Paediatric or syndromic cardiomyopathy
Gene: FASTKD2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: FASTKD2; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex IV deficiency, 220110
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Source Expert Review Amber was added to FASTKD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
gene: FASTKD2 was added gene: FASTKD2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 28499982 Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110