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  2. Congenital Myasthenia
  3. SLC25A1
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Congenital Myasthenia

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 13 panels

1 review

Kunal Verma (Royal Melbourne Hospital)

Green List (high evidence)

four unrelated families. mild congenital myasthenic syndrome
Created: 12 Feb 2020, 3:10 a.m. | Last Modified: 12 Feb 2020, 3:10 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Myasthenic syndrome, congenital, 23, presynaptic 618197

Publications

Created: 12 Feb 2020, 3:10 a.m.
Last Modified: 12 Feb 2020, 3:10 a.m.
Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ?Myasthenic syndrome, congenital, 23, presynaptic
  • 618197
OMIM
190315
Clinvar variants
Variants in SLC25A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A1 were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC25A1 was added gene: SLC25A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197