXN James Eden Deleted their review
Hypertrophic cardiomyopathy v1.74 MYLK2 James Eden reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic (192600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 MYLK2 James Eden Deleted their review
Long QT syndrome v1.38 KCNJ5 James Eden reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: None; Publications: 23872692; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.38 KCNJ5 James Eden Deleted their review
Long QT syndrome v1.38 ANK2 James Eden reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.38 ANK2 James Eden Deleted their review
Hypertrophic cardiomyopathy v1.74 VCL James Eden reviewed gene: VCL: Rating: RED; Mode of pathogenicity: None; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1W (611407), Cardiomyopathy, hypertrophic, 15 (613255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 VCL James Eden Deleted their review
Long QT syndrome v1.38 KCNJ5 Matthew Edwards changed review comment from: Gene currently on Royal Brompton diagnostic pane, only a few VUS reported. Low literature evidence based on small number of cases (mainly Wang et al. (2013) Heart Rhythm 10:1500-1506). However in view of some evidence, should be amber rather than red.; to: Gene currently on Royal Brompton diagnostic panel, only a few VUS reported. Low literature evidence based on small number of cases (mainly Wang et al. (2013) Heart Rhythm 10:1500-1506).
Arrhythmogenic right ventricular cardiomyopathy v1.36 TTN Matthew Edwards reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535219, 31251381; Phenotypes: OMIM 604145 Cardiomyopathy, dilated, 1G; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 TTN Matthew Edwards Deleted their review
Arrhythmogenic right ventricular cardiomyopathy v1.36 TTN Matthew Edwards reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: 30535219, 31251381; Phenotypes: OMIM 604145 Cardiomyopathy, dilated, 1G; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 TGFB3 Matthew Edwards reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arrhythmogenic right ventricular cardiomyopathy v1.36 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 RBM20 Matthew Edwards reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650543, 30482687; Phenotypes: OMIM: 613172 Cardiomyopathy, dilated, 1DD; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 LMNA Matthew Edwards reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LMNA-related DCM; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 TMEM43 Matthew Edwards reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, 23812740; Phenotypes: Arrhythmogenic right ventricular dysplasia 5; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 PLN Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22820313; Phenotypes: DCM, HCM; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 PKP2 Matthew Edwards reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: Arrhythmogenic right ventricular dysplasia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 JUP Matthew Edwards reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: Arrhythmogenic right ventricular dysplasia 12, Naxon disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 DSP Matthew Edwards reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 DSP Matthew Edwards Deleted their review
Arrhythmogenic right ventricular cardiomyopathy v1.36 DSP Matthew Edwards reviewed gene: DSP: Rating: ; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 DSG2 Matthew Edwards reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: 610193 Arrhythmogenic right ventricular dysplasia 10; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 DSG2 Matthew Edwards Deleted their review
Arrhythmogenic right ventricular cardiomyopathy v1.36 DSG2 Matthew Edwards changed review comment from: On CGGL royal Brompton ACM panel. Definitive ARVC gene.; to: On CGGL royal Brompton ACM panel. Definitive ARVC gene.
Arrhythmogenic right ventricular cardiomyopathy v1.36 DSG2 Matthew Edwards reviewed gene: DSG2: Rating: ; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: 610193 Arrhythmogenic right ventricular dysplasia 10; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 DSC2 Matthew Edwards reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: 610476 Arrhythmogenic right ventricular dysplasia 11; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic right ventricular cardiomyopathy v1.36 DES Matthew Edwards reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM 601419 Myopathy, myofibrillar,; Mode of inheritance: None; Current diagnostic: yes
Long QT syndrome v1.38 SCN4B Matthew Edwards reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.38 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.38 CAV3 Matthew Edwards changed review comment from: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear. ; to: Currently on CGGL Royal Brompton diagnostic panel, only VUS reported to date Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear.
Long QT syndrome v1.38 CAV3 Matthew Edwards changed review comment from: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear. would suggest amber designation rather than red..; to: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear.
Long QT syndrome v1.38 CALM3 Matthew Edwards reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.38 CALM2 Matthew Edwards reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24917665, 26969752; Phenotypes: OMIM 616249 Long QT syndrome 15; Mode of inheritance: None; Current diagnostic: yes
Long QT syndrome v1.38 CALM1 Matthew Edwards changed review comment from: Gene on Royal Brompton LQTS panel, but low evidence for this (although some evidence for de novo variant assoc. with LQTS/VT phenotype). Definitive for CPVT. Happy woth Amber on LQTS panel; to: On CGGL Royal Brompton LQTS panel, but low evidence for this (although some evidence for de novo variant assoc. with LQTS/VT phenotype). Definitive for CPVT. Happy with Amber on LQTS panel
Thoracic aortic aneurysm or dissection (GMS) v0.30 EMILIN1 Matthew Edwards reviewed gene: EMILIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.30 SMAD2 Matthew Edwards changed review comment from: On CCGL Royal Brompton panel currently. Some good evidence in PMID: 26247899. PMID 29392890 describes variants classified in paper as likely pathogenic causing Loeys-Dietz syndrome, with aortic and aortic root aneurysm and arterial dissection and tortuosity; to: On CGGL Royal Brompton panel currently. Some good evidence in PMID: 26247899. PMID 29392890 describes variants classified in paper as likely pathogenic causing Loeys-Dietz syndrome, with aortic and aortic root aneurysm and arterial dissection and tortuosity
Thoracic aortic aneurysm or dissection (GMS) v0.30 EFEMP2 Matthew Edwards reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20019329, 17937443, 22440127; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 SMAD4 Matthew Edwards reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25931195; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.30 SMAD2 Matthew Edwards reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26247899, 29392890; Phenotypes: Loeys-Dietz syndrome (not in OMIM); Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 PRKG1 Matthew Edwards reviewed gene: PRKG1: Rating: ; Mode of pathogenicity: None; Publications: 23910461, 27442293; Phenotypes: OMIM 615436 Aortic aneurysm, familial thoracic 8; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 PLOD1 Matthew Edwards reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15666309, 25277362; Phenotypes: OMIM 225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 MYLK2 Matthew Edwards reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.30 MAT2A Matthew Edwards reviewed gene: MAT2A: Rating: RED; Mode of pathogenicity: None; Publications: 25557781; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.30 NOTCH1 Matthew Edwards reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16729972, 26820064; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 MFAP5 Matthew Edwards reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.30 MED12 Matthew Edwards reviewed gene: MED12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.30 LOX Matthew Edwards reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 26838787, 27432961; Phenotypes: OMIM: 617168 Aortic aneurysm, familial thoracic 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 FOXE3 Matthew Edwards reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.30 FLNA Matthew Edwards reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334594; Phenotypes: OMIM: 314400 Cardiac valvular dysplasia, X-linked, 300049 Heterotopia, periventricular, 1 (amongst others); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 BGN Matthew Edwards reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27632686; Phenotypes: OMIM: 300989 Meester-Loeys syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 TGFBR2 Matthew Edwards reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 610168 Loeys-Dietz syndrome type 2; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 TGFBR1 Matthew Edwards reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 609192 Loeys-Dietz syndrome; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 TGFB3 Matthew Edwards reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25835445; Phenotypes: OMIM: 615582 Loeys-Dietz syndrome 5; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 TGFB2 Matthew Edwards reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 614816 Loeys-Dietz syndrome 4; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 SMAD3 Matthew Edwards reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 613795 Loeys-Dietz syndrome type 3; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 SLC2A10 Matthew Edwards reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 208050 Arterial tortuosity syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 SKI Matthew Edwards reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 MYH11 Matthew Edwards reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 132900 Aortic aneurysm, familial thoracic 4; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 ELN Matthew Edwards reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 123700 Cutis Laxa, 185500 supravalvar aortic stenosis; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 FBN2 Matthew Edwards reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital contractural arachnodactyly; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 FBN1 Matthew Edwards reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 COL3A1 Matthew Edwards reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.30 CBS Matthew Edwards reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.30 ACTA2 Matthew Edwards reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6; Mode of inheritance: None; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.42 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Short QT syndrome v1.20 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Short QT syndrome v1.20 CACNB2 Matthew Edwards reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Short QT syndrome v1.20 CACNA2D1 Matthew Edwards reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Catecholaminergic polymorphic VT v1.20 CALM2 Matthew Edwards reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24917665; Phenotypes: Long QT syndrome 15; Mode of inheritance: None; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 MYPN Matthew Edwards reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v1.74 NEXN Matthew Edwards reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970104, 27532257, 30681346; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v1.74 MYLK2 Matthew Edwards reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v1.74 ACTN2 Matthew Edwards reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 TTR Matthew Edwards reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475415; Phenotypes: Amyloidosis, hereditary, transthyretin-related OMIM 105210; Mode of inheritance: None; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 ACTC1 Matthew Edwards changed review comment from: Gene on Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.; to: Gene on CGGL Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.
Hypertrophic cardiomyopathy v1.74 TNNI3 Matthew Edwards changed review comment from: Gene on Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.; to: Gene on CGGL Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.
Hypertrophic cardiomyopathy v1.74 LZTR1 Matthew Edwards reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: None; Publications: 30732632; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.265 IER3IP1 Helen Brittain Marked gene: IER3IP1 as ready
Undiagnosed metabolic disorders v1.265 IER3IP1 Helen Brittain Gene: ier3ip1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.265 IER3IP1 Helen Brittain Classified gene: IER3IP1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.265 IER3IP1 Helen Brittain Gene: ier3ip1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.264 IER3IP1 Helen Brittain reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.108 Louise Daugherty removed gene:ERCC2 from the panel
Primary immunodeficiency or monogenic inflammatory bowel disease v1.107 BLOC1S6 Louise Daugherty Source North West GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.106 Ellen McDonagh Panel status changed from public to internal
Nephrocalcinosis or nephrolithiasis v1.18 Eleanor Williams List of related panels changed from Renal tract calcification (or Nephrolithiasis or nephrocalcinosis); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Renal tract calcification (or Nephrolithiasis or nephrocalcinosis); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); R256
Ectodermal dysplasia v0.22 DHX40 Catherine Snow Phenotypes for gene: DHX40 were changed from Corneal dystrophy, posterior polymorphous, 4, 618031; Deafness, autosomal dominant 28, 608641; Ectodermal dysplasia/short stature syndrome, 616029 to Ectodermal dysplasia
Epidermolysis bullosa and congenital skin fragility v0.16 DSG3 Catherine Snow Publications for gene: DSG3 were set to
Epidermolysis bullosa and congenital skin fragility v0.15 DSG3 Catherine Snow changed review comment from: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous.

DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. PMID: 16403096 Capon et al provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group PMID: 19678820 concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.; to: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous.

DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. Capon et al (PMID: 16403096) provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group (PMID: 19678820) concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.
Epidermolysis bullosa and congenital skin fragility v0.15 DSG3 Catherine Snow edited their review of gene: DSG3: Added comment: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous.

DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. PMID: 16403096 Capon et al provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group PMID: 19678820 concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.; Changed publications: PMID: 30528827, PMID: 16403096, PMID: 19678820
Pigmentary skin disorders v0.15 ISCA-37431-Loss Catherine Snow Classified Region: ISCA-37431-Loss as Green List (high evidence)
Pigmentary skin disorders v0.15 ISCA-37431-Loss Catherine Snow Region: isca-37431-loss has been classified as Green List (High Evidence).
Pigmentary skin disorders v0.14 ISCA-37431-Loss Catherine Snow Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Pigmentary skin disorders. Sources: ClinGen,Expert Review
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Review for Region: ISCA-37431-Loss was set to GREEN
Added comment: Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green region.
Sources: ClinGen, Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.103 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Primary immunodeficiency. Sources: Other
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect); Immune Dysregulation
Review for gene: BLOC1S6 was set to RED
Added comment: 2 reviews
Sophie Hambleton (Newcastle University)
[email protected]
Red List (low evidence)

Only 1 reported patient (a previous report had to be retracted).
Created: 19 Jun 2018, 5:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 19 Jun 2018, 5:47 a.m.

Panel version: 0.1006
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Your review
Louise Daugherty (Genomics England Curator)
[email protected]
I don't know

Comment on list classification: Changed from Amber to Red after external clinical review, only one bonafide case
Created: 20 Jun 2018, 3:10 p.m.

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After review decided to keep as Amber- currently there is only one case for HPS9 need more individuals to determine if immunodeficiency is a feature of BLOC-1 deficiency
Created: 11 May 2018, 4:31 p.m.

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Comment on publications: one one affected reported to date (2012). Added HPS gene review PMID: 20301464 (2017)
Created: 11 May 2018, 4:25 p.m.

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Comment on phenotypes: added PID phenotype
Created: 11 May 2018, 4:24 p.m.

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This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.

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Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: BLOC1S6, GRID_Gene_Symbol: BLOC1S6, GRID_Transcript_ENS_Community submitted: ENST00000220531, GRID_Transcript_RefSeq: NM_012388.3, GRID_Transcript_ENS_used_on_Production: ENST00000220531
Created: 17 Apr 2018, 12:12 p.m.

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Created: 17 Apr 2018, 12:12 p.m.

Panel version: 0.679
Sources: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v1.102 Louise Daugherty removed gene:BLOC1S6 from the panel
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty changed review comment from: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.; to: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two reported cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NRAS Louise Daugherty commented on gene: NRAS: This is a relevant phenotype but there is not enough evidence in the literature to date (PMID: 17517660 seems to report one person with NRAS and this phenotype) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NRAS Louise Daugherty edited their review of gene: NRAS: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty changed review comment from: Comment on list classification: This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.; to: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Classified gene: NLRP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Added comment: Comment on list classification: This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Gene: nlrp1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.100 HPS6 Louise Daugherty Phenotypes for gene: HPS6 were changed from Hermansky-Pudlak syndrome 6 to Hermansky-Pudlak syndrome 6, 614075
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 NLRP1 Louise Daugherty edited their review of gene: NLRP1: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS1 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (London North GLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS4 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (London North GLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS6 Louise Daugherty Classified gene: HPS6 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS6 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (London North GLH).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 HPS6 Louise Daugherty Gene: hps6 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS6 Louise Daugherty edited their review of gene: HPS6: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS1 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating and phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.; to: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Pigmentary skin disorders v0.13 SOS2 Catherine Snow commented on gene: SOS2
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS4 Louise Daugherty Classified gene: HPS4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS4 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however The Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating, the phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.98 HPS4 Louise Daugherty Gene: hps4 has been classified as Green List (High Evidence).
Pigmentary skin disorders v0.13 RASA2 Catherine Snow commented on gene: RASA2
Pigmentary skin disorders v0.13 A2ML1 Catherine Snow commented on gene: A2ML1
Pigmentary skin disorders v0.13 PPP1CB Catherine Snow commented on gene: PPP1CB
Primary immunodeficiency or monogenic inflammatory bowel disease v1.97 HPS4 Louise Daugherty edited their review of gene: HPS4: Changed rating: AMBER
Pigmentary skin disorders v0.13 MAP2K1 Catherine Snow commented on gene: MAP2K1
Pigmentary skin disorders v0.13 LZTR1 Catherine Snow commented on gene: LZTR1
Primary immunodeficiency or monogenic inflammatory bowel disease v1.97 HPS4 Louise Daugherty Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, 614073
Primary immunodeficiency or monogenic inflammatory bowel disease v1.96 HPS1 Louise Daugherty Classified gene: HPS1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.96 HPS1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. There is strong evidence for gene:disease association, the query previously for this gene was the phenotype, however Immunology Specialist Test Group during webex call 28th March 2019 recommended Green rating and phenotype was relevant to the panel for GMS, and further confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH).
The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.96 HPS1 Louise Daugherty Gene: hps1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 HPS1 Louise Daugherty edited their review of gene: HPS1: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CFB Louise Daugherty commented on gene: CFB: This is a relevant phenotype but there is not enough evidence in the literature to date (one case) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CFB Louise Daugherty edited their review of gene: CFB: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CARD14 Louise Daugherty Classified gene: CARD14 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CARD14 Louise Daugherty Added comment: Comment on list classification: Changed rating from Amber to Green. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June (North West GLH) and 6th September (LNGLH). The Specialist Test Group all agreed that there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.95 CARD14 Louise Daugherty Gene: card14 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.90 ISCA-37468-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37468-Loss was changed from None to .
Source London North GLH was added to Region: ISCA-37468-Loss.
Early onset or syndromic epilepsy v1.331 GRIA2 Rebecca Foulger Source Wessex and West Midlands GLH was added to GRIA2.
Early onset or syndromic epilepsy v1.331 KMT5B Rebecca Foulger Source Wessex and West Midlands GLH was added to KMT5B.
Early onset or syndromic epilepsy v1.331 KCNH5 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNH5.
Early onset or syndromic epilepsy v1.331 KCND2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCND2.
Early onset or syndromic epilepsy v1.331 CSNK2A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to CSNK2A1.
Early onset or syndromic epilepsy v1.331 BCORL1 Rebecca Foulger Source Wessex and West Midlands GLH was added to BCORL1.
Early onset or syndromic epilepsy v1.331 ZNF142 Rebecca Foulger Source Wessex and West Midlands GLH was added to ZNF142.
Early onset or syndromic epilepsy v1.331 ZMIZ1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ZMIZ1.
Early onset or syndromic epilepsy v1.331 USP7 Rebecca Foulger Source Wessex and West Midlands GLH was added to USP7.
Early onset or syndromic epilepsy v1.331 TRRAP Rebecca Foulger Source Wessex and West Midlands GLH was added to TRRAP.
Early onset or syndromic epilepsy v1.331 TRPM3 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPM3.
Early onset or syndromic epilepsy v1.331 SLC35A3 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC35A3.
Early onset or syndromic epilepsy v1.331 RNF13 Rebecca Foulger Source Wessex and West Midlands GLH was added to RNF13.
Early onset or syndromic epilepsy v1.331 PAK1 Rebecca Foulger Source Wessex and West Midlands GLH was added to PAK1.
Early onset or syndromic epilepsy v1.331 NUS1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NUS1.
Early onset or syndromic epilepsy v1.331 LSS Rebecca Foulger Source Wessex and West Midlands GLH was added to LSS.
Early onset or syndromic epilepsy v1.331 FUK Rebecca Foulger Source Wessex and West Midlands GLH was added to FUK.
Early onset or syndromic epilepsy v1.331 CLCN6 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLCN6.
Early onset or syndromic epilepsy v1.331 AIMP2 Rebecca Foulger Source Wessex and West Midlands GLH was added to AIMP2.
Early onset or syndromic epilepsy v1.331 AFF3 Rebecca Foulger Source Wessex and West Midlands GLH was added to AFF3.
Early onset or syndromic epilepsy v1.331 ZDHHC9 Rebecca Foulger Source Wessex and West Midlands GLH was added to ZDHHC9.
Early onset or syndromic epilepsy v1.331 WARS2 Rebecca Foulger Source Wessex and West Midlands GLH was added to WARS2.
Early onset or syndromic epilepsy v1.331 VPS11 Rebecca Foulger Source Wessex and West Midlands GLH was added to VPS11.
Early onset or syndromic epilepsy v1.331 VAMP2 Rebecca Foulger Source Wessex and West Midlands GLH was added to VAMP2.
Early onset or syndromic epilepsy v1.331 SNAP25 Rebecca Foulger Source Wessex and West Midlands GLH was added to SNAP25.
Early onset or syndromic epilepsy v1.331 SMARCC2 Rebecca Foulger Source Wessex and West Midlands GLH was added to SMARCC2.
Early onset or syndromic epilepsy v1.331 PPP2CA Rebecca Foulger Source Wessex and West Midlands GLH was added to PPP2CA.
Early onset or syndromic epilepsy v1.331 PIGB Rebecca Foulger Source Wessex and West Midlands GLH was added to PIGB.
Early onset or syndromic epilepsy v1.331 PARS2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PARS2.
Early onset or syndromic epilepsy v1.331 P4HTM Rebecca Foulger Source Wessex and West Midlands GLH was added to P4HTM.
Early onset or syndromic epilepsy v1.331 NBEA Rebecca Foulger Source Wessex and West Midlands GLH was added to NBEA.
Early onset or syndromic epilepsy v1.331 KMT2E Rebecca Foulger Source Wessex and West Midlands GLH was added to KMT2E.
Early onset or syndromic epilepsy v1.331 KCNT2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNT2.
Early onset or syndromic epilepsy v1.331 DHPS Rebecca Foulger Source Wessex and West Midlands GLH was added to DHPS.
Early onset or syndromic epilepsy v1.331 DEGS1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DEGS1.
Early onset or syndromic epilepsy v1.331 CTNNA2 Rebecca Foulger Source Wessex and West Midlands GLH was added to CTNNA2.
Early onset or syndromic epilepsy v1.331 CACNA1B Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1B.
Early onset or syndromic epilepsy v1.331 ATN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATN1.
Early onset or syndromic epilepsy v1.331 AP2M1 Rebecca Foulger Source Wessex and West Midlands GLH was added to AP2M1.
Early onset or syndromic epilepsy v1.331 ALKBH8 Rebecca Foulger Source Wessex and West Midlands GLH was added to ALKBH8.
Early onset or syndromic epilepsy v1.331 ACTL6B Rebecca Foulger Source Wessex and West Midlands GLH was added to ACTL6B.
Early onset or syndromic epilepsy v1.330 GRIA2 Rebecca Foulger Source NHS GMS was added to GRIA2.
Early onset or syndromic epilepsy v1.330 KMT5B Rebecca Foulger Source NHS GMS was added to KMT5B.
Early onset or syndromic epilepsy v1.330 KCNH5 Rebecca Foulger Source NHS GMS was added to KCNH5.
Early onset or syndromic epilepsy v1.330 KCND2 Rebecca Foulger Source NHS GMS was added to KCND2.
Early onset or syndromic epilepsy v1.330 CSNK2A1 Rebecca Foulger Source NHS GMS was added to CSNK2A1.
Early onset or syndromic epilepsy v1.330 BCORL1 Rebecca Foulger Source NHS GMS was added to BCORL1.
Early onset or syndromic epilepsy v1.330 ZNF142 Rebecca Foulger Source NHS GMS was added to ZNF142.
Early onset or syndromic epilepsy v1.330 ZMIZ1 Rebecca Foulger Source NHS GMS was added to ZMIZ1.
Early onset or syndromic epilepsy v1.330 USP7 Rebecca Foulger Source NHS GMS was added to USP7.
Early onset or syndromic epilepsy v1.330 TRRAP Rebecca Foulger Source NHS GMS was added to TRRAP.
Early onset or syndromic epilepsy v1.330 TRPM3 Rebecca Foulger Source NHS GMS was added to TRPM3.
Early onset or syndromic epilepsy v1.330 SLC35A3 Rebecca Foulger Source NHS GMS was added to SLC35A3.
Early onset or syndromic epilepsy v1.330 RNF13 Rebecca Foulger Source NHS GMS was added to RNF13.
Early onset or syndromic epilepsy v1.330 PAK1 Rebecca Foulger Source NHS GMS was added to PAK1.
Early onset or syndromic epilepsy v1.330 NUS1 Rebecca Foulger Source NHS GMS was added to NUS1.
Early onset or syndromic epilepsy v1.330 LSS Rebecca Foulger Source NHS GMS was added to LSS.
Early onset or syndromic epilepsy v1.330 FUK Rebecca Foulger Source NHS GMS was added to FUK.
Early onset or syndromic epilepsy v1.330 CLCN6 Rebecca Foulger Source NHS GMS was added to CLCN6.
Early onset or syndromic epilepsy v1.330 AIMP2 Rebecca Foulger Source NHS GMS was added to AIMP2.
Early onset or syndromic epilepsy v1.330 AFF3 Rebecca Foulger Source NHS GMS was added to AFF3.
Early onset or syndromic epilepsy v1.330 ZDHHC9 Rebecca Foulger Source NHS GMS was added to ZDHHC9.
Early onset or syndromic epilepsy v1.330 WARS2 Rebecca Foulger Source NHS GMS was added to WARS2.
Early onset or syndromic epilepsy v1.330 VPS11 Rebecca Foulger Source NHS GMS was added to VPS11.
Early onset or syndromic epilepsy v1.330 VAMP2 Rebecca Foulger Source NHS GMS was added to VAMP2.
Early onset or syndromic epilepsy v1.330 SNAP25 Rebecca Foulger Source NHS GMS was added to SNAP25.
Early onset or syndromic epilepsy v1.330 SMARCC2 Rebecca Foulger Source NHS GMS was added to SMARCC2.
Early onset or syndromic epilepsy v1.330 PPP2CA Rebecca Foulger Source NHS GMS was added to PPP2CA.
Early onset or syndromic epilepsy v1.330 PIGB Rebecca Foulger Source NHS GMS was added to PIGB.
Early onset or syndromic epilepsy v1.330 PARS2 Rebecca Foulger Source NHS GMS was added to PARS2.
Early onset or syndromic epilepsy v1.330 P4HTM Rebecca Foulger Source NHS GMS was added to P4HTM.
Early onset or syndromic epilepsy v1.330 NBEA Rebecca Foulger Source NHS GMS was added to NBEA.
Early onset or syndromic epilepsy v1.330 KMT2E Rebecca Foulger Source NHS GMS was added to KMT2E.
Early onset or syndromic epilepsy v1.330 KCNT2 Rebecca Foulger Source NHS GMS was added to KCNT2.
Early onset or syndromic epilepsy v1.330 DHPS Rebecca Foulger Source NHS GMS was added to DHPS.
Early onset or syndromic epilepsy v1.330 DEGS1 Rebecca Foulger Source NHS GMS was added to DEGS1.
Early onset or syndromic epilepsy v1.330 CTNNA2 Rebecca Foulger Source NHS GMS was added to CTNNA2.
Early onset or syndromic epilepsy v1.330 CACNA1B Rebecca Foulger Source NHS GMS was added to CACNA1B.
Early onset or syndromic epilepsy v1.330 ATN1 Rebecca Foulger Source NHS GMS was added to ATN1.
Early onset or syndromic epilepsy v1.330 AP2M1 Rebecca Foulger Source NHS GMS was added to AP2M1.
Early onset or syndromic epilepsy v1.330 ALKBH8 Rebecca Foulger Source NHS GMS was added to ALKBH8.
Early onset or syndromic epilepsy v1.330 ACTL6B Rebecca Foulger Source NHS GMS was added to ACTL6B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZBTB24 Louise Daugherty commented on gene: ZBTB24: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZAP70 Louise Daugherty commented on gene: ZAP70: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 XIAP Louise Daugherty commented on gene: XIAP: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WIPF1 Louise Daugherty commented on gene: WIPF1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WAS Louise Daugherty commented on gene: WAS: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS45 Louise Daugherty commented on gene: VPS45: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS13B Louise Daugherty commented on gene: VPS13B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 USB1 Louise Daugherty commented on gene: USB1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNG Louise Daugherty commented on gene: UNG: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC93B1 Louise Daugherty commented on gene: UNC93B1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC13D Louise Daugherty commented on gene: UNC13D: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TYK2 Louise Daugherty commented on gene: TYK2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC7A Louise Daugherty commented on gene: TTC7A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Louise Daugherty commented on gene: TTC37: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRNT1 Louise Daugherty commented on gene: TRNT1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TREX1 Louise Daugherty commented on gene: TREX1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRAC Louise Daugherty commented on gene: TRAC: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TPP2 Louise Daugherty commented on gene: TPP2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFRSF1A Louise Daugherty commented on gene: TNFRSF1A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFAIP3 Louise Daugherty commented on gene: TNFAIP3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Louise Daugherty commented on gene: TMEM173: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC8 Louise Daugherty commented on gene: TMC8: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC6 Louise Daugherty commented on gene: TMC6: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TLR3 Louise Daugherty commented on gene: TLR3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TICAM1 Louise Daugherty commented on gene: TICAM1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCN2 Louise Daugherty commented on gene: TCN2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCF3 Louise Daugherty commented on gene: TCF3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TBK1 Louise Daugherty commented on gene: TBK1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAZ Louise Daugherty commented on gene: TAZ: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP2 Louise Daugherty commented on gene: TAP2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP1 Louise Daugherty commented on gene: TAP1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STXBP2 Louise Daugherty commented on gene: STXBP2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STX11 Louise Daugherty commented on gene: STX11: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STK4 Louise Daugherty commented on gene: STK4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STIM1 Louise Daugherty commented on gene: STIM1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT5B Louise Daugherty commented on gene: STAT5B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT3 Louise Daugherty commented on gene: STAT3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT2 Louise Daugherty commented on gene: STAT2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Louise Daugherty commented on gene: STAT1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPPL2A Louise Daugherty commented on gene: SPPL2A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPINK5 Louise Daugherty commented on gene: SPINK5: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SP110 Louise Daugherty commented on gene: SP110: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Louise Daugherty commented on gene: SMARCAL1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC46A1 Louise Daugherty commented on gene: SLC46A1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Louise Daugherty commented on gene: SLC37A4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Louise Daugherty commented on gene: SLC35C1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Louise Daugherty commented on gene: SLC29A3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SKIV2L Louise Daugherty commented on gene: SKIV2L: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SH2D1A Louise Daugherty commented on gene: SH2D1A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SGPL1 Louise Daugherty commented on gene: SGPL1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SERPING1 Louise Daugherty commented on gene: SERPING1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SBDS Louise Daugherty commented on gene: SBDS: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SAMHD1 Louise Daugherty commented on gene: SAMHD1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RTEL1 Louise Daugherty commented on gene: RTEL1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RPSA Louise Daugherty commented on gene: RPSA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RORC Louise Daugherty commented on gene: RORC: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNF168 Louise Daugherty commented on gene: RNF168: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2C Louise Daugherty commented on gene: RNASEH2C: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2B Louise Daugherty commented on gene: RNASEH2B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2A Louise Daugherty commented on gene: RNASEH2A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RMRP Louise Daugherty commented on gene: RMRP: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Louise Daugherty commented on gene: RIPK1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXAP Louise Daugherty commented on gene: RFXAP: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXANK Louise Daugherty commented on gene: RFXANK: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFX5 Louise Daugherty commented on gene: RFX5: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RBCK1 Louise Daugherty commented on gene: RBCK1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Louise Daugherty commented on gene: RASGRP1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG2 Louise Daugherty commented on gene: RAG2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG1 Louise Daugherty commented on gene: RAG1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAB27A Louise Daugherty commented on gene: RAB27A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PTPRC Louise Daugherty commented on gene: PTPRC: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSTPIP1 Louise Daugherty commented on gene: PSTPIP1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSMB8 Louise Daugherty commented on gene: PSMB8: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKDC Louise Daugherty commented on gene: PRKDC: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKCD Louise Daugherty commented on gene: PRKCD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRF1 Louise Daugherty commented on gene: PRF1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Louise Daugherty commented on gene: POLA1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PNP Louise Daugherty commented on gene: PNP: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PLCG2 Louise Daugherty commented on gene: PLCG2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3R1 Louise Daugherty commented on gene: PIK3R1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3CD Louise Daugherty commented on gene: PIK3CD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PGM3 Louise Daugherty commented on gene: PGM3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Louise Daugherty commented on gene: PEPD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PARN Louise Daugherty commented on gene: PARN: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 OTULIN Louise Daugherty commented on gene: OTULIN: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Louise Daugherty commented on gene: ORAI1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NSMCE3 Louise Daugherty commented on gene: NSMCE3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NRAS Louise Daugherty commented on gene: NRAS: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Louise Daugherty commented on gene: NOD2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Louise Daugherty commented on gene: NLRP3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Louise Daugherty commented on gene: NLRP12: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP1 Louise Daugherty commented on gene: NLRP1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Louise Daugherty commented on gene: NLRC4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHP2 Louise Daugherty commented on gene: NHP2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHEJ1 Louise Daugherty commented on gene: NHEJ1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKBIA Louise Daugherty commented on gene: NFKBIA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB2 Louise Daugherty commented on gene: NFKB2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB1 Louise Daugherty commented on gene: NFKB1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF4 Louise Daugherty commented on gene: NCF4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF2 Louise Daugherty commented on gene: NCF2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF1 Louise Daugherty commented on gene: NCF1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NBN Louise Daugherty commented on gene: NBN: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYSM1 Louise Daugherty commented on gene: MYSM1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYO5B Louise Daugherty commented on gene: MYO5B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYD88 Louise Daugherty commented on gene: MYD88: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MVK Louise Daugherty commented on gene: MVK: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MTHFD1 Louise Daugherty commented on gene: MTHFD1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MSN Louise Daugherty commented on gene: MSN: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MOGS Louise Daugherty commented on gene: MOGS: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MEFV Louise Daugherty commented on gene: MEFV: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MCM4 Louise Daugherty commented on gene: MCM4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAP3K14 Louise Daugherty commented on gene: MAP3K14: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MALT1 Louise Daugherty commented on gene: MALT1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAGT1 Louise Daugherty commented on gene: MAGT1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LYST Louise Daugherty commented on gene: LYST: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LRBA Louise Daugherty commented on gene: LRBA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Louise Daugherty commented on gene: LPIN2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LIG4 Louise Daugherty commented on gene: LIG4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LCK Louise Daugherty commented on gene: LCK: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAT Louise Daugherty commented on gene: LAT: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAMTOR2 Louise Daugherty commented on gene: LAMTOR2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAK3 Louise Daugherty commented on gene: JAK3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAGN1 Louise Daugherty commented on gene: JAGN1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITK Louise Daugherty commented on gene: ITK: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITGB2 Louise Daugherty commented on gene: ITGB2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITCH Louise Daugherty commented on gene: ITCH: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ISG15 Louise Daugherty commented on gene: ISG15: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRF8 Louise Daugherty commented on gene: IRF8: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRAK4 Louise Daugherty commented on gene: IRAK4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 INO80 Louise Daugherty commented on gene: INO80: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Louise Daugherty commented on gene: IL7R: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL36RN Louise Daugherty commented on gene: IL36RN: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RG Louise Daugherty commented on gene: IL2RG: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RA Louise Daugherty commented on gene: IL2RA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL21R Louise Daugherty commented on gene: IL21R: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL1RN Louise Daugherty commented on gene: IL1RN: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RC Louise Daugherty commented on gene: IL17RC: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RA Louise Daugherty commented on gene: IL17RA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12RB1 Louise Daugherty commented on gene: IL12RB1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12B Louise Daugherty commented on gene: IL12B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RB Louise Daugherty commented on gene: IL10RB: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RA Louise Daugherty commented on gene: IL10RA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10 Louise Daugherty commented on gene: IL10: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKZF1 Louise Daugherty commented on gene: IKZF1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKG Louise Daugherty commented on gene: IKBKG: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKB Louise Daugherty commented on gene: IKBKB: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGLL1 Louise Daugherty commented on gene: IGLL1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGHM Louise Daugherty commented on gene: IGHM: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR2 Louise Daugherty commented on gene: IFNGR2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR1 Louise Daugherty commented on gene: IFNGR1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFIH1 Louise Daugherty commented on gene: IFIH1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ICOS Louise Daugherty commented on gene: ICOS: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HTRA2 Louise Daugherty commented on gene: HTRA2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS6 Louise Daugherty commented on gene: HPS6: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Louise Daugherty commented on gene: HPS4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS1 Louise Daugherty commented on gene: HPS1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HELLS Louise Daugherty commented on gene: HELLS: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HAX1 Louise Daugherty commented on gene: HAX1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GINS1 Louise Daugherty commented on gene: GINS1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GFI1 Louise Daugherty commented on gene: GFI1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA2 Louise Daugherty commented on gene: GATA2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA1 Louise Daugherty commented on gene: GATA1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PD Louise Daugherty commented on gene: G6PD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Louise Daugherty commented on gene: G6PC3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXP3 Louise Daugherty commented on gene: FOXP3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXN1 Louise Daugherty commented on gene: FOXN1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FERMT3 Louise Daugherty commented on gene: FERMT3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAT4 Louise Daugherty commented on gene: FAT4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FASLG Louise Daugherty commented on gene: FASLG: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAS Louise Daugherty commented on gene: FAS: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Louise Daugherty commented on gene: FADD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 F12 Louise Daugherty commented on gene: F12: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Louise Daugherty commented on gene: EXTL3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Louise Daugherty commented on gene: ERCC6L2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Louise Daugherty commented on gene: EPG5: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ELANE Louise Daugherty commented on gene: ELANE: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK8 Louise Daugherty commented on gene: DOCK8: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK2 Louise Daugherty commented on gene: DOCK2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNMT3B Louise Daugherty commented on gene: DNMT3B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNASE2 Louise Daugherty commented on gene: DNASE2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNAJC21 Louise Daugherty commented on gene: DNAJC21: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DKC1 Louise Daugherty commented on gene: DKC1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1C Louise Daugherty commented on gene: DCLRE1C: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Louise Daugherty commented on gene: DCLRE1B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBB Louise Daugherty commented on gene: CYBB: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBA Louise Daugherty commented on gene: CYBA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CXCR4 Louise Daugherty commented on gene: CXCR4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTSC Louise Daugherty commented on gene: CTSC: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTPS1 Louise Daugherty commented on gene: CTPS1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTLA4 Louise Daugherty commented on gene: CTLA4: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF3R Louise Daugherty commented on gene: CSF3R: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RB Louise Daugherty commented on gene: CSF2RB: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Louise Daugherty commented on gene: CSF2RA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CORO1A Louise Daugherty commented on gene: CORO1A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 COPA Louise Daugherty commented on gene: COPA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CLPB Louise Daugherty commented on gene: CLPB: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CIITA Louise Daugherty commented on gene: CIITA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CHD7 Louise Daugherty commented on gene: CHD7: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFP Louise Daugherty commented on gene: CFP: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFI Louise Daugherty commented on gene: CFI: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Louise Daugherty commented on gene: CFH: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFD Louise Daugherty commented on gene: CFD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFB Louise Daugherty commented on gene: CFB: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Louise Daugherty commented on gene: CEBPE: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CDCA7 Louise Daugherty commented on gene: CDCA7: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79B Louise Daugherty commented on gene: CD79B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79A Louise Daugherty commented on gene: CD79A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD70 Louise Daugherty commented on gene: CD70: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD59 Louise Daugherty commented on gene: CD59: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD55 Louise Daugherty commented on gene: CD55: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD46 Louise Daugherty commented on gene: CD46: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40LG Louise Daugherty commented on gene: CD40LG: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40 Louise Daugherty commented on gene: CD40: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3G Louise Daugherty commented on gene: CD3G: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3E Louise Daugherty commented on gene: CD3E: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3D Louise Daugherty commented on gene: CD3D: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Louise Daugherty commented on gene: CD27: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD19 Louise Daugherty commented on gene: CD19: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Louise Daugherty commented on gene: CCBE1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP8 Louise Daugherty commented on gene: CASP8: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Louise Daugherty commented on gene: CASP10: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARMIL2 Louise Daugherty commented on gene: CARMIL2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD9 Louise Daugherty commented on gene: CARD9: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Louise Daugherty commented on gene: CARD14: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD11 Louise Daugherty commented on gene: CARD11: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C9 Louise Daugherty commented on gene: C9: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8B Louise Daugherty commented on gene: C8B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8A Louise Daugherty commented on gene: C8A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C7 Louise Daugherty commented on gene: C7: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Louise Daugherty commented on gene: C6: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C5 Louise Daugherty commented on gene: C5: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4B Louise Daugherty commented on gene: C4B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4A Louise Daugherty commented on gene: C4A: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Louise Daugherty commented on gene: C3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C2 Louise Daugherty commented on gene: C2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Louise Daugherty commented on gene: C1S: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1R Louise Daugherty commented on gene: C1R: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QC Louise Daugherty commented on gene: C1QC: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QB Louise Daugherty commented on gene: C1QB: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QA Louise Daugherty commented on gene: C1QA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BTK Louise Daugherty commented on gene: BTK: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLNK Louise Daugherty commented on gene: BLNK: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLM Louise Daugherty commented on gene: BLM: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BACH2 Louise Daugherty commented on gene: BACH2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Louise Daugherty commented on gene: B2M: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATP6AP1 Louise Daugherty commented on gene: ATP6AP1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATM Louise Daugherty commented on gene: ATM: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Louise Daugherty commented on gene: ARPC1B: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AP3B1 Louise Daugherty commented on gene: AP3B1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AK2 Louise Daugherty commented on gene: AK2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AIRE Louise Daugherty commented on gene: AIRE: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Louise Daugherty commented on gene: AICDA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADAR Louise Daugherty commented on gene: ADAR: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA2 Louise Daugherty commented on gene: ADA2: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA Louise Daugherty commented on gene: ADA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACP5 Louise Daugherty commented on gene: ACP5: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACD Louise Daugherty commented on gene: ACD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZBTB24 Louise Daugherty edited their review of gene: ZBTB24: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZAP70 Louise Daugherty commented on gene: ZAP70: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 XIAP Louise Daugherty commented on gene: XIAP: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WIPF1 Louise Daugherty commented on gene: WIPF1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WAS Louise Daugherty commented on gene: WAS: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS45 Louise Daugherty commented on gene: VPS45: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS13B Louise Daugherty commented on gene: VPS13B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 USB1 Louise Daugherty commented on gene: USB1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNG Louise Daugherty commented on gene: UNG: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC93B1 Louise Daugherty commented on gene: UNC93B1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC13D Louise Daugherty commented on gene: UNC13D: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TYK2 Louise Daugherty commented on gene: TYK2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC7A Louise Daugherty commented on gene: TTC7A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Louise Daugherty commented on gene: TTC37: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRNT1 Louise Daugherty commented on gene: TRNT1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TREX1 Louise Daugherty commented on gene: TREX1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRAC Louise Daugherty commented on gene: TRAC: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TPP2 Louise Daugherty commented on gene: TPP2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFRSF1A Louise Daugherty commented on gene: TNFRSF1A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFAIP3 Louise Daugherty commented on gene: TNFAIP3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Louise Daugherty edited their review of gene: TMEM173: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC8 Louise Daugherty commented on gene: TMC8: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC6 Louise Daugherty commented on gene: TMC6: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TLR3 Louise Daugherty commented on gene: TLR3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TICAM1 Louise Daugherty commented on gene: TICAM1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCN2 Louise Daugherty commented on gene: TCN2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCF3 Louise Daugherty commented on gene: TCF3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TBK1 Louise Daugherty commented on gene: TBK1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAZ Louise Daugherty commented on gene: TAZ: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP2 Louise Daugherty commented on gene: TAP2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP1 Louise Daugherty commented on gene: TAP1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STXBP2 Louise Daugherty commented on gene: STXBP2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STX11 Louise Daugherty commented on gene: STX11: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STK4 Louise Daugherty commented on gene: STK4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STIM1 Louise Daugherty commented on gene: STIM1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT5B Louise Daugherty commented on gene: STAT5B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT3 Louise Daugherty edited their review of gene: STAT3: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT2 Louise Daugherty commented on gene: STAT2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Louise Daugherty edited their review of gene: STAT1: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPPL2A Louise Daugherty commented on gene: SPPL2A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPINK5 Louise Daugherty commented on gene: SPINK5: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SP110 Louise Daugherty commented on gene: SP110: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Louise Daugherty commented on gene: SMARCAL1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC46A1 Louise Daugherty commented on gene: SLC46A1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Louise Daugherty commented on gene: SLC37A4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Louise Daugherty commented on gene: SLC35C1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Louise Daugherty commented on gene: SLC29A3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SKIV2L Louise Daugherty commented on gene: SKIV2L: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SH2D1A Louise Daugherty commented on gene: SH2D1A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SGPL1 Louise Daugherty edited their review of gene: SGPL1: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SERPING1 Louise Daugherty commented on gene: SERPING1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SBDS Louise Daugherty commented on gene: SBDS: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SAMHD1 Louise Daugherty commented on gene: SAMHD1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RTEL1 Louise Daugherty commented on gene: RTEL1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RPSA Louise Daugherty commented on gene: RPSA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RORC Louise Daugherty commented on gene: RORC: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNF168 Louise Daugherty commented on gene: RNF168: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2C Louise Daugherty commented on gene: RNASEH2C: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2B Louise Daugherty commented on gene: RNASEH2B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2A Louise Daugherty commented on gene: RNASEH2A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RMRP Louise Daugherty commented on gene: RMRP: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Louise Daugherty commented on gene: RIPK1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXAP Louise Daugherty commented on gene: RFXAP: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXANK Louise Daugherty commented on gene: RFXANK: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFX5 Louise Daugherty commented on gene: RFX5: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RBCK1 Louise Daugherty commented on gene: RBCK1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Louise Daugherty edited their review of gene: RASGRP1: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG2 Louise Daugherty commented on gene: RAG2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG1 Louise Daugherty commented on gene: RAG1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAB27A Louise Daugherty commented on gene: RAB27A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PTPRC Louise Daugherty commented on gene: PTPRC: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSTPIP1 Louise Daugherty commented on gene: PSTPIP1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSMB8 Louise Daugherty commented on gene: PSMB8: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKDC Louise Daugherty commented on gene: PRKDC: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKCD Louise Daugherty commented on gene: PRKCD: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRF1 Louise Daugherty commented on gene: PRF1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Louise Daugherty reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PNP Louise Daugherty commented on gene: PNP: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PLCG2 Louise Daugherty commented on gene: PLCG2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3R1 Louise Daugherty commented on gene: PIK3R1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3CD Louise Daugherty commented on gene: PIK3CD: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PGM3 Louise Daugherty commented on gene: PGM3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Louise Daugherty edited their review of gene: PEPD: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PARN Louise Daugherty commented on gene: PARN: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 OTULIN Louise Daugherty reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Louise Daugherty commented on gene: ORAI1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NSMCE3 Louise Daugherty edited their review of gene: NSMCE3: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NRAS Louise Daugherty edited their review of gene: NRAS: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Louise Daugherty commented on gene: NOD2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Louise Daugherty commented on gene: NLRP3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Louise Daugherty commented on gene: NLRP12: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP1 Louise Daugherty edited their review of gene: NLRP1: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Louise Daugherty commented on gene: NLRC4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHP2 Louise Daugherty commented on gene: NHP2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHEJ1 Louise Daugherty commented on gene: NHEJ1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKBIA Louise Daugherty commented on gene: NFKBIA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB2 Louise Daugherty commented on gene: NFKB2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB1 Louise Daugherty commented on gene: NFKB1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF4 Louise Daugherty commented on gene: NCF4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF2 Louise Daugherty commented on gene: NCF2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF1 Louise Daugherty commented on gene: NCF1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NBN Louise Daugherty commented on gene: NBN: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYSM1 Louise Daugherty commented on gene: MYSM1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYO5B Louise Daugherty edited their review of gene: MYO5B: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYD88 Louise Daugherty commented on gene: MYD88: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MVK Louise Daugherty commented on gene: MVK: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MTHFD1 Louise Daugherty commented on gene: MTHFD1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MSN Louise Daugherty commented on gene: MSN: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MOGS Louise Daugherty commented on gene: MOGS: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MEFV Louise Daugherty commented on gene: MEFV: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MCM4 Louise Daugherty commented on gene: MCM4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAP3K14 Louise Daugherty commented on gene: MAP3K14: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MALT1 Louise Daugherty commented on gene: MALT1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAGT1 Louise Daugherty commented on gene: MAGT1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LYST Louise Daugherty commented on gene: LYST: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LRBA Louise Daugherty commented on gene: LRBA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Louise Daugherty commented on gene: LPIN2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LIG4 Louise Daugherty commented on gene: LIG4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LCK Louise Daugherty commented on gene: LCK: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAT Louise Daugherty commented on gene: LAT: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAMTOR2 Louise Daugherty commented on gene: LAMTOR2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAK3 Louise Daugherty commented on gene: JAK3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAGN1 Louise Daugherty commented on gene: JAGN1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITK Louise Daugherty commented on gene: ITK: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITGB2 Louise Daugherty commented on gene: ITGB2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITCH Louise Daugherty commented on gene: ITCH: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ISG15 Louise Daugherty commented on gene: ISG15: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRF8 Louise Daugherty edited their review of gene: IRF8: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRAK4 Louise Daugherty commented on gene: IRAK4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 INO80 Louise Daugherty commented on gene: INO80: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Louise Daugherty commented on gene: IL7R: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL36RN Louise Daugherty commented on gene: IL36RN: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RG Louise Daugherty commented on gene: IL2RG: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RA Louise Daugherty commented on gene: IL2RA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL21R Louise Daugherty commented on gene: IL21R: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL1RN Louise Daugherty commented on gene: IL1RN: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RC Louise Daugherty commented on gene: IL17RC: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RA Louise Daugherty commented on gene: IL17RA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12RB1 Louise Daugherty commented on gene: IL12RB1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12B Louise Daugherty commented on gene: IL12B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RB Louise Daugherty commented on gene: IL10RB: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RA Louise Daugherty commented on gene: IL10RA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10 Louise Daugherty commented on gene: IL10: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKZF1 Louise Daugherty commented on gene: IKZF1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKG Louise Daugherty commented on gene: IKBKG: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKB Louise Daugherty commented on gene: IKBKB: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGLL1 Louise Daugherty commented on gene: IGLL1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGHM Louise Daugherty commented on gene: IGHM: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR2 Louise Daugherty commented on gene: IFNGR2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR1 Louise Daugherty commented on gene: IFNGR1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFIH1 Louise Daugherty commented on gene: IFIH1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ICOS Louise Daugherty commented on gene: ICOS: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HTRA2 Louise Daugherty edited their review of gene: HTRA2: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS6 Louise Daugherty edited their review of gene: HPS6: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Louise Daugherty edited their review of gene: HPS4: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS1 Louise Daugherty edited their review of gene: HPS1: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HELLS Louise Daugherty commented on gene: HELLS: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HAX1 Louise Daugherty commented on gene: HAX1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GINS1 Louise Daugherty commented on gene: GINS1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GFI1 Louise Daugherty commented on gene: GFI1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA2 Louise Daugherty commented on gene: GATA2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA1 Louise Daugherty edited their review of gene: GATA1: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PD Louise Daugherty commented on gene: G6PD: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Louise Daugherty commented on gene: G6PC3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXP3 Louise Daugherty commented on gene: FOXP3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXN1 Louise Daugherty commented on gene: FOXN1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FERMT3 Louise Daugherty commented on gene: FERMT3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAT4 Louise Daugherty edited their review of gene: FAT4: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FASLG Louise Daugherty commented on gene: FASLG: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAS Louise Daugherty commented on gene: FAS: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Louise Daugherty commented on gene: FADD: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 F12 Louise Daugherty commented on gene: F12: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Louise Daugherty reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Louise Daugherty edited their review of gene: ERCC6L2: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Louise Daugherty commented on gene: EPG5: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ELANE Louise Daugherty commented on gene: ELANE: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK8 Louise Daugherty commented on gene: DOCK8: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK2 Louise Daugherty commented on gene: DOCK2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNMT3B Louise Daugherty commented on gene: DNMT3B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNASE2 Louise Daugherty edited their review of gene: DNASE2: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNAJC21 Louise Daugherty edited their review of gene: DNAJC21: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DKC1 Louise Daugherty commented on gene: DKC1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1C Louise Daugherty commented on gene: DCLRE1C: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Louise Daugherty commented on gene: DCLRE1B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBB Louise Daugherty edited their review of gene: CYBB: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBA Louise Daugherty commented on gene: CYBA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CXCR4 Louise Daugherty commented on gene: CXCR4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTSC Louise Daugherty commented on gene: CTSC: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTPS1 Louise Daugherty commented on gene: CTPS1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTLA4 Louise Daugherty commented on gene: CTLA4: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF3R Louise Daugherty commented on gene: CSF3R: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RB Louise Daugherty edited their review of gene: CSF2RB: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Louise Daugherty commented on gene: CSF2RA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CORO1A Louise Daugherty commented on gene: CORO1A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 COPA Louise Daugherty commented on gene: COPA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CLPB Louise Daugherty commented on gene: CLPB: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CIITA Louise Daugherty commented on gene: CIITA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CHD7 Louise Daugherty commented on gene: CHD7: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFP Louise Daugherty commented on gene: CFP: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFI Louise Daugherty commented on gene: CFI: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Louise Daugherty commented on gene: CFH: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFD Louise Daugherty commented on gene: CFD: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFB Louise Daugherty edited their review of gene: CFB: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Louise Daugherty commented on gene: CEBPE: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CDCA7 Louise Daugherty commented on gene: CDCA7: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79B Louise Daugherty commented on gene: CD79B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79A Louise Daugherty commented on gene: CD79A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD70 Louise Daugherty commented on gene: CD70: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD59 Louise Daugherty commented on gene: CD59: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD55 Louise Daugherty commented on gene: CD55: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD46 Louise Daugherty commented on gene: CD46: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40LG Louise Daugherty commented on gene: CD40LG: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40 Louise Daugherty commented on gene: CD40: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3G Louise Daugherty commented on gene: CD3G: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3E Louise Daugherty commented on gene: CD3E: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3D Louise Daugherty commented on gene: CD3D: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Louise Daugherty commented on gene: CD27: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD19 Louise Daugherty commented on gene: CD19: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Louise Daugherty commented on gene: CCBE1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP8 Louise Daugherty commented on gene: CASP8: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Louise Daugherty commented on gene: CASP10: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARMIL2 Louise Daugherty commented on gene: CARMIL2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD9 Louise Daugherty commented on gene: CARD9: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Louise Daugherty edited their review of gene: CARD14: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD11 Louise Daugherty commented on gene: CARD11: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C9 Louise Daugherty commented on gene: C9: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8B Louise Daugherty commented on gene: C8B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8A Louise Daugherty commented on gene: C8A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C7 Louise Daugherty commented on gene: C7: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Louise Daugherty commented on gene: C6: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C5 Louise Daugherty commented on gene: C5: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4B Louise Daugherty commented on gene: C4B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4A Louise Daugherty commented on gene: C4A: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Louise Daugherty commented on gene: C3: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C2 Louise Daugherty commented on gene: C2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Louise Daugherty commented on gene: C1S: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1R Louise Daugherty commented on gene: C1R: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QC Louise Daugherty commented on gene: C1QC: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QB Louise Daugherty commented on gene: C1QB: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QA Louise Daugherty commented on gene: C1QA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BTK Louise Daugherty commented on gene: BTK: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLNK Louise Daugherty commented on gene: BLNK: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLM Louise Daugherty commented on gene: BLM: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BACH2 Louise Daugherty edited their review of gene: BACH2: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Louise Daugherty commented on gene: B2M: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATP6AP1 Louise Daugherty commented on gene: ATP6AP1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATM Louise Daugherty commented on gene: ATM: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Louise Daugherty commented on gene: ARPC1B: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AP3B1 Louise Daugherty commented on gene: AP3B1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AK2 Louise Daugherty commented on gene: AK2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AIRE Louise Daugherty commented on gene: AIRE: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Louise Daugherty commented on gene: AICDA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADAR Louise Daugherty commented on gene: ADAR: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA2 Louise Daugherty commented on gene: ADA2: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA Louise Daugherty commented on gene: ADA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACP5 Louise Daugherty commented on gene: ACP5: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACD Louise Daugherty edited their review of gene: ACD: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZBTB24 Kimberly Gilmour reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZAP70 Kimberly Gilmour commented on gene: ZAP70: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 XIAP Kimberly Gilmour reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WIPF1 Kimberly Gilmour reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WAS Kimberly Gilmour reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS45 Kimberly Gilmour reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS13B Kimberly Gilmour reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 USB1 Kimberly Gilmour reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNG Kimberly Gilmour reviewed gene: UNG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC93B1 Kimberly Gilmour reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC13D Kimberly Gilmour reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TYK2 Kimberly Gilmour reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC7A Kimberly Gilmour reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Kimberly Gilmour reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRNT1 Kimberly Gilmour reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TREX1 Kimberly Gilmour reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRAC Kimberly Gilmour reviewed gene: TRAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TPP2 Kimberly Gilmour reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFRSF1A Kimberly Gilmour reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFAIP3 Kimberly Gilmour reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Kimberly Gilmour reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC8 Kimberly Gilmour reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC6 Kimberly Gilmour reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TLR3 Kimberly Gilmour reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TICAM1 Kimberly Gilmour reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCN2 Kimberly Gilmour reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCF3 Kimberly Gilmour reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TBK1 Kimberly Gilmour reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAZ Kimberly Gilmour reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP2 Kimberly Gilmour reviewed gene: TAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP1 Kimberly Gilmour reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STXBP2 Kimberly Gilmour reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STX11 Kimberly Gilmour reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STK4 Kimberly Gilmour reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STIM1 Kimberly Gilmour edited their review of gene: STIM1: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT5B Kimberly Gilmour edited their review of gene: STAT5B: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT3 Kimberly Gilmour reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT2 Kimberly Gilmour reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Kimberly Gilmour reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPPL2A Kimberly Gilmour reviewed gene: SPPL2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPINK5 Kimberly Gilmour reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SP110 Kimberly Gilmour reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Kimberly Gilmour reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC46A1 Kimberly Gilmour reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Kimberly Gilmour reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Kimberly Gilmour reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Kimberly Gilmour reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SKIV2L Kimberly Gilmour reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SH2D1A Kimberly Gilmour reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SGPL1 Kimberly Gilmour reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SERPING1 Kimberly Gilmour reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SBDS Kimberly Gilmour reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SAMHD1 Kimberly Gilmour reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RTEL1 Kimberly Gilmour reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RPSA Kimberly Gilmour reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RORC Kimberly Gilmour reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNF168 Kimberly Gilmour reviewed gene: RNF168: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2C Kimberly Gilmour reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2B Kimberly Gilmour reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2A Kimberly Gilmour reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RMRP Kimberly Gilmour reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Kimberly Gilmour reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXAP Kimberly Gilmour reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXANK Kimberly Gilmour reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFX5 Kimberly Gilmour reviewed gene: RFX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RBCK1 Kimberly Gilmour reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Kimberly Gilmour reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG2 Kimberly Gilmour commented on gene: RAG2: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG1 Kimberly Gilmour commented on gene: RAG1: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAB27A Kimberly Gilmour reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PTPRC Kimberly Gilmour commented on gene: PTPRC: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSTPIP1 Kimberly Gilmour reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSMB8 Kimberly Gilmour reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKDC Kimberly Gilmour commented on gene: PRKDC: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKCD Kimberly Gilmour reviewed gene: PRKCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRF1 Kimberly Gilmour reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Kimberly Gilmour reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PNP Kimberly Gilmour commented on gene: PNP: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PLCG2 Kimberly Gilmour reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3R1 Kimberly Gilmour reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3CD Kimberly Gilmour reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PGM3 Kimberly Gilmour reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Kimberly Gilmour reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PARN Kimberly Gilmour reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 OTULIN Kimberly Gilmour reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Kimberly Gilmour edited their review of gene: ORAI1: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NSMCE3 Kimberly Gilmour reviewed gene: NSMCE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NRAS Kimberly Gilmour reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Kimberly Gilmour reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Kimberly Gilmour reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Kimberly Gilmour reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP1 Kimberly Gilmour reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Kimberly Gilmour reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHP2 Kimberly Gilmour reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHEJ1 Kimberly Gilmour commented on gene: NHEJ1: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKBIA Kimberly Gilmour reviewed gene: NFKBIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB2 Kimberly Gilmour reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB1 Kimberly Gilmour reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF4 Kimberly Gilmour reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF2 Kimberly Gilmour reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF1 Kimberly Gilmour reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NBN Kimberly Gilmour reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYSM1 Kimberly Gilmour reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYO5B Kimberly Gilmour reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYD88 Kimberly Gilmour reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MVK Kimberly Gilmour reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MTHFD1 Kimberly Gilmour reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MSN Kimberly Gilmour reviewed gene: MSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MOGS Kimberly Gilmour reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MEFV Kimberly Gilmour reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MCM4 Kimberly Gilmour reviewed gene: MCM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAP3K14 Kimberly Gilmour reviewed gene: MAP3K14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MALT1 Kimberly Gilmour reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAGT1 Kimberly Gilmour reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LYST Kimberly Gilmour reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LRBA Kimberly Gilmour reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Kimberly Gilmour reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LIG4 Kimberly Gilmour commented on gene: LIG4: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LCK Kimberly Gilmour reviewed gene: LCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAT Kimberly Gilmour reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAMTOR2 Kimberly Gilmour reviewed gene: LAMTOR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAK3 Kimberly Gilmour commented on gene: JAK3: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAGN1 Kimberly Gilmour reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITK Kimberly Gilmour reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITGB2 Kimberly Gilmour reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITCH Kimberly Gilmour reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ISG15 Kimberly Gilmour reviewed gene: ISG15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRF8 Kimberly Gilmour reviewed gene: IRF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRAK4 Kimberly Gilmour reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 INO80 Kimberly Gilmour reviewed gene: INO80: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Kimberly Gilmour commented on gene: IL7R: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL36RN Kimberly Gilmour reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RG Kimberly Gilmour commented on gene: IL2RG: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RA Kimberly Gilmour reviewed gene: IL2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL21R Kimberly Gilmour reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL1RN Kimberly Gilmour reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RC Kimberly Gilmour reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RA Kimberly Gilmour reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12RB1 Kimberly Gilmour reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12B Kimberly Gilmour reviewed gene: IL12B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RB Kimberly Gilmour reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RA Kimberly Gilmour reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10 Kimberly Gilmour reviewed gene: IL10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKZF1 Kimberly Gilmour reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKG Kimberly Gilmour reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKB Kimberly Gilmour reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGLL1 Kimberly Gilmour reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGHM Kimberly Gilmour reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR2 Kimberly Gilmour reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR1 Kimberly Gilmour reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFIH1 Kimberly Gilmour reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ICOS Kimberly Gilmour reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HTRA2 Kimberly Gilmour reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS6 Kimberly Gilmour reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Kimberly Gilmour reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS1 Kimberly Gilmour reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HELLS Kimberly Gilmour reviewed gene: HELLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HAX1 Kimberly Gilmour reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GINS1 Kimberly Gilmour reviewed gene: GINS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GFI1 Kimberly Gilmour reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA2 Kimberly Gilmour reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA1 Kimberly Gilmour reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PD Kimberly Gilmour reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Kimberly Gilmour reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXP3 Kimberly Gilmour reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXN1 Kimberly Gilmour edited their review of gene: FOXN1: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FERMT3 Kimberly Gilmour reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAT4 Kimberly Gilmour reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FASLG Kimberly Gilmour reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAS Kimberly Gilmour reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Kimberly Gilmour reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 F12 Kimberly Gilmour reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Kimberly Gilmour reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Kimberly Gilmour reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Kimberly Gilmour reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ELANE Kimberly Gilmour reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK8 Kimberly Gilmour reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK2 Kimberly Gilmour reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNMT3B Kimberly Gilmour reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNASE2 Kimberly Gilmour reviewed gene: DNASE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNAJC21 Kimberly Gilmour reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DKC1 Kimberly Gilmour reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1C Kimberly Gilmour commented on gene: DCLRE1C: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Kimberly Gilmour reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBB Kimberly Gilmour reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBA Kimberly Gilmour reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CXCR4 Kimberly Gilmour reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTSC Kimberly Gilmour reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTPS1 Kimberly Gilmour reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTLA4 Kimberly Gilmour reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF3R Kimberly Gilmour reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RB Kimberly Gilmour reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Kimberly Gilmour reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CORO1A Kimberly Gilmour reviewed gene: CORO1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 COPA Kimberly Gilmour reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CLPB Kimberly Gilmour reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CIITA Kimberly Gilmour reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CHD7 Kimberly Gilmour reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFP Kimberly Gilmour reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFI Kimberly Gilmour reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Kimberly Gilmour reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFD Kimberly Gilmour reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFB Kimberly Gilmour reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Kimberly Gilmour reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CDCA7 Kimberly Gilmour reviewed gene: CDCA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79B Kimberly Gilmour reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79A Kimberly Gilmour reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD70 Kimberly Gilmour reviewed gene: CD70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD59 Kimberly Gilmour reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD55 Kimberly Gilmour reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD46 Kimberly Gilmour reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40LG Kimberly Gilmour reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40 Kimberly Gilmour reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3G Kimberly Gilmour reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3E Kimberly Gilmour commented on gene: CD3E: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3D Kimberly Gilmour commented on gene: CD3D: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Kimberly Gilmour reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD19 Kimberly Gilmour reviewed gene: CD19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Kimberly Gilmour reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP8 Kimberly Gilmour reviewed gene: CASP8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Kimberly Gilmour reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARMIL2 Kimberly Gilmour reviewed gene: CARMIL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD9 Kimberly Gilmour reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Kimberly Gilmour reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD11 Kimberly Gilmour reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C9 Kimberly Gilmour reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8B Kimberly Gilmour reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8A Kimberly Gilmour reviewed gene: C8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C7 Kimberly Gilmour reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Kimberly Gilmour reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C5 Kimberly Gilmour reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4B Kimberly Gilmour reviewed gene: C4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4A Kimberly Gilmour reviewed gene: C4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Kimberly Gilmour reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C2 Kimberly Gilmour reviewed gene: C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Kimberly Gilmour reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1R Kimberly Gilmour reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QC Kimberly Gilmour reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QB Kimberly Gilmour reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QA Kimberly Gilmour reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BTK Kimberly Gilmour reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLNK Kimberly Gilmour reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLM Kimberly Gilmour reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BACH2 Kimberly Gilmour reviewed gene: BACH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Kimberly Gilmour reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATP6AP1 Kimberly Gilmour reviewed gene: ATP6AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATM Kimberly Gilmour reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Kimberly Gilmour reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AP3B1 Kimberly Gilmour reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AK2 Kimberly Gilmour commented on gene: AK2: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AIRE Kimberly Gilmour reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Kimberly Gilmour reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADAR Kimberly Gilmour reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA2 Kimberly Gilmour reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA Kimberly Gilmour commented on gene: ADA: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACP5 Kimberly Gilmour reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACD Kimberly Gilmour reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZBTB24 Tracy Briggs reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ZAP70 Tracy Briggs reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 XIAP Tracy Briggs reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WIPF1 Tracy Briggs reviewed gene: WIPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 WAS Tracy Briggs commented on gene: WAS: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS45 Tracy Briggs commented on gene: VPS45: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 VPS13B Tracy Briggs reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 USB1 Tracy Briggs reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNG Tracy Briggs reviewed gene: UNG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC93B1 Tracy Briggs reviewed gene: UNC93B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 UNC13D Tracy Briggs reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TYK2 Tracy Briggs reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC7A Tracy Briggs reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TTC37 Tracy Briggs reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRNT1 Tracy Briggs reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TREX1 Tracy Briggs reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TRAC Tracy Briggs reviewed gene: TRAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TPP2 Tracy Briggs reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFRSF1A Tracy Briggs reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TNFAIP3 Tracy Briggs reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Tracy Briggs reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC8 Tracy Briggs reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC6 Tracy Briggs reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TLR3 Tracy Briggs reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TICAM1 Tracy Briggs reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCN2 Tracy Briggs reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TCF3 Tracy Briggs reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TBK1 Tracy Briggs reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAZ Tracy Briggs reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP2 Tracy Briggs reviewed gene: TAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TAP1 Tracy Briggs reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STXBP2 Tracy Briggs reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STX11 Tracy Briggs reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STK4 Tracy Briggs reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STIM1 Tracy Briggs reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT5B Tracy Briggs reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT3 Tracy Briggs reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT2 Tracy Briggs reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 STAT1 Tracy Briggs reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPPL2A Tracy Briggs reviewed gene: SPPL2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SPINK5 Tracy Briggs reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SP110 Tracy Briggs reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Tracy Briggs reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC46A1 Tracy Briggs reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC37A4 Tracy Briggs reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC35C1 Tracy Briggs reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SLC29A3 Tracy Briggs reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SKIV2L Tracy Briggs reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SH2D1A Tracy Briggs reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SGPL1 Tracy Briggs reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SERPING1 Tracy Briggs reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SBDS Tracy Briggs reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SAMHD1 Tracy Briggs reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RTEL1 Tracy Briggs reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RPSA Tracy Briggs reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RORC Tracy Briggs reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNF168 Tracy Briggs reviewed gene: RNF168: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2C Tracy Briggs reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2B Tracy Briggs reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RNASEH2A Tracy Briggs reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RMRP Tracy Briggs reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RIPK1 Tracy Briggs reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXAP Tracy Briggs reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFXANK Tracy Briggs reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RFX5 Tracy Briggs reviewed gene: RFX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RBCK1 Tracy Briggs reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RASGRP1 Tracy Briggs reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG2 Tracy Briggs commented on gene: RAG2: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAG1 Tracy Briggs commented on gene: RAG1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 RAB27A Tracy Briggs reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PTPRC Tracy Briggs commented on gene: PTPRC: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSTPIP1 Tracy Briggs reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PSMB8 Tracy Briggs reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKDC Tracy Briggs reviewed gene: PRKDC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRKCD Tracy Briggs reviewed gene: PRKCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PRF1 Tracy Briggs reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 POLA1 Tracy Briggs reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PNP Tracy Briggs commented on gene: PNP: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PLCG2 Tracy Briggs reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3R1 Tracy Briggs commented on gene: PIK3R1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PIK3CD Tracy Briggs commented on gene: PIK3CD: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PGM3 Tracy Briggs reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PEPD Tracy Briggs reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 PARN Tracy Briggs reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 OTULIN Tracy Briggs reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ORAI1 Tracy Briggs reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NSMCE3 Tracy Briggs reviewed gene: NSMCE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NRAS Tracy Briggs reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NOD2 Tracy Briggs reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP3 Tracy Briggs reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Tracy Briggs reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP1 Tracy Briggs reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRC4 Tracy Briggs reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHP2 Tracy Briggs reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NHEJ1 Tracy Briggs commented on gene: NHEJ1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKBIA Tracy Briggs reviewed gene: NFKBIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB2 Tracy Briggs reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NFKB1 Tracy Briggs reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF4 Tracy Briggs reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF2 Tracy Briggs reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NCF1 Tracy Briggs reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NBN Tracy Briggs reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYSM1 Tracy Briggs reviewed gene: MYSM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYO5B Tracy Briggs reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MYD88 Tracy Briggs edited their review of gene: MYD88: Added comment: YES- this is covered on our targeted exome; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MVK Tracy Briggs reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MTHFD1 Tracy Briggs reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MSN Tracy Briggs reviewed gene: MSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MOGS Tracy Briggs reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MEFV Tracy Briggs reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MCM4 Tracy Briggs reviewed gene: MCM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAP3K14 Tracy Briggs reviewed gene: MAP3K14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MALT1 Tracy Briggs reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 MAGT1 Tracy Briggs reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LYST Tracy Briggs reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LRBA Tracy Briggs reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LPIN2 Tracy Briggs reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LIG4 Tracy Briggs commented on gene: LIG4: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LCK Tracy Briggs reviewed gene: LCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAT Tracy Briggs reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 LAMTOR2 Tracy Briggs reviewed gene: LAMTOR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAK3 Tracy Briggs commented on gene: JAK3: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 JAGN1 Tracy Briggs reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITK Tracy Briggs reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITGB2 Tracy Briggs reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ITCH Tracy Briggs reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ISG15 Tracy Briggs reviewed gene: ISG15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRF8 Tracy Briggs reviewed gene: IRF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IRAK4 Tracy Briggs reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 INO80 Tracy Briggs reviewed gene: INO80: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Tracy Briggs commented on gene: IL7R: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL36RN Tracy Briggs reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RG Tracy Briggs commented on gene: IL2RG: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL2RA Tracy Briggs reviewed gene: IL2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL21R Tracy Briggs reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL1RN Tracy Briggs reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RC Tracy Briggs reviewed gene: IL17RC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL17RA Tracy Briggs reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12RB1 Tracy Briggs reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL12B Tracy Briggs reviewed gene: IL12B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RB Tracy Briggs reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10RA Tracy Briggs reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL10 Tracy Briggs reviewed gene: IL10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKZF1 Tracy Briggs reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKG Tracy Briggs reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IKBKB Tracy Briggs reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGLL1 Tracy Briggs edited their review of gene: IGLL1: Added comment: YES- this is covered on our targeted exome; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IGHM Tracy Briggs reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR2 Tracy Briggs reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFNGR1 Tracy Briggs reviewed gene: IFNGR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IFIH1 Tracy Briggs reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ICOS Tracy Briggs reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HTRA2 Tracy Briggs reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS6 Tracy Briggs reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS4 Tracy Briggs reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HPS1 Tracy Briggs reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HELLS Tracy Briggs reviewed gene: HELLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 HAX1 Tracy Briggs commented on gene: HAX1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GINS1 Tracy Briggs reviewed gene: GINS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GFI1 Tracy Briggs commented on gene: GFI1: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA2 Tracy Briggs reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 GATA1 Tracy Briggs reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PD Tracy Briggs reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 G6PC3 Tracy Briggs commented on gene: G6PC3: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXP3 Tracy Briggs reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXN1 Tracy Briggs reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FERMT3 Tracy Briggs reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAT4 Tracy Briggs reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FASLG Tracy Briggs reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FAS Tracy Briggs reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Tracy Briggs reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 F12 Tracy Briggs reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Tracy Briggs reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Tracy Briggs reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EPG5 Tracy Briggs reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ELANE Tracy Briggs reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK8 Tracy Briggs reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DOCK2 Tracy Briggs reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNMT3B Tracy Briggs reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNASE2 Tracy Briggs reviewed gene: DNASE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DNAJC21 Tracy Briggs reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DKC1 Tracy Briggs reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1C Tracy Briggs commented on gene: DCLRE1C: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Tracy Briggs reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBB Tracy Briggs reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CYBA Tracy Briggs reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CXCR4 Tracy Briggs reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTSC Tracy Briggs reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTPS1 Tracy Briggs reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CTLA4 Tracy Briggs reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF3R Tracy Briggs reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RB Tracy Briggs reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CSF2RA Tracy Briggs reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CORO1A Tracy Briggs reviewed gene: CORO1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 COPA Tracy Briggs reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CLPB Tracy Briggs reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CIITA Tracy Briggs reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CHD7 Tracy Briggs reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFP Tracy Briggs reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFI Tracy Briggs reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFH Tracy Briggs reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFD Tracy Briggs reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CFB Tracy Briggs reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CEBPE Tracy Briggs reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CDCA7 Tracy Briggs reviewed gene: CDCA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79B Tracy Briggs commented on gene: CD79B: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD79A Tracy Briggs commented on gene: CD79A: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD70 Tracy Briggs reviewed gene: CD70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD59 Tracy Briggs reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD55 Tracy Briggs reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD46 Tracy Briggs reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40LG Tracy Briggs reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD40 Tracy Briggs reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3G Tracy Briggs reviewed gene: CD3G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3E Tracy Briggs commented on gene: CD3E: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD3D Tracy Briggs commented on gene: CD3D: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Tracy Briggs reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD19 Tracy Briggs reviewed gene: CD19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CCBE1 Tracy Briggs reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP8 Tracy Briggs reviewed gene: CASP8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CASP10 Tracy Briggs reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARMIL2 Tracy Briggs reviewed gene: CARMIL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD9 Tracy Briggs reviewed gene: CARD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD14 Tracy Briggs reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CARD11 Tracy Briggs reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C9 Tracy Briggs reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8B Tracy Briggs reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C8A Tracy Briggs reviewed gene: C8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C7 Tracy Briggs reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Tracy Briggs reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C5 Tracy Briggs reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4B Tracy Briggs reviewed gene: C4B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C4A Tracy Briggs reviewed gene: C4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C3 Tracy Briggs reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C2 Tracy Briggs reviewed gene: C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Tracy Briggs reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1R Tracy Briggs reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QC Tracy Briggs reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QB Tracy Briggs reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1QA Tracy Briggs reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BTK Tracy Briggs commented on gene: BTK: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLNK Tracy Briggs reviewed gene: BLNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BLM Tracy Briggs reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 BACH2 Tracy Briggs reviewed gene: BACH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 B2M Tracy Briggs reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATP6AP1 Tracy Briggs reviewed gene: ATP6AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ATM Tracy Briggs reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ARPC1B Tracy Briggs reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AP3B1 Tracy Briggs reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AK2 Tracy Briggs reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AIRE Tracy Briggs reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Tracy Briggs reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADAR Tracy Briggs reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA2 Tracy Briggs reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ADA Tracy Briggs commented on gene: ADA: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACP5 Tracy Briggs reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ACD Tracy Briggs reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 SH3BP2 Louise Daugherty Source GRID V2.0 was added to SH3BP2.
Source Expert Review Red was added to SH3BP2.
Source Victorian Clinical Genetics Services was added to SH3BP2.
Source ESID Registry 20171117 was added to SH3BP2.
Source IUIS Classification February 2018 was added to SH3BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 RET Louise Daugherty Source Expert Review Red was added to RET.
Source GOSH PID v.8.0 was added to RET.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 RANBP2 Louise Daugherty Source IUIS Classification February 2018 was added to RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.93 MBL2 Louise Daugherty Source Inherited complement deficiency v0.11 was added to MBL2.
Source Expert Review Amber was added to MBL2.
Source ESID Registry 20171117 was added to MBL2.
Source GRID V2.0 was added to MBL2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.92 SH3BP2 Louise Daugherty Publications for gene: SH3BP2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.91 SH3BP2 Louise Daugherty Phenotypes for gene: SH3BP2 were changed from to Cherubism 118400; Other autoinflammatory diseases with known genetic defect; Bone degeneration in jaws; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v1.90 SH3BP2 Louise Daugherty Mode of inheritance for gene: SH3BP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.89 RET Louise Daugherty Publications for gene: RET were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.88 RET Louise Daugherty Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital 209880
Primary immunodeficiency or monogenic inflammatory bowel disease v1.87 RET Louise Daugherty Mode of inheritance for gene: RET was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.86 RANBP2 Louise Daugherty Phenotypes for gene: RANBP2 were changed from to Fever induces acute encephalopathy; Defects in Intrinsic and Innate Immunity
Primary immunodeficiency or monogenic inflammatory bowel disease v1.85 RANBP2 Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.84 MBL2 Louise Daugherty Publications for gene: MBL2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.83 MBL2 Louise Daugherty Phenotypes for gene: MBL2 were changed from to Mannose-Binding Protein Deficiency, 614372; Chronic infections, due to MBL deficiency; Mannose-binding lectin deficiency (MBL)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.82 MBL2 Louise Daugherty Mode of inheritance for gene: MBL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.81 MBL2 Louise Daugherty reviewed gene: MBL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.81 MASP2 Louise Daugherty reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.81 MASP2 Louise Daugherty Source GRID V2.0 was added to MASP2.
Source Expert Review Red was added to MASP2.
Source Victorian Clinical Genetics Services was added to MASP2.
Source ESID Registry 20171117 was added to MASP2.
Source IUIS Classification February 2018 was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.80 MASP2 Louise Daugherty Publications for gene: MASP2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.79 MASP2 Louise Daugherty Phenotypes for gene: MASP2 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.78 MASP2 Louise Daugherty Mode of inheritance for gene: MASP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 GTF2H5 Louise Daugherty reviewed gene: GTF2H5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC2 Louise Daugherty reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 BLOC1S6 Louise Daugherty reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies to none
Primary immunodeficiency or monogenic inflammatory bowel disease v1.76 ERCC3 Louise Daugherty Publications for gene: ERCC3 were set to 24658431
Primary immunodeficiency or monogenic inflammatory bowel disease v1.75 ERCC3 Louise Daugherty Publications for gene: ERCC3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.74 ERCC3 Louise Daugherty Phenotypes for gene: ERCC3 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.73 ERCC3 Louise Daugherty Mode of inheritance for gene: ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.72 ERCC2 Louise Daugherty Publications for gene: ERCC2 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.71 ERCC2 Louise Daugherty Phenotypes for gene: ERCC2 were changed from to Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD); CD4 + lymphopenia
Primary immunodeficiency or monogenic inflammatory bowel disease v1.70 BLOC1S6 Louise Daugherty Publications for gene: BLOC1S6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.69 BLOC1S6 Louise Daugherty Phenotypes for gene: BLOC1S6 were changed from to Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect); Immune Dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v1.68 BLOC1S6 Louise Daugherty Mode of inheritance for gene: BLOC1S6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 SH3BP2 Louise Daugherty Source London North GLH was added to SH3BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 RET Louise Daugherty Source London North GLH was added to RET.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 RANBP2 Louise Daugherty Source London North GLH was added to RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 MBL2 Louise Daugherty Source London North GLH was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 MASP2 Louise Daugherty Source London North GLH was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 GTF2H5 Louise Daugherty Source London North GLH was added to GTF2H5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 ERCC3 Louise Daugherty Source London North GLH was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 ERCC2 Louise Daugherty Source London North GLH was added to ERCC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 BLOC1S6 Louise Daugherty Source London North GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 SH3BP2 Louise Daugherty Source NHS GMS was added to SH3BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 RET Louise Daugherty Source NHS GMS was added to RET.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 RANBP2 Louise Daugherty Source NHS GMS was added to RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 MBL2 Louise Daugherty Source NHS GMS was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 MASP2 Louise Daugherty Source NHS GMS was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 GTF2H5 Louise Daugherty Source NHS GMS was added to GTF2H5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 ERCC3 Louise Daugherty Source NHS GMS was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 ERCC2 Louise Daugherty Source NHS GMS was added to ERCC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 BLOC1S6 Louise Daugherty Source NHS GMS was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 SH3BP2 Louise Daugherty gene: SH3BP2 was added
gene: SH3BP2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: SH3BP2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 RET Louise Daugherty gene: RET was added
gene: RET was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: RET was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 RANBP2 Louise Daugherty gene: RANBP2 was added
gene: RANBP2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: RANBP2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 MBL2 Louise Daugherty gene: MBL2 was added
gene: MBL2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: MBL2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 MASP2 Louise Daugherty gene: MASP2 was added
gene: MASP2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: MASP2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 GTF2H5 Louise Daugherty gene: GTF2H5 was added
gene: GTF2H5 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: GTF2H5 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 ERCC3 Louise Daugherty gene: ERCC3 was added
gene: ERCC3 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: ERCC3 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 ERCC2 Louise Daugherty gene: ERCC2 was added
gene: ERCC2 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: ERCC2 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: BLOC1S6 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 PSMB9 Louise Daugherty SH3BP2 was changed to PSMB9
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 SH3BP2 Louise Daugherty Source North West GLH was added to SH3BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 PSMB4 Louise Daugherty RET was changed to PSMB4
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 RET Louise Daugherty Source North West GLH was added to RET.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 PSMA3 Louise Daugherty RANBP2 was changed to PSMA3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 RANBP2 Louise Daugherty Source North West GLH was added to RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 GUCY2C Louise Daugherty MBL2 was changed to GUCY2C
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 MBL2 Louise Daugherty Source North West GLH was added to MBL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 DNASE1L3 Louise Daugherty MASP2 was changed to DNASE1L3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 MASP2 Louise Daugherty Source North West GLH was added to MASP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 CTC1 Louise Daugherty GTF2H5 was changed to CTC1
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 GTF2H5 Louise Daugherty Source North West GLH was added to GTF2H5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 CFHR5 Louise Daugherty ERCC3 was changed to CFHR5
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ERCC3 Louise Daugherty Source North West GLH was added to ERCC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 AP1S3 Louise Daugherty ERCC2 was changed to AP1S3
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ERCC2 Louise Daugherty Source North West GLH was added to ERCC2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ADAM17 Louise Daugherty BLOC1S6 was changed to ADAM17
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 BLOC1S6 Louise Daugherty Source North West GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 WDR1 Louise Daugherty Source North West GLH was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 USP18 Louise Daugherty Source North West GLH was added to USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 TNFRSF11A Louise Daugherty Source North West GLH was added to TNFRSF11A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 SAMD9L Louise Daugherty Source North West GLH was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PTEN Louise Daugherty Source North West GLH was added to PTEN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PSMB9 Louise Daugherty Source North West GLH was added to PSMB9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PSMB4 Louise Daugherty Source North West GLH was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 PSMA3 Louise Daugherty Source North West GLH was added to PSMA3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 GUCY2C Louise Daugherty Source North West GLH was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 DNASE1L3 Louise Daugherty Source North West GLH was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 CTC1 Louise Daugherty Source North West GLH was added to CTC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 CFHR5 Louise Daugherty Source North West GLH was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 AP1S3 Louise Daugherty Source North West GLH was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 ADAM17 Louise Daugherty Source North West GLH was added to ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 WDR1 Louise Daugherty Source London North GLH was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 USP18 Louise Daugherty Source London North GLH was added to USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 TNFRSF11A Louise Daugherty Source London North GLH was added to TNFRSF11A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 SAMD9L Louise Daugherty Source London North GLH was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PTEN Louise Daugherty Source London North GLH was added to PTEN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PSMB9 Louise Daugherty Source London North GLH was added to PSMB9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PSMB4 Louise Daugherty Source London North GLH was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 PSMA3 Louise Daugherty Source London North GLH was added to PSMA3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 GUCY2C Louise Daugherty Source London North GLH was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 DNASE1L3 Louise Daugherty Source London North GLH was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 CTC1 Louise Daugherty Source London North GLH was added to CTC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 CFHR5 Louise Daugherty Source London North GLH was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 AP1S3 Louise Daugherty Source London North GLH was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 ADAM17 Louise Daugherty Source London North GLH was added to ADAM17.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 WDR1 Louise Daugherty Source NHS GMS was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 USP18 Louise Daugherty Source NHS GMS was added to USP18.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 TNFRSF11A Louise Daugherty Source NHS GMS was added to TNFRSF11A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 SAMD9L Louise Daugherty Source NHS GMS was added to SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PSMB9 Louise Daugherty Source NHS GMS was added to PSMB9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PSMB4 Louise Daugherty Source NHS GMS was added to PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 PSMA3 Louise Daugherty Source NHS GMS was added to PSMA3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 GUCY2C Louise Daugherty Source NHS GMS was added to GUCY2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 DNASE1L3 Louise Daugherty Source NHS GMS was added to DNASE1L3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 CTC1 Louise Daugherty Source NHS GMS was added to CTC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 CFHR5 Louise Daugherty Source NHS GMS was added to CFHR5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 AP1S3 Louise Daugherty Source NHS GMS was added to AP1S3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 ADAM17 Louise Daugherty Source NHS GMS was added to ADAM17.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.0 Eleanor Williams promoted panel to version 2.0
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.134 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.133 ISCA-37420-Loss Eleanor Williams commented on Region: ISCA-37420-Loss: GMS Musculoskeletal test group informed of amber rating at Webex. No objections.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.133 TFAP2B Eleanor Williams Classified gene: TFAP2B as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.133 TFAP2B Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as 4 cases have been reported.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.133 TFAP2B Eleanor Williams Gene: tfap2b has been classified as Green List (High Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.132 TFAP2B Eleanor Williams Phenotypes for gene: TFAP2B were changed from to Char syndrome 169100
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.131 TFAP2B Eleanor Williams Publications for gene: TFAP2B were set to 31405973
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.130 TFAP2B Eleanor Williams commented on gene: TFAP2B: 4 cases reported
There are 4 cases reported in PMID: 31292255 (Correction in PMID: 31405973) 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ZBTB24 Louise Daugherty Source NHS GMS was added to ZBTB24.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ZAP70 Louise Daugherty Source NHS GMS was added to ZAP70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 XIAP Louise Daugherty Source NHS GMS was added to XIAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 WIPF1 Louise Daugherty Source NHS GMS was added to WIPF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 WAS Louise Daugherty Source NHS GMS was added to WAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 VPS45 Louise Daugherty Source NHS GMS was added to VPS45.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 VPS13B Louise Daugherty Source NHS GMS was added to VPS13B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 USB1 Louise Daugherty Source NHS GMS was added to USB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 UNG Louise Daugherty Source NHS GMS was added to UNG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 UNC93B1 Louise Daugherty Source NHS GMS was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 UNC13D Louise Daugherty Source NHS GMS was added to UNC13D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TYK2 Louise Daugherty Source NHS GMS was added to TYK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TTC7A Louise Daugherty Source NHS GMS was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TTC37 Louise Daugherty Source NHS GMS was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TRNT1 Louise Daugherty Source NHS GMS was added to TRNT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TREX1 Louise Daugherty Source NHS GMS was added to TREX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TRAC Louise Daugherty Source NHS GMS was added to TRAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TPP2 Louise Daugherty Source NHS GMS was added to TPP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TNFRSF1A Louise Daugherty Source NHS GMS was added to TNFRSF1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TNFAIP3 Louise Daugherty Source NHS GMS was added to TNFAIP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TMEM173 Louise Daugherty Source NHS GMS was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TMC8 Louise Daugherty Source NHS GMS was added to TMC8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TMC6 Louise Daugherty Source NHS GMS was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TLR3 Louise Daugherty Source NHS GMS was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TICAM1 Louise Daugherty Source NHS GMS was added to TICAM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TCN2 Louise Daugherty Source NHS GMS was added to TCN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TCF3 Louise Daugherty Source NHS GMS was added to TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TBK1 Louise Daugherty Source NHS GMS was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TAZ Louise Daugherty Source NHS GMS was added to TAZ.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TAP2 Louise Daugherty Source NHS GMS was added to TAP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TAP1 Louise Daugherty Source NHS GMS was added to TAP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STXBP2 Louise Daugherty Source NHS GMS was added to STXBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STX11 Louise Daugherty Source NHS GMS was added to STX11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STK4 Louise Daugherty Source NHS GMS was added to STK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT5B Louise Daugherty Source NHS GMS was added to STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT3 Louise Daugherty Source NHS GMS was added to STAT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT2 Louise Daugherty Source NHS GMS was added to STAT2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 STAT1 Louise Daugherty Source NHS GMS was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SPPL2A Louise Daugherty Source NHS GMS was added to SPPL2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SPINK5 Louise Daugherty Source NHS GMS was added to SPINK5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SP110 Louise Daugherty Source NHS GMS was added to SP110.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SMARCAL1 Louise Daugherty Source NHS GMS was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC46A1 Louise Daugherty Source NHS GMS was added to SLC46A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC37A4 Louise Daugherty Source NHS GMS was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC35C1 Louise Daugherty Source NHS GMS was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SLC29A3 Louise Daugherty Source NHS GMS was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SKIV2L Louise Daugherty Source NHS GMS was added to SKIV2L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SH2D1A Louise Daugherty Source NHS GMS was added to SH2D1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SGPL1 Louise Daugherty Source NHS GMS was added to SGPL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SERPING1 Louise Daugherty Source NHS GMS was added to SERPING1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SBDS Louise Daugherty Source NHS GMS was added to SBDS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SAMHD1 Louise Daugherty Source NHS GMS was added to SAMHD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RTEL1 Louise Daugherty Source NHS GMS was added to RTEL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RPSA Louise Daugherty Source NHS GMS was added to RPSA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RORC Louise Daugherty Source NHS GMS was added to RORC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RNF168 Louise Daugherty Source NHS GMS was added to RNF168.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RNASEH2C Louise Daugherty Source NHS GMS was added to RNASEH2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RNASEH2B Louise Daugherty Source NHS GMS was added to RNASEH2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RNASEH2A Louise Daugherty Source NHS GMS was added to RNASEH2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RMRP Louise Daugherty Source NHS GMS was added to RMRP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RIPK1 Louise Daugherty Source NHS GMS was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RFXAP Louise Daugherty Source NHS GMS was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RFXANK Louise Daugherty Source NHS GMS was added to RFXANK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RFX5 Louise Daugherty Source NHS GMS was added to RFX5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RBCK1 Louise Daugherty Source NHS GMS was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RASGRP1 Louise Daugherty Source NHS GMS was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RAG2 Louise Daugherty Source NHS GMS was added to RAG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RAG1 Louise Daugherty Source NHS GMS was added to RAG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 RAB27A Louise Daugherty Source NHS GMS was added to RAB27A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PTPRC Louise Daugherty Source NHS GMS was added to PTPRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PSTPIP1 Louise Daugherty Source NHS GMS was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PSMB8 Louise Daugherty Source NHS GMS was added to PSMB8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PRKDC Louise Daugherty Source NHS GMS was added to PRKDC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PRKCD Louise Daugherty Source NHS GMS was added to PRKCD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PRF1 Louise Daugherty Source NHS GMS was added to PRF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 POLA1 Louise Daugherty Source NHS GMS was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PNP Louise Daugherty Source NHS GMS was added to PNP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PLCG2 Louise Daugherty Source NHS GMS was added to PLCG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PIK3R1 Louise Daugherty Source NHS GMS was added to PIK3R1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PIK3CD Louise Daugherty Source NHS GMS was added to PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PGM3 Louise Daugherty Source NHS GMS was added to PGM3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PEPD Louise Daugherty Source NHS GMS was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 PARN Louise Daugherty Source NHS GMS was added to PARN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 OTULIN Louise Daugherty Source NHS GMS was added to OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ORAI1 Louise Daugherty Source NHS GMS was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NSMCE3 Louise Daugherty Source NHS GMS was added to NSMCE3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NRAS Louise Daugherty Source NHS GMS was added to NRAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NOD2 Louise Daugherty Source NHS GMS was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP3 Louise Daugherty Source NHS GMS was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP12 Louise Daugherty Source NHS GMS was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP1 Louise Daugherty Source NHS GMS was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRC4 Louise Daugherty Source NHS GMS was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NHP2 Louise Daugherty Source NHS GMS was added to NHP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NHEJ1 Louise Daugherty Source NHS GMS was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NFKBIA Louise Daugherty Source NHS GMS was added to NFKBIA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NFKB2 Louise Daugherty Source NHS GMS was added to NFKB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NFKB1 Louise Daugherty Source NHS GMS was added to NFKB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NCF4 Louise Daugherty Source NHS GMS was added to NCF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NCF2 Louise Daugherty Source NHS GMS was added to NCF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NCF1 Louise Daugherty Source NHS GMS was added to NCF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NBN Louise Daugherty Source NHS GMS was added to NBN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MYSM1 Louise Daugherty Source NHS GMS was added to MYSM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MYO5B Louise Daugherty Source NHS GMS was added to MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MYD88 Louise Daugherty Source NHS GMS was added to MYD88.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MVK Louise Daugherty Source NHS GMS was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MTHFD1 Louise Daugherty Source NHS GMS was added to MTHFD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MSN Louise Daugherty Source NHS GMS was added to MSN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MOGS Louise Daugherty Source NHS GMS was added to MOGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MEFV Louise Daugherty Source NHS GMS was added to MEFV.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MCM4 Louise Daugherty Source NHS GMS was added to MCM4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MAP3K14 Louise Daugherty Source NHS GMS was added to MAP3K14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MALT1 Louise Daugherty Source NHS GMS was added to MALT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 MAGT1 Louise Daugherty Source NHS GMS was added to MAGT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LYST Louise Daugherty Source NHS GMS was added to LYST.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LRBA Louise Daugherty Source NHS GMS was added to LRBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LPIN2 Louise Daugherty Source NHS GMS was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LIG4 Louise Daugherty Source NHS GMS was added to LIG4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LCK Louise Daugherty Source NHS GMS was added to LCK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LAT Louise Daugherty Source NHS GMS was added to LAT.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 LAMTOR2 Louise Daugherty Source NHS GMS was added to LAMTOR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 JAK3 Louise Daugherty Source NHS GMS was added to JAK3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 JAGN1 Louise Daugherty Source NHS GMS was added to JAGN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ITK Louise Daugherty Source NHS GMS was added to ITK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ITGB2 Louise Daugherty Source NHS GMS was added to ITGB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ITCH Louise Daugherty Source NHS GMS was added to ITCH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ISG15 Louise Daugherty Source NHS GMS was added to ISG15.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IRF8 Louise Daugherty Source NHS GMS was added to IRF8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IRAK4 Louise Daugherty Source NHS GMS was added to IRAK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 INO80 Louise Daugherty Source NHS GMS was added to INO80.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL7R Louise Daugherty Source NHS GMS was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL36RN Louise Daugherty Source NHS GMS was added to IL36RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL2RG Louise Daugherty Source NHS GMS was added to IL2RG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL2RA Louise Daugherty Source NHS GMS was added to IL2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL21R Louise Daugherty Source NHS GMS was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL1RN Louise Daugherty Source NHS GMS was added to IL1RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL17RC Louise Daugherty Source NHS GMS was added to IL17RC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL17RA Louise Daugherty Source NHS GMS was added to IL17RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL12RB1 Louise Daugherty Source NHS GMS was added to IL12RB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL12B Louise Daugherty Source NHS GMS was added to IL12B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL10RB Louise Daugherty Source NHS GMS was added to IL10RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL10RA Louise Daugherty Source NHS GMS was added to IL10RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL10 Louise Daugherty Source NHS GMS was added to IL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKZF1 Louise Daugherty Source NHS GMS was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKBKG Louise Daugherty Source NHS GMS was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IKBKB Louise Daugherty Source NHS GMS was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IGLL1 Louise Daugherty Source NHS GMS was added to IGLL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IGHM Louise Daugherty Source NHS GMS was added to IGHM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IFNGR2 Louise Daugherty Source NHS GMS was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IFNGR1 Louise Daugherty Source NHS GMS was added to IFNGR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IFIH1 Louise Daugherty Source NHS GMS was added to IFIH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ICOS Louise Daugherty Source NHS GMS was added to ICOS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HPS6 Louise Daugherty Source NHS GMS was added to HPS6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HPS4 Louise Daugherty Source NHS GMS was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HPS1 Louise Daugherty Source NHS GMS was added to HPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HELLS Louise Daugherty Source NHS GMS was added to HELLS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 HAX1 Louise Daugherty Source NHS GMS was added to HAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 GINS1 Louise Daugherty Source NHS GMS was added to GINS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 GFI1 Louise Daugherty Source NHS GMS was added to GFI1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.130 TFAP2B Eleanor Williams commented on gene: TFAP2B: Review from Helen Lord (Oxford University Hospitals NHS Trust):
Paper by Timberlake et al, 2019, PNAS, 116 (34) 17130 (PMID 31405973): 12 probands with syndromic craniosynostosis. Exome sequencing identified 4/12 TFAP2B variants – 3 of the patients had metopic synostosis and 1 had sagittal synostosis. 2 de novo (splicing and missense) and 2 rare transmitted LOF variants (nonsense variant (transmitted from an affected parent- looks like untreated metopic synostosis) and one affecting the initiating Met (transmitted from an unaffected parent)).

They comment that heterozygous damaging variants have been implicated in CHAR syndrome, and abnormal head shapes and ridging over the cranial sutures have been reported in several patients.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 GATA2 Louise Daugherty Source NHS GMS was added to GATA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 GATA1 Louise Daugherty Source NHS GMS was added to GATA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 G6PD Louise Daugherty Source NHS GMS was added to G6PD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 G6PC3 Louise Daugherty Source NHS GMS was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FOXP3 Louise Daugherty Source NHS GMS was added to FOXP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FOXN1 Louise Daugherty Source NHS GMS was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FERMT3 Louise Daugherty Source NHS GMS was added to FERMT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FAT4 Louise Daugherty Source NHS GMS was added to FAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FASLG Louise Daugherty Source NHS GMS was added to FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FAS Louise Daugherty Source NHS GMS was added to FAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FADD Louise Daugherty Source NHS GMS was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 F12 Louise Daugherty Source NHS GMS was added to F12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 EXTL3 Louise Daugherty Source NHS GMS was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ERCC6L2 Louise Daugherty Source NHS GMS was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 EPG5 Louise Daugherty Source NHS GMS was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ELANE Louise Daugherty Source NHS GMS was added to ELANE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DOCK8 Louise Daugherty Source NHS GMS was added to DOCK8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DOCK2 Louise Daugherty Source NHS GMS was added to DOCK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DNMT3B Louise Daugherty Source NHS GMS was added to DNMT3B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DNASE2 Louise Daugherty Source NHS GMS was added to DNASE2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DNAJC21 Louise Daugherty Source NHS GMS was added to DNAJC21.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DKC1 Louise Daugherty Source NHS GMS was added to DKC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DCLRE1C Louise Daugherty Source NHS GMS was added to DCLRE1C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DCLRE1B Louise Daugherty Source NHS GMS was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CYBB Louise Daugherty Source NHS GMS was added to CYBB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CYBA Louise Daugherty Source NHS GMS was added to CYBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CXCR4 Louise Daugherty Source NHS GMS was added to CXCR4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CTSC Louise Daugherty Source NHS GMS was added to CTSC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CTPS1 Louise Daugherty Source NHS GMS was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CTLA4 Louise Daugherty Source NHS GMS was added to CTLA4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CSF3R Louise Daugherty Source NHS GMS was added to CSF3R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CSF2RB Louise Daugherty Source NHS GMS was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CSF2RA Louise Daugherty Source NHS GMS was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CORO1A Louise Daugherty Source NHS GMS was added to CORO1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 COPA Louise Daugherty Source NHS GMS was added to COPA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CLPB Louise Daugherty Source NHS GMS was added to CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CIITA Louise Daugherty Source NHS GMS was added to CIITA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CHD7 Louise Daugherty Source NHS GMS was added to CHD7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFP Louise Daugherty Source NHS GMS was added to CFP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFI Louise Daugherty Source NHS GMS was added to CFI.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFH Louise Daugherty Source NHS GMS was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFD Louise Daugherty Source NHS GMS was added to CFD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CFB Louise Daugherty Source NHS GMS was added to CFB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CEBPE Louise Daugherty Source NHS GMS was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CDCA7 Louise Daugherty Source NHS GMS was added to CDCA7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD79B Louise Daugherty Source NHS GMS was added to CD79B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD79A Louise Daugherty Source NHS GMS was added to CD79A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD70 Louise Daugherty Source NHS GMS was added to CD70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD59 Louise Daugherty Source NHS GMS was added to CD59.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD55 Louise Daugherty Source NHS GMS was added to CD55.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD46 Louise Daugherty Source NHS GMS was added to CD46.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD40LG Louise Daugherty Source NHS GMS was added to CD40LG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD40 Louise Daugherty Source NHS GMS was added to CD40.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD3G Louise Daugherty Source NHS GMS was added to CD3G.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD3E Louise Daugherty Source NHS GMS was added to CD3E.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD3D Louise Daugherty Source NHS GMS was added to CD3D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD27 Louise Daugherty Source NHS GMS was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD19 Louise Daugherty Source NHS GMS was added to CD19.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CCBE1 Louise Daugherty Source NHS GMS was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CASP8 Louise Daugherty Source NHS GMS was added to CASP8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CASP10 Louise Daugherty Source NHS GMS was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARMIL2 Louise Daugherty Source NHS GMS was added to CARMIL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARD9 Louise Daugherty Source NHS GMS was added to CARD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARD14 Louise Daugherty Source NHS GMS was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CARD11 Louise Daugherty Source NHS GMS was added to CARD11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C9 Louise Daugherty Source NHS GMS was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C8B Louise Daugherty Source NHS GMS was added to C8B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C8A Louise Daugherty Source NHS GMS was added to C8A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C7 Louise Daugherty Source NHS GMS was added to C7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C6 Louise Daugherty Source NHS GMS was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C5 Louise Daugherty Source NHS GMS was added to C5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C4B Louise Daugherty Source NHS GMS was added to C4B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C4A Louise Daugherty Source NHS GMS was added to C4A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C3 Louise Daugherty Source NHS GMS was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C2 Louise Daugherty Source NHS GMS was added to C2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1S Louise Daugherty Source NHS GMS was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1R Louise Daugherty Source NHS GMS was added to C1R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1QC Louise Daugherty Source NHS GMS was added to C1QC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1QB Louise Daugherty Source NHS GMS was added to C1QB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1QA Louise Daugherty Source NHS GMS was added to C1QA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BTK Louise Daugherty Source NHS GMS was added to BTK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BLNK Louise Daugherty Source NHS GMS was added to BLNK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BLM Louise Daugherty Source NHS GMS was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 BACH2 Louise Daugherty Source NHS GMS was added to BACH2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 B2M Louise Daugherty Source NHS GMS was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ATP6AP1 Louise Daugherty Source NHS GMS was added to ATP6AP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ATM Louise Daugherty Source NHS GMS was added to ATM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ARPC1B Louise Daugherty Source NHS GMS was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AP3B1 Louise Daugherty Source NHS GMS was added to AP3B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AK2 Louise Daugherty Source NHS GMS was added to AK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AIRE Louise Daugherty Source NHS GMS was added to AIRE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AICDA Louise Daugherty Source NHS GMS was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ADA2 Louise Daugherty Source NHS GMS was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ADA Louise Daugherty Source NHS GMS was added to ADA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ACP5 Louise Daugherty Source NHS GMS was added to ACP5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ACD Louise Daugherty Source NHS GMS was added to ACD.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.130 TFAP2B Eleanor Williams gene: TFAP2B was added
gene: TFAP2B was added to Craniosynostosis. Sources: Expert Review
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TFAP2B were set to 31405973
Added comment: Gene suggested for inclusion by Helen Lord.
Sources: Expert Review
Lysosomal storage disorder v1.0 Sarah Leigh promoted panel to version 1.0
Lysosomal storage disorder v0.11 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Neuronal ceroid lipofuscinosis v1.0 Sarah Leigh promoted panel to version 1.0
Neuronal ceroid lipofuscinosis v0.11 Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.129 ESCO2 Eleanor Williams Publications for gene: ESCO2 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.128 ESCO2 Eleanor Williams Classified gene: ESCO2 as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.128 ESCO2 Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to amber. 2 published cases plus one seen in a clinic.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.128 ESCO2 Eleanor Williams Gene: esco2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.485 PITRM1 Sarah Leigh changed review comment from: Based on publications pmids 29764912; 26697887; 29383861; to: Green rating based on publications pmids 29764912; 26697887; 29383861
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ZBTB24 Louise Daugherty Source North West GLH was added to ZBTB24.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ZAP70 Louise Daugherty Source North West GLH was added to ZAP70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 XIAP Louise Daugherty Source North West GLH was added to XIAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 WIPF1 Louise Daugherty Source North West GLH was added to WIPF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 WAS Louise Daugherty Source North West GLH was added to WAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 VPS45 Louise Daugherty Source North West GLH was added to VPS45.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 VPS13B Louise Daugherty Source North West GLH was added to VPS13B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 USB1 Louise Daugherty Source North West GLH was added to USB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 UNG Louise Daugherty Source North West GLH was added to UNG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 UNC93B1 Louise Daugherty Source North West GLH was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 UNC13D Louise Daugherty Source North West GLH was added to UNC13D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TYK2 Louise Daugherty Source North West GLH was added to TYK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TTC7A Louise Daugherty Source North West GLH was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TTC37 Louise Daugherty Source North West GLH was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TRNT1 Louise Daugherty Source North West GLH was added to TRNT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TREX1 Louise Daugherty Source North West GLH was added to TREX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TRAC Louise Daugherty Source North West GLH was added to TRAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TPP2 Louise Daugherty Source North West GLH was added to TPP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TNFRSF1A Louise Daugherty Source North West GLH was added to TNFRSF1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TNFAIP3 Louise Daugherty Source North West GLH was added to TNFAIP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TMEM173 Louise Daugherty Source North West GLH was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TMC8 Louise Daugherty Source North West GLH was added to TMC8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TMC6 Louise Daugherty Source North West GLH was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TLR3 Louise Daugherty Source North West GLH was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TICAM1 Louise Daugherty Source North West GLH was added to TICAM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TCN2 Louise Daugherty Source North West GLH was added to TCN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TCF3 Louise Daugherty Source North West GLH was added to TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TBK1 Louise Daugherty Source North West GLH was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TAZ Louise Daugherty Source North West GLH was added to TAZ.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TAP2 Louise Daugherty Source North West GLH was added to TAP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TAP1 Louise Daugherty Source North West GLH was added to TAP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STXBP2 Louise Daugherty Source North West GLH was added to STXBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STX11 Louise Daugherty Source North West GLH was added to STX11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STK4 Louise Daugherty Source North West GLH was added to STK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STIM1 Louise Daugherty Source North West GLH was added to STIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT5B Louise Daugherty Source North West GLH was added to STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT3 Louise Daugherty Source North West GLH was added to STAT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT2 Louise Daugherty Source North West GLH was added to STAT2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 STAT1 Louise Daugherty Source North West GLH was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SPPL2A Louise Daugherty Source North West GLH was added to SPPL2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SPINK5 Louise Daugherty Source North West GLH was added to SPINK5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SP110 Louise Daugherty Source North West GLH was added to SP110.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SMARCAL1 Louise Daugherty Source North West GLH was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC46A1 Louise Daugherty Source North West GLH was added to SLC46A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC37A4 Louise Daugherty Source North West GLH was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC35C1 Louise Daugherty Source North West GLH was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SLC29A3 Louise Daugherty Source North West GLH was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SKIV2L Louise Daugherty Source North West GLH was added to SKIV2L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SH2D1A Louise Daugherty Source North West GLH was added to SH2D1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SGPL1 Louise Daugherty Source North West GLH was added to SGPL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SERPING1 Louise Daugherty Source North West GLH was added to SERPING1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SBDS Louise Daugherty Source North West GLH was added to SBDS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SAMHD1 Louise Daugherty Source North West GLH was added to SAMHD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RTEL1 Louise Daugherty Source North West GLH was added to RTEL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RPSA Louise Daugherty Source North West GLH was added to RPSA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RORC Louise Daugherty Source North West GLH was added to RORC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RNF168 Louise Daugherty Source North West GLH was added to RNF168.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RNASEH2C Louise Daugherty Source North West GLH was added to RNASEH2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RNASEH2B Louise Daugherty Source North West GLH was added to RNASEH2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RNASEH2A Louise Daugherty Source North West GLH was added to RNASEH2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RMRP Louise Daugherty Source North West GLH was added to RMRP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RIPK1 Louise Daugherty Source North West GLH was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RFXAP Louise Daugherty Source North West GLH was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RFXANK Louise Daugherty Source North West GLH was added to RFXANK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RFX5 Louise Daugherty Source North West GLH was added to RFX5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RBCK1 Louise Daugherty Source North West GLH was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RASGRP1 Louise Daugherty Source North West GLH was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RAG2 Louise Daugherty Source North West GLH was added to RAG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RAG1 Louise Daugherty Source North West GLH was added to RAG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 RAB27A Louise Daugherty Source North West GLH was added to RAB27A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PTPRC Louise Daugherty Source North West GLH was added to PTPRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PSTPIP1 Louise Daugherty Source North West GLH was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PSMB8 Louise Daugherty Source North West GLH was added to PSMB8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PRKDC Louise Daugherty Source North West GLH was added to PRKDC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PRKCD Louise Daugherty Source North West GLH was added to PRKCD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PRF1 Louise Daugherty Source North West GLH was added to PRF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 POLA1 Louise Daugherty Source North West GLH was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PNP Louise Daugherty Source North West GLH was added to PNP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PLCG2 Louise Daugherty Source North West GLH was added to PLCG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PIK3R1 Louise Daugherty Source North West GLH was added to PIK3R1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PIK3CD Louise Daugherty Source North West GLH was added to PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PGM3 Louise Daugherty Source North West GLH was added to PGM3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PEPD Louise Daugherty Source North West GLH was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 PARN Louise Daugherty Source North West GLH was added to PARN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 OTULIN Louise Daugherty Source North West GLH was added to OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ORAI1 Louise Daugherty Source North West GLH was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NSMCE3 Louise Daugherty Source North West GLH was added to NSMCE3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NRAS Louise Daugherty Source North West GLH was added to NRAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NOD2 Louise Daugherty Source North West GLH was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP3 Louise Daugherty Source North West GLH was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP12 Louise Daugherty Source North West GLH was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP1 Louise Daugherty Source North West GLH was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRC4 Louise Daugherty Source North West GLH was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NHP2 Louise Daugherty Source North West GLH was added to NHP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NHEJ1 Louise Daugherty Source North West GLH was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NFKBIA Louise Daugherty Source North West GLH was added to NFKBIA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NFKB2 Louise Daugherty Source North West GLH was added to NFKB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NFKB1 Louise Daugherty Source North West GLH was added to NFKB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NCF4 Louise Daugherty Source North West GLH was added to NCF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NCF2 Louise Daugherty Source North West GLH was added to NCF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NCF1 Louise Daugherty Source North West GLH was added to NCF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NBN Louise Daugherty Source North West GLH was added to NBN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MYSM1 Louise Daugherty Source North West GLH was added to MYSM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MYO5B Louise Daugherty Source North West GLH was added to MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MYD88 Louise Daugherty Source North West GLH was added to MYD88.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MVK Louise Daugherty Source North West GLH was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MTHFD1 Louise Daugherty Source North West GLH was added to MTHFD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MSN Louise Daugherty Source North West GLH was added to MSN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MOGS Louise Daugherty Source North West GLH was added to MOGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MEFV Louise Daugherty Source North West GLH was added to MEFV.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MCM4 Louise Daugherty Source North West GLH was added to MCM4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MAP3K14 Louise Daugherty Source North West GLH was added to MAP3K14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MALT1 Louise Daugherty Source North West GLH was added to MALT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 MAGT1 Louise Daugherty Source North West GLH was added to MAGT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LYST Louise Daugherty Source North West GLH was added to LYST.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LRBA Louise Daugherty Source North West GLH was added to LRBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LPIN2 Louise Daugherty Source North West GLH was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LIG4 Louise Daugherty Source North West GLH was added to LIG4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LCK Louise Daugherty Source North West GLH was added to LCK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LAT Louise Daugherty Source North West GLH was added to LAT.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 LAMTOR2 Louise Daugherty Source North West GLH was added to LAMTOR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 JAK3 Louise Daugherty Source North West GLH was added to JAK3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 JAGN1 Louise Daugherty Source North West GLH was added to JAGN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ITK Louise Daugherty Source North West GLH was added to ITK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ITGB2 Louise Daugherty Source North West GLH was added to ITGB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ITCH Louise Daugherty Source North West GLH was added to ITCH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ISG15 Louise Daugherty Source North West GLH was added to ISG15.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IRF8 Louise Daugherty Source North West GLH was added to IRF8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IRAK4 Louise Daugherty Source North West GLH was added to IRAK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 INO80 Louise Daugherty Source North West GLH was added to INO80.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL7R Louise Daugherty Source North West GLH was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL36RN Louise Daugherty Source North West GLH was added to IL36RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL2RG Louise Daugherty Source North West GLH was added to IL2RG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL2RA Louise Daugherty Source North West GLH was added to IL2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL21R Louise Daugherty Source North West GLH was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL1RN Louise Daugherty Source North West GLH was added to IL1RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL17RC Louise Daugherty Source North West GLH was added to IL17RC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL17RA Louise Daugherty Source North West GLH was added to IL17RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL12RB1 Louise Daugherty Source North West GLH was added to IL12RB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL12B Louise Daugherty Source North West GLH was added to IL12B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL10RB Louise Daugherty Source North West GLH was added to IL10RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL10RA Louise Daugherty Source North West GLH was added to IL10RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL10 Louise Daugherty Source North West GLH was added to IL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKZF1 Louise Daugherty Source North West GLH was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKBKG Louise Daugherty Source North West GLH was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IKBKB Louise Daugherty Source North West GLH was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IGLL1 Louise Daugherty Source North West GLH was added to IGLL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IGHM Louise Daugherty Source North West GLH was added to IGHM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IFNGR2 Louise Daugherty Source North West GLH was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IFNGR1 Louise Daugherty Source North West GLH was added to IFNGR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IFIH1 Louise Daugherty Source North West GLH was added to IFIH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ICOS Louise Daugherty Source North West GLH was added to ICOS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HTRA2 Louise Daugherty Source North West GLH was added to HTRA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HPS6 Louise Daugherty Source North West GLH was added to HPS6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HPS4 Louise Daugherty Source North West GLH was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HPS1 Louise Daugherty Source North West GLH was added to HPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HELLS Louise Daugherty Source North West GLH was added to HELLS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 HAX1 Louise Daugherty Source North West GLH was added to HAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 GINS1 Louise Daugherty Source North West GLH was added to GINS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 GFI1 Louise Daugherty Source North West GLH was added to GFI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 GATA2 Louise Daugherty Source North West GLH was added to GATA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 GATA1 Louise Daugherty Source North West GLH was added to GATA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 G6PD Louise Daugherty Source North West GLH was added to G6PD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 G6PC3 Louise Daugherty Source North West GLH was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FOXP3 Louise Daugherty Source North West GLH was added to FOXP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FOXN1 Louise Daugherty Source North West GLH was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FERMT3 Louise Daugherty Source North West GLH was added to FERMT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FAT4 Louise Daugherty Source North West GLH was added to FAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FASLG Louise Daugherty Source North West GLH was added to FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FAS Louise Daugherty Source North West GLH was added to FAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FADD Louise Daugherty Source North West GLH was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 F12 Louise Daugherty Source North West GLH was added to F12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 EXTL3 Louise Daugherty Source North West GLH was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ERCC6L2 Louise Daugherty Source North West GLH was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 EPG5 Louise Daugherty Source North West GLH was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ELANE Louise Daugherty Source North West GLH was added to ELANE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DOCK8 Louise Daugherty Source North West GLH was added to DOCK8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DOCK2 Louise Daugherty Source North West GLH was added to DOCK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DNMT3B Louise Daugherty Source North West GLH was added to DNMT3B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DNASE2 Louise Daugherty Source North West GLH was added to DNASE2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DNAJC21 Louise Daugherty Source North West GLH was added to DNAJC21.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DKC1 Louise Daugherty Source North West GLH was added to DKC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DCLRE1C Louise Daugherty Source North West GLH was added to DCLRE1C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DCLRE1B Louise Daugherty Source North West GLH was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CYBB Louise Daugherty Source North West GLH was added to CYBB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CYBA Louise Daugherty Source North West GLH was added to CYBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CXCR4 Louise Daugherty Source North West GLH was added to CXCR4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CTSC Louise Daugherty Source North West GLH was added to CTSC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CTPS1 Louise Daugherty Source North West GLH was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CTLA4 Louise Daugherty Source North West GLH was added to CTLA4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CSF3R Louise Daugherty Source North West GLH was added to CSF3R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CSF2RB Louise Daugherty Source North West GLH was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CSF2RA Louise Daugherty Source North West GLH was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CORO1A Louise Daugherty Source North West GLH was added to CORO1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 COPA Louise Daugherty Source North West GLH was added to COPA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CLPB Louise Daugherty Source North West GLH was added to CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CIITA Louise Daugherty Source North West GLH was added to CIITA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CHD7 Louise Daugherty Source North West GLH was added to CHD7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFP Louise Daugherty Source North West GLH was added to CFP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFI Louise Daugherty Source North West GLH was added to CFI.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFH Louise Daugherty Source North West GLH was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFD Louise Daugherty Source North West GLH was added to CFD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CFB Louise Daugherty Source North West GLH was added to CFB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CEBPE Louise Daugherty Source North West GLH was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CDCA7 Louise Daugherty Source North West GLH was added to CDCA7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD79B Louise Daugherty Source North West GLH was added to CD79B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD79A Louise Daugherty Source North West GLH was added to CD79A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD70 Louise Daugherty Source North West GLH was added to CD70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD59 Louise Daugherty Source North West GLH was added to CD59.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD55 Louise Daugherty Source North West GLH was added to CD55.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD46 Louise Daugherty Source North West GLH was added to CD46.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD40LG Louise Daugherty Source North West GLH was added to CD40LG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD40 Louise Daugherty Source North West GLH was added to CD40.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD3G Louise Daugherty Source North West GLH was added to CD3G.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD3E Louise Daugherty Source North West GLH was added to CD3E.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD3D Louise Daugherty Source North West GLH was added to CD3D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD27 Louise Daugherty Source North West GLH was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD19 Louise Daugherty Source North West GLH was added to CD19.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CCBE1 Louise Daugherty Source North West GLH was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CASP8 Louise Daugherty Source North West GLH was added to CASP8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CASP10 Louise Daugherty Source North West GLH was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARMIL2 Louise Daugherty Source North West GLH was added to CARMIL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARD9 Louise Daugherty Source North West GLH was added to CARD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARD14 Louise Daugherty Source North West GLH was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CARD11 Louise Daugherty Source North West GLH was added to CARD11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C9 Louise Daugherty Source North West GLH was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C8B Louise Daugherty Source North West GLH was added to C8B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C8A Louise Daugherty Source North West GLH was added to C8A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C7 Louise Daugherty Source North West GLH was added to C7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C6 Louise Daugherty Source North West GLH was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C5 Louise Daugherty Source North West GLH was added to C5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C4B Louise Daugherty Source North West GLH was added to C4B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C4A Louise Daugherty Source North West GLH was added to C4A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C3 Louise Daugherty Source North West GLH was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C2 Louise Daugherty Source North West GLH was added to C2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1S Louise Daugherty Source North West GLH was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1R Louise Daugherty Source North West GLH was added to C1R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1QC Louise Daugherty Source North West GLH was added to C1QC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1QB Louise Daugherty Source North West GLH was added to C1QB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1QA Louise Daugherty Source North West GLH was added to C1QA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BTK Louise Daugherty Source North West GLH was added to BTK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BLNK Louise Daugherty Source North West GLH was added to BLNK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BLM Louise Daugherty Source North West GLH was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 BACH2 Louise Daugherty Source North West GLH was added to BACH2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 B2M Louise Daugherty Source North West GLH was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ATP6AP1 Louise Daugherty Source North West GLH was added to ATP6AP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ATM Louise Daugherty Source North West GLH was added to ATM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ARPC1B Louise Daugherty Source North West GLH was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AP3B1 Louise Daugherty Source North West GLH was added to AP3B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AK2 Louise Daugherty Source North West GLH was added to AK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AIRE Louise Daugherty Source North West GLH was added to AIRE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AICDA Louise Daugherty Source North West GLH was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ADAR Louise Daugherty Source North West GLH was added to ADAR.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ADA2 Louise Daugherty Source North West GLH was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ADA Louise Daugherty Source North West GLH was added to ADA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ACP5 Louise Daugherty Source North West GLH was added to ACP5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ACD Louise Daugherty Source North West GLH was added to ACD.
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Classified gene: NMNAT2 as Amber List (moderate evidence)
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Added comment: Comment on list classification: NMNAT2 was added to the Fetal anomalies panel and rated Green by Michael Coleman (University of Cambridge). Not yet associated with a disorder in OMIM or Gene2Phenotype. Currently 2 fetal siblings (1 case) in PMID:31136762 and a mouse model. Rated as Amber awaiting clinical feedback and further cases.
Fetal anomalies v0.344 NMNAT2 Rebecca Foulger Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger commented on gene: NMNAT2: PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood onset polyneuropathy with erythromelalgia: symptoms were first seen age 4.
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger commented on gene: NMNAT2
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger Publications for gene: NMNAT2 were set to PMID: 31136762
Intellectual disability v2.1022 SMARCD1 Cristina Dias reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30879640; Phenotypes: developmental delay, intellectual disability, hypotonia, feeding difficulties, small hands, small feet; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Other rare neuromuscular disorders v1.6 PAX7 Cristina Dias gene: PAX7 was added
gene: PAX7 was added to Neuromuscular disorders. Sources: Literature
Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX7 were set to 31092906
Phenotypes for gene: PAX7 were set to Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones
Penetrance for gene: PAX7 were set to Complete
Review for gene: PAX7 was set to GREEN
Added comment: Feichtinger et. al. report four independent consanguineous families with four different (homozygous) mutations in PAX7.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ZBTB24 Louise Daugherty Source London North GLH was added to ZBTB24.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ZAP70 Louise Daugherty Source London North GLH was added to ZAP70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 XIAP Louise Daugherty Source London North GLH was added to XIAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 WIPF1 Louise Daugherty Source London North GLH was added to WIPF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 WAS Louise Daugherty Source London North GLH was added to WAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 VPS45 Louise Daugherty Source London North GLH was added to VPS45.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 VPS13B Louise Daugherty Source London North GLH was added to VPS13B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 USB1 Louise Daugherty Source London North GLH was added to USB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 UNG Louise Daugherty Source London North GLH was added to UNG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 UNC93B1 Louise Daugherty Source London North GLH was added to UNC93B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 UNC13D Louise Daugherty Source London North GLH was added to UNC13D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TYK2 Louise Daugherty Source London North GLH was added to TYK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TTC7A Louise Daugherty Source London North GLH was added to TTC7A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TTC37 Louise Daugherty Source London North GLH was added to TTC37.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TRNT1 Louise Daugherty Source London North GLH was added to TRNT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TREX1 Louise Daugherty Source London North GLH was added to TREX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TRAC Louise Daugherty Source London North GLH was added to TRAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TPP2 Louise Daugherty Source London North GLH was added to TPP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TNFRSF1A Louise Daugherty Source London North GLH was added to TNFRSF1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TNFAIP3 Louise Daugherty Source London North GLH was added to TNFAIP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TMEM173 Louise Daugherty Source London North GLH was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TMC8 Louise Daugherty Source London North GLH was added to TMC8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TMC6 Louise Daugherty Source London North GLH was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TLR3 Louise Daugherty Source London North GLH was added to TLR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TICAM1 Louise Daugherty Source London North GLH was added to TICAM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TCN2 Louise Daugherty Source London North GLH was added to TCN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TCF3 Louise Daugherty Source London North GLH was added to TCF3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TBK1 Louise Daugherty Source London North GLH was added to TBK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TAZ Louise Daugherty Source London North GLH was added to TAZ.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TAP2 Louise Daugherty Source London North GLH was added to TAP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TAP1 Louise Daugherty Source London North GLH was added to TAP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STXBP2 Louise Daugherty Source London North GLH was added to STXBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STX11 Louise Daugherty Source London North GLH was added to STX11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STK4 Louise Daugherty Source London North GLH was added to STK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STIM1 Louise Daugherty Source London North GLH was added to STIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT5B Louise Daugherty Source London North GLH was added to STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT3 Louise Daugherty Source London North GLH was added to STAT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT2 Louise Daugherty Source London North GLH was added to STAT2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 STAT1 Louise Daugherty Source London North GLH was added to STAT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SPPL2A Louise Daugherty Source London North GLH was added to SPPL2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SPINK5 Louise Daugherty Source London North GLH was added to SPINK5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SP110 Louise Daugherty Source London North GLH was added to SP110.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SMARCAL1 Louise Daugherty Source London North GLH was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC46A1 Louise Daugherty Source London North GLH was added to SLC46A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC37A4 Louise Daugherty Source London North GLH was added to SLC37A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC35C1 Louise Daugherty Source London North GLH was added to SLC35C1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SLC29A3 Louise Daugherty Source London North GLH was added to SLC29A3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SKIV2L Louise Daugherty Source London North GLH was added to SKIV2L.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SH2D1A Louise Daugherty Source London North GLH was added to SH2D1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SGPL1 Louise Daugherty Source London North GLH was added to SGPL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SERPING1 Louise Daugherty Source London North GLH was added to SERPING1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SBDS Louise Daugherty Source London North GLH was added to SBDS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SAMHD1 Louise Daugherty Source London North GLH was added to SAMHD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RTEL1 Louise Daugherty Source London North GLH was added to RTEL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RPSA Louise Daugherty Source London North GLH was added to RPSA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RORC Louise Daugherty Source London North GLH was added to RORC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RNF168 Louise Daugherty Source London North GLH was added to RNF168.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RNASEH2C Louise Daugherty Source London North GLH was added to RNASEH2C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RNASEH2B Louise Daugherty Source London North GLH was added to RNASEH2B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RNASEH2A Louise Daugherty Source London North GLH was added to RNASEH2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RMRP Louise Daugherty Source London North GLH was added to RMRP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RIPK1 Louise Daugherty Source London North GLH was added to RIPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RFXAP Louise Daugherty Source London North GLH was added to RFXAP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RFXANK Louise Daugherty Source London North GLH was added to RFXANK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RFX5 Louise Daugherty Source London North GLH was added to RFX5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RBCK1 Louise Daugherty Source London North GLH was added to RBCK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RASGRP1 Louise Daugherty Source London North GLH was added to RASGRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RAG2 Louise Daugherty Source London North GLH was added to RAG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RAG1 Louise Daugherty Source London North GLH was added to RAG1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 RAB27A Louise Daugherty Source London North GLH was added to RAB27A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PTPRC Louise Daugherty Source London North GLH was added to PTPRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PSTPIP1 Louise Daugherty Source London North GLH was added to PSTPIP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PSMB8 Louise Daugherty Source London North GLH was added to PSMB8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PRKDC Louise Daugherty Source London North GLH was added to PRKDC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PRKCD Louise Daugherty Source London North GLH was added to PRKCD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PRF1 Louise Daugherty Source London North GLH was added to PRF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 POLA1 Louise Daugherty Source London North GLH was added to POLA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PNP Louise Daugherty Source London North GLH was added to PNP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PLCG2 Louise Daugherty Source London North GLH was added to PLCG2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PIK3R1 Louise Daugherty Source London North GLH was added to PIK3R1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PIK3CD Louise Daugherty Source London North GLH was added to PIK3CD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PGM3 Louise Daugherty Source London North GLH was added to PGM3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PEPD Louise Daugherty Source London North GLH was added to PEPD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 PARN Louise Daugherty Source London North GLH was added to PARN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 OTULIN Louise Daugherty Source London North GLH was added to OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ORAI1 Louise Daugherty Source London North GLH was added to ORAI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NSMCE3 Louise Daugherty Source London North GLH was added to NSMCE3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NRAS Louise Daugherty Source London North GLH was added to NRAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NOD2 Louise Daugherty Source London North GLH was added to NOD2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP3 Louise Daugherty Source London North GLH was added to NLRP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP12 Louise Daugherty Source London North GLH was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP1 Louise Daugherty Source London North GLH was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRC4 Louise Daugherty Source London North GLH was added to NLRC4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NHP2 Louise Daugherty Source London North GLH was added to NHP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NHEJ1 Louise Daugherty Source London North GLH was added to NHEJ1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NFKBIA Louise Daugherty Source London North GLH was added to NFKBIA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NFKB2 Louise Daugherty Source London North GLH was added to NFKB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NFKB1 Louise Daugherty Source London North GLH was added to NFKB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NCF4 Louise Daugherty Source London North GLH was added to NCF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NCF2 Louise Daugherty Source London North GLH was added to NCF2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NCF1 Louise Daugherty Source London North GLH was added to NCF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NBN Louise Daugherty Source London North GLH was added to NBN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MYSM1 Louise Daugherty Source London North GLH was added to MYSM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MYO5B Louise Daugherty Source London North GLH was added to MYO5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MYD88 Louise Daugherty Source London North GLH was added to MYD88.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MVK Louise Daugherty Source London North GLH was added to MVK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MTHFD1 Louise Daugherty Source London North GLH was added to MTHFD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MSN Louise Daugherty Source London North GLH was added to MSN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MOGS Louise Daugherty Source London North GLH was added to MOGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MEFV Louise Daugherty Source London North GLH was added to MEFV.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MCM4 Louise Daugherty Source London North GLH was added to MCM4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MAP3K14 Louise Daugherty Source London North GLH was added to MAP3K14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MALT1 Louise Daugherty Source London North GLH was added to MALT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 MAGT1 Louise Daugherty Source London North GLH was added to MAGT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LYST Louise Daugherty Source London North GLH was added to LYST.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LRBA Louise Daugherty Source London North GLH was added to LRBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LPIN2 Louise Daugherty Source London North GLH was added to LPIN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LIG4 Louise Daugherty Source London North GLH was added to LIG4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LCK Louise Daugherty Source London North GLH was added to LCK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LAT Louise Daugherty Source London North GLH was added to LAT.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 LAMTOR2 Louise Daugherty Source London North GLH was added to LAMTOR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 JAK3 Louise Daugherty Source London North GLH was added to JAK3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 JAGN1 Louise Daugherty Source London North GLH was added to JAGN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ITK Louise Daugherty Source London North GLH was added to ITK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ITGB2 Louise Daugherty Source London North GLH was added to ITGB2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ITCH Louise Daugherty Source London North GLH was added to ITCH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ISG15 Louise Daugherty Source London North GLH was added to ISG15.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IRF8 Louise Daugherty Source London North GLH was added to IRF8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IRAK4 Louise Daugherty Source London North GLH was added to IRAK4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 INO80 Louise Daugherty Source London North GLH was added to INO80.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL7R Louise Daugherty Source London North GLH was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL36RN Louise Daugherty Source London North GLH was added to IL36RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL2RG Louise Daugherty Source London North GLH was added to IL2RG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL2RA Louise Daugherty Source London North GLH was added to IL2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL21R Louise Daugherty Source London North GLH was added to IL21R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL1RN Louise Daugherty Source London North GLH was added to IL1RN.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL17RC Louise Daugherty Source London North GLH was added to IL17RC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL17RA Louise Daugherty Source London North GLH was added to IL17RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL12RB1 Louise Daugherty Source London North GLH was added to IL12RB1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL12B Louise Daugherty Source London North GLH was added to IL12B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL10RB Louise Daugherty Source London North GLH was added to IL10RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL10RA Louise Daugherty Source London North GLH was added to IL10RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL10 Louise Daugherty Source London North GLH was added to IL10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKZF1 Louise Daugherty Source London North GLH was added to IKZF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKBKG Louise Daugherty Source London North GLH was added to IKBKG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IKBKB Louise Daugherty Source London North GLH was added to IKBKB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IGLL1 Louise Daugherty Source London North GLH was added to IGLL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IGHM Louise Daugherty Source London North GLH was added to IGHM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IFNGR2 Louise Daugherty Source London North GLH was added to IFNGR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IFNGR1 Louise Daugherty Source London North GLH was added to IFNGR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IFIH1 Louise Daugherty Source London North GLH was added to IFIH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ICOS Louise Daugherty Source London North GLH was added to ICOS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HTRA2 Louise Daugherty Source London North GLH was added to HTRA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HPS6 Louise Daugherty Source London North GLH was added to HPS6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HPS4 Louise Daugherty Source London North GLH was added to HPS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HPS1 Louise Daugherty Source London North GLH was added to HPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HELLS Louise Daugherty Source London North GLH was added to HELLS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 HAX1 Louise Daugherty Source London North GLH was added to HAX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 GINS1 Louise Daugherty Source London North GLH was added to GINS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 GFI1 Louise Daugherty Source London North GLH was added to GFI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 GATA2 Louise Daugherty Source London North GLH was added to GATA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 GATA1 Louise Daugherty Source London North GLH was added to GATA1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 G6PD Louise Daugherty Source London North GLH was added to G6PD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 G6PC3 Louise Daugherty Source London North GLH was added to G6PC3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FOXP3 Louise Daugherty Source London North GLH was added to FOXP3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FOXN1 Louise Daugherty Source London North GLH was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FERMT3 Louise Daugherty Source London North GLH was added to FERMT3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FAT4 Louise Daugherty Source London North GLH was added to FAT4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FASLG Louise Daugherty Source London North GLH was added to FASLG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FAS Louise Daugherty Source London North GLH was added to FAS.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FADD Louise Daugherty Source London North GLH was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 F12 Louise Daugherty Source London North GLH was added to F12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 EXTL3 Louise Daugherty Source London North GLH was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ERCC6L2 Louise Daugherty Source London North GLH was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 EPG5 Louise Daugherty Source London North GLH was added to EPG5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ELANE Louise Daugherty Source London North GLH was added to ELANE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DOCK8 Louise Daugherty Source London North GLH was added to DOCK8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DOCK2 Louise Daugherty Source London North GLH was added to DOCK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DNMT3B Louise Daugherty Source London North GLH was added to DNMT3B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DNASE2 Louise Daugherty Source London North GLH was added to DNASE2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DNAJC21 Louise Daugherty Source London North GLH was added to DNAJC21.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DKC1 Louise Daugherty Source London North GLH was added to DKC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DCLRE1C Louise Daugherty Source London North GLH was added to DCLRE1C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DCLRE1B Louise Daugherty Source London North GLH was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CYBB Louise Daugherty Source London North GLH was added to CYBB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CYBA Louise Daugherty Source London North GLH was added to CYBA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CXCR4 Louise Daugherty Source London North GLH was added to CXCR4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CTSC Louise Daugherty Source London North GLH was added to CTSC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CTPS1 Louise Daugherty Source London North GLH was added to CTPS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CTLA4 Louise Daugherty Source London North GLH was added to CTLA4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CSF3R Louise Daugherty Source London North GLH was added to CSF3R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CSF2RB Louise Daugherty Source London North GLH was added to CSF2RB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CSF2RA Louise Daugherty Source London North GLH was added to CSF2RA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CORO1A Louise Daugherty Source London North GLH was added to CORO1A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 COPA Louise Daugherty Source London North GLH was added to COPA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CLPB Louise Daugherty Source London North GLH was added to CLPB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CIITA Louise Daugherty Source London North GLH was added to CIITA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CHD7 Louise Daugherty Source London North GLH was added to CHD7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFP Louise Daugherty Source London North GLH was added to CFP.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFI Louise Daugherty Source London North GLH was added to CFI.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFH Louise Daugherty Source London North GLH was added to CFH.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFD Louise Daugherty Source London North GLH was added to CFD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CFB Louise Daugherty Source London North GLH was added to CFB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CEBPE Louise Daugherty Source London North GLH was added to CEBPE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CDCA7 Louise Daugherty Source London North GLH was added to CDCA7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD79B Louise Daugherty Source London North GLH was added to CD79B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD79A Louise Daugherty Source London North GLH was added to CD79A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD70 Louise Daugherty Source London North GLH was added to CD70.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD59 Louise Daugherty Source London North GLH was added to CD59.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD55 Louise Daugherty Source London North GLH was added to CD55.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD46 Louise Daugherty Source London North GLH was added to CD46.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD40LG Louise Daugherty Source London North GLH was added to CD40LG.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD40 Louise Daugherty Source London North GLH was added to CD40.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD3G Louise Daugherty Source London North GLH was added to CD3G.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD3E Louise Daugherty Source London North GLH was added to CD3E.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD3D Louise Daugherty Source London North GLH was added to CD3D.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD27 Louise Daugherty Source London North GLH was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD19 Louise Daugherty Source London North GLH was added to CD19.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CCBE1 Louise Daugherty Source London North GLH was added to CCBE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CASP8 Louise Daugherty Source London North GLH was added to CASP8.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CASP10 Louise Daugherty Source London North GLH was added to CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARMIL2 Louise Daugherty Source London North GLH was added to CARMIL2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARD9 Louise Daugherty Source London North GLH was added to CARD9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARD14 Louise Daugherty Source London North GLH was added to CARD14.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CARD11 Louise Daugherty Source London North GLH was added to CARD11.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C9 Louise Daugherty Source London North GLH was added to C9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C8B Louise Daugherty Source London North GLH was added to C8B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C8A Louise Daugherty Source London North GLH was added to C8A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C7 Louise Daugherty Source London North GLH was added to C7.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C6 Louise Daugherty Source London North GLH was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C5 Louise Daugherty Source London North GLH was added to C5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C4B Louise Daugherty Source London North GLH was added to C4B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C4A Louise Daugherty Source London North GLH was added to C4A.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C3 Louise Daugherty Source London North GLH was added to C3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C2 Louise Daugherty Source London North GLH was added to C2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1S Louise Daugherty Source London North GLH was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1R Louise Daugherty Source London North GLH was added to C1R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1QC Louise Daugherty Source London North GLH was added to C1QC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1QB Louise Daugherty Source London North GLH was added to C1QB.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1QA Louise Daugherty Source London North GLH was added to C1QA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BTK Louise Daugherty Source London North GLH was added to BTK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BLNK Louise Daugherty Source London North GLH was added to BLNK.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BLM Louise Daugherty Source London North GLH was added to BLM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 BACH2 Louise Daugherty Source London North GLH was added to BACH2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 B2M Louise Daugherty Source London North GLH was added to B2M.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ATP6AP1 Louise Daugherty Source London North GLH was added to ATP6AP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ATM Louise Daugherty Source London North GLH was added to ATM.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ARPC1B Louise Daugherty Source London North GLH was added to ARPC1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AP3B1 Louise Daugherty Source London North GLH was added to AP3B1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AK2 Louise Daugherty Source London North GLH was added to AK2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AIRE Louise Daugherty Source London North GLH was added to AIRE.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AICDA Louise Daugherty Source London North GLH was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ADA2 Louise Daugherty Source London North GLH was added to ADA2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ADA Louise Daugherty Source London North GLH was added to ADA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ACP5 Louise Daugherty Source London North GLH was added to ACP5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ACD Louise Daugherty Source London North GLH was added to ACD.
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger commented on gene: ANAPC1: Added ANAPC1 to the Fetal anomalies panel and rated Green on approval from Anna de Burca and Richard Scott (Genomics England Clinical team). Note yet associated with a disorder in OMIM but evidence comes from PMID:31303264 (Ajeawung et al., 2019) where they report 10 individuals (7 families including 3 families of Amish ancestry) with Rothmund-Thomson Syndrome Type 1 and biallelic variants in ANAPC1. Phenotype includes skeletal abnormalities and short stature. All individuals carried an intronic splicing variant (NM_022662.3:c.2705−198C>T): in 3 Amish families plus individual 4, this intronic variant was found in a homozygous state. In the remaining families, the intronic variant was found in trans with one of three other LOF variants. Therefore sufficient cases to support a Green rating plus fetally-relevant phenotype.
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger gene: ANAPC1 was added
gene: ANAPC1 was added to Fetal anomalies. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
Thoracic aortic aneurysm or dissection (GMS) v0.30 FBN2 Ivone Leong Classified gene: FBN2 as Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.30 FBN2 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on expert reviews.
Thoracic aortic aneurysm or dissection (GMS) v0.30 FBN2 Ivone Leong Gene: fbn2 has been classified as Green List (High Evidence).
Lysosomal storage disorder v0.10 Sarah Leigh List of related panels changed from to R276
Neuronal ceroid lipofuscinosis v0.9 Sarah Leigh List of related panels changed from to R231
Lysosomal storage disorder v0.9 LAMP2 Sarah Leigh Mode of inheritance for gene: LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v1.9 ISCU Sarah Leigh Classified gene: ISCU as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v1.9 ISCU Sarah Leigh Added comment: Comment on list classification: Sufficient published reported biallelic cases, with supportive functional studies. The most frequent reported variant c.343+382G>C g.108567650G>C is deep in intron five of the gene and strengthens a weak splicing acceptor site, with consequent retention of a 100-bp intronic sequence upstream of the known terminal exon, introduction of a stop codon and decreased levels of ISCU mRNA and protein (PMID 18304497). This may be missed by standard sequencing.
Possible mitochondrial disorder - nuclear genes v1.9 ISCU Sarah Leigh Gene: iscu has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v1.8 ISCU Sarah Leigh Publications for gene: ISCU were set to 18296749; 29079705; 19567699; 20206689
Possible mitochondrial disorder - nuclear genes v1.7 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.6 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Possible mitochondrial disorder - nuclear genes v1.6 ISCU Sarah Leigh Publications for gene: ISCU were set to
Possible mitochondrial disorder - nuclear genes v1.5 ISCU Sarah Leigh Added comment: Comment on mode of inheritance: A recently reported de novo dominant variant in ISCU associated with mitochondrial myopathy (PMID 29079705), justifies the mode of inheritance listed here (in consultation with the GMS Mitochondrial specialist test group).
Possible mitochondrial disorder - nuclear genes v1.5 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.4 FH Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants are associated with Leiomyomatosis and renal cell cancer 150800, however, this phenotype is not appropriate for this panel (in consultation with the GMS Mitochondrial specialist test group).
Possible mitochondrial disorder - nuclear genes v1.4 FH Sarah Leigh Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812 to Fumarase deficiency 606812
Possible mitochondrial disorder - nuclear genes v1.3 FH Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for this gene is listed as bialleic, for Fumarase deficiency 606812. Monoallelic variants are associated with Leiomyomatosis and renal cell cancer 150800, which is not appropriate for this panel (in consultation with the GMS Mitochondrial specialist test group).
Possible mitochondrial disorder - nuclear genes v1.3 FH Sarah Leigh Mode of inheritance for gene: FH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.88 CSPP1 Ivone Leong Source Expert Review Amber was added to CSPP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 WNT3 Ivone Leong Source Expert Review Amber was added to WNT3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 TUBB Ivone Leong Source Expert Review Amber was added to TUBB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 SNX3 Ivone Leong Source Expert Review Amber was added to SNX3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 SMG9 Ivone Leong Source Expert Review Amber was added to SMG9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 SLC25A24 Ivone Leong Source Expert Review Amber was added to SLC25A24.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 TMEM5 Ivone Leong Source Expert Review Amber was added to TMEM5.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 RIPK4 Ivone Leong Source Expert Review Amber was added to RIPK4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 RERE Ivone Leong Source Expert Review Amber was added to RERE.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 POMGNT2 Ivone Leong Source Expert Review Amber was added to POMGNT2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 POMGNT1 Ivone Leong Source Expert Review Amber was added to POMGNT1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCL Ivone Leong Source Expert Review Amber was added to FANCL.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 NDUFB11 Ivone Leong Source Expert Review Amber was added to NDUFB11.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 MAPRE2 Ivone Leong Source Expert Review Amber was added to MAPRE2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 KIF11 Ivone Leong Source Expert Review Amber was added to KIF11.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 KDM6A Ivone Leong Source Expert Review Amber was added to KDM6A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 IKBKG Ivone Leong Source Expert Review Amber was added to IKBKG.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FKTN Ivone Leong Source Expert Review Amber was added to FKTN.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCI Ivone Leong Source Expert Review Amber was added to FANCI.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCE Ivone Leong Source Expert Review Amber was added to FANCE.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCD2 Ivone Leong Source Expert Review Amber was added to FANCD2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 FANCA Ivone Leong Source Expert Review Amber was added to FANCA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 ESCO2 Ivone Leong Source Expert Review Amber was added to ESCO2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 DOCK6 Ivone Leong Source Expert Review Amber was added to DOCK6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 DAG1 Ivone Leong Source Expert Review Amber was added to DAG1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.88 COX7B Ivone Leong Source Expert Review Amber was added to COX7B.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.87 ALX1 Ivone Leong Classified gene: ALX1 as Amber List (moderate evidence)
Structural eye disease v0.87 ALX1 Ivone Leong Gene: alx1 has been classified as Amber List (Moderate Evidence).
Structural eye disease v0.86 ALX3 Ivone Leong Classified gene: ALX3 as Amber List (moderate evidence)
Structural eye disease v0.86 ALX3 Ivone Leong Gene: alx3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v0.85 B3GALNT2 Ivone Leong Classified gene: B3GALNT2 as Amber List (moderate evidence)
Structural eye disease v0.85 B3GALNT2 Ivone Leong Gene: b3galnt2 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v0.13 ISCA-37431-Loss Ivone Leong Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Cardiomyopathies - including childhood onset. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NF1 MICRODELETION SYNDROME; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Optic neuropathy v1.118 Ivone Leong List of related panels changed from Inherited optic neuropathies; R41 to Inherited optic neuropathies; R41; R42.2
Leber hereditary optic neuropathy v0.5 Ivone Leong List of related panels changed from to R42
DDG2P v1.81 CYP27A1 Rebecca Foulger commented on gene: CYP27A1
DDG2P v1.81 ANAPC1 Rebecca Foulger commented on gene: ANAPC1
DDG2P v1.81 CYP27A1 Rebecca Foulger gene: CYP27A1 was added
gene: CYP27A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 2019602; 16278884
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
DDG2P v1.81 ANAPC1 Rebecca Foulger gene: ANAPC1 was added
gene: ANAPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
Leber hereditary optic neuropathy v0.2 MT-ND6 Ivone Leong gene: MT-ND6 was added
gene: MT-ND6 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Publications for gene: MT-ND6 were set to 26448634; 24884847; 24398099; 24417559
Phenotypes for gene: MT-ND6 were set to severe infantile-onset complex I deficiency; Nystagmus; Leber hereditary optic neuropathy
Leber hereditary optic neuropathy v0.2 MT-ND4 Ivone Leong gene: MT-ND4 was added
gene: MT-ND4 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Publications for gene: MT-ND4 were set to 26448634; 27159682; 23665487; 23805034; 26683077; 22553750; 20301353
Phenotypes for gene: MT-ND4 were set to Leber's hereditary optic neuropathy
Leber hereditary optic neuropathy v0.2 MT-ND1 Ivone Leong gene: MT-ND1 was added
gene: MT-ND1 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Publications for gene: MT-ND1 were set to 26448634; 24884847; 27449621; 23665487; 24800637; 27177320; 20301353
Phenotypes for gene: MT-ND1 were set to Leber's hereditary optic neuropathy; External ophthalmoplegia; Optic neuropathy and nystagmus
Intellectual disability v2.1022 CACNA2D2 Konstantinos Varvagiannis gene: CACNA2D2 was added
gene: CACNA2D2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424
Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay (MIM 618501)
Penetrance for gene: CACNA2D2 were set to Complete
Review for gene: CACNA2D2 was set to AMBER
gene: CACNA2D2 was marked as current diagnostic
Added comment: Gene reviewed for the epilepsy panel. Due to the phenotype of EE, with variable GDD (severe in many cases) and/or ID (either specifically commented on or inferred in some cases, although not universal) this gene might also be relevant for the current panel. CACNA2D2 is also included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx) as well as the SysID database. There is no associated phenotype in G2P.

Copied from the epilepsy panel:

Biallelic pathogenic CACNA2D2 variants cause Cerebellar atrophy with seizures and variable developmental delay (MIM 618501).

A recent OMIM update, a subsequent relevant publication by Punatha et al. as well as several additional LP/P variants in ClinVar for the phenotype of epileptic encephalopathy, support possible upgrade to green.

The following affected individuals appear to be relevant [NM_006030.3 used as RefSeq unless otherwise specified]:

[1] Edvardson et al. (PMID: 23339110) - 3 sibs born to consanguineous parents with EIEE, severe GDD / ID (inferred from the descritpion, at least for the oldest one), cerebellar atrophy and movement abnormalities. A CACNA2D2 variant (c.3137T>C / p.Leu1046Pro) was found in affected individuals by SNP-arrays and WES in one of them. Functional studies (reduction in current density of calcium channels in Xenopus laevis oocytes) supported the deleterious effect of the variant. A role of a rare hmz CESLR3 variant could not be ruled out.

[2] Pippucci et al. (PMID: 24358150) - 1 individual born to consanguineous parents, presenting with EE (onset at 1-2 m), severe GDD, cerebellar atrophy and choreiform movements. Homozygosity for a LoF variant (c.1294delA - p.Asn432fs) was found by WES. The role of the variant was further supported by expression studies (80% reduced mRNA levels, protein levels estimated at 3% of control / milder effect in htz parents). The proband was also hmz for a CESLR3 variant. Previous studies incl. 'high-resolution karyotype' and metabolic investigations.

[3] Butler et al. (PMID: 30410802) - A 5 y.o. male, with EE (seizure onset at 7m / GDD) and cerebellar atrophy. Compound heterozygosity for c.782C>T (p.Pro261Leu) and c.3137T>C (p.Leu1046Pro) was demonstrated by WES and supported by segregation studies.

[4] Valence et al. (PMID: 29997391) - Reported on a 20 y.o. male belonging to a cohort of 20 individuals with congenital ataxia, all from consaguineous families. This individual, who had cerebellar atrophy, ataxia, a single episode of febrile seizures and normal cognitive impairment was homozygosity for c.2971G>A (p.Asp991Asn). RT-PCR revealed presence of a normal length transcript as well as an additional, longer one, due to a concurrent splicing effect (activation of a cryptic donor splice site and retention of 4 bases of intronic sequence). Presence of both nl/abn length transcripts was presumed to explain the mild phenotype (variability also commented in OMIM).

[5] Punatha et al. (PMID: 31402629) - 3 affected individuals from 2 consanguineous families presenting with early onset EE (onset 1-7m), GDD/ID, cerebelar atrophy and ataxia. Sibs from the first family were homozygous for c.1778G>C (p.Arg593Pro). An affected 5 y.o. child from the 2nd family was homozygous for c.485_486delAT (p.Tyr162Ter). Mutations were found by WES in regions of AOH.

The following variants - not reported in the literature - have been submitted in ClinVar as LP / P for EE:
[VCV000645106.1] NM_006030.4:c.1389+2T>C - EIEE with suppression bursts - Likely Pathogenic (Invitae)
[VCV000570589.1] NM_006030.4:c.1956_1960del (p.Asn652fs) - EIEE - Pathogenic (Invitae)
[VCV000578284.1] NM_006030.4:c.1555C>T (p.Gln519Ter) - EIEE - Pathogenic (Invitae)
[VCV000653393.1] NM_006030.4:c.851dup (p.Ala286fs) - EIEE with suppression bursts - Pathogenic (Invitae)
[VCV000411003.1] NM_006030.4:c.485_486del (p.Tyr161_Tyr162insTer) - EIEE - Pathogenic (Invitae)

Additional ones have been reported as LP / P although the condition is not specified.
[VCV000620551.1] NM_006030.4:c.1023C>A (p.Cys341Ter) - Likely pathogenic (GeneDx)
[VCV000373439.2] NM_006030.4:c.1846-1G>A - Likely pathogenic (GeneDx)
[VCV000423330.2] NM_006030.4:c.200dup (p.His68fs) - Pathogenic (GeneDx).

The aforementioned laboratories include CACNA2D2 in gene panels for epilepsy (Invitae) and/or ID (GeneDx).

A role for the CACNA2D2 is supported by :
- The highly overlapping features (with the exception of the milder phenotype reported by Valence et al.) incl. early onset of seizures, GDD, cerebellar atrophy in all (9/9 incl. the individual reported by Valence, as evaluated Punatha et al). Ataxia was a feature in many (with movement abnormalities also in the remaining ones).
- The role of the gene encoding the alpha-2-delta-2 auxiliary subunit of high voltage-gated calcium channels. Auxiliary subunits modulate calcium current and channel activation and inactivation kinetics, and may be involved in proper assembly and membrane localization of the channels (summary by Edvardson and OMIM).
- Functional / expression studies for some of the variants (as in Refs 1,2,4).
- Relevant expression patterns (notably in cerebellum) [GTEx project]
- Mouse models recapitulating the human phenotypes (summarized by Edvardson et al) : The 'ducky' mouse model (due to biallelic Cacna2d2 mutations) presenting absence epilepsy, spike-wave seizures and ataxia. Dysgenesis of the cerebellum is among the neuropathological findings (PMIDs cited : 11487633, 11756448, 4177347). The 'entla' mouse model (also AR due to an in-frame duplication) presents also epilepsy and ataxia (PMID : 14660671). Targeted knockout in another mouse model resulted also in ataxic gait, seizure susceptibility and cerebellar anomalies/degeneration (PMID: 15331424).

[Please consider inclusion in other relevant panels eg. for cerebellar anomalies / ataxia].
Sources: Literature
Early onset or syndromic epilepsy v1.329 CACNA2D2 Konstantinos Varvagiannis reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Phenotypes: Cerebellar atrophy with seizures and variable developmental delay (MIM 618501); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset leukodystrophy v0.21 KIF5A Louise Daugherty changed review comment from: Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.; to: Review and Green rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.
Adult onset leukodystrophy v0.21 KIF5A Louise Daugherty edited their review of gene: KIF5A: Added comment: Red review to flag up for further discussion with GMS Neurology Specialist Test Group due to review from David Lynch; Changed rating: RED
Adult onset leukodystrophy v0.21 TYMP Louise Daugherty Classified gene: TYMP as Green List (high evidence)
Adult onset leukodystrophy v0.21 TYMP Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases, and external review all support gene-disease association.
Adult onset leukodystrophy v0.21 TYMP Louise Daugherty Gene: tymp has been classified as Green List (High Evidence).
Adult onset leukodystrophy v0.20 SNORD118 Louise Daugherty Classified gene: SNORD118 as Green List (high evidence)
Adult onset leukodystrophy v0.20 SNORD118 Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases, and external review all support gene-disease association.
Adult onset leukodystrophy v0.20 SNORD118 Louise Daugherty Gene: snord118 has been classified as Green List (High Evidence).
Adult onset leukodystrophy v0.19 SNORD118 David Lynch reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TYMP David Lynch reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ZFYVE26 David Lynch reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TYROBP David Lynch reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TUBB4A David Lynch reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TREX1 David Lynch reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 TREM2 David Lynch reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 SPG11 David Lynch reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 SAMHD1 David Lynch reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RPS6KA3 David Lynch reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNF216 David Lynch reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNASET2 David Lynch reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNASEH2C David Lynch reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNASEH2B David Lynch reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 RNASEH2A David Lynch reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PTEN David Lynch reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PSAP David Lynch reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 POLR3B David Lynch reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 POLR3A David Lynch reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 POLR1C David Lynch reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PLP1 David Lynch reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX7 David Lynch reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX6 David Lynch reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX5 David Lynch reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX3 David Lynch reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX26 David Lynch reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX2 David Lynch reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX19 David Lynch reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX16 David Lynch reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX14 David Lynch reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX13 David Lynch reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX12 David Lynch reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX11B David Lynch reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX10 David Lynch reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PEX1 David Lynch reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 PAH David Lynch reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 OCRL David Lynch reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 NOTCH3 David Lynch reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 MTHFR David Lynch reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 MCOLN1 David Lynch reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 MARS David Lynch reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 LMNB1 David Lynch reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 L2HGDH David Lynch reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 KIF5A David Lynch reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 HTRA1 David Lynch reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 HMGCL David Lynch reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 HEXA David Lynch reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 HEPACAM David Lynch reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GLB1 David Lynch reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GLA David Lynch reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GJC2 David Lynch reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GJB1 David Lynch reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GJA1 David Lynch reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GFAP David Lynch reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GBE1 David Lynch reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 GALC David Lynch reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B5 David Lynch reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B4 David Lynch reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B3 David Lynch reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B2 David Lynch reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EIF2B1 David Lynch reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 EARS2 David Lynch reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 DARS2 David Lynch reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 DARS David Lynch reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CYP27A1 David Lynch reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CTSA David Lynch reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CTC1 David Lynch reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CSF1R David Lynch reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 COL4A2 David Lynch reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 COL4A1 David Lynch reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 CLCN2 David Lynch reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ARSA David Lynch reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ALDH3A2 David Lynch reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ADAR David Lynch reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 ABCD1 David Lynch reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 AARS2 David Lynch reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.19 AARS David Lynch reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.18 TYMP Louise Daugherty gene: TYMP was added
gene: TYMP was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to 9924029; 12177387; 14757860; 16178026
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Leukoencephalopathy
Review for gene: TYMP was set to GREEN
Added comment: New green gene recommended by external expert David Lynch UCL Institute of Neurology
Sources: Expert list
Adult onset leukodystrophy v0.17 SNORD118 Louise Daugherty gene: SNORD118 was added
gene: SNORD118 was added to White matter disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561
Review for gene: SNORD118 was set to GREEN
Added comment: New green gene recommended by external expert David Lynch UCL Institute of Neurology
Sources: Expert list
Likely inborn error of metabolism v1.264 PTS Ivone Leong Classified gene: PTS as Green List (high evidence)
Likely inborn error of metabolism v1.264 PTS Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. PTS is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism v1.264 PTS Ivone Leong Gene: pts has been classified as Green List (High Evidence).
Adult onset leukodystrophy v0.16 Louise Daugherty List of related panels changed from to R62
Likely inborn error of metabolism v1.263 PTS Ivone Leong Phenotypes for gene: PTS were changed from Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) to Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism); Hyperphenylalaninemia, BH4-deficient, A 261640
Likely inborn error of metabolism v1.262 PSPH Ivone Leong reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 9222972, 25080166; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.47 CEP63 Louise Daugherty Publications for gene: CEP63 were set to 21983783,
Cerebral vascular malformations v1.46 SAMHD1 Louise Daugherty Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Cerebral vascular malformations v1.45 SAMHD1 Louise Daugherty Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Cerebral vascular malformations v1.44 SAMHD1 Louise Daugherty Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Cerebral vascular malformations v1.44 SAMHD1 Louise Daugherty Publications for gene: SAMHD1 were set to 21402907, 20653736
Cerebral vascular malformations v1.43 PDCD10 Louise Daugherty Publications for gene: PDCD10 were set to 20301470, 15543491
Cerebral vascular malformations v1.42 NOTCH3 Louise Daugherty Publications for gene: NOTCH3 were set to 8878478, 20301673
Cerebral vascular malformations v1.41 KRIT1 Louise Daugherty Publications for gene: KRIT1 were set to 10508515, 20301470
Cerebral vascular malformations v1.40 GUCY1A3 Louise Daugherty Publications for gene: GUCY1A3 were set to 24581742, 26777256
Cerebral vascular malformations v1.39 CCM2 Louise Daugherty Publications for gene: CCM2 were set to 20301470, 14624391
Short QT syndrome v1.20 SLC4A3 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to SLC4A3.
Short QT syndrome v1.20 SLC22A5 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to SLC22A5.
Short QT syndrome v1.20 KCNQ1 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNQ1.
Short QT syndrome v1.20 KCNJ2 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNJ2.
Short QT syndrome v1.20 KCNH2 Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to KCNH2.
Short QT syndrome v1.20 CACNA1C Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to CACNA1C.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.57 SAMD9L Louise Daugherty Added comment: Comment on publications: Added PMID: 28202457 Tesi et al, Gain of function SAMD9L muttaiosn caise a syndorme of cytopenaia, immunodefiency, MDS and neurological symptoms BLOOD, 2017, 2266-2279 suggested by Kimberly Gilmour (LNGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.57 SAMD9L Louise Daugherty Publications for gene: SAMD9L were set to
Hereditary systemic amyloidosis v0.18 B2M Eleanor Williams Phenotypes for gene: B2M were changed from 105200 to ?Amyloidosis, familial visceral 105200
Hereditary systemic amyloidosis v0.17 LYZ Eleanor Williams Phenotypes for gene: LYZ were changed from 105200 to Amyloidosis, renal 105200
Primary immunodeficiency or monogenic inflammatory bowel disease v1.56 WDR1 Louise Daugherty Added comment: Comment on publications: Added PMID: 27557945 Kuhns, D et al Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency BLOOD 2019, 2135-2143 suggested by Kimberly Gilmour (LNGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.56 WDR1 Louise Daugherty Publications for gene: WDR1 were set to
Hereditary systemic amyloidosis v0.16 GSN Eleanor Williams Phenotypes for gene: GSN were changed from 105120 to Amyloidosis, Finnish type 105120
Hereditary systemic amyloidosis v0.15 FGA Eleanor Williams Phenotypes for gene: FGA were changed from 105200 to Amyloidosis, familial visceral 105200
Hereditary systemic amyloidosis v0.14 APOA1 Eleanor Williams Phenotypes for gene: APOA1 were changed from 105200 to Amyloidosis, 3 or more types 105200
Hereditary systemic amyloidosis v0.13 CST3 Eleanor Williams Phenotypes for gene: CST3 were changed from 105150 to Cerebral amyloid angiopathy 105150
Hereditary systemic amyloidosis v0.12 CST3 Eleanor Williams Publications for gene: CST3 were set to 2900981
Hereditary systemic amyloidosis v0.11 CST3 Eleanor Williams Classified gene: CST3 as Amber List (moderate evidence)
Hereditary systemic amyloidosis v0.11 CST3 Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic cases from a non-Icelandic individual.
Hereditary systemic amyloidosis v0.11 CST3 Eleanor Williams Gene: cst3 has been classified as Amber List (Moderate Evidence).
Hereditary systemic amyloidosis v0.10 B2M Eleanor Williams Classified gene: B2M as Amber List (moderate evidence)
Hereditary systemic amyloidosis v0.10 B2M Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber as only 1 family has been reported.
Hereditary systemic amyloidosis v0.10 B2M Eleanor Williams Gene: b2m has been classified as Amber List (Moderate Evidence).
Hereditary systemic amyloidosis v0.9 APOC3 Eleanor Williams Classified gene: APOC3 as Amber List (moderate evidence)
Hereditary systemic amyloidosis v0.9 APOC3 Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber as only 1 family reported.
Hereditary systemic amyloidosis v0.9 APOC3 Eleanor Williams Gene: apoc3 has been classified as Amber List (Moderate Evidence).
Hereditary systemic amyloidosis v0.8 Eleanor Williams List of related panels changed from to R204
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 PSMB9 Louise Daugherty changed review comment from: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel.; to: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019. Added digenic tag - from review comment 'Digenic also reported'.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 PSMB4 Louise Daugherty changed review comment from: added digenic tag - from review comment 'Digenic also reported' from NWGLH (Tracy Briggs); to: Review by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019. Added digenic tag - from review comment 'Digenic also reported'.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 PSMA3 Louise Daugherty changed review comment from: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel.; to: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty commented on gene: CARD14: Review suggest from Tracy Briggs on behalf of North West GLH notes that Somatic mutations cause Ras-associated autoimmune leukoproliferative disorder (RALD)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty Added comment: Comment on publications: Added publications 30248356; 29980436 suggested by Kimberly Gilmour (London North GLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel to support Green review. This gene needs discussing with The Immunology Specialist Test Group in view of dermatological presentation rather than immunological
Primary immunodeficiency or monogenic inflammatory bowel disease v1.55 CARD14 Louise Daugherty Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250; 23711932
Thoracic aortic aneurysm or dissection (GMS) v0.29 TGFB3 Ivone Leong Classified gene: TGFB3 as Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.29 TGFB3 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Thoracic aortic aneurysm or dissection (GMS) v0.29 TGFB3 Ivone Leong Gene: tgfb3 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.28 CBS Ivone Leong Classified gene: CBS as Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.28 CBS Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on evidence provided by expert reviews.
Thoracic aortic aneurysm or dissection (GMS) v0.28 CBS Ivone Leong Gene: cbs has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.27 SLC2A10 Ivone Leong Classified gene: SLC2A10 as Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.27 SLC2A10 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Thoracic aortic aneurysm or dissection (GMS) v0.27 SLC2A10 Ivone Leong Gene: slc2a10 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.26 COL5A1 Ivone Leong Classified gene: COL5A1 as Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.26 COL5A1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on expert reviews.
Thoracic aortic aneurysm or dissection (GMS) v0.26 COL5A1 Ivone Leong Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.25 COL5A2 Ivone Leong Classified gene: COL5A2 as Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.25 COL5A2 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on expert reviews.
Thoracic aortic aneurysm or dissection (GMS) v0.25 COL5A2 Ivone Leong Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v1.19 KCNQ1 Ivone Leong Publications for gene: KCNQ1 were set to 16226079; 16301704
Short QT syndrome v1.18 KCNJ2 Ivone Leong Publications for gene: KCNJ2 were set to 16226079; 16301704
Short QT syndrome v1.17 KCNH2 Ivone Leong Publications for gene: KCNH2 were set to 16226079; 16301704
Short QT syndrome v1.16 CACNA1C Ivone Leong Publications for gene: CACNA1C were set to 24291113; 16301704
Dilated and arrhythmogenic cardiomyopathy v0.44 TTN Ivone Leong Publications for gene: TTN were set to 20186049; 27532257
Dilated and arrhythmogenic cardiomyopathy v0.43 TNNT2 Ivone Leong Publications for gene: TNNT2 were set to 20186049; 27532257
Dilated and arrhythmogenic cardiomyopathy v0.42 TNNI3 Ivone Leong Publications for gene: TNNI3 were set to 20186049; 27532257
Dilated and arrhythmogenic cardiomyopathy v0.41 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Dilated and arrhythmogenic cardiomyopathy v0.40 RYR2 Ivone Leong Publications for gene: RYR2 were set to 20301310
Arrhythmogenic right ventricular cardiomyopathy v1.36 FLNC Ivone Leong Publications for gene: FLNC were set to 27908349
Arrhythmogenic right ventricular cardiomyopathy v1.35 DSG2 Ivone Leong Publications for gene: DSG2 were set to 27532257; 23500315
Arrhythmogenic right ventricular cardiomyopathy v1.34 DSC2 Ivone Leong Publications for gene: DSC2 were set to 27532257; 23500315
Arrhythmogenic right ventricular cardiomyopathy v1.33 TMEM43 Ivone Leong Publications for gene: TMEM43 were set to 27532257; 23812740
Arrhythmogenic right ventricular cardiomyopathy v1.32 RYR2 Ivone Leong Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/; 19926015; 17875969
Arrhythmogenic right ventricular cardiomyopathy v1.31 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Arrhythmogenic right ventricular cardiomyopathy v1.30 RYR2 Ivone Leong Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Arrhythmogenic right ventricular cardiomyopathy v1.29 PLN Ivone Leong Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Arrhythmogenic right ventricular cardiomyopathy v1.28 DES Ivone Leong Publications for gene: DES were set to
Arrhythmogenic right ventricular cardiomyopathy v1.27 DES Ivone Leong Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Classified gene: FLNC as Green List (high evidence)
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Gene: flnc has been classified as Green List (High Evidence).
Inherited renal cancer v0.39 PTEN Ivone Leong Classified gene: PTEN as Red List (low evidence)
Inherited renal cancer v0.39 PTEN Ivone Leong Added comment: Comment on list classification: PTEN has been demoted from green to red as it was decided that it does not contribute significantly to inherited renal cancer susceptibility.
Inherited renal cancer v0.39 PTEN Ivone Leong Gene: pten has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v1.73 TPM1 Ivone Leong Publications for gene: TPM1 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.72 TNNT2 Ivone Leong Publications for gene: TNNT2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.71 TNNI3 Ivone Leong Publications for gene: TNNI3 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.70 TNNC1 Ivone Leong Publications for gene: TNNC1 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.69 PRKAG2 Ivone Leong Publications for gene: PRKAG2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.68 PLN Ivone Leong Publications for gene: PLN were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.67 MYL3 Ivone Leong Publications for gene: MYL3 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.66 MYL2 Ivone Leong Publications for gene: MYL2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.65 MYH7 Ivone Leong Publications for gene: MYH7 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.64 MYBPC3 Ivone Leong Publications for gene: MYBPC3 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.63 LAMP2 Ivone Leong Publications for gene: LAMP2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.62 GLA Ivone Leong Publications for gene: GLA were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.61 FHL1 Ivone Leong Publications for gene: FHL1 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.60 CSRP3 Ivone Leong Publications for gene: CSRP3 were set to 27532257; 28369730
Catecholaminergic polymorphic VT v1.20 RYR2 Ivone Leong Publications for gene: RYR2 were set to 27761157; 19121813
Catecholaminergic polymorphic VT v1.19 CASQ2 Ivone Leong Publications for gene: CASQ2 were set to 27761157; 19121813
Catecholaminergic polymorphic VT v1.18 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia to Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia
Long QT syndrome v1.38 SCN5A Ivone Leong Publications for gene: SCN5A were set to 19716085
Long QT syndrome v1.37 KCNQ1 Ivone Leong Publications for gene: KCNQ1 were set to 19716085
Long QT syndrome v1.36 KCNJ2 Ivone Leong Publications for gene: KCNJ2 were set to 19716085
Long QT syndrome v1.35 KCNH2 Ivone Leong Publications for gene: KCNH2 were set to 19716085; 31358886
Long QT syndrome v1.34 KCNE2 Ivone Leong Phenotypes for gene: KCNE2 were changed from Long QT syndrome-6 (613693); Long QT syndrome-6 ; Atrial fibrillation, familial, 4 (611493) to Long QT syndrome 6 (613693); Atrial fibrillation, familial, 4 (611493)
Long QT syndrome v1.33 KCNE2 Ivone Leong Publications for gene: KCNE2 were set to 19716085
Long QT syndrome v1.32 KCNE1 Ivone Leong Phenotypes for gene: KCNE1 were changed from Long QT syndrome-5 (613695); Long QT syndrome-5 ; Jervell and Lange-Nielsen syndrome 2 (612347) to Long QT syndrome 5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347)
Long QT syndrome v1.31 CACNA1C Ivone Leong Publications for gene: CACNA1C were set to 18250309
Fetal anomalies v0.341 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Fetal anomalies. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to PMID: 31136762
Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398)
Sources: Research
Hydrocephalus v1.35 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Hydrocephalus. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to PMID: 31136762
Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398).
Sources: Research
Cerebellar hypoplasia v1.36 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Cerebellar hypoplasia. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31136762
Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398)
Sources: Research
Pain syndromes v1.6 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Pain syndromes. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to 31132363
Phenotypes for gene: NMNAT2 were set to polyneuropathy; erythromelalgia
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Strong evidence of a key role in axon survival from mouse studies (PMID 20126265 and other studies).
Sources: Research
Hypertrophic cardiomyopathy v1.59 ACTC1 Ivone Leong Publications for gene: ACTC1 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.58 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457
Thoracic aortic aneurysm or dissection (GMS) v0.24 CBS Ivone Leong Phenotypes for gene: CBS were changed from Marfan syndrome to Marfan syndrome; Homocystinuria, B6-responsive and nonresponsive types, 236200
Parkinson Disease and Complex Parkinsonism v1.66 GBA Alison Callaway changed review comment from: Following a return of a GBA variant in the context of Parkinson disease by 100K, we feel that we need to feedback that this has posed issues after extensive MDT discussion:
Whilst we think the variant identified is pathogenic in the context of Gaucher's disease, and acknowledge that it could also be a risk factor for PD, we cannot further interpret it (ACMG guidelines are not suitable for risk alleles) so don't feel it's particularly clinically useful in the context of PD. However, we feel we have a responsibility to report in the context of Gaucher's disease carrier status for the benefit of other family members. We are concerned that when other family members request testing for the familial variant, which we would only interpret in the context of Gaucher's disease, they may mis-interpret this as a 'predictive' PD test (the index case was referred from neurology rather than clinical genetics) or worry about the associations of PD (but the majority of GD patients and heterozygote carriers do not develop PD PMID: 29385658).
Do the possible therapeutic benefits suggested for a small number of subclinical GD cases outweigh these issues?; to: Following a return of a GBA variant in the context of Parkinson disease by 100K, we feel that we need to feedback that this has posed issues after extensive MDT discussion:
Whilst we think the variant identified is pathogenic in the context of Gaucher's disease, and acknowledge that it could also be a risk factor for PD, we cannot further interpret it (ACMG guidelines are not suitable for risk alleles) so don't feel it's particularly clinically useful in the context of PD. However, we feel we have a responsibility to report in the context of Gaucher's disease carrier status for the benefit of other family members. We are concerned that when other family members request testing for the familial variant, which we would only interpret in the context of Gaucher's disease, they may mis-interpret this as a 'predictive' PD test (the index case was referred from neurology rather than clinical genetics) or worry about the associations of PD (but the majority of GD patients and heterozygote carriers do not develop PD PMID: 29385658).
Do the possible therapeutic benefits suggested for a small number of subclinical GD cases who also have PD outweigh these issues?
Parkinson Disease and Complex Parkinsonism v1.66 GBA Alison Callaway changed review comment from: Following a return of a GBA variant in the context of Parkinson disease by 100K, we feel that we need to feedback that this has posed issues after extensive MDT discussion:
Whilst we think the variant identified is pathogenic in the context of Gaucher's disease, and acknowledge that it could also be a risk factor for PD, we cannot further interpret it (ACMG guidelines are not suitable for risk alleles) so don't feel it's particularly clinically useful in the context of PD. However, we feel we have a responsibility to report in the context of Gaucher's disease carrier status for the benefit of other family members. We are concerned that when other family members request testing for the familial variant, which we would only interpret in the context of Gaucher's disease, they may mis-interpret this as a 'predictive' PD test (the index case was referred from neurology rather than clinical genetics) or worry about the associations of PD (but the majority of GD patients and heterozygote carriers do not develop PD PMID: 29385658).
Do the possible therapeutic benefits suggested for a small number of subclinical PD cases outweigh these issues?; to: Following a return of a GBA variant in the context of Parkinson disease by 100K, we feel that we need to feedback that this has posed issues after extensive MDT discussion:
Whilst we think the variant identified is pathogenic in the context of Gaucher's disease, and acknowledge that it could also be a risk factor for PD, we cannot further interpret it (ACMG guidelines are not suitable for risk alleles) so don't feel it's particularly clinically useful in the context of PD. However, we feel we have a responsibility to report in the context of Gaucher's disease carrier status for the benefit of other family members. We are concerned that when other family members request testing for the familial variant, which we would only interpret in the context of Gaucher's disease, they may mis-interpret this as a 'predictive' PD test (the index case was referred from neurology rather than clinical genetics) or worry about the associations of PD (but the majority of GD patients and heterozygote carriers do not develop PD PMID: 29385658).
Do the possible therapeutic benefits suggested for a small number of subclinical GD cases outweigh these issues?
Parkinson Disease and Complex Parkinsonism v1.66 GBA Alison Callaway reviewed gene: GBA: Rating: RED; Mode of pathogenicity: None; Publications: 29385658; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.23 SLC2A10 Ivone Leong Publications for gene: SLC2A10 were set to 22001912; 16550171
Thoracic aortic aneurysm or dissection (GMS) v0.22 CBS Ivone Leong Publications for gene: CBS were set to
Thoracic aortic aneurysm or dissection (GMS) v0.21 SLC2A10 Ivone Leong Publications for gene: SLC2A10 were set to
Unexplained young onset end-stage renal disease v0.38 SLC7A9 Eleanor Williams Classified gene: SLC7A9 as Green List (high evidence)