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  2. Dystonia, chorea or related movement disorder, adult onset
  3. AIFM1
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Dystonia, chorea or related movement disorder, adult onset

Gene: AIFM1

Red List (low evidence)
AIFM1 (apoptosis inducing factor mitochondria associated 1)
EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.50

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Combined oxidative phosphorylation deficiency 6 300816

Publications

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AIFM1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to AIFM1.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: AIFM1 was added gene: AIFM1 was added to Adult onset movement disorder. Sources: Expert Review Red 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 20362274 Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 300816