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| Mendeliome v0.8987 | FAME2 |
Bryony Thompson STR: FAME2 was added STR: FAME2 was added to Mendeliome. Sources: Literature Mode of inheritance for STR: FAME2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAME2 were set to 11701600; 24114805; 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 Added comment: 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: Literature |
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| Mendeliome v0.8986 | STARD7 | Bryony Thompson Classified gene: STARD7 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8986 | STARD7 | Bryony Thompson Added comment: Comment on list classification: Added to panel as an STR under FAME2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8986 | STARD7 | Bryony Thompson Gene: stard7 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2833 | STARD7 | Zornitza Stark Marked gene: STARD7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2833 | STARD7 | Zornitza Stark Gene: stard7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2833 | STARD7 | Zornitza Stark Classified gene: STARD7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2833 | STARD7 | Zornitza Stark Gene: stard7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2832 | STARD7 |
Zornitza Stark gene: STARD7 was added gene: STARD7 was added to Mendeliome. Sources: Expert list 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 Added comment: 158 individuals from 22 families reported with heterozygous 5-bp repeat expansion (ATTTC)n in intron 1 of the STARD7 gene. Sources: Expert list |
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