Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: AIFM1EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 15 panels
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300169
- Clinvar variants
- Variants in AIFM1
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Monogenic hearing loss
- White matter disorders and cerebral calcification - narrow panel
- Fetal anomalies
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)AIFM1 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)AIFM1 was created by Sarah Leigh