Auditory Neuropathy
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)

More than 10 unrelated individuals reported.
Created: 2 Jan 2020, 3:28 a.m. | Last Modified: 2 Jan 2020, 3:28 a.m.

Panel Version: 0.182

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

Phenotypes
Deafness, X-linked 5, MIM# 300614

Publications

25986071

Created: 2 Jan 2020, 3:28 a.m.
Last Modified: 2 Jan 2020, 3:28 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.182

Details

Mode of Inheritance

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

Sources

Expert Review Green
Literature
Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, X-linked 5 MIM#300614
non-syndromic auditory neuropathy spectrum disorder

OMIM

300169

Clinvar variants

Variants in AIFM1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: AIFM1 were set to 21176974

13 Nov 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AIFM1 was added gene: AIFM1 was added to Auditory Neuropathy. Sources: Literature,Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 21176974 Phenotypes for gene: AIFM1 were set to Deafness, X-linked 5 MIM#300614; non-syndromic auditory neuropathy spectrum disorder

Auditory Neuropathy Gene: AIFM1