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Hearing loss

Gene: AIFM1

No list

AIFM1 (apoptosis inducing factor mitochondria associated 1)
EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 13 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Linked to Deafness, X-linked 5 #300614 (XLR) in OMIM.

As reviewed by Zornitza Stark - PMID: 25986071 Zong et al 2015 found two missense mutations in AIFM1 in two unrelated Chinese Auditory neuropathy spectrum disorder families c.1352G>A (p.R451Q) and c.1030C>T (p.L344F). Mutation screening in a large cohort of 3 additional unrelated families and 93 sporadic cases with ANSD identified 9 more missense mutations in AIFM1.

Sufficient cases to rate green.
Created: 28 Jan 2020, 10:35 a.m. | Last Modified: 28 Jan 2020, 10:35 a.m.
Panel Version: 2.4

Phenotypes
Deafness, X-linked 5, 300614

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

More than 10 unrelated families described.
Sources: Expert list
Created: 2 Jan 2020, 3:31 a.m.

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

Phenotypes
Deafness, X-linked 5, MIM#300614

Publications

History Filter Activity

2 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AIFM1 was added gene: AIFM1 was added to Hearing loss. Sources: Expert list 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 25986071 Phenotypes for gene: AIFM1 were set to Deafness, X-linked 5, MIM#300614 Review for gene: AIFM1 was set to GREEN