Hypertrophic cardiomyopathy
Gene: SLC25A3
Mitochondrial phosphate carrier deficiency (610773)Created: 25 Mar 2019, 4:30 p.m.
AR mitochondrial gene with a key feature of HCM but very severe and infantile presentation.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Comment when marking as ready: This gene causes an early onset, syndromic presentation that phenotypically is out of scope for this panel. Therefore demoted to red. Recruits to the HCM category who have an age of onset <18yrs will be offered other metabolic panels in addition, to capture these syndromic presentations.Created: 18 Dec 2017, 11:06 a.m.
Comment on list classification: This gene causes an early onset, syndromic presentation that phenotypically is out of scope for this panel. Therefore demoted to red. Recruits to the HCM category who have an age of onset <18yrs will be offered other metabolic panels in addition, to capture these syndromic presentations.Created: 18 Dec 2017, 11:06 a.m.
Absolutely inappropriate for an adult/teen-onset HCM panel. Only reported cases are of congenital mitochondrial disease with early-onset myotonia, hypotonia, cardiomyopathy etc.
Does not fit in an adult HCM panel.
Re: GeL review from Sarah Leigh; Dr Arianna Tucci is a neurologist, cannot see that this expertise is relevant for adult cardiomyopathy (?possibly more relevant as part of a broader metabolic disorder panel, but not for non-syndromic adult cardiomyopathy?)Created: 21 Nov 2017, 3:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 21 Mar 2017, 1:56 p.m.
Source South West GLH was added to SLC25A3. Mode of inheritance for gene SLC25A3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SLC25A3 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773
This gene has been classified as Green List (High Evidence).
SLC25A3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list