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Speech apraxia v0.38 ZBTB18 Thomas Scerri changed review comment from: First reported CAS case with an de novo nonsense ZBTB18 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with an de novo ZBTB18 nonsense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.38 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Speech apraxia v0.38 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Red List (Low Evidence).
Speech apraxia v0.38 ZBTB18 Zornitza Stark Classified gene: ZBTB18 as Red List (low evidence)
Speech apraxia v0.38 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Red List (Low Evidence).
Speech apraxia v0.31 ZBTB18 Thomas Scerri gene: ZBTB18 was added
gene: ZBTB18 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB18 were set to 36117209
Phenotypes for gene: ZBTB18 were set to Intellectual developmental disorder, autosomal dominant 22, MIM# 612337
Review for gene: ZBTB18 was set to RED
Added comment: First reported CAS case with an de novo nonsense ZBTB18 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review