Repeat Disorders
STR: FAME2GRCh37 Position: 96862805-96862859
GRCh38 Position: 96197067-96197121
Repeated Sequence: ATTTC
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 661
STARD7 (StAR related lipid transfer domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000084090
EnsemblGeneIds (GRCh37): ENSG00000084090
OMIM: 616712, Gene2Phenotype
STARD7 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NM_020151.3(STARD7):c.291-1572ATTTT[X]ATTTC[X]
158 affected individuals from 22 unrelated families with familial adult myoclonic epilepsy with a heterozygous 5-bp repeat expansion (ATTTC)n in intron 1. Affected individuals had variable expansion of an endogenous (ATTTT)n repeat in addition to the insertion of an abnormal (ATTTC)n repeat, similar molecular finding in other forms of FAME. RNA sequencing from patient derived fibroblasts shows no accumulation of the AUUUU or AUUUC repeat sequences and no effect on STARD7 gene expression, suggesting ATTTC expansions may cause FAME irrespective of the genomic locus involved.
Sources: LiteratureCreated: 31 Aug 2021, 12:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial adult myoclonic, 2 MIM#607876
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- FAME2
- Chromosome
- 2
- GRCh37 Coordinates
- 96862805-96862859
- GRCh38 Coordinates
- 96197067-96197121
- Repeated Sequence
- ATTTC
- Normal Number of Repeats: <
- 0
- Pathogenic Number of Repeats: = or >
- 661
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Epilepsy, familial adult myoclonic, 2 MIM#607876
- Tags
- OMIM
- 616712
- Clinvar variants
- Variants in STARD7
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag adult-onset tag was added to STR: FAME2.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fame2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fame2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: FAME2 was added STR: FAME2 was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAME2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME2 were set to 31664034 Phenotypes for STR: FAME2 were set to Epilepsy, familial adult myoclonic, 2 MIM#607876 Review for STR: FAME2 was set to GREEN STR: FAME2 was marked as clinically relevant