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Neurodegenerative disorders - adult onset v2.0 Louise Daugherty promoted panel to version 2.0
Neurodegenerative disorders - adult onset v1.118 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Neurodegenerative disorders - adult onset v1.117 TAF1 Louise Daugherty changed review comment from: Comment on list classification: Prior to GLH sign off for this panel, TAF1 was discussed further by the specialist test group. It was raised by WWMGLH that the gene should be downgraded from Green to Red as they were not sure if the pipeline could detect the alu-like insertion variant - and no other variants reported in HGMDPro in association with Dystonia-Parkinsonism. However, further correspondence from LNGLH Huw Morris suggested Amber rating - as per movement disorders on PanelApp. Noting that the genetic aetiology of this disorder is complex and not fully understood; to: Comment on list classification: Prior to GLH sign off for this panel, TAF1 was discussed further by the specialist test group. It was raised by WWMGLH that the gene should be downgraded from Green to Red as they were not sure if the pipeline could detect the alu-like insertion variant - and no other variants reported in HGMDPro in association with Dystonia-Parkinsonism. However, further correspondence from LNGLH Huw Morris suggested an Amber rating - as per movement disorders on PanelApp. Noting that the genetic aetiology of this disorder is complex and not fully understood.
Neurodegenerative disorders - adult onset v1.117 TAF1 Louise Daugherty Classified gene: TAF1 as Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v1.117 TAF1 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, TAF1 was discussed further by the specialist test group. It was raised by WWMGLH that the gene should be downgraded from Green to Red as they were not sure if the pipeline could detect the alu-like insertion variant - and no other variants reported in HGMDPro in association with Dystonia-Parkinsonism. However, further correspondence from LNGLH Huw Morris suggested Amber rating - as per movement disorders on PanelApp. Noting that the genetic aetiology of this disorder is complex and not fully understood
Neurodegenerative disorders - adult onset v1.117 TAF1 Louise Daugherty Gene: taf1 has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders - adult onset v1.116 TAF1 Louise Daugherty Tag sva was removed from gene: TAF1.
Neurodegenerative disorders - adult onset v1.116 MARS2 Louise Daugherty Classified gene: MARS2 as Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v1.116 MARS2 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, MARS2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to upgrade this gene to Amber as the the evidence of a primary phenotype associated with this indication (dementia/ALS/Parkinsonism), was not strong enough to rate MARS2 Green. The difficulty of detecting the rearrangements by WGS was also raised so agreed to make Amber
Neurodegenerative disorders - adult onset v1.116 MARS2 Louise Daugherty Gene: mars2 has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders - adult onset v1.115 ITM2B Louise Daugherty commented on gene: ITM2B: Prior to GLH sign off for this panel, ITM2B was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to keep this gene Green.

It was highlighted that two fs variants and one missense rated red on HGMDpro - missense likely pathogenic using in silico tools only. Second amber rated missense in association with dementia. Only 2 cases with segregation - so it was suggested the gene should be Amber not Green. However, further feedback confirmed the Green rating as it was noted that this is rare, but there are a couple of families with a stop-loss mutation in this gene reported in one of the labs, so should remain green.
Neurodegenerative disorders - adult onset v1.115 DAB1 Louise Daugherty Classified gene: DAB1 as Red List (low evidence)
Neurodegenerative disorders - adult onset v1.115 DAB1 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - Red
Neurodegenerative disorders - adult onset v1.115 DAB1 Louise Daugherty Gene: dab1 has been classified as Red List (Low Evidence).
Neurodegenerative disorders - adult onset v1.114 DAB1 Louise Daugherty Deleted their comment
Neurodegenerative disorders - adult onset v1.114 DAB1 Louise Daugherty changed review comment from: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - Red; to: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - Red
Neurodegenerative disorders - adult onset v1.114 DAB1 Louise Daugherty commented on gene: DAB1: Prior to GLH sign off for this panel, DAB1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. . Several cases - ATTTC 31-75n embedded within an ATTTT repeat. Unlikely to be picked up by WGS - Red
Neurodegenerative disorders - adult onset v1.114 CLP1 Louise Daugherty Classified gene: CLP1 as Red List (low evidence)
Neurodegenerative disorders - adult onset v1.114 CLP1 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, CLP1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. Pontocerebellar hypoplasia type 10 - childhood onset so red.
Neurodegenerative disorders - adult onset v1.114 CLP1 Louise Daugherty Gene: clp1 has been classified as Red List (Low Evidence).
Neurodegenerative disorders - adult onset v1.113 ATP8A2 Louise Daugherty Classified gene: ATP8A2 as Red List (low evidence)
Neurodegenerative disorders - adult onset v1.113 ATP8A2 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. It was noted that it is assoicated to cerebellar ataxia, MR and dysequilibrium syndrome type 4. Guissart et al 2019 J Neuro PMID: 31612321 - plus review of 26 previously reported cases. All have onset in childhood – so recommended Red
Neurodegenerative disorders - adult onset v1.113 ATP8A2 Louise Daugherty Gene: atp8a2 has been classified as Red List (Low Evidence).
Neurodegenerative disorders - adult onset v1.112 ATP8A2 Louise Daugherty Publications for gene: ATP8A2 were set to 22892528; 27679995; 2845499
Neurodegenerative disorders - adult onset v1.111 ATP8A2 Louise Daugherty changed review comment from: Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red.; to: Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red. ATP8A2 Cerebellar ataxia, MR and dysequilibrium syndrome type 4. Guissart et al 2019 J Neuro PMID: 31612321 - plus review of 26 previously reported cases. All have onset in childhood- red
Neurodegenerative disorders - adult onset v1.111 ATP8A2 Louise Daugherty Classified gene: ATP8A2 as Red List (low evidence)
Neurodegenerative disorders - adult onset v1.111 ATP8A2 Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, ATP8A2 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red.
Neurodegenerative disorders - adult onset v1.111 ATP8A2 Louise Daugherty Gene: atp8a2 has been classified as Red List (Low Evidence).
Neurodegenerative disorders - adult onset v1.110 ARX Louise Daugherty Classified gene: ARX as Red List (low evidence)
Neurodegenerative disorders - adult onset v1.110 ARX Louise Daugherty Added comment: Comment on list classification: Prior to GLH sign off for this panel, ARX was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red.
Neurodegenerative disorders - adult onset v1.110 ARX Louise Daugherty Gene: arx has been classified as Red List (Low Evidence).
Neurodegenerative disorders - adult onset v1.109 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Prior to GLH sign off for this panel, AP5Z1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to keep this gene rated as Amber because there can be Parkinsonism and cognitive impairment, but not Green as not primary phenotype.
Neurodegenerative disorders - adult onset v1.109 Louise Daugherty removed STR:ATXN1_ATTCT from the panel
Neurodegenerative disorders - adult onset v1.108 Louise Daugherty removed STR:ATXN10_CAG from the panel
Neurodegenerative disorders - adult onset v1.107 Louise Daugherty Panel types changed to GMS Rare Disease
Neurodegenerative disorders - adult onset v1.106 ZFYVE26 Louise Daugherty edited their review of gene: ZFYVE26: 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
Neurodegenerative disorders - adult onset v1.106 YY1 Louise Daugherty edited their review of gene: YY1: 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
Neurodegenerative disorders - adult onset v1.106 WWOX Louise Daugherty edited their review of gene: WWOX: 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
Neurodegenerative disorders - adult onset v1.106 WFS1 Louise Daugherty edited their review of gene: WFS1: 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
Neurodegenerative disorders - adult onset v1.106 WDR81 Louise Daugherty edited their review of gene: WDR81: 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
Neurodegenerative disorders - adult onset v1.106 WDR73 Louise Daugherty edited their review of gene: WDR73: 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
Neurodegenerative disorders - adult onset v1.106 WDR45B Louise Daugherty edited their review of gene: WDR45B: 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
Neurodegenerative disorders - adult onset v1.106 WDR45 Louise Daugherty edited their review of gene: WDR45: 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
Neurodegenerative disorders - adult onset v1.106 WASHC5 Louise Daugherty edited their review of gene: WASHC5: 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
Neurodegenerative disorders - adult onset v1.106 VRK1 Louise Daugherty edited their review of gene: VRK1: 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
Neurodegenerative disorders - adult onset v1.106 VPS13D Louise Daugherty edited their review of gene: VPS13D: 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
Neurodegenerative disorders - adult onset v1.106 VPS13C Louise Daugherty commented on gene: VPS13C: 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
Neurodegenerative disorders - adult onset v1.106 VLDLR Louise Daugherty edited their review of gene: VLDLR: 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
Neurodegenerative disorders - adult onset v1.106 VAMP1 Louise Daugherty edited their review of gene: VAMP1: 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
Neurodegenerative disorders - adult onset v1.106 VAC14 Louise Daugherty edited their review of gene: VAC14: 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
Neurodegenerative disorders - adult onset v1.106 TWNK Louise Daugherty edited their review of gene: TWNK: 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
Neurodegenerative disorders - adult onset v1.106 TUBB4A Louise Daugherty commented on gene: TUBB4A: 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
Neurodegenerative disorders - adult onset v1.106 TUBA4A Louise Daugherty commented on gene: TUBA4A: 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
Neurodegenerative disorders - adult onset v1.106 TTPA Louise Daugherty edited their review of gene: TTPA: 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
Neurodegenerative disorders - adult onset v1.106 TTC19 Louise Daugherty edited their review of gene: TTC19: 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
Neurodegenerative disorders - adult onset v1.106 TTBK2 Louise Daugherty edited their review of gene: TTBK2: 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
Neurodegenerative disorders - adult onset v1.106 TSEN54 Louise Daugherty edited their review of gene: TSEN54: 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
Neurodegenerative disorders - adult onset v1.106 TSEN2 Louise Daugherty edited their review of gene: TSEN2: 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
Neurodegenerative disorders - adult onset v1.106 TPP1 Louise Daugherty edited their review of gene: TPP1: 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
Neurodegenerative disorders - adult onset v1.106 TOR1A Louise Daugherty edited their review of gene: TOR1A: 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
Neurodegenerative disorders - adult onset v1.106 THAP1 Louise Daugherty edited their review of gene: THAP1: 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
Neurodegenerative disorders - adult onset v1.106 TH Louise Daugherty edited their review of gene: TH: 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
Neurodegenerative disorders - adult onset v1.106 TGM6 Louise Daugherty edited their review of gene: TGM6: 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
Neurodegenerative disorders - adult onset v1.106 TAF15 Louise Daugherty edited their review of gene: TAF15: 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
Neurodegenerative disorders - adult onset v1.106 TAF1 Louise Daugherty edited their review of gene: TAF1: 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
Neurodegenerative disorders - adult onset v1.106 SYNE1 Louise Daugherty edited their review of gene: SYNE1: 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
Neurodegenerative disorders - adult onset v1.106 STUB1 Louise Daugherty edited their review of gene: STUB1: 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
Neurodegenerative disorders - adult onset v1.106 SS18L1 Louise Daugherty commented on gene: SS18L1: 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
Neurodegenerative disorders - adult onset v1.106 SRD5A3 Louise Daugherty edited their review of gene: SRD5A3: 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
Neurodegenerative disorders - adult onset v1.106 SPTBN2 Louise Daugherty edited their review of gene: SPTBN2: 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
Neurodegenerative disorders - adult onset v1.106 SPR Louise Daugherty edited their review of gene: SPR: 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
Neurodegenerative disorders - adult onset v1.106 SPG7 Louise Daugherty edited their review of gene: SPG7: 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
Neurodegenerative disorders - adult onset v1.106 SPG21 Louise Daugherty edited their review of gene: SPG21: 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
Neurodegenerative disorders - adult onset v1.106 SPART Louise Daugherty edited their review of gene: SPART: 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
Neurodegenerative disorders - adult onset v1.106 SNX14 Louise Daugherty edited their review of gene: SNX14: 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
Neurodegenerative disorders - adult onset v1.106 SNCB Louise Daugherty commented on gene: SNCB: 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
Neurodegenerative disorders - adult onset v1.106 SLC9A6 Louise Daugherty edited their review of gene: SLC9A6: 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
Neurodegenerative disorders - adult onset v1.106 SLC6A5 Louise Daugherty edited their review of gene: SLC6A5: 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
Neurodegenerative disorders - adult onset v1.106 SLC6A3 Louise Daugherty edited their review of gene: SLC6A3: 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
Neurodegenerative disorders - adult onset v1.106 SLC52A3 Louise Daugherty edited their review of gene: SLC52A3: 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
Neurodegenerative disorders - adult onset v1.106 SLC52A2 Louise Daugherty edited their review of gene: SLC52A2: 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
Neurodegenerative disorders - adult onset v1.106 SLC39A14 Louise Daugherty edited their review of gene: SLC39A14: 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
Neurodegenerative disorders - adult onset v1.106 SLC30A10 Louise Daugherty commented on gene: SLC30A10: 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
Neurodegenerative disorders - adult onset v1.106 SLC2A1 Louise Daugherty edited their review of gene: SLC2A1: 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
Neurodegenerative disorders - adult onset v1.106 SLC25A46 Louise Daugherty edited their review of gene: SLC25A46: 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
Neurodegenerative disorders - adult onset v1.106 SLC1A4 Louise Daugherty edited their review of gene: SLC1A4: 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
Neurodegenerative disorders - adult onset v1.106 SLC1A3 Louise Daugherty edited their review of gene: SLC1A3: 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
Neurodegenerative disorders - adult onset v1.106 SLC16A2 Louise Daugherty edited their review of gene: SLC16A2: 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
Neurodegenerative disorders - adult onset v1.106 SIL1 Louise Daugherty edited their review of gene: SIL1: 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
Neurodegenerative disorders - adult onset v1.106 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: 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
Neurodegenerative disorders - adult onset v1.106 SGCE Louise Daugherty edited their review of gene: SGCE: 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
Neurodegenerative disorders - adult onset v1.106 SERAC1 Louise Daugherty edited their review of gene: SERAC1: 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
Neurodegenerative disorders - adult onset v1.106 SEPSECS Louise Daugherty edited their review of gene: SEPSECS: 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
Neurodegenerative disorders - adult onset v1.106 SCN8A Louise Daugherty edited their review of gene: SCN8A: 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
Neurodegenerative disorders - adult onset v1.106 SCN1A Louise Daugherty edited their review of gene: SCN1A: 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
Neurodegenerative disorders - adult onset v1.106 SAR1B Louise Daugherty edited their review of gene: SAR1B: 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
Neurodegenerative disorders - adult onset v1.106 SACS Louise Daugherty edited their review of gene: SACS: 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
Neurodegenerative disorders - adult onset v1.106 RTN2 Louise Daugherty edited their review of gene: RTN2: 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
Neurodegenerative disorders - adult onset v1.106 RNF170 Louise Daugherty edited their review of gene: RNF170: 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
Neurodegenerative disorders - adult onset v1.106 REEP2 Louise Daugherty edited their review of gene: REEP2: 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
Neurodegenerative disorders - adult onset v1.106 REEP1 Louise Daugherty edited their review of gene: REEP1: 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
Neurodegenerative disorders - adult onset v1.106 RARS2 Louise Daugherty edited their review of gene: RARS2: 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
Neurodegenerative disorders - adult onset v1.106 RAB39B Louise Daugherty edited their review of gene: RAB39B: 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
Neurodegenerative disorders - adult onset v1.106 PRRT2 Louise Daugherty edited their review of gene: PRRT2: 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
Neurodegenerative disorders - adult onset v1.106 PRPH Louise Daugherty commented on gene: PRPH: 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
Neurodegenerative disorders - adult onset v1.106 PRKRA Louise Daugherty commented on gene: PRKRA: 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
Neurodegenerative disorders - adult onset v1.106 PRKCG Louise Daugherty edited their review of gene: PRKCG: 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
Neurodegenerative disorders - adult onset v1.106 POLR3A Louise Daugherty edited their review of gene: POLR3A: 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
Neurodegenerative disorders - adult onset v1.106 POLG Louise Daugherty edited their review of gene: POLG: 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
Neurodegenerative disorders - adult onset v1.106 PNPLA6 Louise Daugherty edited their review of gene: PNPLA6: 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
Neurodegenerative disorders - adult onset v1.106 PNKP Louise Daugherty edited their review of gene: PNKP: 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
Neurodegenerative disorders - adult onset v1.106 PNKD Louise Daugherty edited their review of gene: PNKD: 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
Neurodegenerative disorders - adult onset v1.106 PMPCA Louise Daugherty edited their review of gene: PMPCA: 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
Neurodegenerative disorders - adult onset v1.106 PLP1 Louise Daugherty edited their review of gene: PLP1: 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
Neurodegenerative disorders - adult onset v1.106 PEX16 Louise Daugherty edited their review of gene: PEX16: 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
Neurodegenerative disorders - adult onset v1.106 PDYN Louise Daugherty edited their review of gene: PDYN: 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
Neurodegenerative disorders - adult onset v1.106 PAX6 Louise Daugherty edited their review of gene: PAX6: 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
Neurodegenerative disorders - adult onset v1.106 OPHN1 Louise Daugherty edited their review of gene: OPHN1: 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
Neurodegenerative disorders - adult onset v1.106 OPA3 Louise Daugherty edited their review of gene: OPA3: 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
Neurodegenerative disorders - adult onset v1.106 NT5C2 Louise Daugherty edited their review of gene: NT5C2: 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
Neurodegenerative disorders - adult onset v1.106 NR4A2 Louise Daugherty commented on gene: NR4A2: 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
Neurodegenerative disorders - adult onset v1.106 NOTCH3 Louise Daugherty edited their review of gene: NOTCH3: 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
Neurodegenerative disorders - adult onset v1.106 NKX6-2 Louise Daugherty edited their review of gene: NKX6-2: 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
Neurodegenerative disorders - adult onset v1.106 NIPA1 Louise Daugherty edited their review of gene: NIPA1: 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
Neurodegenerative disorders - adult onset v1.106 NEK1 Louise Daugherty commented on gene: NEK1: 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
Neurodegenerative disorders - adult onset v1.106 NEFH Louise Daugherty edited their review of gene: NEFH: 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
Neurodegenerative disorders - adult onset v1.106 MTTP Louise Daugherty edited their review of gene: MTTP: 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
Neurodegenerative disorders - adult onset v1.106 MT-ATP6 Louise Daugherty edited their review of gene: MT-ATP6: 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
Neurodegenerative disorders - adult onset v1.106 MRE11 Louise Daugherty edited their review of gene: MRE11: 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
Neurodegenerative disorders - adult onset v1.106 MMACHC Louise Daugherty edited their review of gene: MMACHC: 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
Neurodegenerative disorders - adult onset v1.106 MECR Louise Daugherty edited their review of gene: MECR: 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
Neurodegenerative disorders - adult onset v1.106 MATR3 Louise Daugherty commented on gene: MATR3: 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
Neurodegenerative disorders - adult onset v1.106 MARS2 Louise Daugherty edited their review of gene: MARS2: 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
Neurodegenerative disorders - adult onset v1.106 MAG Louise Daugherty edited their review of gene: MAG: 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
Neurodegenerative disorders - adult onset v1.106 L1CAM Louise Daugherty edited their review of gene: L1CAM: 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
Neurodegenerative disorders - adult onset v1.106 KMT2B Louise Daugherty edited their review of gene: KMT2B: 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
Neurodegenerative disorders - adult onset v1.106 KIF5A Louise Daugherty edited their review of gene: KIF5A: 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
Neurodegenerative disorders - adult onset v1.106 KIF1C Louise Daugherty edited their review of gene: KIF1C: 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
Neurodegenerative disorders - adult onset v1.106 KIF1A Louise Daugherty edited their review of gene: KIF1A: 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
Neurodegenerative disorders - adult onset v1.106 KIDINS220 Louise Daugherty edited their review of gene: KIDINS220: 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
Neurodegenerative disorders - adult onset v1.106 KIAA1161 Louise Daugherty edited their review of gene: KIAA1161: 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
Neurodegenerative disorders - adult onset v1.106 KDM5C Louise Daugherty edited their review of gene: KDM5C: 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
Neurodegenerative disorders - adult onset v1.106 KCNQ3 Louise Daugherty edited their review of gene: KCNQ3: 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
Neurodegenerative disorders - adult onset v1.106 KCNQ2 Louise Daugherty edited their review of gene: KCNQ2: 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
Neurodegenerative disorders - adult onset v1.106 KCNJ10 Louise Daugherty edited their review of gene: KCNJ10: 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
Neurodegenerative disorders - adult onset v1.106 KCNA1 Louise Daugherty edited their review of gene: KCNA1: 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
Neurodegenerative disorders - adult onset v1.106 ITPR1 Louise Daugherty edited their review of gene: ITPR1: 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
Neurodegenerative disorders - adult onset v1.106 ITM2B Louise Daugherty edited their review of gene: ITM2B: 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
Neurodegenerative disorders - adult onset v1.106 IBA57 Louise Daugherty edited their review of gene: IBA57: 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
Neurodegenerative disorders - adult onset v1.106 HTRA2 Louise Daugherty edited their review of gene: HTRA2: 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
Neurodegenerative disorders - adult onset v1.106 HSPD1 Louise Daugherty edited their review of gene: HSPD1: 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
Neurodegenerative disorders - adult onset v1.106 HPCA Louise Daugherty edited their review of gene: HPCA: 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
Neurodegenerative disorders - adult onset v1.106 HNRNPA2B1 Louise Daugherty commented on gene: HNRNPA2B1: 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
Neurodegenerative disorders - adult onset v1.106 HACE1 Louise Daugherty edited their review of gene: HACE1: 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
Neurodegenerative disorders - adult onset v1.106 GRM1 Louise Daugherty edited their review of gene: GRM1: 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
Neurodegenerative disorders - adult onset v1.106 GRID2 Louise Daugherty edited their review of gene: GRID2: 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
Neurodegenerative disorders - adult onset v1.106 GPAA1 Louise Daugherty edited their review of gene: GPAA1: 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
Neurodegenerative disorders - adult onset v1.106 GOSR2 Louise Daugherty edited their review of gene: GOSR2: 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
Neurodegenerative disorders - adult onset v1.106 GNAO1 Louise Daugherty edited their review of gene: GNAO1: 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
Neurodegenerative disorders - adult onset v1.106 GNAL Louise Daugherty edited their review of gene: GNAL: 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
Neurodegenerative disorders - adult onset v1.106 GLRB Louise Daugherty edited their review of gene: GLRB: 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
Neurodegenerative disorders - adult onset v1.106 GLRA1 Louise Daugherty edited their review of gene: GLRA1: 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
Neurodegenerative disorders - adult onset v1.106 GJC2 Louise Daugherty edited their review of gene: GJC2: 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
Neurodegenerative disorders - adult onset v1.106 GIGYF2 Louise Daugherty commented on gene: GIGYF2: 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
Neurodegenerative disorders - adult onset v1.106 GCH1 Louise Daugherty edited their review of gene: GCH1: 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
Neurodegenerative disorders - adult onset v1.106 GCDH Louise Daugherty commented on gene: GCDH: 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
Neurodegenerative disorders - adult onset v1.106 GBA2 Louise Daugherty edited their review of gene: GBA2: 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
Neurodegenerative disorders - adult onset v1.106 FXN Louise Daugherty edited their review of gene: FXN: 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
Neurodegenerative disorders - adult onset v1.106 FOLR1 Louise Daugherty edited their review of gene: FOLR1: 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
Neurodegenerative disorders - adult onset v1.106 FMR1 Louise Daugherty edited their review of gene: FMR1: 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
Neurodegenerative disorders - adult onset v1.106 FLVCR1 Louise Daugherty edited their review of gene: FLVCR1: 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
Neurodegenerative disorders - adult onset v1.106 FGF14 Louise Daugherty edited their review of gene: FGF14: 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
Neurodegenerative disorders - adult onset v1.106 FARS2 Louise Daugherty edited their review of gene: FARS2: 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
Neurodegenerative disorders - adult onset v1.106 FA2H Louise Daugherty edited their review of gene: FA2H: 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
Neurodegenerative disorders - adult onset v1.106 EXOSC3 Louise Daugherty edited their review of gene: EXOSC3: 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
Neurodegenerative disorders - adult onset v1.106 EWSR1 Louise Daugherty commented on gene: EWSR1: 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
Neurodegenerative disorders - adult onset v1.106 ERLIN2 Louise Daugherty edited their review of gene: ERLIN2: 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
Neurodegenerative disorders - adult onset v1.106 ERLIN1 Louise Daugherty edited their review of gene: ERLIN1: 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
Neurodegenerative disorders - adult onset v1.106 ERBB4 Louise Daugherty commented on gene: ERBB4: 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
Neurodegenerative disorders - adult onset v1.106 EIF4G1 Louise Daugherty commented on gene: EIF4G1: 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
Neurodegenerative disorders - adult onset v1.106 EIF2B5 Louise Daugherty edited their review of gene: EIF2B5: 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
Neurodegenerative disorders - adult onset v1.106 DNAJC19 Louise Daugherty edited their review of gene: DNAJC19: 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
Neurodegenerative disorders - adult onset v1.106 DNAJC13 Louise Daugherty commented on gene: DNAJC13: 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
Neurodegenerative disorders - adult onset v1.106 DMXL2 Louise Daugherty edited their review of gene: DMXL2: 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
Neurodegenerative disorders - adult onset v1.106 DLAT Louise Daugherty edited their review of gene: DLAT: 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
Neurodegenerative disorders - adult onset v1.106 DDHD2 Louise Daugherty edited their review of gene: DDHD2: 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
Neurodegenerative disorders - adult onset v1.106 DDHD1 Louise Daugherty edited their review of gene: DDHD1: 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
Neurodegenerative disorders - adult onset v1.106 DDC Louise Daugherty edited their review of gene: DDC: 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
Neurodegenerative disorders - adult onset v1.106 DCAF17 Louise Daugherty edited their review of gene: DCAF17: 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
Neurodegenerative disorders - adult onset v1.106 DARS Louise Daugherty edited their review of gene: DARS: 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
Neurodegenerative disorders - adult onset v1.106 DAO Louise Daugherty commented on gene: DAO: 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
Neurodegenerative disorders - adult onset v1.106 DAB1 Louise Daugherty commented on gene: DAB1: 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset 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)
Neurodegenerative disorders - adult onset v1.104 Louise Daugherty List of related panels changed from to R58
Neurodegenerative disorders - adult onset v1.103 ISCA-37468-Loss Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source London North GLH was removed from Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.102 MARS Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
Neurodegenerative disorders - adult onset v1.102 MARS Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Neurodegenerative disorders - adult onset v1.102 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Neurodegenerative disorders - adult onset v1.102 AARS Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Neurodegenerative disorders - adult onset v1.102 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Neurodegenerative disorders - adult onset v1.102 DARS Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Neurodegenerative disorders - adult onset v1.102 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Autosomal Recessive Primary Familial Brain Calcification to Autosomal Recessive Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317
Neurodegenerative disorders - adult onset v1.101 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TAF1 Louise Daugherty commented on gene: TAF1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 NEFH Louise Daugherty commented on gene: NEFH: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MVK Louise Daugherty commented on gene: MVK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MAG Louise Daugherty commented on gene: MAG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KCNK18 Louise Daugherty commented on gene: KCNK18: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GNAL Louise Daugherty commented on gene: GNAL: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DMXL2 Louise Daugherty commented on gene: DMXL2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DARS Louise Daugherty commented on gene: DARS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 COG5 Louise Daugherty commented on gene: COG5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CIZ1 Louise Daugherty commented on gene: CIZ1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CHCHD2 Louise Daugherty commented on gene: CHCHD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CDK16 Louise Daugherty commented on gene: CDK16: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 HACE1 Louise Daugherty commented on gene: HACE1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ABCD1 Louise Daugherty commented on gene: ABCD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 YY1 Louise Daugherty commented on gene: YY1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 WWOX Louise Daugherty commented on gene: WWOX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 WFS1 Louise Daugherty commented on gene: WFS1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 WDR81 Louise Daugherty commented on gene: WDR81: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 WDR73 Louise Daugherty commented on gene: WDR73: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 WDR45B Louise Daugherty commented on gene: WDR45B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 WDR45 Louise Daugherty commented on gene: WDR45: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 WASHC5 Louise Daugherty commented on gene: WASHC5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 VRK1 Louise Daugherty commented on gene: VRK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 VPS35 Louise Daugherty commented on gene: VPS35: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 VPS13D Louise Daugherty commented on gene: VPS13D: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 VPS13A Louise Daugherty commented on gene: VPS13A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 VLDLR Louise Daugherty commented on gene: VLDLR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 VCP Louise Daugherty commented on gene: VCP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 VAPB Louise Daugherty commented on gene: VAPB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 VAC14 Louise Daugherty commented on gene: VAC14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 UBQLN2 Louise Daugherty commented on gene: UBQLN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TYROBP Louise Daugherty commented on gene: TYROBP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TWNK Louise Daugherty commented on gene: TWNK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TUBB4A Louise Daugherty commented on gene: TUBB4A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TTPA Louise Daugherty commented on gene: TTPA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TTC19 Louise Daugherty commented on gene: TTC19: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TTBK2 Louise Daugherty commented on gene: TTBK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TSEN54 Louise Daugherty commented on gene: TSEN54: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TSEN2 Louise Daugherty commented on gene: TSEN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TPP1 Louise Daugherty commented on gene: TPP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TOR1A Louise Daugherty commented on gene: TOR1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TMEM240 Louise Daugherty commented on gene: TMEM240: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 THAP1 Louise Daugherty commented on gene: THAP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TH Louise Daugherty commented on gene: TH: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TGM6 Louise Daugherty commented on gene: TGM6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TBK1 Louise Daugherty commented on gene: TBK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 TARDBP Louise Daugherty commented on gene: TARDBP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SYNJ1 Louise Daugherty commented on gene: SYNJ1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SYNE1 Louise Daugherty commented on gene: SYNE1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 STUB1 Louise Daugherty commented on gene: STUB1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SRD5A3 Louise Daugherty commented on gene: SRD5A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SPTBN2 Louise Daugherty commented on gene: SPTBN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SPR Louise Daugherty commented on gene: SPR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SPG7 Louise Daugherty commented on gene: SPG7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SPG21 Louise Daugherty commented on gene: SPG21: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SPG11 Louise Daugherty commented on gene: SPG11: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SPAST Louise Daugherty commented on gene: SPAST: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SPART Louise Daugherty commented on gene: SPART: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SOD1 Louise Daugherty commented on gene: SOD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SNX14 Louise Daugherty commented on gene: SNX14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SNCA Louise Daugherty commented on gene: SNCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC9A6 Louise Daugherty commented on gene: SLC9A6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC6A5 Louise Daugherty commented on gene: SLC6A5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC6A3 Louise Daugherty commented on gene: SLC6A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC52A3 Louise Daugherty commented on gene: SLC52A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC52A2 Louise Daugherty commented on gene: SLC52A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC39A14 Louise Daugherty commented on gene: SLC39A14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC30A10 Louise Daugherty commented on gene: SLC30A10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC1A3 Louise Daugherty commented on gene: SLC1A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SIL1 Louise Daugherty commented on gene: SIL1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SGCE Louise Daugherty commented on gene: SGCE: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SETX Louise Daugherty commented on gene: SETX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SERAC1 Louise Daugherty commented on gene: SERAC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SEPSECS Louise Daugherty commented on gene: SEPSECS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SCN8A Louise Daugherty commented on gene: SCN8A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SCN1A Louise Daugherty commented on gene: SCN1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SAR1B Louise Daugherty commented on gene: SAR1B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 SACS Louise Daugherty commented on gene: SACS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 RTN2 Louise Daugherty commented on gene: RTN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 RNF216 Louise Daugherty commented on gene: RNF216: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 RNF170 Louise Daugherty commented on gene: RNF170: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 REEP1 Louise Daugherty commented on gene: REEP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 RARS2 Louise Daugherty commented on gene: RARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 RAB39B Louise Daugherty commented on gene: RAB39B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PSEN2 Louise Daugherty commented on gene: PSEN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PRRT2 Louise Daugherty commented on gene: PRRT2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PRNP Louise Daugherty commented on gene: PRNP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PRKRA Louise Daugherty commented on gene: PRKRA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PRKN Louise Daugherty commented on gene: PRKN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PRKCG Louise Daugherty commented on gene: PRKCG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 POLR3A Louise Daugherty commented on gene: POLR3A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 POLG Louise Daugherty commented on gene: POLG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PNKP Louise Daugherty commented on gene: PNKP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PNKD Louise Daugherty commented on gene: PNKD: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PMPCA Louise Daugherty commented on gene: PMPCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PLP1 Louise Daugherty commented on gene: PLP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PLA2G6 Louise Daugherty commented on gene: PLA2G6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PINK1 Louise Daugherty commented on gene: PINK1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PFN1 Louise Daugherty commented on gene: PFN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PEX16 Louise Daugherty commented on gene: PEX16: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PDYN Louise Daugherty commented on gene: PDYN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PAX6 Louise Daugherty commented on gene: PAX6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PARK7 Louise Daugherty commented on gene: PARK7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 PANK2 Louise Daugherty commented on gene: PANK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 OPTN Louise Daugherty commented on gene: OPTN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 OPHN1 Louise Daugherty commented on gene: OPHN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 OPA3 Louise Daugherty commented on gene: OPA3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 NPC2 Louise Daugherty commented on gene: NPC2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 NPC1 Louise Daugherty commented on gene: NPC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 NOTCH3 Louise Daugherty commented on gene: NOTCH3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 NIPA1 Louise Daugherty commented on gene: NIPA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 NHLRC1 Louise Daugherty commented on gene: NHLRC1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MTTP Louise Daugherty commented on gene: MTTP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MT-ATP6 Louise Daugherty commented on gene: MT-ATP6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MRE11 Louise Daugherty commented on gene: MRE11: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MMACHC Louise Daugherty commented on gene: MMACHC: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MECR Louise Daugherty commented on gene: MECR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 MAPT Louise Daugherty commented on gene: MAPT: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 LYST Louise Daugherty commented on gene: LYST: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 LRRK2 Louise Daugherty commented on gene: LRRK2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 L1CAM Louise Daugherty commented on gene: L1CAM: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KMT2B Louise Daugherty commented on gene: KMT2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KIF5A Louise Daugherty commented on gene: KIF5A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KIF1A Louise Daugherty commented on gene: KIF1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KCNQ3 Louise Daugherty commented on gene: KCNQ3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KCNQ2 Louise Daugherty commented on gene: KCNQ2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KCNJ10 Louise Daugherty commented on gene: KCNJ10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KCND3 Louise Daugherty commented on gene: KCND3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KCNC3 Louise Daugherty commented on gene: KCNC3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 KCNA1 Louise Daugherty commented on gene: KCNA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ITPR1 Louise Daugherty commented on gene: ITPR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ITM2B Louise Daugherty commented on gene: ITM2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 HTRA2 Louise Daugherty commented on gene: HTRA2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 HSPD1 Louise Daugherty commented on gene: HSPD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 HPCA Louise Daugherty commented on gene: HPCA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 HNRNPA1 Louise Daugherty commented on gene: HNRNPA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 HEXB Louise Daugherty commented on gene: HEXB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 HEXA Louise Daugherty commented on gene: HEXA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GRN Louise Daugherty commented on gene: GRN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GRM1 Louise Daugherty commented on gene: GRM1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GRID2 Louise Daugherty commented on gene: GRID2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GPAA1 Louise Daugherty commented on gene: GPAA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GOSR2 Louise Daugherty commented on gene: GOSR2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GNAO1 Louise Daugherty commented on gene: GNAO1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GLRB Louise Daugherty commented on gene: GLRB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GLRA1 Louise Daugherty commented on gene: GLRA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GFAP Louise Daugherty commented on gene: GFAP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GBA2 Louise Daugherty commented on gene: GBA2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 GBA Louise Daugherty commented on gene: GBA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FXN Louise Daugherty commented on gene: FXN: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FUS Louise Daugherty commented on gene: FUS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FTL Louise Daugherty commented on gene: FTL: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FOLR1 Louise Daugherty commented on gene: FOLR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FMR1 Louise Daugherty commented on gene: FMR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FLVCR1 Louise Daugherty commented on gene: FLVCR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FIG4 Louise Daugherty commented on gene: FIG4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FGF14 Louise Daugherty commented on gene: FGF14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FBXO7 Louise Daugherty commented on gene: FBXO7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FARS2 Louise Daugherty commented on gene: FARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 FA2H Louise Daugherty commented on gene: FA2H: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 EXOSC3 Louise Daugherty commented on gene: EXOSC3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 EPM2A Louise Daugherty commented on gene: EPM2A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ELOVL4 Louise Daugherty commented on gene: ELOVL4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 EIF2B5 Louise Daugherty commented on gene: EIF2B5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 EIF2B4 Louise Daugherty commented on gene: EIF2B4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 EIF2B3 Louise Daugherty commented on gene: EIF2B3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 EIF2B2 Louise Daugherty commented on gene: EIF2B2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 EIF2B1 Louise Daugherty commented on gene: EIF2B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DNMT1 Louise Daugherty commented on gene: DNMT1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DNAJC6 Louise Daugherty commented on gene: DNAJC6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DNAJC5 Louise Daugherty commented on gene: DNAJC5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DNAJC19 Louise Daugherty commented on gene: DNAJC19: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DDHD2 Louise Daugherty commented on gene: DDHD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DDHD1 Louise Daugherty commented on gene: DDHD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DCTN1 Louise Daugherty commented on gene: DCTN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DCAF17 Louise Daugherty commented on gene: DCAF17: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 DARS2 Louise Daugherty commented on gene: DARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CWF19L1 Louise Daugherty commented on gene: CWF19L1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CSTB Louise Daugherty commented on gene: CSTB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CSF1R Louise Daugherty commented on gene: CSF1R: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CP Louise Daugherty commented on gene: CP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 COX20 Louise Daugherty commented on gene: COX20: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 COQ8A Louise Daugherty commented on gene: COQ8A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 COASY Louise Daugherty commented on gene: COASY: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CLN6 Louise Daugherty commented on gene: CLN6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CLCN2 Louise Daugherty commented on gene: CLCN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CHMP2B Louise Daugherty commented on gene: CHMP2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CHMP1A Louise Daugherty commented on gene: CHMP1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CASK Louise Daugherty commented on gene: CASK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CAPN1 Louise Daugherty commented on gene: CAPN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CAMTA1 Louise Daugherty commented on gene: CAMTA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CACNB4 Louise Daugherty commented on gene: CACNB4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CACNA1G Louise Daugherty commented on gene: CACNA1G: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CACNA1A Louise Daugherty commented on gene: CACNA1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 CA8 Louise Daugherty commented on gene: CA8: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ATP7B Louise Daugherty commented on gene: ATP7B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ATP1A3 Louise Daugherty commented on gene: ATP1A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ATP1A2 Louise Daugherty commented on gene: ATP1A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ATM Louise Daugherty commented on gene: ATM: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ATCAY Louise Daugherty commented on gene: ATCAY: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ARSA Louise Daugherty commented on gene: ARSA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AR Louise Daugherty commented on gene: AR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 APTX Louise Daugherty commented on gene: APTX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 APP Louise Daugherty commented on gene: APP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AP4S1 Louise Daugherty commented on gene: AP4S1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AP4M1 Louise Daugherty commented on gene: AP4M1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AP4E1 Louise Daugherty commented on gene: AP4E1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AP4B1 Louise Daugherty commented on gene: AP4B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AP1S2 Louise Daugherty commented on gene: AP1S2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ANO3 Louise Daugherty commented on gene: ANO3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ANO10 Louise Daugherty commented on gene: ANO10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ANG Louise Daugherty commented on gene: ANG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ALS2 Louise Daugherty commented on gene: ALS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AIMP1 Louise Daugherty commented on gene: AIMP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ADCY5 Louise Daugherty commented on gene: ADCY5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ADAR Louise Daugherty commented on gene: ADAR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ABHD12 Louise Daugherty commented on gene: ABHD12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 ABCB7 Louise Daugherty commented on gene: ABCB7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.101 AAAS Louise Daugherty commented on gene: AAAS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders - adult onset v1.100 VAMP1 Louise Daugherty Source Wessex and West Midlands GLH was added to VAMP1.
Neurodegenerative disorders - adult onset v1.100 TAF1 Louise Daugherty Source Wessex and West Midlands GLH was added to TAF1.
Neurodegenerative disorders - adult onset v1.100 REEP2 Louise Daugherty Source Wessex and West Midlands GLH was added to REEP2.
Neurodegenerative disorders - adult onset v1.100 NEFH Louise Daugherty Source Wessex and West Midlands GLH was added to NEFH.
Neurodegenerative disorders - adult onset v1.100 MVK Louise Daugherty Source Wessex and West Midlands GLH was added to MVK.
Neurodegenerative disorders - adult onset v1.100 MAG Louise Daugherty Source Wessex and West Midlands GLH was added to MAG.
Neurodegenerative disorders - adult onset v1.100 KDM5C Louise Daugherty Source Wessex and West Midlands GLH was added to KDM5C.
Neurodegenerative disorders - adult onset v1.100 KCNK18 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNK18.
Neurodegenerative disorders - adult onset v1.100 IBA57 Louise Daugherty Source Wessex and West Midlands GLH was added to IBA57.
Neurodegenerative disorders - adult onset v1.100 GNAL Louise Daugherty Source Wessex and West Midlands GLH was added to GNAL.
Neurodegenerative disorders - adult onset v1.100 GCH1 Louise Daugherty Source Wessex and West Midlands GLH was added to GCH1.
Neurodegenerative disorders - adult onset v1.100 DMXL2 Louise Daugherty Source Wessex and West Midlands GLH was added to DMXL2.
Neurodegenerative disorders - adult onset v1.100 DARS Louise Daugherty Source Wessex and West Midlands GLH was added to DARS.
Neurodegenerative disorders - adult onset v1.100 COG5 Louise Daugherty Source Wessex and West Midlands GLH was added to COG5.
Neurodegenerative disorders - adult onset v1.100 CIZ1 Louise Daugherty Source Wessex and West Midlands GLH was added to CIZ1.
Neurodegenerative disorders - adult onset v1.100 CHCHD2 Louise Daugherty Source Wessex and West Midlands GLH was added to CHCHD2.
Neurodegenerative disorders - adult onset v1.100 CDK16 Louise Daugherty Source Wessex and West Midlands GLH was added to CDK16.
Neurodegenerative disorders - adult onset v1.100 HACE1 Louise Daugherty Source Wessex and West Midlands GLH was added to HACE1.
Neurodegenerative disorders - adult onset v1.100 ERLIN1 Louise Daugherty Source Wessex and West Midlands GLH was added to ERLIN1.
Neurodegenerative disorders - adult onset v1.100 ARG1 Louise Daugherty Source Wessex and West Midlands GLH was added to ARG1.
Neurodegenerative disorders - adult onset v1.100 ABCD1 Louise Daugherty Source Wessex and West Midlands GLH was added to ABCD1.
Neurodegenerative disorders - adult onset v1.100 ZFYVE26 Louise Daugherty Source Wessex and West Midlands GLH was added to ZFYVE26.
Neurodegenerative disorders - adult onset v1.100 YY1 Louise Daugherty Source Wessex and West Midlands GLH was added to YY1.
Neurodegenerative disorders - adult onset v1.100 WWOX Louise Daugherty Source Wessex and West Midlands GLH was added to WWOX.
Neurodegenerative disorders - adult onset v1.100 WFS1 Louise Daugherty Source Wessex and West Midlands GLH was added to WFS1.
Neurodegenerative disorders - adult onset v1.100 WDR81 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR81.
Neurodegenerative disorders - adult onset v1.100 WDR73 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR73.
Neurodegenerative disorders - adult onset v1.100 WDR45B Louise Daugherty Source Wessex and West Midlands GLH was added to WDR45B.
Neurodegenerative disorders - adult onset v1.100 WDR45 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR45.
Neurodegenerative disorders - adult onset v1.100 WASHC5 Louise Daugherty Source Wessex and West Midlands GLH was added to WASHC5.
Neurodegenerative disorders - adult onset v1.100 VRK1 Louise Daugherty Source Wessex and West Midlands GLH was added to VRK1.
Neurodegenerative disorders - adult onset v1.100 VPS35 Louise Daugherty Source Wessex and West Midlands GLH was added to VPS35.
Neurodegenerative disorders - adult onset v1.100 VPS13D Louise Daugherty Source Wessex and West Midlands GLH was added to VPS13D.
Neurodegenerative disorders - adult onset v1.100 VPS13A Louise Daugherty Source Wessex and West Midlands GLH was added to VPS13A.
Neurodegenerative disorders - adult onset v1.100 VLDLR Louise Daugherty Source Wessex and West Midlands GLH was added to VLDLR.
Neurodegenerative disorders - adult onset v1.100 VCP Louise Daugherty Source Wessex and West Midlands GLH was added to VCP.
Neurodegenerative disorders - adult onset v1.100 VAPB Louise Daugherty Source Wessex and West Midlands GLH was added to VAPB.
Neurodegenerative disorders - adult onset v1.100 VAC14 Louise Daugherty Source Wessex and West Midlands GLH was added to VAC14.
Neurodegenerative disorders - adult onset v1.100 UBQLN2 Louise Daugherty Source Wessex and West Midlands GLH was added to UBQLN2.
Neurodegenerative disorders - adult onset v1.100 TYROBP Louise Daugherty Source Wessex and West Midlands GLH was added to TYROBP.
Neurodegenerative disorders - adult onset v1.100 TWNK Louise Daugherty Source Wessex and West Midlands GLH was added to TWNK.
Neurodegenerative disorders - adult onset v1.100 TUBB4A Louise Daugherty Source Wessex and West Midlands GLH was added to TUBB4A.
Neurodegenerative disorders - adult onset v1.100 TTPA Louise Daugherty Source Wessex and West Midlands GLH was added to TTPA.
Neurodegenerative disorders - adult onset v1.100 TTC19 Louise Daugherty Source Wessex and West Midlands GLH was added to TTC19.
Neurodegenerative disorders - adult onset v1.100 TTBK2 Louise Daugherty Source Wessex and West Midlands GLH was added to TTBK2.
Neurodegenerative disorders - adult onset v1.100 TSEN54 Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN54.
Neurodegenerative disorders - adult onset v1.100 TSEN2 Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN2.
Neurodegenerative disorders - adult onset v1.100 TPP1 Louise Daugherty Source Wessex and West Midlands GLH was added to TPP1.
Neurodegenerative disorders - adult onset v1.100 TOR1A Louise Daugherty Source Wessex and West Midlands GLH was added to TOR1A.
Neurodegenerative disorders - adult onset v1.100 TMEM240 Louise Daugherty Source Wessex and West Midlands GLH was added to TMEM240.
Neurodegenerative disorders - adult onset v1.100 THAP1 Louise Daugherty Source Wessex and West Midlands GLH was added to THAP1.
Neurodegenerative disorders - adult onset v1.100 TH Louise Daugherty Source Wessex and West Midlands GLH was added to TH.
Neurodegenerative disorders - adult onset v1.100 TGM6 Louise Daugherty Source Wessex and West Midlands GLH was added to TGM6.
Neurodegenerative disorders - adult onset v1.100 TBK1 Louise Daugherty Source Wessex and West Midlands GLH was added to TBK1.
Neurodegenerative disorders - adult onset v1.100 TARDBP Louise Daugherty Source Wessex and West Midlands GLH was added to TARDBP.
Neurodegenerative disorders - adult onset v1.100 SYNJ1 Louise Daugherty Source Wessex and West Midlands GLH was added to SYNJ1.
Neurodegenerative disorders - adult onset v1.100 SYNE1 Louise Daugherty Source Wessex and West Midlands GLH was added to SYNE1.
Neurodegenerative disorders - adult onset v1.100 STUB1 Louise Daugherty Source Wessex and West Midlands GLH was added to STUB1.
Neurodegenerative disorders - adult onset v1.100 SRD5A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SRD5A3.
Neurodegenerative disorders - adult onset v1.100 SPTBN2 Louise Daugherty Source Wessex and West Midlands GLH was added to SPTBN2.
Neurodegenerative disorders - adult onset v1.100 SPR Louise Daugherty Source Wessex and West Midlands GLH was added to SPR.
Neurodegenerative disorders - adult onset v1.100 SPG7 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG7.
Neurodegenerative disorders - adult onset v1.100 SPG21 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG21.
Neurodegenerative disorders - adult onset v1.100 SPG11 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG11.
Neurodegenerative disorders - adult onset v1.100 SPAST Louise Daugherty Source Wessex and West Midlands GLH was added to SPAST.
Neurodegenerative disorders - adult onset v1.100 SPART Louise Daugherty Source Wessex and West Midlands GLH was added to SPART.
Neurodegenerative disorders - adult onset v1.100 SOD1 Louise Daugherty Source Wessex and West Midlands GLH was added to SOD1.
Neurodegenerative disorders - adult onset v1.100 SNX14 Louise Daugherty Source Wessex and West Midlands GLH was added to SNX14.
Neurodegenerative disorders - adult onset v1.100 SNCA Louise Daugherty Source Wessex and West Midlands GLH was added to SNCA.
Neurodegenerative disorders - adult onset v1.100 SLC9A6 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC9A6.
Neurodegenerative disorders - adult onset v1.100 SLC6A5 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC6A5.
Neurodegenerative disorders - adult onset v1.100 SLC6A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC6A3.
Neurodegenerative disorders - adult onset v1.100 SLC52A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC52A3.
Neurodegenerative disorders - adult onset v1.100 SLC52A2 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC52A2.
Neurodegenerative disorders - adult onset v1.100 SLC39A14 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC39A14.
Neurodegenerative disorders - adult onset v1.100 SLC30A10 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC30A10.
Neurodegenerative disorders - adult onset v1.100 SLC2A1 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC2A1.
Neurodegenerative disorders - adult onset v1.100 SLC25A46 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC25A46.
Neurodegenerative disorders - adult onset v1.100 SLC1A4 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC1A4.
Neurodegenerative disorders - adult onset v1.100 SLC1A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC1A3.
Neurodegenerative disorders - adult onset v1.100 SLC16A2 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC16A2.
Neurodegenerative disorders - adult onset v1.100 SIL1 Louise Daugherty Source Wessex and West Midlands GLH was added to SIL1.
Neurodegenerative disorders - adult onset v1.100 SIGMAR1 Louise Daugherty Source Wessex and West Midlands GLH was added to SIGMAR1.
Neurodegenerative disorders - adult onset v1.100 SGCE Louise Daugherty Source Wessex and West Midlands GLH was added to SGCE.
Neurodegenerative disorders - adult onset v1.100 SETX Louise Daugherty Source Wessex and West Midlands GLH was added to SETX.
Neurodegenerative disorders - adult onset v1.100 SERAC1 Louise Daugherty Source Wessex and West Midlands GLH was added to SERAC1.
Neurodegenerative disorders - adult onset v1.100 SEPSECS Louise Daugherty Source Wessex and West Midlands GLH was added to SEPSECS.
Neurodegenerative disorders - adult onset v1.100 SCN8A Louise Daugherty Source Wessex and West Midlands GLH was added to SCN8A.
Neurodegenerative disorders - adult onset v1.100 SCN1A Louise Daugherty Source Wessex and West Midlands GLH was added to SCN1A.
Neurodegenerative disorders - adult onset v1.100 SAR1B Louise Daugherty Source Wessex and West Midlands GLH was added to SAR1B.
Neurodegenerative disorders - adult onset v1.100 SACS Louise Daugherty Source Wessex and West Midlands GLH was added to SACS.
Neurodegenerative disorders - adult onset v1.100 RTN2 Louise Daugherty Source Wessex and West Midlands GLH was added to RTN2.
Neurodegenerative disorders - adult onset v1.100 RNF216 Louise Daugherty Source Wessex and West Midlands GLH was added to RNF216.
Neurodegenerative disorders - adult onset v1.100 RNF170 Louise Daugherty Source Wessex and West Midlands GLH was added to RNF170.
Neurodegenerative disorders - adult onset v1.100 REEP1 Louise Daugherty Source Wessex and West Midlands GLH was added to REEP1.
Neurodegenerative disorders - adult onset v1.100 RARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to RARS2.
Neurodegenerative disorders - adult onset v1.100 RAB39B Louise Daugherty Source Wessex and West Midlands GLH was added to RAB39B.
Neurodegenerative disorders - adult onset v1.100 PSEN2 Louise Daugherty Source Wessex and West Midlands GLH was added to PSEN2.
Neurodegenerative disorders - adult onset v1.100 PSEN1 Louise Daugherty Source Wessex and West Midlands GLH was added to PSEN1.
Neurodegenerative disorders - adult onset v1.100 PRRT2 Louise Daugherty Source Wessex and West Midlands GLH was added to PRRT2.
Neurodegenerative disorders - adult onset v1.100 PRNP Louise Daugherty Source Wessex and West Midlands GLH was added to PRNP.
Neurodegenerative disorders - adult onset v1.100 PRKRA Louise Daugherty Source Wessex and West Midlands GLH was added to PRKRA.
Neurodegenerative disorders - adult onset v1.100 PRKN Louise Daugherty Source Wessex and West Midlands GLH was added to PRKN.
Neurodegenerative disorders - adult onset v1.100 PRKCG Louise Daugherty Source Wessex and West Midlands GLH was added to PRKCG.
Neurodegenerative disorders - adult onset v1.100 POLR3A Louise Daugherty Source Wessex and West Midlands GLH was added to POLR3A.
Neurodegenerative disorders - adult onset v1.100 POLG Louise Daugherty Source Wessex and West Midlands GLH was added to POLG.
Neurodegenerative disorders - adult onset v1.100 PNPLA6 Louise Daugherty Source Wessex and West Midlands GLH was added to PNPLA6.
Neurodegenerative disorders - adult onset v1.100 PNKP Louise Daugherty Source Wessex and West Midlands GLH was added to PNKP.
Neurodegenerative disorders - adult onset v1.100 PNKD Louise Daugherty Source Wessex and West Midlands GLH was added to PNKD.
Neurodegenerative disorders - adult onset v1.100 PMPCA Louise Daugherty Source Wessex and West Midlands GLH was added to PMPCA.
Neurodegenerative disorders - adult onset v1.100 PLP1 Louise Daugherty Source Wessex and West Midlands GLH was added to PLP1.
Neurodegenerative disorders - adult onset v1.100 PLA2G6 Louise Daugherty Source Wessex and West Midlands GLH was added to PLA2G6.
Neurodegenerative disorders - adult onset v1.100 PINK1 Louise Daugherty Source Wessex and West Midlands GLH was added to PINK1.
Neurodegenerative disorders - adult onset v1.100 PFN1 Louise Daugherty Source Wessex and West Midlands GLH was added to PFN1.
Neurodegenerative disorders - adult onset v1.100 PEX16 Louise Daugherty Source Wessex and West Midlands GLH was added to PEX16.
Neurodegenerative disorders - adult onset v1.100 PDYN Louise Daugherty Source Wessex and West Midlands GLH was added to PDYN.
Neurodegenerative disorders - adult onset v1.100 PAX6 Louise Daugherty Source Wessex and West Midlands GLH was added to PAX6.
Neurodegenerative disorders - adult onset v1.100 PARK7 Louise Daugherty Source Wessex and West Midlands GLH was added to PARK7.
Neurodegenerative disorders - adult onset v1.100 PANK2 Louise Daugherty Source Wessex and West Midlands GLH was added to PANK2.
Neurodegenerative disorders - adult onset v1.100 OPTN Louise Daugherty Source Wessex and West Midlands GLH was added to OPTN.
Neurodegenerative disorders - adult onset v1.100 OPHN1 Louise Daugherty Source Wessex and West Midlands GLH was added to OPHN1.
Neurodegenerative disorders - adult onset v1.100 OPA3 Louise Daugherty Source Wessex and West Midlands GLH was added to OPA3.
Neurodegenerative disorders - adult onset v1.100 NPC2 Louise Daugherty Source Wessex and West Midlands GLH was added to NPC2.
Neurodegenerative disorders - adult onset v1.100 NPC1 Louise Daugherty Source Wessex and West Midlands GLH was added to NPC1.
Neurodegenerative disorders - adult onset v1.100 NOTCH3 Louise Daugherty Source Wessex and West Midlands GLH was added to NOTCH3.
Neurodegenerative disorders - adult onset v1.100 NKX6-2 Louise Daugherty Source Wessex and West Midlands GLH was added to NKX6-2.
Neurodegenerative disorders - adult onset v1.100 NIPA1 Louise Daugherty Source Wessex and West Midlands GLH was added to NIPA1.
Neurodegenerative disorders - adult onset v1.100 NHLRC1 Louise Daugherty Source Wessex and West Midlands GLH was added to NHLRC1.
Neurodegenerative disorders - adult onset v1.100 MTTP Louise Daugherty Source Wessex and West Midlands GLH was added to MTTP.
Neurodegenerative disorders - adult onset v1.100 MT-ATP6 Louise Daugherty Source Wessex and West Midlands GLH was added to MT-ATP6.
Neurodegenerative disorders - adult onset v1.100 MRE11 Louise Daugherty Source Wessex and West Midlands GLH was added to MRE11.
Neurodegenerative disorders - adult onset v1.100 MMACHC Louise Daugherty Source Wessex and West Midlands GLH was added to MMACHC.
Neurodegenerative disorders - adult onset v1.100 MECR Louise Daugherty Source Wessex and West Midlands GLH was added to MECR.
Neurodegenerative disorders - adult onset v1.100 MARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to MARS2.
Neurodegenerative disorders - adult onset v1.100 MAPT Louise Daugherty Source Wessex and West Midlands GLH was added to MAPT.
Neurodegenerative disorders - adult onset v1.100 LYST Louise Daugherty Source Wessex and West Midlands GLH was added to LYST.
Neurodegenerative disorders - adult onset v1.100 LRRK2 Louise Daugherty Source Wessex and West Midlands GLH was added to LRRK2.
Neurodegenerative disorders - adult onset v1.100 L1CAM Louise Daugherty Source Wessex and West Midlands GLH was added to L1CAM.
Neurodegenerative disorders - adult onset v1.100 KMT2B Louise Daugherty Source Wessex and West Midlands GLH was added to KMT2B.
Neurodegenerative disorders - adult onset v1.100 KIF5A Louise Daugherty Source Wessex and West Midlands GLH was added to KIF5A.
Neurodegenerative disorders - adult onset v1.100 KIF1C Louise Daugherty Source Wessex and West Midlands GLH was added to KIF1C.
Neurodegenerative disorders - adult onset v1.100 KIF1A Louise Daugherty Source Wessex and West Midlands GLH was added to KIF1A.
Neurodegenerative disorders - adult onset v1.100 KIDINS220 Louise Daugherty Source Wessex and West Midlands GLH was added to KIDINS220.
Neurodegenerative disorders - adult onset v1.100 KCNQ3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNQ3.
Neurodegenerative disorders - adult onset v1.100 KCNQ2 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNQ2.
Neurodegenerative disorders - adult onset v1.100 KCNJ10 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNJ10.
Neurodegenerative disorders - adult onset v1.100 KCND3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCND3.
Neurodegenerative disorders - adult onset v1.100 KCNC3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNC3.
Neurodegenerative disorders - adult onset v1.100 KCNA1 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNA1.
Neurodegenerative disorders - adult onset v1.100 ITPR1 Louise Daugherty Source Wessex and West Midlands GLH was added to ITPR1.
Neurodegenerative disorders - adult onset v1.100 ITM2B Louise Daugherty Source Wessex and West Midlands GLH was added to ITM2B.
Neurodegenerative disorders - adult onset v1.100 HTRA2 Louise Daugherty Source Wessex and West Midlands GLH was added to HTRA2.
Neurodegenerative disorders - adult onset v1.100 HSPD1 Louise Daugherty Source Wessex and West Midlands GLH was added to HSPD1.
Neurodegenerative disorders - adult onset v1.100 HPCA Louise Daugherty Source Wessex and West Midlands GLH was added to HPCA.
Neurodegenerative disorders - adult onset v1.100 HNRNPA1 Louise Daugherty Source Wessex and West Midlands GLH was added to HNRNPA1.
Neurodegenerative disorders - adult onset v1.100 HEXB Louise Daugherty Source Wessex and West Midlands GLH was added to HEXB.
Neurodegenerative disorders - adult onset v1.100 HEXA Louise Daugherty Source Wessex and West Midlands GLH was added to HEXA.
Neurodegenerative disorders - adult onset v1.100 GRN Louise Daugherty Source Wessex and West Midlands GLH was added to GRN.
Neurodegenerative disorders - adult onset v1.100 GRM1 Louise Daugherty Source Wessex and West Midlands GLH was added to GRM1.
Neurodegenerative disorders - adult onset v1.100 GRID2 Louise Daugherty Source Wessex and West Midlands GLH was added to GRID2.
Neurodegenerative disorders - adult onset v1.100 GPAA1 Louise Daugherty Source Wessex and West Midlands GLH was added to GPAA1.
Neurodegenerative disorders - adult onset v1.100 GOSR2 Louise Daugherty Source Wessex and West Midlands GLH was added to GOSR2.
Neurodegenerative disorders - adult onset v1.100 GNAO1 Louise Daugherty Source Wessex and West Midlands GLH was added to GNAO1.
Neurodegenerative disorders - adult onset v1.100 GLRB Louise Daugherty Source Wessex and West Midlands GLH was added to GLRB.
Neurodegenerative disorders - adult onset v1.100 GLRA1 Louise Daugherty Source Wessex and West Midlands GLH was added to GLRA1.
Neurodegenerative disorders - adult onset v1.100 GJC2 Louise Daugherty Source Wessex and West Midlands GLH was added to GJC2.
Neurodegenerative disorders - adult onset v1.100 GFAP Louise Daugherty Source Wessex and West Midlands GLH was added to GFAP.
Neurodegenerative disorders - adult onset v1.100 GBA2 Louise Daugherty Source Wessex and West Midlands GLH was added to GBA2.
Neurodegenerative disorders - adult onset v1.100 GBA Louise Daugherty Source Wessex and West Midlands GLH was added to GBA.
Neurodegenerative disorders - adult onset v1.100 FXN Louise Daugherty Source Wessex and West Midlands GLH was added to FXN.
Neurodegenerative disorders - adult onset v1.100 FUS Louise Daugherty Source Wessex and West Midlands GLH was added to FUS.
Neurodegenerative disorders - adult onset v1.100 FTL Louise Daugherty Source Wessex and West Midlands GLH was added to FTL.
Neurodegenerative disorders - adult onset v1.100 FOLR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FOLR1.
Neurodegenerative disorders - adult onset v1.100 FMR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FMR1.
Neurodegenerative disorders - adult onset v1.100 FLVCR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FLVCR1.
Neurodegenerative disorders - adult onset v1.100 FIG4 Louise Daugherty Source Wessex and West Midlands GLH was added to FIG4.
Neurodegenerative disorders - adult onset v1.100 FGF14 Louise Daugherty Source Wessex and West Midlands GLH was added to FGF14.
Neurodegenerative disorders - adult onset v1.100 FBXO7 Louise Daugherty Source Wessex and West Midlands GLH was added to FBXO7.
Neurodegenerative disorders - adult onset v1.100 FARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to FARS2.
Neurodegenerative disorders - adult onset v1.100 FA2H Louise Daugherty Source Wessex and West Midlands GLH was added to FA2H.
Neurodegenerative disorders - adult onset v1.100 EXOSC3 Louise Daugherty Source Wessex and West Midlands GLH was added to EXOSC3.
Neurodegenerative disorders - adult onset v1.100 ERLIN2 Louise Daugherty Source Wessex and West Midlands GLH was added to ERLIN2.
Neurodegenerative disorders - adult onset v1.100 EPM2A Louise Daugherty Source Wessex and West Midlands GLH was added to EPM2A.
Neurodegenerative disorders - adult onset v1.100 ELOVL4 Louise Daugherty Source Wessex and West Midlands GLH was added to ELOVL4.
Neurodegenerative disorders - adult onset v1.100 EIF2B5 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B5.
Neurodegenerative disorders - adult onset v1.100 EIF2B4 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B4.
Neurodegenerative disorders - adult onset v1.100 EIF2B3 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B3.
Neurodegenerative disorders - adult onset v1.100 EIF2B2 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B2.
Neurodegenerative disorders - adult onset v1.100 EIF2B1 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B1.
Neurodegenerative disorders - adult onset v1.100 DNMT1 Louise Daugherty Source Wessex and West Midlands GLH was added to DNMT1.
Neurodegenerative disorders - adult onset v1.100 DNAJC6 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC6.
Neurodegenerative disorders - adult onset v1.100 DNAJC5 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC5.
Neurodegenerative disorders - adult onset v1.100 DNAJC19 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC19.
Neurodegenerative disorders - adult onset v1.100 DDHD2 Louise Daugherty Source Wessex and West Midlands GLH was added to DDHD2.
Neurodegenerative disorders - adult onset v1.100 DDHD1 Louise Daugherty Source Wessex and West Midlands GLH was added to DDHD1.
Neurodegenerative disorders - adult onset v1.100 DCTN1 Louise Daugherty Source Wessex and West Midlands GLH was added to DCTN1.
Neurodegenerative disorders - adult onset v1.100 DCAF17 Louise Daugherty Source Wessex and West Midlands GLH was added to DCAF17.
Neurodegenerative disorders - adult onset v1.100 DARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to DARS2.
Neurodegenerative disorders - adult onset v1.100 CYP7B1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP7B1.
Neurodegenerative disorders - adult onset v1.100 CYP2U1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP2U1.
Neurodegenerative disorders - adult onset v1.100 CYP27A1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP27A1.
Neurodegenerative disorders - adult onset v1.100 CWF19L1 Louise Daugherty Source Wessex and West Midlands GLH was added to CWF19L1.
Neurodegenerative disorders - adult onset v1.100 CSTB Louise Daugherty Source Wessex and West Midlands GLH was added to CSTB.
Neurodegenerative disorders - adult onset v1.100 CSF1R Louise Daugherty Source Wessex and West Midlands GLH was added to CSF1R.
Neurodegenerative disorders - adult onset v1.100 CP Louise Daugherty Source Wessex and West Midlands GLH was added to CP.
Neurodegenerative disorders - adult onset v1.100 COX20 Louise Daugherty Source Wessex and West Midlands GLH was added to COX20.
Neurodegenerative disorders - adult onset v1.100 COQ8A Louise Daugherty Source Wessex and West Midlands GLH was added to COQ8A.
Neurodegenerative disorders - adult onset v1.100 COASY Louise Daugherty Source Wessex and West Midlands GLH was added to COASY.
Neurodegenerative disorders - adult onset v1.100 CLN6 Louise Daugherty Source Wessex and West Midlands GLH was added to CLN6.
Neurodegenerative disorders - adult onset v1.100 CLCN2 Louise Daugherty Source Wessex and West Midlands GLH was added to CLCN2.
Neurodegenerative disorders - adult onset v1.100 CHMP2B Louise Daugherty Source Wessex and West Midlands GLH was added to CHMP2B.
Neurodegenerative disorders - adult onset v1.100 CHMP1A Louise Daugherty Source Wessex and West Midlands GLH was added to CHMP1A.
Neurodegenerative disorders - adult onset v1.100 CASK Louise Daugherty Source Wessex and West Midlands GLH was added to CASK.
Neurodegenerative disorders - adult onset v1.100 CAPN1 Louise Daugherty Source Wessex and West Midlands GLH was added to CAPN1.
Neurodegenerative disorders - adult onset v1.100 CAMTA1 Louise Daugherty Source Wessex and West Midlands GLH was added to CAMTA1.
Neurodegenerative disorders - adult onset v1.100 CACNB4 Louise Daugherty Source Wessex and West Midlands GLH was added to CACNB4.
Neurodegenerative disorders - adult onset v1.100 CACNA1G Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1G.
Neurodegenerative disorders - adult onset v1.100 CACNA1A Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1A.
Neurodegenerative disorders - adult onset v1.100 CA8 Louise Daugherty Source Wessex and West Midlands GLH was added to CA8.
Neurodegenerative disorders - adult onset v1.100 C19orf12 Louise Daugherty Source Wessex and West Midlands GLH was added to C19orf12.
Neurodegenerative disorders - adult onset v1.100 C12orf65 Louise Daugherty Source Wessex and West Midlands GLH was added to C12orf65.
Neurodegenerative disorders - adult onset v1.100 BSCL2 Louise Daugherty Source Wessex and West Midlands GLH was added to BSCL2.
Neurodegenerative disorders - adult onset v1.100 B4GALNT1 Louise Daugherty Source Wessex and West Midlands GLH was added to B4GALNT1.
Neurodegenerative disorders - adult onset v1.100 ATP7B Louise Daugherty Source Wessex and West Midlands GLH was added to ATP7B.
Neurodegenerative disorders - adult onset v1.100 ATP1A3 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP1A3.
Neurodegenerative disorders - adult onset v1.100 ATP1A2 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP1A2.
Neurodegenerative disorders - adult onset v1.100 ATP13A2 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP13A2.
Neurodegenerative disorders - adult onset v1.100 ATM Louise Daugherty Source Wessex and West Midlands GLH was added to ATM.
Neurodegenerative disorders - adult onset v1.100 ATL1 Louise Daugherty Source Wessex and West Midlands GLH was added to ATL1.
Neurodegenerative disorders - adult onset v1.100 ATCAY Louise Daugherty Source Wessex and West Midlands GLH was added to ATCAY.
Neurodegenerative disorders - adult onset v1.100 ARSA Louise Daugherty Source Wessex and West Midlands GLH was added to ARSA.
Neurodegenerative disorders - adult onset v1.100 AR Louise Daugherty Source Wessex and West Midlands GLH was added to AR.
Neurodegenerative disorders - adult onset v1.100 APTX Louise Daugherty Source Wessex and West Midlands GLH was added to APTX.
Neurodegenerative disorders - adult onset v1.100 APP Louise Daugherty Source Wessex and West Midlands GLH was added to APP.
Neurodegenerative disorders - adult onset v1.100 AP4S1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4S1.
Neurodegenerative disorders - adult onset v1.100 AP4M1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4M1.
Neurodegenerative disorders - adult onset v1.100 AP4E1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4E1.
Neurodegenerative disorders - adult onset v1.100 AP4B1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4B1.
Neurodegenerative disorders - adult onset v1.100 AP1S2 Louise Daugherty Source Wessex and West Midlands GLH was added to AP1S2.
Neurodegenerative disorders - adult onset v1.100 ANO3 Louise Daugherty Source Wessex and West Midlands GLH was added to ANO3.
Neurodegenerative disorders - adult onset v1.100 ANO10 Louise Daugherty Source Wessex and West Midlands GLH was added to ANO10.
Neurodegenerative disorders - adult onset v1.100 ANG Louise Daugherty Source Wessex and West Midlands GLH was added to ANG.
Neurodegenerative disorders - adult onset v1.100 AMPD2 Louise Daugherty Source Wessex and West Midlands GLH was added to AMPD2.
Neurodegenerative disorders - adult onset v1.100 ALS2 Louise Daugherty Source Wessex and West Midlands GLH was added to ALS2.
Neurodegenerative disorders - adult onset v1.100 ALDH18A1 Louise Daugherty Source Wessex and West Midlands GLH was added to ALDH18A1.
Neurodegenerative disorders - adult onset v1.100 AIMP1 Louise Daugherty Source Wessex and West Midlands GLH was added to AIMP1.
Neurodegenerative disorders - adult onset v1.100 AFG3L2 Louise Daugherty Source Wessex and West Midlands GLH was added to AFG3L2.
Neurodegenerative disorders - adult onset v1.100 ADCY5 Louise Daugherty Source Wessex and West Midlands GLH was added to ADCY5.
Neurodegenerative disorders - adult onset v1.100 ADAR Louise Daugherty Source Wessex and West Midlands GLH was added to ADAR.
Neurodegenerative disorders - adult onset v1.100 ABHD12 Louise Daugherty Source Wessex and West Midlands GLH was added to ABHD12.
Neurodegenerative disorders - adult onset v1.100 ABCB7 Louise Daugherty Source Wessex and West Midlands GLH was added to ABCB7.
Neurodegenerative disorders - adult onset v1.100 AAAS Louise Daugherty Source Wessex and West Midlands GLH was added to AAAS.
Neurodegenerative disorders - adult onset v1.99 VAMP1 Tracy Lester reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 TAF1 Tracy Lester reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation), Dystonia-Parkinsonism, X-linked, 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 REEP2 Tracy Lester reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 NEFH Tracy Lester reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptibility to amyotrophic lateral sclerosis (ALS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 MVK Tracy Lester reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 MAG Tracy Lester reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 KDM5C Tracy Lester reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 KCNK18 Tracy Lester reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.99 IBA57 Tracy Lester reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GNAL Tracy Lester reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: adult-onset cranio-cervical dystonia, Dystonia 25, 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 GCH1 Tracy Lester reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 DMXL2 Tracy Lester reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensorineural Hearing Loss, ORPHA90636, OMIM:612186; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 DARS Tracy Lester reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 COG5 Tracy Lester reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi 613612; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CIZ1 Tracy Lester reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22447717; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.99 CHCHD2 Tracy Lester reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 CDK16 Tracy Lester reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.99 HACE1 Tracy Lester reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ERLIN1 Tracy Lester reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ARG1 Tracy Lester reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ABCD1 Tracy Lester reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 ZFYVE26 Tracy Lester reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 YY1 Tracy Lester reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 WWOX Tracy Lester reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 12, 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 WFS1 Tracy Lester reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 WDR81 Tracy Lester reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 WDR73 Tracy Lester reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 WDR45B Tracy Lester reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 WDR45 Tracy Lester reviewed gene: WDR45: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, beta-propeller protein-associated neurodegeneration; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 WASHC5 Tracy Lester reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 VRK1 Tracy Lester reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 1A (#607596); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 VPS35 Tracy Lester reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 17, 614203, Parkinson Disease, Dominant, late onset parkinson disease, PARKINSON DISEASE 17, PARK17; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 VPS13D Tracy Lester reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 VPS13A Tracy Lester reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: complex parkinsonism, Complex parkinsonism, 200150, Choreoacanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 VLDLR Tracy Lester reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 VCP Tracy Lester reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954, familial amyotrophic lateral sclerosis (ALS14), Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 VAPB Tracy Lester reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 8, 608627, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 VAC14 Tracy Lester reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 UBQLN2 Tracy Lester reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 TYROBP Tracy Lester reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 TWNK Tracy Lester reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar Ataxia, Recessive, Ataxia Neuropathy Spectrum Disorders, Dominant, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286, Perrault syndrome 5, 616138, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 TUBB4A Tracy Lester reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 6 612438, ?Dystonia 4, torsion, autosomal dominant, 128101, hypomyelinating leukodystrophy 6, Implicated autosomal dominant variants in two families with ataxia, Dystonia, Torsion dystonia 4 (128101) - some individuals with ataxia, ataxia, hereditary whispering dysphonia, Complex parkinsonism, hypomyelinating leukodystrophy 6 (612438) - ataxia reported., Dystonia 4, torsion, autosomal dominant 128101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 TTPA Tracy Lester reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 TTC19 Tracy Lester reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 TTBK2 Tracy Lester reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 TSEN54 Tracy Lester reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 TSEN2 Tracy Lester reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 TPP1 Tracy Lester reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 TOR1A Tracy Lester reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: primary torsion dystonia (DYT1), early-onset isolated dystonia, Dystonia-1, torsion, 128100, Autosomal dominant or sporadic dystonia (DYT1), Early-Onset Primary Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 TMEM240 Tracy Lester reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 THAP1 Tracy Lester reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Dystonia 6, torsion, 602629, DYT6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 TH Tracy Lester reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Segawa syndrome, DOPA-responsive dystonia, infantile parkinsonism, Segawa syndrome, recessive, 605407, paediatric form of dopa responsive dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 TGM6 Tracy Lester reviewed gene: TGM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35, 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 TBK1 Tracy Lester reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FTLD, ALS, fronto-temporal dementia, Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 TARDBP Tracy Lester reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal Dementia, Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 SYNJ1 Tracy Lester reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 20, early-onset, 615530, Early Onset Complex Disease, juvenile Parkinsonism, Parkinson disease 20, early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SYNE1 Tracy Lester reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 STUB1 Tracy Lester reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SRD5A3 Tracy Lester reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SPTBN2 Tracy Lester reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), Spinocerebellar ataxia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 SPR Tracy Lester reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SPG7 Tracy Lester reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SPG21 Tracy Lester reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SPG11 Tracy Lester reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SPAST Tracy Lester reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 SPART Tracy Lester reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SOD1 Tracy Lester reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 1, 105400, amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 SNX14 Tracy Lester reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia (#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SNCA Tracy Lester reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4), Parkinson disease 4, 605543, Parkinson disease 1, 168601, Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 SLC9A6 Tracy Lester reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SLC6A3 Tracy Lester reviewed gene: SLC6A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinsonism-dystonia, infantile, 613135, {Nicotine dependence, protection against}, 188890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SLC52A3 Tracy Lester reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 SLC52A2 Tracy Lester reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SLC39A14 Tracy Lester reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypermanganesemia with dystonia 2 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SLC30A10 Tracy Lester reviewed gene: SLC30A10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease, Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 DEFICIENCY SYNDROME 1, dystonia 9, GLUT1 deficiency syndrome 1, infantile onset, severe, EPILEPSY, IDIOPATHIC GENERALIZED, Dystonia, GLUT1 deficiency syndrome 2, childhood onset, GLUT1 deficiency syndrome 1, 606777, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SLC25A46 Tracy Lester reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SLC1A4 Tracy Lester reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SLC1A3 Tracy Lester reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPISODIC ATAXIA, TYPE 6, Episodic ataxia, type 6,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 SLC16A2 Tracy Lester reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.99 SIL1 Tracy Lester reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SIGMAR1 Tracy Lester reviewed gene: SIGMAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 16, juvenile, 614373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SGCE Tracy Lester reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myoclonus dystonia syndrome, Myoclonus-Dystonia, maternally imprinted Dystonia-11, myoclonic, 159900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Neurodegenerative disorders - adult onset v1.99 SETX Tracy Lester reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433, ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia, Ataxia-ocular apraxia-2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SERAC1 Tracy Lester reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDEL syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SEPSECS Tracy Lester reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D (613811); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Cognitive impairment with or without cerebellar ataxia, 614306, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: several epilepsy, convulsion and migraine disorders., familial hemiplegic migraine 3, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 SAR1B Tracy Lester reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 SACS Tracy Lester reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 RTN2 Tracy Lester reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 RNF216 Tracy Lester reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 RNF170 Tracy Lester reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, sensory, 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 REEP1 Tracy Lester reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 RARS2 Tracy Lester reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 RAB39B Tracy Lester reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset parkinsonism and intellectual disability, ?Waisman 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)
Neurodegenerative disorders - adult onset v1.99 PSEN2 Tracy Lester reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 PSEN1 Tracy Lester reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acne inversa, familial, 3, 613737, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822, Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Dystonia, Dementia, frontotemporal, 600274, Pick disease, 172700, Clinical syndrome Alzheimer disease, Alzheimer disease, type 3, 607822, Cardiomyopathy, dilated, 1U, 613694, Alzheimer disease, type 3, with spastic paraparesis and apraxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia and occasionally hemiplegic migraine and epilepsy, episodic kinesigenic dyskinesia, EPISODIC KINESIGENIC DYSKINESIA 1, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions, SEIZURES, BENIGN FAMILIAL INFANTILE, 2, Episodic kinesigenic dyskinesia 1, 128200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 PRNP Tracy Lester reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 PRKRA Tracy Lester reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Early-Onset Generalized Dystonia-Parkinsonism, Dystonia 16, Dystonia, Dystonia 16, 612067, early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PRKN Tracy Lester reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease, juvenile, type 2, Dystonia, Parkinson Disease 2, Autosomal Recessive Juvenile, juvenile parkinsonism/dystonia, Parkinson Disease, Juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PRKCG Tracy Lester reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 POLR3A Tracy Lester reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal Recessive Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 POLG Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PNPLA6 Tracy Lester reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470), Spastic paraplegia 39, autosomal recessive, Oliver-McFarlane syndrome (#603197), Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PNKP Tracy Lester reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with oculomotor apraxia 4 (#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PNKD Tracy Lester reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paroxysmal Nonkinesigenic Dyskinesia, PAROXYSMAL NONKINESIGENIC DYSKINESIA 1, Paroxysmal nonkinesigenic dyskinesia, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 PMPCA Tracy Lester reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PLP1 Tracy Lester reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.99 PLA2G6 Tracy Lester reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1, 256600, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation 2B, 610217, Infantile neuroaxonal dystrophy 1 (#256600), Neurodegeneration with brain iron accumulation 2B (#610217), Parkinson disease 14 (#612953), Parkinson disease 14, 612953, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PINK1 Tracy Lester reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 6, early onset, 605909, Dystonia, Parkinson Disease 6, Autosomal Recessive Early-Onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PFN1 Tracy Lester reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 18, 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 PEX16 Tracy Lester reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PDYN Tracy Lester reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 23; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 PAX6 Tracy Lester reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, Cerebellar Ataxia, And Mental Retardation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PARK7 Tracy Lester reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 PANK2 Tracy Lester reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 OPTN Tracy Lester reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glaucoma 1, open angle, E, 137760, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 OPHN1 Tracy Lester reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 OPA3 Tracy Lester reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 NPC2 Tracy Lester reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Niemann-Pick disease type C2 (#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 NPC1 Tracy Lester reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease types C1 and D (#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 NOTCH3 Tracy Lester reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 NKX6-2 Tracy Lester reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 NIPA1 Tracy Lester reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 NHLRC1 Tracy Lester reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 MTTP Tracy Lester reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 MT-ATP6 Tracy Lester reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Ataxia, and Retinitis Pigmentosa; Mode of inheritance: MITOCHONDRIAL
Neurodegenerative disorders - adult onset v1.99 MRE11 Tracy Lester reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder, Ataxia-Telangiectasia-Like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 MMACHC Tracy Lester reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 MECR Tracy Lester reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 MARS2 Tracy Lester reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 MAPT Tracy Lester reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, frontotemporal, with or without parkinsonism, 600274, Tauopathy and r, Supranuclear palsy, progressive, 601104, clinical presentation suggestive of cortico-basal/PSP syndrome, PARKINSON-DEMENTIA SYNDROME, {Parkinson disease, susceptibility to}, 168600, Pick disease, 172700, Clinical syndrome FTLD (Frontotemporal lobar degeneration), Supranuclear palsy, progressive atypical, 260540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 LYST Tracy Lester reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 LRRK2 Tracy Lester reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson Disease 8, Autosomal Dominant, Autosomal dominant Parkinson's disease, Parkinson Disease, Dominant, PARKINSON DISEASE 8, AUTOSOMAL DOMINANT, LRRK2 G2019S mutation, Parkinson disease 8, 607060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 L1CAM Tracy Lester reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.99 KMT2B Tracy Lester reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 KIF5A Tracy Lester reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 KIF1C Tracy Lester reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26410750; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 KIDINS220 Tracy Lester reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 KCNJ10 Tracy Lester reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 KCND3 Tracy Lester reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia19,607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 KCNC3 Tracy Lester reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome,, EPISODIC ATAXIA, TYPE 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 ITPR1 Tracy Lester reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 29, Spinocerebellar ataxia 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 ITM2B Tracy Lester reviewed gene: ITM2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 210391242, 10781099; Phenotypes: Dementia, familial British, 176500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 HTRA2 Tracy Lester reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 18364387, 15961413; Phenotypes: Parkinson Disease, Dominant, Parkinson disease 13, 610297, 3-methylglutaconic aciduria, type VIII 617248; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 HSPD1 Tracy Lester reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30564185, 25326637, 17420924, 18378094 ; Phenotypes: Spastic paraplegia 13, autosomal dominant 605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 HPCA Tracy Lester reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: 30145809, 25799108; Phenotypes: Dystonia 2, torsion, autosomal recessive, 224500, generalized dystonia with additional neurological features, adolescence-onset segmental dystonia, childhood-onset generalized dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 HNRNPA1 Tracy Lester reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23455423, 29033165, 27694260 ; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3 615424, ALS type 20 615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 HEXB Tracy Lester reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 20798201; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 HEXA Tracy Lester reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GRN Tracy Lester reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: clinical presentation suggestive of cortico-basal/PSP syndrome, Complex parkinsonism, Frontotemporal Dementia, frontotemporal lobar degeneration with TDP43 inclusions, Clinical syndrome FTLD (Frontotemporal lobar degeneration); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 GRM1 Tracy Lester reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GRID2 Tracy Lester reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GPAA1 Tracy Lester reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GOSR2 Tracy Lester reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GNAO1 Tracy Lester reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with involuntary movements, 617493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 GLRB Tracy Lester reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia, hereditary 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GJC2 Tracy Lester reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25059390; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GFAP Tracy Lester reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Dominant Ataxia, Alexander disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 GBA2 Tracy Lester reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 GBA Tracy Lester reviewed gene: GBA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Parkinson disease, late-onset, susceptibility to}, 168600, Gaucher disease, type I, 230800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 FXN Tracy Lester reviewed gene: FXN: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 FUS Tracy Lester reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 FTL Tracy Lester reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 FOLR1 Tracy Lester reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 FMR1 Tracy Lester reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI), males with a tremor phenotype, FragileXtremor/ataxiasyndrome,300623; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 FLVCR1 Tracy Lester reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 FIG4 Tracy Lester reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 FGF14 Tracy Lester reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 27; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 FBXO7 Tracy Lester reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson Disease, Recessive, Dystonia, juvenile parkinsonism, parkinsonian-pyramidal syndrome, Parkinson disease 15, autosomal recessive, 260300, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 FARS2 Tracy Lester reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 FA2H Tracy Lester reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 EXOSC3 Tracy Lester reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ERLIN2 Tracy Lester reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23085305, 27824013; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 EPM2A Tracy Lester reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ELOVL4 Tracy Lester reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 34 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 EIF2B5 Tracy Lester reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 EIF2B4 Tracy Lester reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 EIF2B3 Tracy Lester reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 EIF2B2 Tracy Lester reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 EIF2B1 Tracy Lester reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 DNMT1 Tracy Lester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, Deafness, and Sensory Neuropathy, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 DNAJC6 Tracy Lester reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, Parkinson disease 19, juvenile-onset, 615528, Parkinson disease 19a, juvenile-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 DNAJC5 Tracy Lester reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 DNAJC19 Tracy Lester reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V 610198, dilated cardiomyopathy with ataxia (DCMA) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 DDHD2 Tracy Lester reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132., Spastic paraplegia 54, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 DDHD1 Tracy Lester reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 DCTN1 Tracy Lester reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625595, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 DCAF17 Tracy Lester reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Woodhouse-Sakati syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 DARS2 Tracy Lester reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CYP7B1 Tracy Lester reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CYP2U1 Tracy Lester reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CYP27A1 Tracy Lester reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CWF19L1 Tracy Lester reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CSTB Tracy Lester reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A, 254800, Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800, microcephaly and severe dyskinesia (26843564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CSF1R Tracy Lester reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 CP Tracy Lester reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Aceruloplasminemia, Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 COX20 Tracy Lester reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30656193; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 COQ8A Tracy Lester reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 COASY Tracy Lester reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CLN6 Tracy Lester reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CLCN2 Tracy Lester reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 2}, 607628, {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628, {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628, Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CHMP2B Tracy Lester reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: familial frontotemporal lobar degeneration (ALS17), Dystonia, Frontotemporal Dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Dementia, familial, nonspecific, 600795, Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696, Amyotrophic lateral sclerosis 17, 614696; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 CHMP1A Tracy Lester reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CASK Tracy Lester reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 CAPN1 Tracy Lester reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 CAMTA1 Tracy Lester reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellarataxia, nonprogressive, with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 CACNA1G Tracy Lester reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 28726809; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: episodic ataxia type 2 (EA2),108500, familial hemiplegic migraine type 1, 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Dystonia, Spinocerebellar ataxia 6, Episodic ataxia, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 CA8 Tracy Lester reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 C19orf12 Tracy Lester reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 C12orf65 Tracy Lester reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 BSCL2 Tracy Lester reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 B4GALNT1 Tracy Lester reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ATP7B Tracy Lester reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease 277900, Dystonia, Wilson Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820, CAPOS syndrome, DYSTONIA 12, 128235, Dystonia-12, alternating hemiplegia of childhood, Dystonia-12, 128235, Rapid-Onset Dystonia-Parkinsonism, rapid-onset dystonia-parkinsonism, Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338), Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: 30690204; Phenotypes: Dystonia, alternating hemiplegia of childhood 104290, familial basilar migraine 602481, migraine, familial hemiplegic migraine type 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 ATP13A2 Tracy Lester reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 9, 606693, Dystonia, Kufor-Rakeb syndrome, Kufor-Rakeb Syndrome, Parkinson disease, Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ATM Tracy Lester reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Ataxia-Telangiectasia, Ataxia telangiectasia, Ataxia-telangiectasia,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ATL1 Tracy Lester reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 ATCAY Tracy Lester reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, cerebellar, Cayman type, Cerebellar Ataxia, Cayman type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ARSA Tracy Lester reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy (#250100), Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 AR Tracy Lester reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.99 APTX Tracy Lester reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 APP Tracy Lester reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Clinical syndrome Alzheimer disease, Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 AP4S1 Tracy Lester reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: developmental delay, seizures, Spastic paraplegia 52, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 AP4M1 Tracy Lester reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 AP4E1 Tracy Lester reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 AP4B1 Tracy Lester reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 AP1S2 Tracy Lester reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Mental retardation, X-linked syndromic 5, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 ANO3 Tracy Lester reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: 30502610, 28283962; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 ANO10 Tracy Lester reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ANG Tracy Lester reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 9, 611895, Amyotrophic Lateral Sclerosis, Dominant, familial amyotrophic lateral sclerosis (ALS9); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.99 AMPD2 Tracy Lester reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014)., Hereditary Spastic Paraplegia?, Pontocerebellar hypoplasia 9 (#615809), Pontocerebellar hypolplasia (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ALS2 Tracy Lester reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ALDH18A1 Tracy Lester reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 AIMP1 Tracy Lester reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 AFG3L2 Tracy Lester reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ADCY5 Tracy Lester reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia, Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.99 ADAR Tracy Lester reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010, dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ABHD12 Tracy Lester reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.99 ABCB7 Tracy Lester reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia,, Sideroblastic Anemia and Ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.99 AAAS Tracy Lester reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.98 GBA Louise Daugherty changed review comment from: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call Friday 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber.; to: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call Friday 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber. Rating changed from Green to Amber
Neurodegenerative disorders - adult onset v1.98 GBA Louise Daugherty Classified gene: GBA as Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v1.98 GBA Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call Friday 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber.
Neurodegenerative disorders - adult onset v1.98 GBA Louise Daugherty Gene: gba has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders - adult onset v1.97 GBA Arianna Tucci reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.97 GIGYF2 Louise Daugherty Publications for gene: GIGYF2 were set to 20044296; 26134514; 18923002; 19279319; 19250854; 19321232; 20060621; 19449032; 201788319; 18358451; 19429085; 20685231; 19482505
Neurodegenerative disorders - adult onset v1.96 GIGYF2 Louise Daugherty Mode of inheritance for gene: GIGYF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.95 GCDH Louise Daugherty Phenotypes for gene: GCDH were changed from Dystonia to Dystonia; Glutaricaciduria, type I, 231670
Neurodegenerative disorders - adult onset v1.94 GCDH Louise Daugherty Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.93 HTRA1 Louise Daugherty Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.92 HTRA1 Louise Daugherty Phenotypes for gene: HTRA1 were changed from Dementia to Dementia; CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
Neurodegenerative disorders - adult onset v1.91 BCAP31 Louise Daugherty Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.90 TREM2 Louise Daugherty Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.89 SLC20A2 Louise Daugherty Phenotypes for gene: SLC20A2 were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 1, 158378
Neurodegenerative disorders - adult onset v1.88 SLC20A2 Louise Daugherty Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.87 PDGFRB Louise Daugherty Phenotypes for gene: PDGFRB were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 4, 615007
Neurodegenerative disorders - adult onset v1.86 PDGFRB Louise Daugherty Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.85 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from to Autosomal Recessive Primary Familial Brain Calcification
Neurodegenerative disorders - adult onset v1.84 KIAA1161 Louise Daugherty Mode of inheritance for gene: KIAA1161 was changed from to BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.83 CCNF Louise Daugherty Phenotypes for gene: CCNF were changed from to Frontotemporal dementia / amyotrophic lateral sclerosis
Neurodegenerative disorders - adult onset v1.82 CCNF Louise Daugherty Mode of inheritance for gene: CCNF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.81 XPR1 Louise Daugherty Publications for gene XPR1 were changed from to 26231937; 25938945
Neurodegenerative disorders - adult onset v1.81 WDR45 Louise Daugherty Publications for gene WDR45 were changed from to 23176820; 23435086
Neurodegenerative disorders - adult onset v1.81 VRK1 Louise Daugherty Publications for gene VRK1 were changed from to 26583493
Neurodegenerative disorders - adult onset v1.81 VCP Louise Daugherty Publications for gene VCP were changed from 26511028; 25618255; 27178390; 25457024; 23881933; 25492614 to 26511028; 23498975; 27178390; 25492614; 21145000; 23881933; 25618255; 25457024
Neurodegenerative disorders - adult onset v1.81 VAPB Louise Daugherty Publications for gene VAPB were changed from to 18555774; 15372378
Neurodegenerative disorders - adult onset v1.81 UBQLN2 Louise Daugherty Publications for gene UBQLN2 were changed from to 23541532; 21857683
Neurodegenerative disorders - adult onset v1.81 TYROBP Louise Daugherty Publications for gene TYROBP were changed from 15049507 to 12370476; 15049507; 10888890
Neurodegenerative disorders - adult onset v1.81 TWNK Louise Daugherty Publications for gene TWNK were changed from to 19513767
Neurodegenerative disorders - adult onset v1.81 TUBB4A Louise Daugherty Publications for gene TUBB4A were changed from PMID: 25497598; 27809427 to 25374358; 27809427; 25497598
Neurodegenerative disorders - adult onset v1.81 TTC19 Louise Daugherty Publications for gene TTC19 were changed from to 23532514; 21278747
Neurodegenerative disorders - adult onset v1.81 TREM2 Louise Daugherty Publications for gene TREM2 were changed from to 23318515; 15883308
Neurodegenerative disorders - adult onset v1.81 TMEM240 Louise Daugherty Publications for gene TMEM240 were changed from to 25070513; 18418688
Neurodegenerative disorders - adult onset v1.81 TARDBP Louise Daugherty Publications for gene TARDBP were changed from 23881933; 20697052 to 23881933; 19379745; 20697052; 18372902
Neurodegenerative disorders - adult onset v1.81 TAF1 Louise Daugherty Publications for gene TAF1 were changed from PMID: 12928496; PMID: 26637982; 17273961; PMID: 26879577; PMID: 17273961; 12928496; PMID: 26769797; 17668393; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301662; 26637982; PMID: 23184149; PMID: 2368812 to 11714101; 20301662; 26769797; 2368812; 12928496; 26637982; 17273961; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17668393; 23184149; 26879577
Neurodegenerative disorders - adult onset v1.81 SYNE1 Louise Daugherty Publications for gene SYNE1 were changed from to 27197992; 25681989; 27086870
Neurodegenerative disorders - adult onset v1.81 STUB1 Louise Daugherty Publications for gene STUB1 were changed from to 25592071; 30381368
Neurodegenerative disorders - adult onset v1.81 SQSTM1 Louise Daugherty Publications for gene SQSTM1 were changed from to 22084127; 22972638
Neurodegenerative disorders - adult onset v1.81 SPG21 Louise Daugherty Publications for gene SPG21 were changed from Simpson et al. (2003) to 14564668; 28752238; 24451228
Neurodegenerative disorders - adult onset v1.81 SPG11 Louise Daugherty Publications for gene SPG11 were changed from 19224311; 27820618; Stevanin et al. (2007); 21381113 to 21381113; 22554690; 19224311; 18067136; 27820618)
Neurodegenerative disorders - adult onset v1.81 SPAST Louise Daugherty Publications for gene SPAST were changed from Hazan et al (1999) to 25700176; 16240363
Neurodegenerative disorders - adult onset v1.81 SOD1 Louise Daugherty Publications for gene SOD1 were changed from 23687121 to 23687121; 24501761; 25439728
Neurodegenerative disorders - adult onset v1.81 SNCB Louise Daugherty Publications for gene SNCB were changed from to 15365127; 21045828
Neurodegenerative disorders - adult onset v1.81 SLC6A3 Louise Daugherty Publications for gene SLC6A3 were changed from PMID: 24613933 to 24613933; 21777827; 19478460
Neurodegenerative disorders - adult onset v1.81 SLC39A14 Louise Daugherty Publications for gene SLC39A14 were changed from to 27231142
Neurodegenerative disorders - adult onset v1.81 SLC30A10 Louise Daugherty Publications for gene SLC30A10 were changed from 25778823; 22341972; 22934317; 22926781; 22341971 to 22926781; 22341972; 22934317; 30272946; 22341971; 25778823
Neurodegenerative disorders - adult onset v1.81 SLC20A2 Louise Daugherty Publications for gene SLC20A2 were changed from to 24065723; 24135862
Neurodegenerative disorders - adult onset v1.81 SIGMAR1 Louise Daugherty Publications for gene SIGMAR1 were changed from PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions; PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls to 26088964; 26078401; 21031579; 26088963; 21842496; 27821430
Neurodegenerative disorders - adult onset v1.81 SGCE Louise Daugherty Publications for gene SGCE were changed from 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078 to 12325078; 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23332219; 22626943
Neurodegenerative disorders - adult onset v1.81 SETX Louise Daugherty Publications for gene SETX were changed from 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1). to 15106121; 23129421; 22577233; 23881933; 21438761
Neurodegenerative disorders - adult onset v1.81 RNF216 Louise Daugherty Publications for gene RNF216 were changed from to 11932290; 23656588
Neurodegenerative disorders - adult onset v1.81 RAB39B Louise Daugherty Publications for gene RAB39B were changed from 26399558; 27066548; 27459931; 2639955; 25434005; 27694831 to 27066548; 27694831; 26399558; 27459931; 28851564; 2639955; 25434005
Neurodegenerative disorders - adult onset v1.81 PSEN2 Louise Daugherty Publications for gene PSEN2 were changed from 22503161; 23028126 to 7638622; 23028126; 12925374; 22503161
Neurodegenerative disorders - adult onset v1.81 PSEN1 Louise Daugherty Publications for gene PSEN1 were changed from 22503161; 23028126 to 16033913; 23028126; 7596406; 22503161
Neurodegenerative disorders - adult onset v1.81 PRNP Louise Daugherty Publications for gene PRNP were changed from 20583301; 26791950 to 20583301; 10953183; 26791950; 16831973
Neurodegenerative disorders - adult onset v1.81 PRKRA Louise Daugherty Publications for gene PRKRA were changed from 18420150 - a novel heterozygous variant c.266_267delAT; 25914261; 26990861; 22842711; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; 18243799; 25142429; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 24142417; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 25737287 to 24142417; 25737287 26990861; 18420150.; 25914261; 25737287; 18243799; 26990861; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; 22842711; 25142429
Neurodegenerative disorders - adult onset v1.81 PRKN Louise Daugherty Publications for gene PRKN were changed from PMID: 22956510 to 22956510; 12056932; 9560156
Neurodegenerative disorders - adult onset v1.81 PRKCG Louise Daugherty Publications for gene PRKCG were changed from to 29603387; 12644968
Neurodegenerative disorders - adult onset v1.81 PNPLA6 Louise Daugherty Publications for gene PNPLA6 were changed from Rainier et al. (2008) to 24355708; 18313024; 29749493
Neurodegenerative disorders - adult onset v1.81 PLA2G6 Louise Daugherty Publications for gene PLA2G6 were changed from to 16783378; 18799783
Neurodegenerative disorders - adult onset v1.81 PINK1 Louise Daugherty Publications for gene PINK1 were changed from 15087508 to 15087508; 15349870
Neurodegenerative disorders - adult onset v1.81 PFN1 Louise Daugherty Publications for gene PFN1 were changed from to 24920614; 22801503
Neurodegenerative disorders - adult onset v1.81 PDYN Louise Daugherty Publications for gene PDYN were changed from to 15306549; 21035104
Neurodegenerative disorders - adult onset v1.81 PDGFRB Louise Daugherty Publications for gene PDGFRB were changed from to 24065723; 24796542
Neurodegenerative disorders - adult onset v1.81 PDGFB Louise Daugherty Publications for gene PDGFB were changed from to 29955172; 23913003
Neurodegenerative disorders - adult onset v1.81 PARK7 Louise Daugherty Publications for gene PARK7 were changed from to 11462174; 12446870
Neurodegenerative disorders - adult onset v1.81 PANK2 Louise Daugherty Publications for gene PANK2 were changed from to 15911822; 11479594
Neurodegenerative disorders - adult onset v1.81 OPTN Louise Daugherty Publications for gene OPTN were changed from 20428114 to 26303227; 26203661; 25943890; 25859013; 23889540; 20428114; 25681989
Neurodegenerative disorders - adult onset v1.81 NR4A2 Louise Daugherty Publications for gene NR4A2 were changed from 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233 to 24126627; 15390059; 15184637; 25543265; 27012974; 19429166; 15276233; 12827450; 28385514; 16532445; 12496759
Neurodegenerative disorders - adult onset v1.81 MARS2 Louise Daugherty Publications for gene MARS2 were changed from PubMed: 22448145 to 22448145; 16672289
Neurodegenerative disorders - adult onset v1.81 MAPT Louise Daugherty Publications for gene MAPT were changed from 20301678; 28334843 to 9641683; 9789048; 28334843; 20301678
Neurodegenerative disorders - adult onset v1.81 LRRK2 Louise Daugherty Publications for gene LRRK2 were changed from 28395804; 28395803; 25391693; 27090875; 28395805; 28395802 to 7898705; 28395802; 25391693; 27090875; 28395803; 28395805; 28395804; 15541308
Neurodegenerative disorders - adult onset v1.81 KIF5A Louise Daugherty Publications for gene KIF5A were changed from Reid et al. (2002) to 29954873; 29566793
Neurodegenerative disorders - adult onset v1.81 KIAA1161 Louise Daugherty Publications for gene KIAA1161 were changed from to 30656188; 29910000
Neurodegenerative disorders - adult onset v1.81 KCNC3 Louise Daugherty Publications for gene KCNC3 were changed from to 16501573
Neurodegenerative disorders - adult onset v1.81 ITM2B Louise Daugherty Publications for gene ITM2B were changed from to 29525180; 10391242
Neurodegenerative disorders - adult onset v1.81 HTRA1 Louise Daugherty Publications for gene HTRA1 were changed from to 19387015; 24500651
Neurodegenerative disorders - adult onset v1.81 HSPD1 Louise Daugherty Publications for gene HSPD1 were changed from Hansen et al. (2002) to 18571143; 11898127
Neurodegenerative disorders - adult onset v1.81 HNRNPA1 Louise Daugherty Publications for gene HNRNPA1 were changed from to 23455423
Neurodegenerative disorders - adult onset v1.81 HFE Louise Daugherty Publications for gene HFE were changed from to 17828789
Neurodegenerative disorders - adult onset v1.81 HEXB Louise Daugherty Publications for gene HEXB were changed from to 20798201; 24263030
Neurodegenerative disorders - adult onset v1.81 HEXA Louise Daugherty Publications for gene HEXA were changed from to 28739864; 27033294
Neurodegenerative disorders - adult onset v1.81 GFAP Louise Daugherty Publications for gene GFAP were changed from to 26023202; 29095329
Neurodegenerative disorders - adult onset v1.81 GCH1 Louise Daugherty Publications for gene GCH1 were changed from 24509643; 21935284; http://www.ncbi.nlm.nih.gov/books/NBK1155/ to 25497597; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24509643; 24993959; 21935284
Neurodegenerative disorders - adult onset v1.81 GCDH Louise Daugherty Publications for gene GCDH were changed from to 23884036; 26316201
Neurodegenerative disorders - adult onset v1.81 GBA Louise Daugherty Publications for gene GBA were changed from 29400127; 27779773; 27632223; 27648471; 27717005 to 29400127; 27779773; 15525722; 17620502; 27648471; 27632223; 27717005
Neurodegenerative disorders - adult onset v1.81 FUS Louise Daugherty Publications for gene FUS were changed from to 19251627; 19251628
Neurodegenerative disorders - adult onset v1.81 FOLR1 Louise Daugherty Publications for gene FOLR1 were changed from to 11438811; 12746423
Neurodegenerative disorders - adult onset v1.81 FMR1 Louise Daugherty Publications for gene FMR1 were changed from to 28176767
Neurodegenerative disorders - adult onset v1.81 FIG4 Louise Daugherty Publications for gene FIG4 were changed from PMID: 19118816 to 19118816; 23888880
Neurodegenerative disorders - adult onset v1.81 FGF14 Louise Daugherty Publications for gene FGF14 were changed from to 16211615
Neurodegenerative disorders - adult onset v1.81 FBXO7 Louise Daugherty Publications for gene FBXO7 were changed from to 18513678; 19038853
Neurodegenerative disorders - adult onset v1.81 ERCC6 Louise Daugherty Publications for gene ERCC6 were changed from to 18185538
Neurodegenerative disorders - adult onset v1.81 ERBB4 Louise Daugherty Publications for gene ERBB4 were changed from to 24119685
Neurodegenerative disorders - adult onset v1.81 ELOVL5 Louise Daugherty Publications for gene ELOVL5 were changed from to 25065913
Neurodegenerative disorders - adult onset v1.81 ELOVL4 Louise Daugherty Publications for gene ELOVL4 were changed from 24566826; 26010696 to 5048218; 26010696; 24566826
Neurodegenerative disorders - adult onset v1.81 EIF4G1 Louise Daugherty Publications for gene EIF4G1 were changed from to 21907011
Neurodegenerative disorders - adult onset v1.81 EIF2B5 Louise Daugherty Publications for gene EIF2B5 were changed from to 11835386; 11704758
Neurodegenerative disorders - adult onset v1.81 EIF2B4 Louise Daugherty Publications for gene EIF2B4 were changed from to 11835386; 11704758
Neurodegenerative disorders - adult onset v1.81 EIF2B3 Louise Daugherty Publications for gene EIF2B3 were changed from to 11835386; 11704758
Neurodegenerative disorders - adult onset v1.81 EIF2B2 Louise Daugherty Publications for gene EIF2B2 were changed from to 11835386; 11704758
Neurodegenerative disorders - adult onset v1.81 EIF2B1 Louise Daugherty Publications for gene EIF2B1 were changed from to 11835386; 11704758
Neurodegenerative disorders - adult onset v1.81 DNMT1 Louise Daugherty Publications for gene DNMT1 were changed from 23365052 to 23365052; 8747854; 22328086
Neurodegenerative disorders - adult onset v1.81 DNAJC6 Louise Daugherty Publications for gene DNAJC6 were changed from 22563501; 26528954; 23211418; 26703368; 27687717 to 23211418; 27687717; 26528954; 22563501; 26703368
Neurodegenerative disorders - adult onset v1.81 DNAJC5 Louise Daugherty Publications for gene DNAJC5 were changed from 27604308; 21820099 to 21820099; 27604308; 26610600; 22073189
Neurodegenerative disorders - adult onset v1.81 DCTN1 Louise Daugherty Publications for gene DCTN1 were changed from 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608; 26954557; 25109764 to 26954557; 25109764; 20437543; 24343258; 27132499; 20945553 (Gene Reviews); 27346608; 19136952
Neurodegenerative disorders - adult onset v1.81 DARS2 Louise Daugherty Publications for gene DARS2 were changed from to 19592391
Neurodegenerative disorders - adult onset v1.81 CSF1R Louise Daugherty Publications for gene CSF1R were changed from 23787135 to 22197934; 23038421; 23787135
Neurodegenerative disorders - adult onset v1.81 CP Louise Daugherty Publications for gene CP were changed from to 7708681; 3574673
Neurodegenerative disorders - adult onset v1.81 COQ8A Louise Daugherty Publications for gene COQ8A were changed from to 24048965; 29915382
Neurodegenerative disorders - adult onset v1.81 COASY Louise Daugherty Publications for gene COASY were changed from 27021474 to 27021474; 28489334; 24360804
Neurodegenerative disorders - adult onset v1.81 CLN6 Louise Daugherty Publications for gene CLN6 were changed from to 26115733; 30561534
Neurodegenerative disorders - adult onset v1.81 CHMP2B Louise Daugherty Publications for gene CHMP2B were changed from 20352044 to 16041373; 20352044; 17956895
Neurodegenerative disorders - adult onset v1.81 CHCHD2 Louise Daugherty Publications for gene CHCHD2 were changed from 26067110; Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114 to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114; 26705026; 26067110
Neurodegenerative disorders - adult onset v1.81 CHCHD10 Louise Daugherty Publications for gene CHCHD10 were changed from 30014597; 25113787; 24934289 to 25113787; 30014597; 27810918; 25576308; 24934289
Neurodegenerative disorders - adult onset v1.81 CCDC88C Louise Daugherty Publications for gene CCDC88C were changed from PMID: 25062847 to 25062847; 30398676
Neurodegenerative disorders - adult onset v1.81 CACNA1G Louise Daugherty Publications for gene CACNA1G were changed from to 26715324; 26456284
Neurodegenerative disorders - adult onset v1.81 C19orf12 Louise Daugherty Publications for gene C19orf12 were changed from Landoure (2013) to 23278385; Landoure (2013)
Neurodegenerative disorders - adult onset v1.81 AUH Louise Daugherty Publications for gene AUH were changed from to 20855850
Neurodegenerative disorders - adult onset v1.81 ATP7B Louise Daugherty Publications for gene ATP7B were changed from 20301685 to 29213604; 20301685
Neurodegenerative disorders - adult onset v1.81 ATP1A3 Louise Daugherty Publications for gene ATP1A3 were changed from 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232 to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15260953; 22842232
Neurodegenerative disorders - adult onset v1.81 ATP13A2 Louise Daugherty Publications for gene ATP13A2 were changed from 28137957; 27217339 to 21060012; 16964263; 27217339; 28137957
Neurodegenerative disorders - adult onset v1.81 APTX Louise Daugherty Publications for gene APTX were changed from to 14506070
Neurodegenerative disorders - adult onset v1.81 APP Louise Daugherty Publications for gene APP were changed from 22503161; 23028126 to 2111584; 23028126; 22503161
Neurodegenerative disorders - adult onset v1.81 ANO10 Louise Daugherty Publications for gene ANO10 were changed from to 25182700
Neurodegenerative disorders - adult onset v1.81 ANG Louise Daugherty Publications for gene ANG were changed from PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25372031 functional investigation of ANG variants.; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population; PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS to 16501576; 26753798; 17886298; 26255299
Neurodegenerative disorders - adult onset v1.81 ALS2 Louise Daugherty Publications for gene ALS2 were changed from 12145748; 23881933; 25474699; 24503148 to 23881933; 24503148; 25474699; 12145748; 11586298
Neurodegenerative disorders - adult onset v1.81 ABHD12 Louise Daugherty Publications for gene ABHD12 were changed from to 20797687
Neurodegenerative disorders - adult onset v1.80 SIGMAR1 Louise Daugherty Deleted their comment
Neurodegenerative disorders - adult onset v1.80 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.;PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile;PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions;PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion;PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
Neurodegenerative disorders - adult onset v1.80 PRKRA Louise Daugherty changed review comment from: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Edit your comment Delete comment
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.; to: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Neurodegenerative disorders - adult onset v1.80 PRKRA Louise Daugherty edited their review of gene: PRKRA: Changed rating: AMBER
Neurodegenerative disorders - adult onset v1.80 PRKRA Louise Daugherty changed review comment from: 18420150 - a novel heterozygous variant c.266_267delAT;25914261;26990861;22842711;24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799;25142429;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).;24142417;25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);25737287; to: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Edit your comment Delete comment
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Neurodegenerative disorders - adult onset v1.80 PRKRA Louise Daugherty commented on gene: PRKRA
Neurodegenerative disorders - adult onset v1.80 PRKRA Louise Daugherty Deleted their review
Neurodegenerative disorders - adult onset v1.80 PRKRA Louise Daugherty commented on gene: PRKRA: 18420150 - a novel heterozygous variant c.266_267delAT;25914261;26990861;22842711;24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799;25142429;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).;24142417;25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);25737287
Neurodegenerative disorders - adult onset v1.80 PINK1 Louise Daugherty Publications for gene: PINK1 were set to Parkinson disease 6, early onset
Neurodegenerative disorders - adult onset v1.79 OPTN Louise Daugherty commented on gene: OPTN: PMID: 25943890;(iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient;(ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS;PMID: 26203661;PMID: 25859013 - functional evidence;PMID: 25681989;PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS;PMID: 26503823;PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.;and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.
Neurodegenerative disorders - adult onset v1.79 OPTN Louise Daugherty Publications for gene: OPTN were set to PMID: 25943890; (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient; (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS; PMID: 26203661; PMID: 25859013 - functional evidence; PMID: 25681989; PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS; PMID: 26503823; PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.; and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.
Neurodegenerative disorders - adult onset v1.78 CHMP2B Louise Daugherty commented on gene: CHMP2B: Comment: - PMID: 20352044 conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Neurodegenerative disorders - adult onset v1.78 CHMP2B Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.; to: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.78 CHMP2B Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; to: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Neurodegenerative disorders - adult onset v1.78 CHMP2B Louise Daugherty Publications for gene: CHMP2B were set to PMID: 20352044 - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Neurodegenerative disorders - adult onset v1.77 ATXN10_CAG Louise Daugherty Classified STR: ATXN10_CAG as No list
Neurodegenerative disorders - adult onset v1.77 ATXN10_CAG Louise Daugherty Added comment: Comment on list classification: remove - error in upload
Neurodegenerative disorders - adult onset v1.77 ATXN10_CAG Louise Daugherty Str: atxn10_cag has been removed from the panel.
Neurodegenerative disorders - adult onset v1.76 ATXN1_ATTCT Louise Daugherty Classified STR: ATXN1_ATTCT as No list
Neurodegenerative disorders - adult onset v1.76 ATXN1_ATTCT Louise Daugherty Added comment: Comment on list classification: remove error in upload
Neurodegenerative disorders - adult onset v1.76 ATXN1_ATTCT Louise Daugherty Str: atxn1_attct has been removed from the panel.
Neurodegenerative disorders - adult onset v1.75 TBP_CAG Louise Daugherty edited their review of STR: TBP_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment : Median age at onset 23 years, progressive; Set current diagnostic: yes
Neurodegenerative disorders - adult onset v1.75 PPP2R2B_CAG Louise Daugherty commented on STR: PPP2R2B_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age at onset 8 to 55 years (mean 40 years)
Neurodegenerative disorders - adult onset v1.75 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Patients with longer disease duration show motor neuron involvement.
Neurodegenerative disorders - adult onset v1.75 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Mean age of onset 35-40 years.
Neurodegenerative disorders - adult onset v1.75 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Neurodegenerative disorders - adult onset v1.75 FXN_GAA Louise Daugherty edited their review of STR: FXN_GAA: Added comment: Red rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Neurodegeneration not feature of disease.; Changed rating: RED
Neurodegenerative disorders - adult onset v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty edited their review of STR: CSTB_CCCCGCCCCGCG: Changed rating: RED
Neurodegenerative disorders - adult onset v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty edited their review of STR: CSTB_CCCCGCCCCGCG: Added comment: Red rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice.; Changed rating: AMBER
Neurodegenerative disorders - adult onset v1.75 CACNA1A_CAG Louise Daugherty edited their review of STR: CACNA1A_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age of onset 20-65 years; Set current diagnostic: yes
Neurodegenerative disorders - adult onset v1.75 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Onset in adulthood, rapidly progressive
Neurodegenerative disorders - adult onset v1.75 ATXN7_CAG Louise Daugherty edited their review of STR: ATXN7_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes
Neurodegenerative disorders - adult onset v1.75 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Neurodegenerative disorders - adult onset v1.75 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Neurodegenerative disorders - adult onset v1.75 ATXN1_CAG Louise Daugherty edited their review of STR: ATXN1_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes
Neurodegenerative disorders - adult onset v1.75 ATXN10_ATTCT Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes
Neurodegenerative disorders - adult onset v1.75 ATN1_CAG Louise Daugherty commented on STR: ATN1_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Neurodegenerative disorders - adult onset v1.75 AR_CAG Louise Daugherty commented on STR: AR_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Neurodegenerative disorders - adult onset v1.75 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 ISCA-37404-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 ISCA-37478-Gain Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 ISCA-37478-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 ISCA-37404-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 ISCA-37478-Gain Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 ISCA-37478-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.75 TBP_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: TBP_CAG.
Neurodegenerative disorders - adult onset v1.75 PPP2R2B_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: PPP2R2B_CAG.
Neurodegenerative disorders - adult onset v1.75 NOP56_GGCCTG Louise Daugherty Source Yorkshire and North East GLH was added to STR: NOP56_GGCCTG.
Neurodegenerative disorders - adult onset v1.75 JPH3_CTG Louise Daugherty Source Yorkshire and North East GLH was added to STR: JPH3_CTG.
Neurodegenerative disorders - adult onset v1.75 HTT_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: HTT_CAG.
Neurodegenerative disorders - adult onset v1.75 FXN_GAA Louise Daugherty Source Yorkshire and North East GLH was added to STR: FXN_GAA.
Neurodegenerative disorders - adult onset v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty Source Yorkshire and North East GLH was added to STR: CSTB_CCCCGCCCCGCG.
Neurodegenerative disorders - adult onset v1.75 CACNA1A_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: CACNA1A_CAG.
Neurodegenerative disorders - adult onset v1.75 C9orf72_GGGGCC Louise Daugherty Source Yorkshire and North East GLH was added to STR: C9orf72_GGGGCC.
Neurodegenerative disorders - adult onset v1.75 ATXN7_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN7_CAG.
Neurodegenerative disorders - adult onset v1.75 ATXN3_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN3_CAG.
Neurodegenerative disorders - adult onset v1.75 ATXN2_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN2_CAG.
Neurodegenerative disorders - adult onset v1.75 ATXN1_ATTCT Louise Daugherty STR: ATXN1_ATTCT was added
STR: ATXN1_ATTCT was added to Neurodegenerative disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for STR: ATXN1_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_ATTCT were set to Spinocerebellar ataxia 1 164400
Neurodegenerative disorders - adult onset v1.75 ATXN10_CAG Louise Daugherty STR: ATXN10_CAG was added
STR: ATXN10_CAG was added to Neurodegenerative disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for STR: ATXN10_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_CAG were set to Spinocerebellar ataxia 10 603516
Neurodegenerative disorders - adult onset v1.75 ATN1_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATN1_CAG.
Neurodegenerative disorders - adult onset v1.75 AR_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: AR_CAG.
Neurodegenerative disorders - adult onset v1.74 ISCA-37478-Loss Louise Daugherty commented on Region: ISCA-37478-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.74 ISCA-37478-Gain Louise Daugherty commented on Region: ISCA-37478-Gain: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.74 ISCA-37468-Loss Louise Daugherty commented on Region: ISCA-37468-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.74 ISCA-37404-Loss Louise Daugherty commented on Region: ISCA-37404-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Neurodegenerative disorders - adult onset v1.74 VPS13C Louise Daugherty reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 DNAJC13 Louise Daugherty reviewed gene: DNAJC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 COQ2 Louise Daugherty reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 TUBA4A Louise Daugherty reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 TAF15 Louise Daugherty reviewed gene: TAF15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 PRPH Louise Daugherty reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 NEK1 Louise Daugherty reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MATR3 Louise Daugherty reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 HNRNPA2B1 Louise Daugherty reviewed gene: HNRNPA2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 EWSR1 Louise Daugherty reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 DAO Louise Daugherty reviewed gene: DAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 ARHGEF28 Louise Daugherty reviewed gene: ARHGEF28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 ANXA11 Louise Daugherty reviewed gene: ANXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 SS18L1 Louise Daugherty reviewed gene: SS18L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 YY1 Louise Daugherty commented on gene: YY1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 XPR1 Louise Daugherty commented on gene: XPR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 WWOX Louise Daugherty commented on gene: WWOX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 WFS1 Louise Daugherty commented on gene: WFS1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 WDR81 Louise Daugherty commented on gene: WDR81: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 WDR73 Louise Daugherty commented on gene: WDR73: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 WDR45B Louise Daugherty commented on gene: WDR45B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 WDR45 Louise Daugherty commented on gene: WDR45: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 WASHC5 Louise Daugherty commented on gene: WASHC5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VRK1 Louise Daugherty commented on gene: VRK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VPS53 Louise Daugherty reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 VPS35 Louise Daugherty commented on gene: VPS35: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VPS13D Louise Daugherty commented on gene: VPS13D: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VPS13A Louise Daugherty commented on gene: VPS13A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VLDLR Louise Daugherty commented on gene: VLDLR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VCP Louise Daugherty commented on gene: VCP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VAPB Louise Daugherty commented on gene: VAPB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 VAC14 Louise Daugherty commented on gene: VAC14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 UBQLN2 Louise Daugherty commented on gene: UBQLN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TYROBP Louise Daugherty commented on gene: TYROBP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TWNK Louise Daugherty commented on gene: TWNK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TUBB4A Louise Daugherty commented on gene: TUBB4A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TTPA Louise Daugherty commented on gene: TTPA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TTC19 Louise Daugherty commented on gene: TTC19: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TTBK2 Louise Daugherty commented on gene: TTBK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TSEN54 Louise Daugherty commented on gene: TSEN54: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TSEN2 Louise Daugherty commented on gene: TSEN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TREM2 Louise Daugherty commented on gene: TREM2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TPP1 Louise Daugherty commented on gene: TPP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TOR1A Louise Daugherty commented on gene: TOR1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TMEM240 Louise Daugherty commented on gene: TMEM240: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 THAP1 Louise Daugherty commented on gene: THAP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TH Louise Daugherty commented on gene: TH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TGM6 Louise Daugherty commented on gene: TGM6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TBP Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 TBK1 Louise Daugherty commented on gene: TBK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TARDBP Louise Daugherty commented on gene: TARDBP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 TAF1 Louise Daugherty commented on gene: TAF1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SYNJ1 Louise Daugherty commented on gene: SYNJ1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SYNE1 Louise Daugherty commented on gene: SYNE1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 STUB1 Louise Daugherty commented on gene: STUB1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SRD5A3 Louise Daugherty commented on gene: SRD5A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SQSTM1 Louise Daugherty commented on gene: SQSTM1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SPTBN2 Louise Daugherty commented on gene: SPTBN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SPR Louise Daugherty commented on gene: SPR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SPG7 Louise Daugherty commented on gene: SPG7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SPG21 Louise Daugherty commented on gene: SPG21: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SPG11 Louise Daugherty commented on gene: SPG11: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SPAST Louise Daugherty commented on gene: SPAST: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SPART Louise Daugherty commented on gene: SPART: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SOD1 Louise Daugherty commented on gene: SOD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SNX14 Louise Daugherty commented on gene: SNX14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SNCB Louise Daugherty reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 SNCA Louise Daugherty commented on gene: SNCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC9A6 Louise Daugherty commented on gene: SLC9A6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC6A5 Louise Daugherty commented on gene: SLC6A5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC6A3 Louise Daugherty commented on gene: SLC6A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC52A3 Louise Daugherty commented on gene: SLC52A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC52A2 Louise Daugherty commented on gene: SLC52A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC39A14 Louise Daugherty commented on gene: SLC39A14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC30A10 Louise Daugherty commented on gene: SLC30A10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC20A2 Louise Daugherty commented on gene: SLC20A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC1A3 Louise Daugherty commented on gene: SLC1A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SIL1 Louise Daugherty commented on gene: SIL1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SGCE Louise Daugherty commented on gene: SGCE: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SETX Louise Daugherty commented on gene: SETX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SERAC1 Louise Daugherty commented on gene: SERAC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SEPSECS Louise Daugherty commented on gene: SEPSECS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SCN8A Louise Daugherty commented on gene: SCN8A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SCN1A Louise Daugherty commented on gene: SCN1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SAR1B Louise Daugherty commented on gene: SAR1B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 SACS Louise Daugherty commented on gene: SACS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 RTN2 Louise Daugherty commented on gene: RTN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 RNF216 Louise Daugherty commented on gene: RNF216: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 RNF170 Louise Daugherty commented on gene: RNF170: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 REEP1 Louise Daugherty commented on gene: REEP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 RARS2 Louise Daugherty commented on gene: RARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 RAB39B Louise Daugherty commented on gene: RAB39B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PSEN2 Louise Daugherty commented on gene: PSEN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PRRT2 Louise Daugherty commented on gene: PRRT2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PRNP Louise Daugherty commented on gene: PRNP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PRKRA Louise Daugherty commented on gene: PRKRA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PRKN Louise Daugherty commented on gene: PRKN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PRKCG Louise Daugherty commented on gene: PRKCG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PPP2R2B Louise Daugherty reviewed gene: PPP2R2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 POLR3A Louise Daugherty commented on gene: POLR3A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 POLG Louise Daugherty commented on gene: POLG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PNKP Louise Daugherty commented on gene: PNKP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PNKD Louise Daugherty commented on gene: PNKD: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PMPCA Louise Daugherty commented on gene: PMPCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PLP1 Louise Daugherty commented on gene: PLP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PLA2G6 Louise Daugherty commented on gene: PLA2G6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PINK1 Louise Daugherty commented on gene: PINK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PFN1 Louise Daugherty commented on gene: PFN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PEX16 Louise Daugherty commented on gene: PEX16: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PDYN Louise Daugherty commented on gene: PDYN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PDGFRB Louise Daugherty commented on gene: PDGFRB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PDGFB Louise Daugherty commented on gene: PDGFB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PAX6 Louise Daugherty commented on gene: PAX6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PARK7 Louise Daugherty commented on gene: PARK7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 PANK2 Louise Daugherty commented on gene: PANK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 OPTN Louise Daugherty commented on gene: OPTN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 OPHN1 Louise Daugherty commented on gene: OPHN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 OPA3 Louise Daugherty commented on gene: OPA3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 NT5C2 Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 NR4A2 Louise Daugherty reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 NPC2 Louise Daugherty commented on gene: NPC2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 NPC1 Louise Daugherty commented on gene: NPC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 NOTCH3 Louise Daugherty commented on gene: NOTCH3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 NOP56 Louise Daugherty reviewed gene: NOP56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 NKX2-1 Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 NIPA1 Louise Daugherty commented on gene: NIPA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 NHLRC1 Louise Daugherty commented on gene: NHLRC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 NEFH Louise Daugherty commented on gene: NEFH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 NDUFA12 Louise Daugherty reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 NAGLU Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MVK Louise Daugherty commented on gene: MVK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MTTP Louise Daugherty commented on gene: MTTP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MT-ND6 Louise Daugherty reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MT-ATP6 Louise Daugherty commented on gene: MT-ATP6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MRE11 Louise Daugherty commented on gene: MRE11: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MR1 Louise Daugherty commented on gene: MR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MPV17 Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MMADHC Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MMACHC Louise Daugherty commented on gene: MMACHC: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MECR Louise Daugherty commented on gene: MECR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MCOLN1 Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MAT1A Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 MAPT Louise Daugherty commented on gene: MAPT: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 MAG Louise Daugherty commented on gene: MAG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 LYST Louise Daugherty commented on gene: LYST: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 LRRK2 Louise Daugherty commented on gene: LRRK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 L1CAM Louise Daugherty commented on gene: L1CAM: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KMT2B Louise Daugherty commented on gene: KMT2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KLC4 Louise Daugherty reviewed gene: KLC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 KIF5A Louise Daugherty commented on gene: KIF5A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KIF1A Louise Daugherty commented on gene: KIF1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KIAA1161 Louise Daugherty commented on gene: KIAA1161: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KCNQ3 Louise Daugherty commented on gene: KCNQ3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KCNQ2 Louise Daugherty commented on gene: KCNQ2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KCNK18 Louise Daugherty commented on gene: KCNK18: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KCNJ10 Louise Daugherty commented on gene: KCNJ10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KCND3 Louise Daugherty commented on gene: KCND3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KCNC3 Louise Daugherty commented on gene: KCNC3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 KCNA1 Louise Daugherty commented on gene: KCNA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 JPH3 Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 ITPR1 Louise Daugherty commented on gene: ITPR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ITM2B Louise Daugherty commented on gene: ITM2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 IPPK Louise Daugherty commented on gene: IPPK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 HTT Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 HTRA2 Louise Daugherty commented on gene: HTRA2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 HTRA1 Louise Daugherty commented on gene: HTRA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 HSPD1 Louise Daugherty commented on gene: HSPD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 HPRT1 Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 HPCA Louise Daugherty commented on gene: HPCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 HNRNPA1 Louise Daugherty commented on gene: HNRNPA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 HFE Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 HEXB Louise Daugherty commented on gene: HEXB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 HEXA Louise Daugherty commented on gene: HEXA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 HACE1 Louise Daugherty commented on gene: HACE1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GRN Louise Daugherty commented on gene: GRN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GRM1 Louise Daugherty commented on gene: GRM1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GRID2 Louise Daugherty commented on gene: GRID2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GPAA1 Louise Daugherty commented on gene: GPAA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GOSR2 Louise Daugherty commented on gene: GOSR2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GNAO1 Louise Daugherty commented on gene: GNAO1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GNAL Louise Daugherty commented on gene: GNAL: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GLRB Louise Daugherty commented on gene: GLRB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GLRA1 Louise Daugherty commented on gene: GLRA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GIGYF2 Louise Daugherty reviewed gene: GIGYF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 GFAP Louise Daugherty commented on gene: GFAP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GCDH Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 GBA2 Louise Daugherty commented on gene: GBA2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GBA Louise Daugherty commented on gene: GBA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 GAMT Louise Daugherty reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 GAD1 Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 FXN Louise Daugherty commented on gene: FXN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FUS Louise Daugherty commented on gene: FUS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FTL Louise Daugherty commented on gene: FTL: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FOXRED1 Louise Daugherty reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 FOXG1 Louise Daugherty reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 FOLR1 Louise Daugherty commented on gene: FOLR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FMR1 Louise Daugherty commented on gene: FMR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FLVCR1 Louise Daugherty commented on gene: FLVCR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FIG4 Louise Daugherty commented on gene: FIG4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FGF14 Louise Daugherty commented on gene: FGF14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FBXO7 Louise Daugherty commented on gene: FBXO7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FASTKD2 Louise Daugherty reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 FARS2 Louise Daugherty commented on gene: FARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 FA2H Louise Daugherty commented on gene: FA2H: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 EXOSC3 Louise Daugherty commented on gene: EXOSC3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 ERBB4 Louise Daugherty reviewed gene: ERBB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 EPM2A Louise Daugherty commented on gene: EPM2A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ENTPD1 Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 ELOVL5 Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 ELOVL4 Louise Daugherty commented on gene: ELOVL4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 EIF4G1 Louise Daugherty reviewed gene: EIF4G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 EIF2B5 Louise Daugherty commented on gene: EIF2B5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 EIF2B4 Louise Daugherty commented on gene: EIF2B4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 EIF2B3 Louise Daugherty commented on gene: EIF2B3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 EIF2B2 Louise Daugherty commented on gene: EIF2B2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 EIF2B1 Louise Daugherty commented on gene: EIF2B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 EARS2 Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 DYNC1H1 Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 DRD5 Louise Daugherty reviewed gene: DRD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 DRD2 Louise Daugherty commented on gene: DRD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DNMT1 Louise Daugherty commented on gene: DNMT1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DNAJC6 Louise Daugherty commented on gene: DNAJC6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DNAJC5 Louise Daugherty commented on gene: DNAJC5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DNAJC19 Louise Daugherty commented on gene: DNAJC19: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DMXL2 Louise Daugherty commented on gene: DMXL2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DLAT Louise Daugherty commented on gene: DLAT: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DDHD2 Louise Daugherty commented on gene: DDHD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DDHD1 Louise Daugherty commented on gene: DDHD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DDC Louise Daugherty commented on gene: DDC: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DCTN1 Louise Daugherty commented on gene: DCTN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DCAF17 Louise Daugherty commented on gene: DCAF17: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DARS2 Louise Daugherty commented on gene: DARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DARS Louise Daugherty commented on gene: DARS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 DAB1 Louise Daugherty commented on gene: DAB1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CWF19L1 Louise Daugherty commented on gene: CWF19L1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CSTB Louise Daugherty commented on gene: CSTB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CSF1R Louise Daugherty commented on gene: CSF1R: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CP Louise Daugherty commented on gene: CP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 COX20 Louise Daugherty commented on gene: COX20: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 COQ8A Louise Daugherty commented on gene: COQ8A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 COG5 Louise Daugherty commented on gene: COG5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 COASY Louise Daugherty commented on gene: COASY: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CLP1 Louise Daugherty commented on gene: CLP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CLN6 Louise Daugherty commented on gene: CLN6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CLCN2 Louise Daugherty commented on gene: CLCN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CIZ1 Louise Daugherty commented on gene: CIZ1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CHMP2B Louise Daugherty commented on gene: CHMP2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CHMP1A Louise Daugherty commented on gene: CHMP1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CHCHD2 Louise Daugherty commented on gene: CHCHD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CHCHD10 Louise Daugherty commented on gene: CHCHD10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CDK16 Louise Daugherty commented on gene: CDK16: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CCT5 Louise Daugherty commented on gene: CCT5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CCNF Louise Daugherty commented on gene: CCNF: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CCDC88C Louise Daugherty commented on gene: CCDC88C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CASK Louise Daugherty commented on gene: CASK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CAPN1 Louise Daugherty commented on gene: CAPN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CAMTA1 Louise Daugherty commented on gene: CAMTA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CACNB4 Louise Daugherty commented on gene: CACNB4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CACNA1G Louise Daugherty commented on gene: CACNA1G: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CACNA1A Louise Daugherty commented on gene: CACNA1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 CA8 Louise Daugherty commented on gene: CA8: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 C9orf72 Louise Daugherty commented on gene: C9orf72: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 BEAN1 Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 BCAP31 Louise Daugherty commented on gene: BCAP31: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AUH Louise Daugherty commented on gene: AUH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATXN8 Louise Daugherty commented on gene: ATXN8: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATXN7 Louise Daugherty commented on gene: ATXN7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATXN3 Louise Daugherty commented on gene: ATXN3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATXN2 Louise Daugherty commented on gene: ATXN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATXN10 Louise Daugherty commented on gene: ATXN10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATXN1 Louise Daugherty commented on gene: ATXN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATP8A2 Louise Daugherty commented on gene: ATP8A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATP7B Louise Daugherty commented on gene: ATP7B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATP6AP2 Louise Daugherty commented on gene: ATP6AP2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATP2B3 Louise Daugherty commented on gene: ATP2B3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATP1A3 Louise Daugherty commented on gene: ATP1A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATP1A2 Louise Daugherty commented on gene: ATP1A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATN1 Louise Daugherty commented on gene: ATN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATM Louise Daugherty commented on gene: ATM: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ATCAY Louise Daugherty commented on gene: ATCAY: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ARX Louise Daugherty commented on gene: ARX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ARSI Louise Daugherty commented on gene: ARSI: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ARSA Louise Daugherty commented on gene: ARSA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ARL6IP1 Louise Daugherty commented on gene: ARL6IP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AR Louise Daugherty reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders - adult onset v1.74 APTX Louise Daugherty commented on gene: APTX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 APP Louise Daugherty commented on gene: APP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AP4S1 Louise Daugherty commented on gene: AP4S1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AP4M1 Louise Daugherty commented on gene: AP4M1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AP4E1 Louise Daugherty commented on gene: AP4E1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AP4B1 Louise Daugherty commented on gene: AP4B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AP1S2 Louise Daugherty commented on gene: AP1S2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ANO3 Louise Daugherty commented on gene: ANO3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ANO10 Louise Daugherty commented on gene: ANO10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ANG Louise Daugherty commented on gene: ANG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ALS2 Louise Daugherty commented on gene: ALS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ALAS2 Louise Daugherty commented on gene: ALAS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AIMP1 Louise Daugherty commented on gene: AIMP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ADCY5 Louise Daugherty commented on gene: ADCY5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ADAR Louise Daugherty commented on gene: ADAR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ACTB Louise Daugherty commented on gene: ACTB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ABHD12 Louise Daugherty commented on gene: ABHD12: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ABCD1 Louise Daugherty commented on gene: ABCD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 ABCB7 Louise Daugherty commented on gene: ABCB7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AARS Louise Daugherty commented on gene: AARS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.74 AAAS Louise Daugherty commented on gene: AAAS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders - adult onset v1.73 VPS13C Louise Daugherty Phenotypes for gene: VPS13C were changed from 616840; Parkinson disease 23, autosomal recessive, early onset to Parkinson disease 23, autosomal recessive, early onset; 616840
Neurodegenerative disorders - adult onset v1.72 VPS13C Nick Beauchamp reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: 26942284, 28862745, 28137300; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 DNAJC13 Nick Beauchamp reviewed gene: DNAJC13: Rating: AMBER; Mode of pathogenicity: ; Publications: 24218364, 30537300, 25186792; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 COQ2 Nick Beauchamp reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23758206; Phenotypes: Multiple system atrophy, susceptibility to,146500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 TUBA4A Nick Beauchamp reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: 25374358, 25893256, 28069311; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 TAF15 Nick Beauchamp reviewed gene: TAF15: Rating: GREEN; Mode of pathogenicity: ; Publications: 22065782, 26601740; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PRPH Nick Beauchamp reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: 15446584, 25299611, 15322088; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 170710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 NEK1 Nick Beauchamp reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26945885, 30093141, 29650794; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 24, 617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 MATR3 Nick Beauchamp reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 28029397, 26493020, 25771394; Phenotypes: Amyotrophic lateral sclerosis 21; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 HNRNPA2B1 Nick Beauchamp reviewed gene: HNRNPA2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23455423, 27773581, 25299611; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 EWSR1 Nick Beauchamp reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22454397, 29170628; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 DAO Nick Beauchamp reviewed gene: DAO: Rating: GREEN; Mode of pathogenicity: ; Publications: 20368421, 29194436; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 ARHGEF28 Nick Beauchamp reviewed gene: ARHGEF28: Rating: AMBER; Mode of pathogenicity: ; Publications: 28709720, 27154192, 23286752, 24712971; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 ANXA11 Nick Beauchamp reviewed gene: ANXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: 28469040, 29845112, 30337194; Phenotypes: Amytrophic lateral sclerosis 23, 617839; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SS18L1 Nick Beauchamp reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708140, 24360741; Phenotypes: Amyotrophic lateral sclerosis, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 ZFYVE26 Nick Beauchamp reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 YY1 Nick Beauchamp reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 XPR1 Nick Beauchamp reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25938945, 26231937; Phenotypes: Basal ganglia calcification, idiopathic, 6, 605237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 WWOX Nick Beauchamp reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 12, 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 WFS1 Nick Beauchamp reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 WDR81 Nick Beauchamp reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 WDR73 Nick Beauchamp reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 WDR45 Nick Beauchamp reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176820, 23435086; Phenotypes: Dystonia, beta-propeller protein-associated neurodegeneration; 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
Neurodegenerative disorders - adult onset v1.72 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 VRK1 Nick Beauchamp reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, 607596, Amyotrophic lateral sclerosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 VPS53 Nick Beauchamp reviewed gene: VPS53: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2E, 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 VPS35 Nick Beauchamp reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: 18342564, 21763482; Phenotypes: Parkinson disease 17, 614203, Parkinson Disease, Dominant, late onset parkinson disease, PARKINSON DISEASE 17, PARK17; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 VPS13D Nick Beauchamp reviewed gene: VPS13D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 VPS13A Nick Beauchamp reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: complex parkinsonism, Complex parkinsonism, 200150, Choreoacanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 VLDLR Nick Beauchamp reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 VCP Nick Beauchamp reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: 21145000, 23498975; Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954, familial amyotrophic lateral sclerosis (ALS14), Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 VAPB Nick Beauchamp reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15372378, 18555774; Phenotypes: Amyotrophic lateral sclerosis 8, 608627, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 VAMP1 Nick Beauchamp reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 VAC14 Nick Beauchamp reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset, 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 UBQLN2 Nick Beauchamp reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21857683, 23541532; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; 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
Neurodegenerative disorders - adult onset v1.72 TYROBP Nick Beauchamp reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10888890, 12370476; Phenotypes: Dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 TWNK Nick Beauchamp reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19513767; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 TUBB4A Nick Beauchamp reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25374358; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 TTPA Nick Beauchamp reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 TTC19 Nick Beauchamp reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: 23532514, 21278747; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 TTBK2 Nick Beauchamp reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 TSEN54 Nick Beauchamp reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 TSEN2 Nick Beauchamp reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 TREM2 Nick Beauchamp reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15883308, 23318515; Phenotypes: Dementia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 TPP1 Nick Beauchamp reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 TOR1A Nick Beauchamp reviewed gene: TOR1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: primary torsion dystonia (DYT1), early-onset isolated dystonia, Dystonia-1, torsion, 128100, Autosomal dominant or sporadic dystonia (DYT1), Early-Onset Primary Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 TMEM240 Nick Beauchamp reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: 18418688, 25070513; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 THAP1 Nick Beauchamp reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Dystonia 6, torsion, 602629, DYT6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 TH Nick Beauchamp reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Segawa syndrome, DOPA-responsive dystonia, infantile parkinsonism, Segawa syndrome, recessive, 605407, paediatric form of dopa responsive dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 TGM6 Nick Beauchamp reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35, 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 TBP Nick Beauchamp reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 17, 607136, Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600, {Parkinson disease, susceptibility to}, 168600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 TBK1 Nick Beauchamp reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25700176; Phenotypes: FTLD, ALS, fronto-temporal dementia, Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 TARDBP Nick Beauchamp reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 19379745, 18372902; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal Dementia, Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 TAF1 Nick Beauchamp reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11714101, 17273961; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation), Dystonia-Parkinsonism, X-linked, 314250; 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
Neurodegenerative disorders - adult onset v1.72 SYNJ1 Nick Beauchamp reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23804563, 23804577; Phenotypes: Parkinson disease 20, early-onset, 615530, Early Onset Complex Disease, juvenile Parkinsonism, Parkinson disease 20, early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SYNE1 Nick Beauchamp reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27197992, 25681989, 27086870; Phenotypes: Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 STUB1 Nick Beauchamp reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30381368, 25592071; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16, 615768; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SRD5A3 Nick Beauchamp reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SQSTM1 Nick Beauchamp reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22084127, 22972638; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437; Mode of inheritance: ; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SPTBN2 Nick Beauchamp reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, Spinocerebellar Ataxia, Dominant, Spinocerebellar ataxia, autosomal recessive 14, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), Spinocerebellar ataxia 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SPR Nick Beauchamp reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, 607259, complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: 14564668, 28752238, 24451228; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 18067136, 22554690; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SPAST Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: 16240363, 25700176; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SPART Nick Beauchamp reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Troyer syndrome, 275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SOD1 Nick Beauchamp reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24501761, 25439728; Phenotypes: Amyotrophic lateral sclerosis 1, 105400, amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SNX14 Nick Beauchamp reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia (#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SNCB Nick Beauchamp reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: ; Publications: 15365127, 21045828; Phenotypes: Dementia, Lewy body, 127750; Mode of inheritance: Unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SNCA Nick Beauchamp reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4), Parkinson disease 4, 605543, Parkinson disease 1, 168601, Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SLC9A6 Nick Beauchamp reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.72 SLC6A5 Nick Beauchamp reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SLC6A3 Nick Beauchamp reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21777827, 19478460; Phenotypes: Parkinsonism-dystonia, infantile, 613135, {Nicotine dependence, protection against}, 188890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SLC52A3 Nick Beauchamp reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 SLC52A2 Nick Beauchamp reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SLC39A14 Nick Beauchamp reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: ; Publications: 27231142; Phenotypes: Hypermanganesemia with dystonia 2, 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SLC30A10 Nick Beauchamp reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 22341971, 30272946; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SLC2A1 Nick Beauchamp reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SLC25A46 Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SLC20A2 Nick Beauchamp reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24135862, 24065723; Phenotypes: Basal ganglia calcification, idiopathic, 1, 158378; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SLC1A4 Nick Beauchamp reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SLC1A3 Nick Beauchamp reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPISODIC ATAXIA, TYPE 6, Episodic ataxia, type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 SLC16A2 Nick Beauchamp reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.72 SIL1 Nick Beauchamp reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SIGMAR1 Nick Beauchamp reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21842496, 27821430, 21031579; Phenotypes: Amyotrophic lateral sclerosis 16, juvenile, 614373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SGCE Nick Beauchamp reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: 23332219, 22626943; Phenotypes: Myoclonus dystonia syndrome, Myoclonus-Dystonia, maternally imprinted Dystonia-11, myoclonic, 159900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Neurodegenerative disorders - adult onset v1.72 SETX Nick Beauchamp reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: 15106121, 21438761; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433, ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia, Ataxia-ocular apraxia-2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 SERAC1 Nick Beauchamp reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SEPSECS Nick Beauchamp reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D (613811); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SCN8A Nick Beauchamp reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Cognitive impairment with or without cerebellar ataxia, 614306, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 SCN1A Nick Beauchamp reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: several epilepsy, convulsion and migraine disorders., familial hemiplegic migraine 3, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 SAR1B Nick Beauchamp reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 SACS Nick Beauchamp reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 RNF216 Nick Beauchamp reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: 11932290, 23656588; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 RNF170 Nick Beauchamp reviewed gene: RNF170: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, sensory, 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 RARS2 Nick Beauchamp reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 RAB39B Nick Beauchamp reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434005, 26399558, 28851564; Phenotypes: early-onset parkinsonism and intellectual disability, ?Waisman 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
Neurodegenerative disorders - adult onset v1.72 PSEN2 Nick Beauchamp reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7638622, 12925374; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PSEN1 Nick Beauchamp reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7596406, 16033913; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PRRT2 Nick Beauchamp reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 PRNP Nick Beauchamp reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10953183, 16831973; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PRKRA Nick Beauchamp reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 18243799; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PRKN Nick Beauchamp reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9560156, 12056932; Phenotypes: Parkinson disease, juvenile, type 2, Dystonia, Parkinson Disease 2, Autosomal Recessive Juvenile, juvenile parkinsonism/dystonia, Parkinson Disease, Juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PRKCG Nick Beauchamp reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603387, 12644968; Phenotypes: Spinocerebellar ataxia 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PPP2R2B Nick Beauchamp reviewed gene: PPP2R2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia12,604326; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 POLR3A Nick Beauchamp reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal Recessive Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 POLG Nick Beauchamp reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 PNPLA6 Nick Beauchamp reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29749493, 18313024, 24355708; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PNKP Nick Beauchamp reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with oculomotor apraxia 4 (#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 PNKD Nick Beauchamp reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paroxysmal Nonkinesigenic Dyskinesia, PAROXYSMAL NONKINESIGENIC DYSKINESIA 1, Paroxysmal nonkinesigenic dyskinesia, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 PMPCA Nick Beauchamp reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 PLP1 Nick Beauchamp reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.72 PLA2G6 Nick Beauchamp reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: 18799783, 16783378; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PINK1 Nick Beauchamp reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15087508, 15349870; Phenotypes: Parkinson disease 6, early onset, 605909, Dystonia, Parkinson Disease 6, Autosomal Recessive Early-Onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PFN1 Nick Beauchamp reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22801503, 24920614; Phenotypes: Amyotrophic lateral sclerosis 18, 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PEX16 Nick Beauchamp reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 PDYN Nick Beauchamp reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21035104, 15306549; Phenotypes: Spinocerebellar ataxia 23; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PDGFRB Nick Beauchamp reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065723, 24796542; Phenotypes: Basal ganglia calcification, idiopathic, 4, 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 PDGFB Nick Beauchamp reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23913003, 29955172; Phenotypes: Basal ganglia calcification, idiopathic, 5 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 PAX6 Nick Beauchamp reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, Cerebellar Ataxia, And Mental Retardation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 PARK7 Nick Beauchamp reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 11462174, 12446870; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 PANK2 Nick Beauchamp reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11479594, 15911822; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 OPTN Nick Beauchamp reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20428114, 23889540; Phenotypes: Glaucoma 1, open angle, E, 137760, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 OPHN1 Nick Beauchamp reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.72 OPA3 Nick Beauchamp reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 NR4A2 Nick Beauchamp reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16532445, 12496759, 19429166, 28385514; Phenotypes: Parkinson Disease, Dominant/Recessive (susceptibility to); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 NPC2 Nick Beauchamp reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Niemann-Pick disease type C2 (#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 NPC1 Nick Beauchamp reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease types C1 and D (#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 NOTCH3 Nick Beauchamp reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 NOP56 Nick Beauchamp reviewed gene: NOP56: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia36,614153; Mode of inheritance: Other - please specifiy in evaluation comments
Neurodegenerative disorders - adult onset v1.72 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 NKX2-1 Nick Beauchamp reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chorea, hereditary benign 118700, Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 NHLRC1 Nick Beauchamp reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 NEFH Nick Beauchamp reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptibility to amyotrophic lateral sclerosis (ALS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 NDUFA12 Nick Beauchamp reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome due to mitochondrial complex 1 deficiency 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 NAGLU Nick Beauchamp reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensory neuropathy turning into a mild sensory ataxia (AD), Sanfilippo syndrome B (AR) (OMIM #252920); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MVK Nick Beauchamp reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MTTP Nick Beauchamp reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 4,, Ataxia, spastic, 4, Spastic ataxia 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MT-ND6 Nick Beauchamp reviewed gene: MT-ND6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber Optic Atrophy And Dystonia; Mode of inheritance: MITOCHONDRIAL
Neurodegenerative disorders - adult onset v1.72 MT-ATP6 Nick Beauchamp reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Ataxia, and Retinitis Pigmentosa; Mode of inheritance: MITOCHONDRIAL
Neurodegenerative disorders - adult onset v1.72 MRE11 Nick Beauchamp reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder, Ataxia-Telangiectasia-Like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MR1 Nick Beauchamp reviewed gene: MR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Paroxysmal/Episodic dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 MPV17 Nick Beauchamp reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 MMADHC Nick Beauchamp reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Methylmalonic aciduria, cblD type, variant 2, 277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MMACHC Nick Beauchamp reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MECR Nick Beauchamp reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MCOLN1 Nick Beauchamp reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MAT1A Nick Beauchamp reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 MARS2 Nick Beauchamp reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16672289, 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 MARS Nick Beauchamp reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 MAPT Nick Beauchamp reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9641683, 9789048; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 MAG Nick Beauchamp reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 LYST Nick Beauchamp reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 LRRK2 Nick Beauchamp reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15541308, 7898705; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 L2HGDH Nick Beauchamp reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 L1CAM Nick Beauchamp reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.72 KMT2B Nick Beauchamp reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 KIF5A Nick Beauchamp reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29566793, 29954873; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 KIF1C Nick Beauchamp reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 KIAA1161 Nick Beauchamp reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: 29910000, 30656188; Phenotypes: Autosomal Recessive Primary Familial Brain Calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.72 KCNQ3 Nick Beauchamp reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 KCNQ2 Nick Beauchamp reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 KCNK18 Nick Beauchamp reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 KCNJ10 Nick Beauchamp reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 KCND3 Nick Beauchamp reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia19,607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 KCNC3 Nick Beauchamp reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16501573; Phenotypes: Spinocerebellar ataxia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 KCNA1 Nick Beauchamp reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome,, EPISODIC ATAXIA, TYPE 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 JPH3 Nick Beauchamp reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease-like 2 606438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 ITPR1 Nick Beauchamp reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 29, Spinocerebellar ataxia 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 ITM2B Nick Beauchamp reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391242, 29525180; Phenotypes: Dementia, familial British, 176500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 IPPK Nick Beauchamp reviewed gene: IPPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 HTT Nick Beauchamp reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease 143100, Huntingtons disease (HD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 HTRA2 Nick Beauchamp reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18364387, 15961413; Phenotypes: Parkinson Disease, Dominant, Parkinson disease 13, 610297, 3-methylglutaconic aciduria, type VIII 617248; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 HTRA1 Nick Beauchamp reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19387015, 24500651; Phenotypes: CARASIL syndrome 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: 18571143, 11898127; Phenotypes: Spastic paraplegia 13, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 HPRT1 Nick Beauchamp reviewed gene: HPRT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 HPCA Nick Beauchamp reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 HNRNPA1 Nick Beauchamp reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23455423; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 HFE Nick Beauchamp reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: 17828789; Phenotypes: ; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 HEXB Nick Beauchamp reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24263030, 20798201; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 HEXA Nick Beauchamp reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28739864, 27033294; Phenotypes: GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 HACE1 Nick Beauchamp reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GRN Nick Beauchamp reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 GRM1 Nick Beauchamp reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GRID2 Nick Beauchamp reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GPAA1 Nick Beauchamp reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GOSR2 Nick Beauchamp reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GNAO1 Nick Beauchamp reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with involuntary movements, 617493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 GNAL Nick Beauchamp reviewed gene: GNAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: adult-onset cranio-cervical dystonia, Dystonia 25, 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 GLRB Nick Beauchamp reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GLRA1 Nick Beauchamp reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia, hereditary 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GIGYF2 Nick Beauchamp reviewed gene: GIGYF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18358451, 26134514, 20178831; Phenotypes: {Parkinson disease 11}, Susceptibility to Parkinson disease 11, 607688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 GFAP Nick Beauchamp reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26023202, 29095329; Phenotypes: Autosomal Dominant Ataxia, Alexander disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 GCH1 Nick Beauchamp reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25497597, 24993959; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 GCDH Nick Beauchamp reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 23884036, 26316201; Phenotypes: Glutaricaciduria, type I, 231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 GBA Nick Beauchamp reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 15525722, 17620502; Phenotypes: {Parkinson disease, late-onset, susceptibility to}, 168600, Gaucher disease, type I, 230800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 GAMT Nick Beauchamp reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, 612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 GAD1 Nick Beauchamp reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebralpalsy,spasticquadriplegic,1, 603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 FXN Nick Beauchamp reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreichataxia,229300Friedreichataxiawithretainedreflexes, 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 FUS Nick Beauchamp reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19251627, 19251628; Phenotypes: Dementia, Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 FTL Nick Beauchamp reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 FOXRED1 Nick Beauchamp reviewed gene: FOXRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 FOXG1 Nick Beauchamp reviewed gene: FOXG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rett syndrome, congenital variant, 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 FOLR1 Nick Beauchamp reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: 11438811, 12746423; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 FMR1 Nick Beauchamp reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: ; Publications: 28176767; Phenotypes: FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI), males with a tremor phenotype, FragileXtremor/ataxiasyndrome,300623; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.72 FLVCR1 Nick Beauchamp reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 FIG4 Nick Beauchamp reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 19118816, 23888880; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 FGF14 Nick Beauchamp reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 16211615; Phenotypes: Spinocerebellar ataxia 27; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 FBXO7 Nick Beauchamp reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513678, 19038853; Phenotypes: Parkinson Disease, Recessive, Dystonia, juvenile parkinsonism, parkinsonian-pyramidal syndrome, Parkinson disease 15, autosomal recessive, 260300, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 FASTKD2 Nick Beauchamp reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 FARS2 Nick Beauchamp reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 EXOSC3 Nick Beauchamp reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 ERCC6 Nick Beauchamp reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: 18185538; Phenotypes: Cockayne syndrome, type B, 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 ERBB4 Nick Beauchamp reviewed gene: ERBB4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24119685; Phenotypes: Amyotrophic lateral sclerosis 19, 615515; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 EPM2A Nick Beauchamp reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 ENTPD1 Nick Beauchamp reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia64, 615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 ELOVL5 Nick Beauchamp reviewed gene: ELOVL5: Rating: RED; Mode of pathogenicity: ; Publications: 25065913; Phenotypes: Spinocerebellar ataxia 36, 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 ELOVL4 Nick Beauchamp reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 5048218, 24566826; Phenotypes: Spinocerebellar ataxia 34 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 EIF4G1 Nick Beauchamp reviewed gene: EIF4G1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21907011; Phenotypes: Parkinsons disease 18, 614251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 EIF2B5 Nick Beauchamp reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 EIF2B4 Nick Beauchamp reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 EIF2B3 Nick Beauchamp reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 EIF2B2 Nick Beauchamp reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 EIF2B1 Nick Beauchamp reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 EARS2 Nick Beauchamp reviewed gene: EARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DYNC1H1 Nick Beauchamp reviewed gene: DYNC1H1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth, SMA, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 DSTYK Nick Beauchamp reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DRD5 Nick Beauchamp reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Blepharospasm, primary benign}, 606798; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 DRD2 Nick Beauchamp reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, myoclonic, 159900; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 DNMT1 Nick Beauchamp reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22328086, 8747854; Phenotypes: Dementia, Deafness, and Sensory Neuropathy, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 DNAJC6 Nick Beauchamp reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22563501, 23211418; Phenotypes: Parkinson disease 19b, early-onset, Parkinson disease 19, juvenile-onset, 615528, Parkinson disease 19a, juvenile-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 DNAJC5 Nick Beauchamp reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22073189, 26610600; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 DNAJC19 Nick Beauchamp reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V 610198, dilated cardiomyopathy with ataxia (DCMA) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DMXL2 Nick Beauchamp reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensorineural Hearing Loss, 612186; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 DLAT Nick Beauchamp reviewed gene: DLAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DDHD2 Nick Beauchamp reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DDC Nick Beauchamp reviewed gene: DDC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DCTN1 Nick Beauchamp reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20437543, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 DCAF17 Nick Beauchamp reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Woodhouse-Sakati syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DARS2 Nick Beauchamp reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19592391; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 DARS Nick Beauchamp reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 DAB1 Nick Beauchamp reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 37, 615945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CYP27A1 Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CWF19L1 Nick Beauchamp reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CSTB Nick Beauchamp reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A, 254800, Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800, microcephaly and severe dyskinesia, 26843564; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CSF1R Nick Beauchamp reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 22197934, 23038421; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CP Nick Beauchamp reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: 7708681, 3574673; Phenotypes: Dystonia, Aceruloplasminemia, Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 COX20 Nick Beauchamp reviewed gene: COX20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 COQ8A Nick Beauchamp reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24048965, 29915382; Phenotypes: Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 COG5 Nick Beauchamp reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iii, 613612; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 COASY Nick Beauchamp reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: 28489334, 24360804; Phenotypes: COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CLP1 Nick Beauchamp reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 10 (#615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CLN6 Nick Beauchamp reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 26115733, 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CLCN2 Nick Beauchamp reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23707145; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CIZ1 Nick Beauchamp reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 CHMP2B Nick Beauchamp reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16041373, 17956895; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CHMP1A Nick Beauchamp reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CHCHD2 Nick Beauchamp reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26705026, 25662902; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CHCHD10 Nick Beauchamp reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 24934289, 25576308, 25113787, 27810918; Phenotypes: ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.72 CCT5 Nick Beauchamp reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, Sensory Neuropathy with Spastic Paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CCNF Nick Beauchamp reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontotemporal dementia / amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 CCDC88C Nick Beauchamp reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30398676, 25062847; Phenotypes: autosomal dominant spinocerebellar ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CASK Nick Beauchamp reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders - adult onset v1.72 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 CAMTA1 Nick Beauchamp reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellarataxia, nonprogressive, with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 CACNB4 Nick Beauchamp reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 CACNA1G Nick Beauchamp reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 26456284, 26715324; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 CACNA1A Nick Beauchamp reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: episodic ataxia type 2 (EA2),108500, familial hemiplegic migraine type 1, 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Dystonia, Spinocerebellar ataxia 6, Episodic ataxia, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 CA8 Nick Beauchamp reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 C9orf72 Nick Beauchamp reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23278385; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 BEAN1 Nick Beauchamp reviewed gene: BEAN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 31, 117210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 BCAP31 Nick Beauchamp reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, dystonia and cerebellar hypomyelination, 300475; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 AUH Nick Beauchamp reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20855850; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 ATXN8 Nick Beauchamp reviewed gene: ATXN8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 8, 608768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders - adult onset v1.72 ATXN7 Nick Beauchamp reviewed gene: ATXN7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia7,164500; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 ATXN3 Nick Beauchamp reviewed gene: ATXN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: familial parkinsonism, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 ATXN2 Nick Beauchamp reviewed gene: ATXN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders - adult onset v1.72 ATXN10 Nick Beauchamp reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia10, 603516; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 ATXN1 Nick Beauchamp reviewed gene: ATXN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia1, 164400; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 ATP8A2 Nick Beauchamp reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders - adult onset v1.72 ATP7B Nick Beauchamp reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29213604; Phenotypes: Wilson disease 277900, Dystonia, Wilson Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Neurodegenerative disorders - adult onset v1.72 ATP6AP2 Nick Beauchamp reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Parkinsonism with spasticity, X-linked 300911, Mental retardation, X-linked, syndromic, Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders - adult onset v1.72 ATP2B3 Nick Beauchamp reviewed gene: ATP2B3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, X-linked 1; Mode of inheritance: Unknown
Neurodegenerative disorders - adult onset v1.72 ATP1A3 Nick Beauchamp reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15260953; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
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