Speech apraxia
Gene: MKL2EnsemblGeneIds (GRCh38): ENSG00000186260
EnsemblGeneIds (GRCh37): ENSG00000186260
OMIM: 609463, Gene2Phenotype
MKL2 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 22 Jun 2024, 1:38 a.m. | Last Modified: 23 Jun 2024, 4:58 a.m.
Panel Version: 0.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder (MONDO:0700092), MKL2-related
Publications
Thomas Scerri (Murdoch Children's Research Institute)
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 ReviewCreated: 19 Jun 2024, 4:44 a.m. | Last Modified: 28 Jun 2024, 3:45 p.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Childhood apraxia of speech; see comments.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Neurodevelopmental disorder (MONDO:0700092), MKL2-related
- OMIM
- 609463
- Clinvar variants
- Variants in MKL2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mkl2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MKL2 were changed from Childhood apraxia of speech; see comments. to Neurodevelopmental disorder (MONDO:0700092), MKL2-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mkl2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Thomas Scerri (Murdoch Children's Research Institute)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