Amyotrophic lateral sclerosis/motor neuron disease
Gene: PFN1
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
Comment when marking as ready: Reduced penetrance seen with some variantsCreated: 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 penetranceCreated: 24 Nov 2016, 2:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis 18 614808
Publications
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.
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PFN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Amber List (Moderate Evidence).
PFN1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
PFN1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen