Monogenic hearing loss
Gene: AIFM1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:19 p.m. | Last Modified: 3 Mar 2022, 1:19 p.m.
Panel Version: 2.221
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major reviewCreated: 29 Jun 2020, 12:31 p.m. | Last Modified: 29 Jun 2020, 12:31 p.m.
Panel Version: 2.20
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
More than 10 unrelated families described.
Sources: Expert listCreated: 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
Phenotypes for gene: AIFM1 were changed from Deafness, X-linked 5, MIM#300614 to Deafness, X-linked 5, OMIM:300614
Tag for-review was removed from gene: AIFM1.
Source Expert Review Green was added to AIFM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: AIFM1.
Gene: aifm1 has been classified as Amber List (Moderate Evidence).
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