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| Speech apraxia v2.0 | CAMK2A | Gene migrated from ENSG00000070808 to ENSG00000070808 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.40 | CAMK2A |
Hali Van Niel gene: CAMK2A was added gene: CAMK2A was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMK2A were set to 41530369; 28130356; 29784083; 29560374 Phenotypes for gene: CAMK2A were set to Intellectual disability 53 (MIM#617798). Mode of pathogenicity for gene: CAMK2A was set to Other Review for gene: CAMK2A was set to RED Added comment: Reported individual with CAS and dysarthria and de novo CAMK2A variant (c.635C>T; p.(Pro212Leu)) (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline Dominant negative, loss of function and gain of function are known mechanisms of disease in this gene and are associated with CAMK2A -related intellectual disability (PMID: 28130356, 29784083, 29560374) Sources: Expert List, Literature |
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| Speech apraxia v1.8 | Zornitza Stark removed gene:CAMK2A from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | CAMK2A | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | CAMK2A |
Thomas Scerri gene: CAMK2A was added gene: CAMK2A was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAMK2A were set to Intellectual developmental disorder, autosomal dominant 53, MIM# 617798 Review for gene: CAMK2A was set to RED Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. Sources: Expert list, Expert Review |
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