Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: COA7

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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)

Green List (high evidence)

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 list
Created: 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
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Tags
Q2_21_rating
OMIM
615623
Clinvar variants
Variants in COA7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: COA7.

13 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COA7 were set to 29718187; 27683825

13 Apr 2021, Gel status: 0

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

12 Sep 2020, Gel status: 0

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