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| Speech apraxia v0.38 | SETBP1 |
Thomas Scerri changed review comment from: First proband with LoF SETBP1 variant reported for CAS (Eising et al., 2019; PMID: 29463886) Thirty one further probands with LoF SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis.". Sources: Expert list, Expert Review; to: First reported CAS case with a SETBP1 frameshift variant reported for CAS (Eising et al., 2019; PMID: 29463886) Thirty one further probands with loss-of-function SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%; 25/31) being the most common diagnosis.". Sources: Expert list, Expert Review |
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| Speech apraxia v0.20 | SETBP1 | Zornitza Stark Marked gene: SETBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.20 | SETBP1 | Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.20 | SETBP1 | Zornitza Stark Classified gene: SETBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.20 | SETBP1 | Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.8 | SETBP1 |
Thomas Scerri gene: SETBP1 was added gene: SETBP1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETBP1 were set to 29463886; 33907317 Phenotypes for gene: SETBP1 were set to Intellectual developmental disorder, autosomal dominant 29, MIM# 616078 Review for gene: SETBP1 was set to GREEN Added comment: First proband with LoF SETBP1 variant reported for CAS (Eising et al., 2019; PMID: 29463886) Thirty one further probands with LoF SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis.". Sources: Expert list, Expert Review |
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