Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Speech apraxia v0.38 TAOK2 Thomas Scerri changed review comment from: First reported CAS case with an de novo missense TAOK2 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with an de novo TAOK2 missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.36 TAOK2 Zornitza Stark Marked gene: TAOK2 as ready
Speech apraxia v0.36 TAOK2 Zornitza Stark Gene: taok2 has been classified as Red List (Low Evidence).
Speech apraxia v0.36 TAOK2 Zornitza Stark Classified gene: TAOK2 as Red List (low evidence)
Speech apraxia v0.36 TAOK2 Zornitza Stark Gene: taok2 has been classified as Red List (Low Evidence).
Speech apraxia v0.31 TAOK2 Thomas Scerri gene: TAOK2 was added
gene: TAOK2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK2 were set to 36117209
Phenotypes for gene: TAOK2 were set to Neurodevelopmental disorder (MONDO:0700092), TAOK2-related
Review for gene: TAOK2 was set to RED
Added comment: First reported CAS case with an de novo missense TAOK2 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review