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Early-onset Dementia

Gene: FIG4

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Comment on list classification: ALS-FTD not a prominent phenotype
Created: 6 Feb 2020, 9:01 a.m. | Last Modified: 6 Feb 2020, 9:01 a.m.
Panel Version: 0.20
A single case identified with a missense VUS out of 54 patients diagnosed with ALS-FTD. An absence of dementia was noted in 11 cases diagnosed with ALS/PLS that were heterozygous for FIG4 variants. There is limited evidence that dementia or cognitive decline are prominent features of this condition.
Created: 6 Feb 2020, 3:25 a.m. | Last Modified: 6 Feb 2020, 3:25 a.m.
Panel Version: 0.2

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 11 MIM#612577; Charcot-Marie-Tooth disease, type 4J MIM#611228

Publications

Created: 6 Feb 2020, 3:25 a.m.
Last Modified: 6 Feb 2020, 3:25 a.m.
Panel version: 0.2

History Filter Activity

21 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fig4 has been classified as Red List (Low Evidence).

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fig4 has been classified as Red List (Low 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 Early-onset Dementia_MGHA_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