White matter disorders and cerebral calcification - narrow panel
Gene: APOPT1
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
Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8Created: 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
Cavitating leukodystrophy reported as part of this mitochondrial disorder, onset described as late infancy/early childhood.
Sources: Expert listCreated: 15 Sep 2020, 9:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, MIM# 220110
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: APOPT1.
Source NHS GMS was added to APOPT1. Source Expert Review Green was added to APOPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag new-gene-name tag was added to gene: APOPT1.
Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Gene: apopt1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: APOPT1.
gene: APOPT1 was added gene: APOPT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APOPT1 were set to 25175347 Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM# 220110 Review for gene: APOPT1 was set to GREEN gene: APOPT1 was marked as current diagnostic