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Mendeliome

Gene: AIFM1

Green List (high evidence)

AIFM1 (apoptosis inducing factor mitochondria associated 1)
EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 17 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 6, 300816
  • Cowchock syndrome, 310490
  • Deafness, X-linked 5, 300614
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
OMIM
300169
Clinvar variants
Variants in AIFM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aifm1 has been classified as Green List (High Evidence).

4 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232

4 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AIFM1 were set to

4 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AIFM1 was added gene: AIFM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AIFM1 was set to Unknown