Genes in panel

Hereditary neuropathy

Gene: PTEN

Amber List (moderate 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)

I don't know

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Neuropathy in multiple families if include facial palsy
Created: 6 Jun 2019, 10:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Cowden syndrome 1, 158350
  • multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to PTEN. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PTEN were changed from multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas to Cowden syndrome 1, 158350; multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas

6 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PTEN were changed from to multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas

6 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PTEN.

6 Jun 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PTEN was added gene: PTEN was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: PTEN was set to