Hereditary Neuropathy - complex
Gene: AIFM1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Phenotypes
Combined oxidative phosphorylation deficiency 6; Cowchock syndrome

Publications

Created: 30 Mar 2020, 9:28 a.m.
Last Modified: 30 Mar 2020, 9:28 a.m.
Panel version: 0.20

Details

Mode of Inheritance

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

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Combined oxidative phosphorylation deficiency 6
Cowchock syndrome
HMSN

OMIM

300169

Clinvar variants

Variants in AIFM1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Mar 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).

30 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AIFM1 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AIFM1 was added gene: AIFM1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; HMSN

Hereditary Neuropathy - complex Gene: AIFM1