Speech apraxia
Gene: CHD3EnsemblGeneIds (GRCh38): ENSG00000170004
EnsemblGeneIds (GRCh37): ENSG00000170004
OMIM: 602120, Gene2Phenotype
CHD3 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Impaired speech and language are a key feature.Created: 22 Jun 2024, 1:43 a.m. | Last Modified: 22 Jun 2024, 1:43 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Snijders Blok-Campeau syndrome MIM#618205
Publications
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with a de novo CHD3 missense variant (Eising et al., 2019; PMID: 29463886).
Snijders Blok et al. (2018; PMID: 30397230) examined 35 cases with CHD3 variants. The index case was diagnosed with severe speech apraxia.
Van der Spek et al. (2022; PMID: 35346573) examined 21 families with CHD3 variants and found at least 2 independent cases with speech dyspraxia.Created: 19 Jun 2024, 4:21 a.m. | Last Modified: 1 Jul 2024, 11:10 a.m.
Panel Version: 0.38
Variant p.Leu915Phe yielded increased activity (PMID: 30397230).
Evidence of reduced penetrance and variable expressivity (PMID: 35346573).
Sources: Expert list, Expert ReviewCreated: 18 Jun 2024, 8:16 a.m.
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 Green
- Phenotypes
-
- Snijders Blok-Campeau syndrome MIM#618205
- OMIM
- 602120
- Clinvar variants
- Variants in CHD3
- 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: chd3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CHD3 were changed from to Snijders Blok-Campeau syndrome MIM#618205
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
Thomas Scerri (Murdoch Children's Research Institute)gene: CHD3 was added gene: CHD3 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to PMID: 30397230; 38366112; 35346573 Penetrance for gene: CHD3 were set to Complete Review for gene: CHD3 was set to GREEN