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| Speech apraxia v2.0 | EHMT1 | Gene migrated from ENSG00000181090 to ENSG00000181090 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | EHMT1 |
Hali Van Niel changed review comment from: Two reported individuals with CAS and EHMT1 variants (c.3229 C > T; p.(Gln1077*); c.2842 C > T; p.(Arg948Trp)) (Van Niel et al., 2026; PMID: 41530369) Morrison et al. (2024; PMID: 38290825) reported 49 individuals with EHMT1 variants assessed by a speech pathologist, 34/49 with dysarthria and 29/49 with CAS. Sources: Expert List; to: Two reported individuals with CAS and EHMT1 variants (c.3229 C > T; p.(Gln1077*); c.2842 C > T; p.(Arg948Trp)) (Van Niel et al., 2026; PMID: 41530369). Validated diagnostic finding from VCGS clinical NATA pipeline Morrison et al. (2024; PMID: 38290825) reported 49 individuals with EHMT1 variants assessed by a speech pathologist, 34/49 with dysarthria and 29/49 with CAS. Sources: Expert List |
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| Speech apraxia v1.30 | EHMT1 | Zornitza Stark Marked gene: EHMT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.30 | EHMT1 | Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.30 | EHMT1 | Zornitza Stark Classified gene: EHMT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.30 | EHMT1 | Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.29 | EHMT1 |
Hali Van Niel gene: EHMT1 was added gene: EHMT1 was added to Speech apraxia. Sources: Expert List Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EHMT1 were set to PMID: 41530369; PMID: 38290825 Phenotypes for gene: EHMT1 were set to Kleefstra syndrome 1 (MIM#610253) Review for gene: EHMT1 was set to GREEN Added comment: Two reported individuals with CAS and EHMT1 variants (c.3229 C > T; p.(Gln1077*); c.2842 C > T; p.(Arg948Trp)) (Van Niel et al., 2026; PMID: 41530369) Morrison et al. (2024; PMID: 38290825) reported 49 individuals with EHMT1 variants assessed by a speech pathologist, 34/49 with dysarthria and 29/49 with CAS. Sources: Expert List |
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| Speech apraxia v1.10 | Zornitza Stark removed gene:EHMT1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | EHMT1 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | EHMT1 |
Thomas Scerri gene: EHMT1 was added gene: EHMT1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EHMT1 were set to Kleefstra syndrome 1, MIM# 610253 Review for gene: EHMT1 was set to RED Added comment: Two in-house (as yet unpublished) CAS probands with a pathogenic variant. Sources: Expert list, Expert Review |
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