Ataxia and cerebellar anomalies - narrow panel
Gene: COA7
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
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
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
Tag Q2_21_rating was removed from gene: COA7.
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)
Tag Q2_21_rating tag was added to gene: COA7.
Gene: coa7 has been classified as Amber List (Moderate Evidence).
Publications for gene: COA7 were set to 29718187; 27683825
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
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