Amyotrophic lateral sclerosis/motor neuron disease

Gene: ANXA11

I don't know

The initial study identified a familial mutation in ALS with a founder effect (p.D40G), along with supportive pathological data showing aggregation of ANXA11 protein in in spinal cord motor neurons and hippocampal neuronal axons in an ALS patient carrying the p.D40G mutation. Several other patients have been identified with this mutation in China. However there is not an extensive body of further support. The gene is most likely a rare cause of familial ALS, but further evidence would be helpful. See OMIM 617839.

A D40Y mutation has also been identified in Inclusion body myopathy and brain white matter abnormalities (IBMWMA) in Brazilian families (OMIM 619733).

Created: 2 Jul 2024, 1:19 p.m. | Last Modified: 2 Jul 2024, 1:19 p.m.

Panel Version: 1.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ALS; amyotrophic lateral sclerosis; ALS 23; motor neuron disease; Inclusion body myopathy and brain white matter abnormalities (IBMWMA; MULTISYSTEM PROTEINOPATHY 6; MSP6)

Publications

• PMID: 28469040
• PMID: 30337194
• PubMed: 34048612

I don't know

gene is added to "Neurodegenerative disorders - adult onset" panel, but one of the phenotype is also ALS
Sources: Literature

Created: 17 Jun 2021, 10:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 23

Publications

• DOI: 10.1126/scitranslmed.aad9157