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  3. STARD7
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Genetic Epilepsy

Gene: STARD7

No list
STARD7 (StAR related lipid transfer domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000084090
EnsemblGeneIds (GRCh37): ENSG00000084090
OMIM: 616712, Gene2Phenotype
STARD7 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Added to panel as an STR under FAME2
Created: 31 Aug 2021, 1:02 a.m. | Last Modified: 31 Aug 2021, 1:02 a.m.
Panel Version: 0.1178
Created: 31 Aug 2021, 1:02 a.m.
Last Modified: 31 Aug 2021, 1:02 a.m.
Panel version: 0.1178

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

158 individuals from 22 families reported with heterozygous 5-bp repeat expansion (ATTTC)n in intron 1 of the STARD7 gene.
Sources: Literature
Created: 19 May 2020, 10:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial adult myoclonic, 2, 607876

Publications

Mode of pathogenicity
Other

Created: 19 May 2020, 10:49 a.m.

Panel version: 0.704

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Epilepsy, familial adult myoclonic, 2, 607876
Tags
STR
OMIM
616712
Clinvar variants
Variants in STARD7
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

31 Aug 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: stard7 has been removed from the panel.

19 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stard7 has been classified as Green List (High Evidence).

19 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stard7 has been classified as Green List (High Evidence).

19 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STARD7 was added gene: STARD7 was added to Genetic Epilepsy. Sources: Literature STR tags were added to gene: STARD7. Mode of inheritance for gene: STARD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STARD7 were set to 11701600; 24114805; 31664034 Phenotypes for gene: STARD7 were set to Epilepsy, familial adult myoclonic, 2, 607876 Mode of pathogenicity for gene: STARD7 was set to Other Review for gene: STARD7 was set to GREEN