1. Panels
  2. Hereditary neuropathy or pain disorder
  3. AIFM1
Genes in panel
Prev Next

Hereditary neuropathy or pain disorder

Gene: AIFM1

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

8 reviews

Arina Puzriakova (Genomics England Curator)

Keeping 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
Created: 6 Oct 2021, 12:48 p.m.
Last Modified: 6 Oct 2021, 12:48 p.m.
Panel version: 1.63

Zornitza Stark (Australian Genomics)

I don't know

Not an 'isolated' neuropathy, but neuropathy part of a complex phenotype.
Created: 30 Mar 2020, 9:25 a.m. | Last Modified: 30 Mar 2020, 9:25 a.m.
Panel Version: 1.4

Publications

Created: 30 Mar 2020, 9:25 a.m.
Last Modified: 30 Mar 2020, 9:25 a.m.
Panel version: 1.4

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Appears to be related to a more complex phenotype with sensory neuropathy, deafness and mental retardation. PMID: 3856385 - sensory neuropathy, deafness and mental retardation
Created: 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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.58

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 29 Apr 2019, 9:26 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.52

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.
Created: 6 May 2016, 7:36 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0.135

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

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

Created: 9 Dec 2015, 8:50 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Single family but good linkage and functional data
Created: 8 Dec 2015, 3:07 p.m.

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

Created: 8 Dec 2015, 3:07 p.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • South West GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Cowchock syndrome, OMIM:310490
  • Combined oxidative phosphorylation deficiency 6, OMIM:300816
OMIM
300169
Clinvar variants
Variants in AIFM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

5 Dec 2019, Gel status: 3

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 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