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| Speech apraxia v0.38 | MKL2 | Thomas Scerri edited their review of gene: MKL2: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.31 | MKL2 |
Thomas Scerri changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023). Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). Sources: Expert list, Expert Review; to: First reported CAS case with a MKL2 splice acceptor variant (Eising et al., 2019; PMID: 29463886). However, it is only predicted to be likely pathogenic and is observed 500+ times in gnomad v4 and has a low variant quality score. Andrews et al. (2023; PMID: 37013900) identify two cases with de novo MKL2 missense variants (p.R104G and p.A91P) with reported gain of function. One case is reported with apraxia and the other with speech apraxia (Table 1). Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). Sources: Expert list, Expert Review |
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| Speech apraxia v0.8 | MKL2 |
Zornitza Stark changed review comment from: Only two individuals reported.; to: Only two individuals reported with GoF variants. The variant reported in a third individual in PMID 29463886 is present in >500 individuals in gnomAD v4, and is marked as LCLoF. |
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| Speech apraxia v0.8 | MKL2 | Zornitza Stark edited their review of gene: MKL2: Changed publications: 29463886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.4 | MKL2 | Zornitza Stark Marked gene: MKL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.4 | MKL2 | Zornitza Stark Gene: mkl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.4 | MKL2 | Zornitza Stark Phenotypes for gene: MKL2 were changed from Childhood apraxia of speech; see comments. to Neurodevelopmental disorder (MONDO:0700092), MKL2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.3 | MKL2 | Zornitza Stark Classified gene: MKL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.3 | MKL2 | Zornitza Stark Gene: mkl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.2 | MKL2 | Zornitza Stark reviewed gene: MKL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MKL2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.0 | MKL2 |
Thomas Scerri changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023). Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). Sources: Expert list, Expert Review; to: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023). Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). Sources: Expert list, Expert Review |
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| Speech apraxia v0.0 | MKL2 | Thomas Scerri edited their review of gene: MKL2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v0.0 | MKL2 |
Thomas Scerri changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023). Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues. AT Morgan et al., (2024). Sources: Expert list, Expert Review; to: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023). Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). Sources: Expert list, Expert Review |
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| Speech apraxia v0.0 | MKL2 |
Thomas Scerri gene: MKL2 was added gene: MKL2 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MKL2 were set to 29463886; 37013900; 38366112 Phenotypes for gene: MKL2 were set to Childhood apraxia of speech; see comments. Penetrance for gene: MKL2 were set to Complete Added comment: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023). Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues. AT Morgan et al., (2024). Sources: Expert list, Expert Review |
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