Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Mendeliome v1.1591 TOGARAM2 Zornitza Stark Marked gene: TOGARAM2 as ready
Mendeliome v1.1591 TOGARAM2 Zornitza Stark Gene: togaram2 has been classified as Red List (Low Evidence).
Mendeliome v1.1590 TOGARAM2 Zornitza Stark Classified gene: TOGARAM2 as Red List (low evidence)
Mendeliome v1.1590 TOGARAM2 Zornitza Stark Gene: togaram2 has been classified as Red List (Low Evidence).
Mendeliome v1.1589 TOGARAM2 Zornitza Stark Classified gene: TOGARAM2 as Red List (low evidence)
Mendeliome v1.1589 TOGARAM2 Zornitza Stark Gene: togaram2 has been classified as Red List (Low Evidence).
Mendeliome v1.1583 TOGARAM2 Naomi Baker gene: TOGARAM2 was added
gene: TOGARAM2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TOGARAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM2 were set to PMID:38374469
Phenotypes for gene: TOGARAM2 were set to Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related
Review for gene: TOGARAM2 was set to RED
Added comment: Paper reports one individual with bilateral profound hearing loss with a homozygous TOGARAM2 nonsense variant and demonstrated reduced mRNA expression in transfected cells.
Sources: Literature