Speech apraxia
Gene: WDR5EnsemblGeneIds (GRCh38): ENSG00000196363
EnsemblGeneIds (GRCh37): ENSG00000196363
OMIM: 609012, Gene2Phenotype
WDR5 is in 3 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)
Snijders Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering." However, only 1 was diagnosed with speech dyspraxia.
Sources: Expert list, Expert ReviewCreated: 24 Jun 2024, 3:52 p.m. | Last Modified: 1 Jul 2024, 8:51 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder (MONDO:0700092), WDR5-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Neurodevelopmental disorder (MONDO:0700092), WDR5-related
- OMIM
- 609012
- Clinvar variants
- Variants in WDR5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: WDR5 was added gene: WDR5 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR5 were set to 29463886; 36408368 Phenotypes for gene: WDR5 were set to Neurodevelopmental disorder (MONDO:0700092), WDR5-related Review for gene: WDR5 was set to GREEN