Hypertrophic cardiomyopathy - teen and adult

Gene: SLC25A3

Red List (low evidence)

SLC25A3 (solute carrier family 25 member 3)
EnsemblGeneIds (GRCh38): ENSG00000075415
EnsemblGeneIds (GRCh37): ENSG00000075415
OMIM: 600370, Gene2Phenotype
SLC25A3 is in 5 panels

5 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

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)

Red List (low evidence)

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)

I don't know

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

21 Feb 2019, Gel status: 1

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

18 Dec 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

21 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SLC25A3 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773

21 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A3 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list