Motor Neurone Disease

Gene: AIFM1

Green List (high evidence)

- Missense reported for all conditions, and all report inheritance from unaffected mothers or de novo.
- No specific gen-phen correlation, some conditions report the same protein consequences.
- Miyake reports an exon 7 cluster for SEMDHL = likely splice defects, may affect only certain tissues resulting in the unique phenotype

Loss of function - loss of protein expression, destabilization and instability (OMIM, PMID: 28842795). No PTCs reported but pLI = 1
ClinVar: 0 PTCs, 29 missense

Created: 4 Aug 2020, 1:44 a.m. | Last Modified: 4 Aug 2020, 1:44 a.m.

Panel Version: 0.3675

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232

Publications

• PMID: 28842795

Red List (low evidence)

Comment on list classification: Motor neuron degeneration is not a prominent feature of the condition. Only one case reported.

Created: 18 Mar 2020, 5 a.m. | Last Modified: 18 Mar 2020, 5 a.m.

Panel Version: 0.11

Only one report of the phenotype including motor neuron degeneration (PMID: 26173962). On hereditary neuropathy and mitochondrial disorders gene lists.
Sources: Expert list

Created: 15 Jan 2020, 1:50 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232

Publications

• 26173962