Incidentalome

Gene: FIG4

No list

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Moved to Mendeliome. Associations with CMT and Yunis-Varon are well established whereas association with ALS/FTD is not.
Created: 15 Aug 2024, 9:12 p.m. | Last Modified: 15 Aug 2024, 9:12 p.m.
Panel Version: 0.308

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: 29 Mar 2023, 11:11 p.m. | Last Modified: 29 Mar 2023, 11:11 p.m.
Panel Version: 0.223

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

History Filter Activity

15 Aug 2024, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fig4 has been removed from the panel.

15 Aug 2024, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fig4 has been removed from the panel.

22 Aug 2023, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag review tag was added to gene: FIG4.

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 Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FIG4 was set to Unknown