Congenital myaesthenic syndrome
Gene: SLC25A1EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197
- OMIM
- 190315
- Clinvar variants
- Variants in SLC25A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC25A1 were changed from ?Myasthenic syndrome, congenital, 23, presynaptic; 618197 to Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: slc25a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene SLC25A1 were changed from to 26870663
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SLC25A1 were changed from to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC25A1.
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