Amyotrophic lateral sclerosis/motor neuron disease
Gene: FIG4

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The mode of inheritance has been changed to - BOTH monoallelic and biallelic, autosomal or pseudoautosomal as Amyotrophic lateral sclerosis 11 (OMIM:612577) is monoallelic and Charcot-Marie-Tooth disease, type 4J (OMIM:611228) and Yunis-Varon syndrome OMIM:216340 are biallelic.
Created: 17 Aug 2021, 1:25 p.m. | Last Modified: 17 Aug 2021, 1:25 p.m.

Panel Version: 1.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 17 Aug 2021, 1:25 p.m.
Last Modified: 17 Aug 2021, 1:25 p.m.
Panel version: 1.35

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

Created: 13 Jun 2016, 9:10 a.m.

Panel version: 0.45

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Amyotrophic lateral sclerosis 11 OMIM:612577
amyotrophic lateral sclerosis type 11 MONDO:0012945
Charcot-Marie-Tooth disease, type 4J, OMIM:611228
Charcot-Marie-Tooth disease type 4J MONDO:0012640
Yunis Varon syndrome OMIM:216340
Yunis-Varon syndrome MONDO:0008995

OMIM

609390

Clinvar variants

Variants in FIG4

Penetrance

Complete

Publications

PMID: 19118816

Panels with this gene

History Filter Activity

17 Aug 2021, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: FIG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FIG4 were changed from Amyotrophic Lateral Sclerosis, Dominant; Charcot-Marie-Tooth disease, type 4J, 611228 to Amyotrophic lateral sclerosis 11 OMIM:612577; amyotrophic lateral sclerosis type 11 MONDO:0012945; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J MONDO:0012640; Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995

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