Deafness_Isolated
Gene: AIFM1
AIFM1 (apoptosis inducing factor mitochondria associated 1)
EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, X-linked 5, MIM# 300614
- OMIM
- 300169
- Clinvar variants
- Variants in AIFM1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Auditory Neuropathy
- Motor Neurone Disease
- Deafness_Isolated
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Callosome
History Filter Activity
3 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aifm1 has been classified as Green List (High Evidence).
21 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AIFM1 was added gene: AIFM1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services 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