Genes in panel

Adult onset movement disorder

Gene: PTEN

Red List (low evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 53 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

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.

Phenotypes
Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 276950

Details

Sources
  • Expert Review Red
Phenotypes
  • Cowden syndrome 1, 158350
  • Macrocephaly/autism syndrome, 605309
  • Lhermitte-Duclos syndrome, 158350
  • VATER association with macrocephaly and ventriculomegaly, 276950
  • Dystonia
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; VATER association with macrocephaly and ventriculomegaly, 276950; Macrocephaly/autism syndrome, 605309 for gene: PTEN

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PTEN.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PTEN.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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