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  3. COA7
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Hereditary neuropathy or pain disorder

Gene: COA7

Green List (high evidence)
COA7 (cytochrome c oxidase assembly factor 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000162377
EnsemblGeneIds (GRCh37): ENSG00000162377
OMIM: 615623, Gene2Phenotype
COA7 is in 11 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
COA7 variants have been associated with Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (OMIM:618387). At least seven COA7 variants have been reported in at least five unrelated cases of OMIM:618387 (PMID: 29718187; 27683825).
Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770

Publications

Created: 4 Nov 2024, 11:26 a.m.
Last Modified: 4 Nov 2024, 11:26 a.m.
Panel version: 6.148

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope - ataxia with neuropathy / Broader phenotype - SCA with axonal neuropathy
Created: 6 Dec 2019, 3:16 p.m. | Last Modified: 6 Dec 2019, 3:16 p.m.
Panel Version: 0.41
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 3:15 p.m. | Last Modified: 6 Dec 2019, 3:15 p.m.
Panel Version: 0.41
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Created: 11 Jun 2019, 1:40 p.m.

Panel version: 0.41

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Multiple additional cases now reported with peripheral neuropathy - should be green and on panle now that R78 includes complex phenotypes
Created: 20 Oct 2024, 9:22 a.m. | Last Modified: 20 Oct 2024, 9:22 a.m.
Panel Version: 5.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy.

Publications

Created: 6 Jun 2019, 10:52 a.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
OMIM
615623
Clinvar variants
Variants in COA7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: COA7. Tag Q3_24_NHS_review was removed from gene: COA7.

24 Feb 2025, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to COA7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Nov 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COA7 were changed from Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770

4 Nov 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: COA7. Tag Q3_24_NHS_review tag was added to gene: COA7.

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: coa7 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: COA7 was added gene: COA7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 2971817 Phenotypes for gene: COA7 were set to Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387