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Speech apraxia v0.38 PHF21A Thomas Scerri changed review comment from: First reported CAS case with a de novo frameshift PHF21A variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo PHF21A frameshift variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.29 PHF21A Zornitza Stark Marked gene: PHF21A as ready
Speech apraxia v0.29 PHF21A Zornitza Stark Gene: phf21a has been classified as Red List (Low Evidence).
Speech apraxia v0.29 PHF21A Zornitza Stark Classified gene: PHF21A as Red List (low evidence)
Speech apraxia v0.29 PHF21A Zornitza Stark Gene: phf21a has been classified as Red List (Low Evidence).
Speech apraxia v0.27 PHF21A Thomas Scerri gene: PHF21A was added
gene: PHF21A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to 36117209
Phenotypes for gene: PHF21A were set to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725
Review for gene: PHF21A was set to RED
Added comment: First reported CAS case with a de novo frameshift PHF21A variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review