Hypertrophic cardiomyopathy
Gene: SLC25A3EnsemblGeneIds (GRCh38): ENSG00000075415
EnsemblGeneIds (GRCh37): ENSG00000075415
OMIM: 600370, Gene2Phenotype
SLC25A3 is in 6 panels
5 reviews
Rebecca Whittington (South West GLH)
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
Helen Brittain (Genomics England Curator)
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.
Ian Berry (Leeds Genetics Laboratory)
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
Sarah Leigh (Genomics England Curator)
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.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- South West GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- Mitochondrial phosphate carrier deficiency, 610773
- OMIM
- 600370
- Clinvar variants
- Variants in SLC25A3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to SLC25A3. Mode of inheritance for gene SLC25A3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC25A3 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SLC25A3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list