Incidentalome

Gene: FIG4

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

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

• 19118816
• 20301623

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

• 28889094
• 19118816