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Date	Panel	Item	Activity
Filter activities 13 actions
20 Sep 2019	Adult onset neurodegenerative disorder 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
20 Sep 2019	Adult onset neurodegenerative disorder v1.105	PMPCA	Louise Daugherty Source Expert Review Red was added to PMPCA. Rating Changed from Green List (high evidence) to Red List (low evidence)
02 Sep 2019	Adult onset neurodegenerative disorder 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.
02 Sep 2019	Adult onset neurodegenerative disorder v1.100	PMPCA	Louise Daugherty Source Wessex and West Midlands GLH was added to PMPCA.
02 Sep 2019	Adult onset neurodegenerative disorder 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
23 Jul 2019	Adult onset neurodegenerative disorder 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.
23 Jul 2019	Adult onset neurodegenerative disorder 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
23 Jul 2019	Adult onset neurodegenerative disorder v1.67	PMPCA	Louise Daugherty Source Yorkshire and North East GLH was added to PMPCA.
23 Apr 2019	Adult onset neurodegenerative disorder v1.11	PMPCA	Louise Daugherty reviewed gene: PMPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
23 Apr 2019	Adult onset neurodegenerative disorder v1.10	PMPCA	James Polke reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
23 Apr 2019	Adult onset neurodegenerative disorder v1.9	PMPCA	Louise Daugherty Source NHS GMS was added to PMPCA.
23 Apr 2019	Adult onset neurodegenerative disorder v1.8	PMPCA	Louise Daugherty Source London North GLH was added to PMPCA.
18 Dec 2018	Adult onset neurodegenerative disorder v0.2	PMPCA	Rebecca Foulger gene: PMPCA was added gene: PMPCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to PMID:25808372 Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.