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
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
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