Ataxia and cerebellar anomalies - narrow panel
Gene: COA7EnsemblGeneIds (GRCh38): ENSG00000162377
EnsemblGeneIds (GRCh37): ENSG00000162377
OMIM: 615623, Gene2Phenotype
COA7 is in 11 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in at least five unrelated cases.Created: 13 Apr 2021, 1:44 p.m. | Last Modified: 13 Apr 2021, 1:44 p.m.
Panel Version: 2.84
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 13 Apr 2021, 1:41 p.m. | Last Modified: 13 Apr 2021, 1:41 p.m.
Panel Version: 2.84
Zornitza Stark (Australian Genomics)
Five unrelated individuals reported with bi-allelic variants in this gene. Slowly progressive condition with variable onset, but at least three individuals presented at <5 years of age.
Sources: Expert listCreated: 12 Sep 2020, 2:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: COA7.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to COA7. Source NHS GMS was added to COA7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: COA7.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: coa7 has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: COA7 were set to 29718187; 27683825
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: COA7 was added gene: COA7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 29718187; 27683825 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387 Review for gene: COA7 was set to GREEN gene: COA7 was marked as current diagnostic