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Genetic epilepsy syndromes

Gene: STARD7

Amber List (moderate evidence)

STARD7 (StAR related lipid transfer domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000084090
EnsemblGeneIds (GRCh37): ENSG00000084090
OMIM: 616712, Gene2Phenotype
STARD7 is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added gene as Amber based on advice from Genomics England Clinical team: the causative variants are the repeat expansion, and therefore the STR will be Green. In 158 affected individuals from 22 unrelated families with familial adult myoclonic epilepsy-2, Corbett et al. (2019, PMID:31664034) identified a heterozygous 5-bp repeat expansion (ATTTC)n in intron 1 of the STARD7 gene. Affected individuals had variable expansion of an endogenous (ATTTT)n repeat in addition to the insertion of an abnormal (ATTTC)n repeat.
Created: 18 May 2020, 4:04 p.m. | Last Modified: 3 Jun 2020, 9 p.m.
Panel Version: 2.89
PMID:31664034. Corbett et al., 2019. In 158 affected individuals from 22 unrelated families with MIM:607876, Corbett et al. (2019) identified a heterozygous 5-bp repeat expansion, (ATTTC)n, in the STARD7 gene. The cohort included 2 families who had previously been identified as having an ins/del mutation in the ADRA2B gene (Guerrini et al., 2001 PMID:11701600, and De Fusco et al., 2014, PMID:24114805), suggesting the the ADRA2B allele is not causative.

OMIM disorder 'Epilepsy, familial adult myoclonic, 2, 607876' (previously associated with ADRA2B) is now associated with the STARD7 gene.
Sources: Literature, Other
Created: 18 May 2020, 4:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, familial adult myoclonic, 2, 607876

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Epilepsy, familial adult myoclonic, 2, 607876
  • Familial adult myoclonic epilepsy-2
  • FAME-2
OMIM
616712
Clinvar variants
Variants in STARD7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: STARD7 were changed from Epilepsy, familial adult myoclonic, 2, 607876 to Epilepsy, familial adult myoclonic, 2, 607876; Familial adult myoclonic epilepsy-2; FAME-2

18 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: stard7 has been classified as Amber List (Moderate Evidence).

18 May 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: STARD7 was added gene: STARD7 was added to Genetic epilepsy syndromes. Sources: Literature,Other Mode of inheritance for gene: STARD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STARD7 were set to 11701600; 24114805; 31664034 Phenotypes for gene: STARD7 were set to Epilepsy, familial adult myoclonic, 2, 607876