Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v2.606 TNRC6A_FAME6_TTTCA Zornitza Stark Marked STR: TNRC6A_FAME6_TTTCA as ready
Mendeliome v2.606 TNRC6A_FAME6_TTTCA Zornitza Stark Str: tnrc6a_fame6_tttca has been classified as Red List (Low Evidence).
Mendeliome v2.606 Zornitza Stark Copied STR TNRC6A_FAME6_TTTCA from panel Repeat Disorders
Mendeliome v2.606 TNRC6A_FAME6_TTTCA Zornitza Stark STR: TNRC6A_FAME6_TTTCA was added
STR: TNRC6A_FAME6_TTTCA was added to Mendeliome. Sources: Expert Review Red,Literature
adult-onset tags were added to STR: TNRC6A_FAME6_TTTCA.
Mode of inheritance for STR: TNRC6A_FAME6_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TNRC6A_FAME6_TTTCA were set to 29507423
Phenotypes for STR: TNRC6A_FAME6_TTTCA were set to Epilepsy, familial adult myoclonic, 6 MIM#618074
Mendeliome v2.0 TNRC6A Gene migrated from ENSG00000090905 to ENSG00000090905 (gene set migration)
Mendeliome v1.1539 TNRC6A Elena Savva Marked gene: TNRC6A as ready
Mendeliome v1.1539 TNRC6A Elena Savva Gene: tnrc6a has been classified as Red List (Low Evidence).
Mendeliome v1.1539 TNRC6A Elena Savva gene: TNRC6A was added
gene: TNRC6A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNRC6A were set to PMID: 29507423; 33040085
Phenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074
Review for gene: TNRC6A was set to RED
Added comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort.

Gene was listed in the Oliver list
Sources: Literature