Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 15 actions
28 Nov 2019	Neurodegenerative disorders, adult onset v1.114	CLP1	Louise Daugherty Classified gene: CLP1 as Red List (low evidence)
28 Nov 2019	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.
28 Nov 2019	Neurodegenerative disorders, adult onset v1.114	CLP1	Louise Daugherty Gene: clp1 has been classified as Red List (Low Evidence).
20 Sep 2019	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
20 Sep 2019	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)
23 Jul 2019	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.
23 Jul 2019	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
23 Jul 2019	Neurodegenerative disorders, adult onset v1.67	CLP1	Louise Daugherty Source Yorkshire and North East GLH was added to CLP1.
08 Jul 2019	Neurodegenerative disorders, adult onset v1.51	CLP1	Louise Daugherty Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia 10, 615803
08 Jul 2019	Neurodegenerative disorders, adult onset v1.50	CLP1	Louise Daugherty Publications for gene: CLP1 were set to
23 Apr 2019	Neurodegenerative disorders, adult onset v1.7	CLP1	Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
23 Apr 2019	Neurodegenerative disorders, adult onset v1.6	CLP1	Anthony Dallosso reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 10, 615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Apr 2019	Neurodegenerative disorders, adult onset v1.5	CLP1	Louise Daugherty Source NHS GMS was added to CLP1.
23 Apr 2019	Neurodegenerative disorders, adult onset v1.4	CLP1	Louise Daugherty Source South West GLH was added to CLP1.
18 Dec 2018	Neurodegenerative disorders, adult onset v0.2	CLP1	Rebecca Foulger gene: CLP1 was added gene: CLP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803)