Hereditary neuropathy
Gene: COA7EnsemblGeneIds (GRCh38): ENSG00000162377
EnsemblGeneIds (GRCh37): ENSG00000162377
OMIM: 615623, Gene2Phenotype
COA7 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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.
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
-
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to COA7. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: COA7 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: COA7 were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: COA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to COA7.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: COA7 was added gene: COA7 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: COA7 was set to