Hereditary neuropathy
Gene: AIFM1
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
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.
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.
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
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
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
Added phenotypes Cowchock syndrome; Combined oxidative phosphorylation deficiency 6 for gene: AIFM1 Publications for gene AIFM1 were changed from to 3856385
Source South West GLH was added to AIFM1.
Source NHS GMS was added to AIFM1.
Source London North GLH was added to AIFM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome
This gene has been classified as Green List (High Evidence).
AIFM1 was created by MReilly-925
AIFM1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review