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  2. Motor Neurone Disease
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Motor Neurone Disease

Gene: FIG4

Amber List (moderate evidence)
FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 17 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 09/08/2022
Created: 22 Jun 2023, 12:56 a.m. | Last Modified: 22 Jun 2023, 12:56 a.m.
Panel Version: 0.179
Created: 22 Jun 2023, 12:56 a.m.
Last Modified: 22 Jun 2023, 12:56 a.m.
Panel version: 0.179

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 19118816 – 5 unrelated patients found with variants causative of ALS known to have a loss-of-function mutation. Variants were either missense or splice site variants but all lead to either a significant or complete loss of protein.
Created: 17 May 2023, 6:50 a.m. | Last Modified: 17 May 2023, 6:50 a.m.
Panel Version: 0.138

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945; MIM#612577)

Publications

Created: 17 May 2023, 6:50 a.m.
Last Modified: 17 May 2023, 6:50 a.m.
Panel version: 0.138

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945
  • MIM#612577)
OMIM
609390
Clinvar variants
Variants in FIG4
Penetrance
None
Panels with this gene

History Filter Activity

22 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fig4 has been classified as Amber List (Moderate Evidence).

22 Jun 2023, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FIG4 were changed from to Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945; MIM#612577)

22 Jun 2023, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FIG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fig4 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FIG4 was added gene: FIG4 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: FIG4 was set to Unknown