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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 |
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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 |