Amyotrophic lateral sclerosis/motor neuron disease

Gene: PFN1

Green List (high evidence)

PFN1 (profilin 1)
EnsemblGeneIds (GRCh38): ENSG00000108518
EnsemblGeneIds (GRCh37): ENSG00000108518
OMIM: 176610, Gene2Phenotype
PFN1 is in 2 panels

3 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Monallelic mutations cause ALS, with some variants being fully penetrant (C71G, M114T and G118V) (pmid 22801503) while others being susceptibility factors (E117G) (PMID: 24309268). Some mutations described only in sporadic cases or show possibly reduced penetrance: T109M (PMID: 23141414), R136W (23428184 ), A20T and Q139L (25499087).
Created: 18 Dec 2016, 9:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: Reduced penetrance seen with some variants
Created: 19 Dec 2016, 3:07 p.m.
Comment on list classification: Expert review green.
Created: 19 Dec 2016, 3:06 p.m.
reported in at least six individuals. Offered on Sheffield ALS panel and in one lab in Germany. Probably accounts for 1% ALS and has incomplete penetrance
Created: 24 Nov 2016, 2:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 18 614808

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Seems to be enough cases/family reports, though there has been reports on incomplete penetrance, therefore unsure whether the evidence is sufficient to include this gene as green.
Created: 3 Nov 2016, 6:59 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 18, 614808
OMIM
176610
Clinvar variants
Variants in PFN1
Penetrance
Incomplete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 19th December 2016 following external review and internal curation

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PFN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

18 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PFN1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen

18 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PFN1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen