Hereditary neuropathy or pain disorder
Gene: AIFM1Keeping as Green on this panel to ensure cases are not missed as neuropathy can be a prominent presenting feature and it is plausible that this panel may be applied.Created: 6 Oct 2021, 12:48 p.m. | Last Modified: 6 Oct 2021, 12:48 p.m.
Panel Version: 1.63
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 Combined oxidative phosphorylation deficiency 6; Cowchock syndrome to Cowchock syndrome, OMIM:310490; Combined oxidative phosphorylation deficiency 6, OMIM:300816
gene: AIFM1 was added gene: AIFM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Green,Expert Review 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 3856385 Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome