Incidentalome

Gene: ANG

Green List (high evidence)

At least 9 individuals from 9 unrelated families are known to carry pathogenic loss of function mutations for familial ALS.

In vitro functional assay using HUVEC tube formation on fibrin gel showed that mutations in ANG lead to a loss of function in tube formation and a complete loss of their angiogenic activities (PMID:17886298).

Created: 29 Mar 2023, 12:50 a.m. | Last Modified: 29 Mar 2023, 12:50 a.m.

Panel Version: 0.223

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic Lateral Sclerosis (MONDO: 0012753; MIM#611895)

Publications

• 17886298
• 16501576
• 18087731
• 20301623

Red List (low evidence)

Comment on list classification: Not a prominent ALS-FTD phenotype

Created: 6 Feb 2020, 8:54 a.m. | Last Modified: 6 Feb 2020, 8:54 a.m.

Panel Version: 0.18

Only one report of dementia in one case in a large familial ALS pedigree. Dementia or cognitive decline is not a prominent feature of the condition.

Created: 5 Feb 2020, 6:27 a.m. | Last Modified: 5 Feb 2020, 6:27 a.m.

Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis 9 MIM#611895

Publications

• 19153377