Adult onset movement disorderGene: PTEN
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:45 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Movement disorders not listed as a phenotye for any of the syndromes associated with this gene on OMIM or G2P.
Created: 23 Apr 2019, 12:14 p.m.
Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 276950
Added phenotypes Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; VATER association with macrocephaly and ventriculomegaly, 276950; Macrocephaly/autism syndrome, 605309 for gene: PTEN
Source NHS GMS was added to PTEN.
Source South West GLH was added to PTEN.
gene: PTEN was added gene: PTEN was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PTEN was set to Phenotypes for gene: PTEN were set to Dystonia