Hearing lossGene: AIFM1
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
Deafness, X-linked 5, 300614
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
Deafness, X-linked 5, MIM#300614
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