Hereditary neuropathy
Gene: AIFM1EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 15 panels
6 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
Appears to be related to a more complex phenotype with sensory neuropathy, deafness and mental retardation. PMID: 3856385 - sensory neuropathy, deafness and mental retardationCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined oxidative phosphorylation deficiency 6; Cowchock syndrome
Publications
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is green on the mitochondrial gene version 1 panel and the intellectual disability version 1 panel. It is a probable DD gene for Cowchock syndrome and Combined oxidative phosphorylation deficiency 6, and has two green reviews.Created: 6 May 2016, 7:36 a.m.
Alexander Rossor (UCL Institute of Neurology)
Single family but good linkage and functional data. Additoinal families now reported (2019)Created: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mary Reilly (Institute of Neurology)
Single family but good linkage and functional dataCreated: 8 Dec 2015, 3:07 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Cowchock syndrome, OMIM:310490
- Combined oxidative phosphorylation deficiency 6, OMIM:300816
- OMIM
- 300169
- Clinvar variants
- Variants in AIFM1
- Penetrance
- Complete
- 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
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AIFM1 were changed from Cowchock syndrome; Combined oxidative phosphorylation deficiency 6 to Cowchock syndrome, OMIM:310490; Combined oxidative phosphorylation deficiency 6, OMIM:300816
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Cowchock syndrome; Combined oxidative phosphorylation deficiency 6 for gene: AIFM1 Publications for gene AIFM1 were changed from to 3856385
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to AIFM1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to AIFM1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London North GLH was added to AIFM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Mary Reilly (Institute of Neurology)AIFM1 was created by MReilly-925
Added New Source
Mary Reilly (Institute of Neurology)AIFM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review