Incidentalome
Gene: FIG4Comment 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
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
Comment on list classification: ALS-FTD not a prominent phenotypeCreated: 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
Gene: fig4 has been removed from the panel.
Gene: fig4 has been removed from the panel.
Tag review tag was added to gene: FIG4.
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