Speech apraxia
Gene: GNAO1EnsemblGeneIds (GRCh38): ENSG00000087258
EnsemblGeneIds (GRCh37): ENSG00000087258
OMIM: 139311, Gene2Phenotype
GNAO1 is in 8 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS proband with a de novo GNAO1 missense variant (Hildebrand et al., 2020; PMID: 32345733).
These additional cases are less clear for speech apraxia:
Wirth et al. (2020; PMID: 35722775) reported twenty-four independent cases with a range of de novo and inherited variants, including missense and nonsense, for which a speech disorder (dysarthria) was reported for 19 individuals.
Lasa-Aranzasti et al. (2024; PMID: 38881224) report eighteen independent cases and find "all patients developed some type of nonverbal communication, but only four acquired verbal language."
Sources: Expert list, Expert ReviewCreated: 25 Jun 2024, 9:35 a.m. | Last Modified: 1 Jul 2024, 10:29 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 17, MIM# 615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Developmental and epileptic encephalopathy 17, MIM# 615473
- Neurodevelopmental disorder with involuntary movements, MIM# 617493
- OMIM
- 139311
- Clinvar variants
- Variants in GNAO1
- 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: gnao1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnao1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: GNAO1 was added gene: GNAO1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAO1 were set to 32345733; 35722775; 38881224 Phenotypes for gene: GNAO1 were set to Developmental and epileptic encephalopathy 17, MIM# 615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493 Review for gene: GNAO1 was set to AMBER