White matter disorders and cerebral calcification - narrow panel
Gene: COA7
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
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, 1:43 p.m. | Last Modified: 13 Apr 2021, 1:43 p.m.
Panel Version: 1.35
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 13 Apr 2021, 1:42 p.m. | Last Modified: 13 Apr 2021, 1:42 p.m.
Panel Version: 1.35
At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Paediatric age of onset.
Sources: Expert listCreated: 15 Sep 2020, 10:01 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 NHS GMS was added to COA7. Source Expert Review Green 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 27683825; 29718187
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 White matter disorders and cerebral calcification - 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 27683825; 29718187 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