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| Speech apraxia v2.0 | NSD1 | Gene migrated from ENSG00000165671 to ENSG00000165671 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.40 | NSD1 |
Hali Van Niel gene: NSD1 was added gene: NSD1 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD1 were set to 41530369; 16001444 Phenotypes for gene: NSD1 were set to Sotos syndrome (MIM#117550) Review for gene: NSD1 was set to RED Added comment: Reported individual with CAS and de novo in frame deletion (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline. While speech delay or impairment is prevalent in Sotos syndrome, Ball et al. (2005; PMID: 16001444) found errors appear to be language-related rather than motoric and therefore this is not enough to promote evidence. Sources: Expert List, Literature |
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| Speech apraxia v1.15 | Zornitza Stark removed gene:NSD1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | NSD1 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | NSD1 |
Thomas Scerri gene: NSD1 was added gene: NSD1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NSD1 were set to Sotos syndrome, MIM# 117550 Review for gene: NSD1 was set to RED Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.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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