Congenital myaesthenic syndrome

Gene: SLC25A1

Green List (high evidence)

SLC25A1 (solute carrier family 25 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Info from Tracy Lester: SLC25A1 – there is another case of CMS associated with this genes and a couple more reported in literature – can now be green on R80.
Created: 2 Dec 2019, 11:01 a.m. | Last Modified: 2 Dec 2019, 11:01 a.m.
Panel Version: 1.75
Comment on list classification: New gene added by reviewer. Rated as Amber, awaiting more information on this gene and potential disease association.
Created: 16 Oct 2019, 12:39 p.m. | Last Modified: 16 Oct 2019, 12:39 p.m.
Panel Version: 1.57
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

I don't know

Chaouch et al show 2 consanguineous sibs, hom for missense variant, unaffected sib normal genotype. Fatiguable weakness. Also a second unrelated individual comp het for missense variants with myasthenic symptoms.
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Myasthenic syndrome, congenital, 23, presynaptic; 618197

Publications

History Filter Activity

2 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: slc25a1 has been classified as Green List (High Evidence).

16 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: slc25a1 has been classified as Amber List (Moderate Evidence).

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC25A1 were changed from to 26870663

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SLC25A1 were changed from to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC25A1.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC25A1 was added gene: SLC25A1 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC25A1 was set to