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  2. Progressive Myoclonic Epilepsy
  3. SLC7A6OS
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Progressive Myoclonic Epilepsy

Gene: SLC7A6OS

Red List (low evidence)
SLC7A6OS (solute carrier family 7 member 6 opposite strand)
EnsemblGeneIds (GRCh38): ENSG00000103061
EnsemblGeneIds (GRCh37): ENSG00000103061
SLC7A6OS is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data.
Sources: Literature
Created: 1 Feb 2021, 10:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic, 12, MIM# 619191

Publications

Created: 1 Feb 2021, 10:53 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic, 12, MIM# 619191
Clinvar variants
Variants in SLC7A6OS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12, MIM# 619191

1 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc7a6os has been classified as Red List (Low Evidence).

1 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC7A6OS was added gene: SLC7A6OS was added to Progressive Myoclonic Epilepsy. Sources: Literature Mode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A6OS were set to 33085104 Phenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy Review for gene: SLC7A6OS was set to RED