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Speech apraxia v0.38 SPAST Thomas Scerri changed review comment from: First reported CAS case with an de novo missense SPAST variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with an de novo SPAST missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.35 SPAST Zornitza Stark Marked gene: SPAST as ready
Speech apraxia v0.35 SPAST Zornitza Stark Gene: spast has been classified as Red List (Low Evidence).
Speech apraxia v0.35 SPAST Zornitza Stark Classified gene: SPAST as Red List (low evidence)
Speech apraxia v0.35 SPAST Zornitza Stark Gene: spast has been classified as Red List (Low Evidence).
Speech apraxia v0.31 SPAST Thomas Scerri gene: SPAST was added
gene: SPAST was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPAST were set to 36117209
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM# 182601
Review for gene: SPAST was set to RED
Added comment: First reported CAS case with an de novo missense SPAST variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review