GT/TP identifiers for the NHSE Digital Genomic Test Service are temporarily visible in PanelApp but are not yet in use in Genomics England systems

Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 9 actions
11 May 2021	Hereditary ataxia, adult onset v2.48	PMPCB	Sarah Leigh Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
27 Apr 2019	Hereditary ataxia, adult onset v1.120	PMPCB	Louise Daugherty Mode of inheritance for gene: PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Hereditary ataxia, adult onset v1.119	PMPCB	Louise Daugherty Classified gene: PMPCB as Green List (high evidence)
27 Apr 2019	Hereditary ataxia, adult onset v1.119	PMPCB	Louise Daugherty Gene: pmpcb has been classified as Green List (High Evidence).
15 Apr 2019	Hereditary ataxia, adult onset v1.9	PMPCB	Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB
15 Apr 2019	Hereditary ataxia, adult onset v1.8	PMPCB	Louise Daugherty reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
15 Apr 2019	Hereditary ataxia, adult onset v1.7	PMPCB	Tracy Lester reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Apr 2019	Hereditary ataxia, adult onset v1.2	PMPCB	Louise Daugherty Source NHS GMS was added to PMPCB.
14 Apr 2019	Hereditary ataxia, adult onset v1.1	PMPCB	Louise Daugherty gene: PMPCB was added gene: PMPCB was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PMPCB was set to