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Hereditary neuropathy NOT PMP22 copy number

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

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

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

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.

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

Green List (high evidence)

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)

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

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

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