Mitochondrial 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