Monogenic hearing loss
Gene: AIFM1EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 15 panels
2 reviews
Eleanor Williams (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Deafness, X-linked 5, OMIM:300614
- OMIM
- 300169
- Clinvar variants
- Variants in AIFM1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: AIFM1 were changed from Deafness, X-linked 5, MIM#300614 to Deafness, X-linked 5, OMIM:300614
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: AIFM1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to AIFM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: AIFM1.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: aifm1 has been classified as Amber List (Moderate Evidence).
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