Adult onset neurodegenerative disorder
Gene: PFN1

PFN1 (profilin 1)
EnsemblGeneIds (GRCh38): ENSG00000108518
EnsemblGeneIds (GRCh37): ENSG00000108518
OMIM: 176610, Gene2Phenotype
PFN1 is in 3 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

The age of onset for familial ALS18 cases was 44.8 +/- 7.4 years. >3 cases
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.

Panel Version: 1.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis 18, 614808

Created: 2 Sep 2019, 4:06 p.m.
Last Modified: 2 Sep 2019, 4:06 p.m.
Panel version: 1.99

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis 18, 614808

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.

Panel Version: 1.101

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.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

Created: 23 Apr 2019, 5:35 p.m.

Panel version: 1.101

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 23 Apr 2019, 5:31 p.m.

Panel version: 1.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Wessex and West Midlands GLH
Yorkshire and North East GLH
NHS GMS
London North GLH
Expert Review Green

Phenotypes

Amyotrophic lateral sclerosis 18, OMIM:614808

OMIM

176610

Clinvar variants

Variants in PFN1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PFN1 were changed from Amyotrophic lateral sclerosis 18, 614808 to Amyotrophic lateral sclerosis 18, OMIM:614808

2 Sep 2019, Gel status: 3