Amyotrophic lateral sclerosis/motor neuron disease
Gene: FIG4The 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
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
Mode of inheritance for gene: FIG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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).
This gene has been classified as Amber List (Moderate Evidence).
Publications for FIG4 were set to PMID: 19118816
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FIG4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FIG4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FIG4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
FIG4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen