White matter disorders and cerebral calcification - narrow panel

Gene: APOPT1

Green List (high evidence)

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

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8

Created: 7 Jun 2021, 11:41 a.m. | Last Modified: 7 Jun 2021, 11:41 a.m.

Panel Version: 1.148

Comment on list classification: There are sufficient cases of white matter disease from unrelated families to warrant a Green rating at the next GMS panel update.

Created: 7 Jun 2021, 11:41 a.m. | Last Modified: 7 Jun 2021, 11:41 a.m.

Panel Version: 1.147

Melchionda, et al. 2014 (PMID: 25175347) report six individuals from five families who were found to harbour different biallelic variants in this gene. All presented white matter abnormalities on brain MRI which were characterised by a cavitating leukodystrophy, predominantly involving the posterior cerebral white matter and the corpus callosum in the acute stage, after which the abnormalities partially improved and then stabilised.

Created: 7 Jun 2021, 11:38 a.m. | Last Modified: 7 Jun 2021, 11:38 a.m.

Panel Version: 1.146

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061

Publications

• 25175347

Green List (high evidence)

Cavitating leukodystrophy reported as part of this mitochondrial disorder, onset described as late infancy/early childhood.
Sources: Expert list

Created: 15 Sep 2020, 9:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, MIM# 220110

Publications

• 25175347

Variants in this GENE are reported as part of current diagnostic practice