Amyotrophic lateral sclerosis/motor neuron disease

Gene: FIG4

Green List (high evidence)

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 14 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene is on the NHNN ALS/MND NGS panel and there are multiple cases reported in OMIM from the same report - PMID: 19118816.
Created: 13 Jun 2016, 10:49 a.m.
This gene is on the ALS/MND NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 13 Jun 2016, 9:10 a.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyotrophic Lateral Sclerosis, Dominant
  • Charcot-Marie-Tooth disease, type 4J, 611228
OMIM
609390
Clinvar variants
Variants in FIG4
Penetrance
Complete
Publications
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

15 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

15 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 Jun 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).

13 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FIG4 were set to PMID: 19118816

13 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FIG4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FIG4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FIG4 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)

FIG4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen