Speech apraxia
Gene: ZNF142EnsemblGeneIds (GRCh38): ENSG00000115568
EnsemblGeneIds (GRCh37): ENSG00000115568
OMIM: 604083, Gene2Phenotype
ZNF142 is in 4 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS proband with compound heterozygous ZNF142 missenses variants (Hildebrand et al., 2020; PMID: 32345733).
Khan et al. (2019, PMID: 31036918) report 7 cases with compound heterozygous or else homozygous loss-of-function or missense ZNF142 variants for which the cases have a range of speech deficits, including speech apraxia in one case.
Kameyama et al. (2020, PMID: 34531528) report two brothers with biallelic loss-of-function ZNF142 variants for which the cases have speech deficits.
Christensen et al. (2022; PMID: 35616059) report a further 26 individuals with biallelic ZNF142 variants for which the cases have a range of speech deficits.
Sources: Expert list, Expert ReviewCreated: 25 Jun 2024, 11:48 a.m. | Last Modified: 1 Jul 2024, 10:47 a.m.
Panel Version: 0.38
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM# 618425
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM# 618425
- OMIM
- 604083
- Clinvar variants
- Variants in ZNF142
- 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: znf142 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf142 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: ZNF142 was added gene: ZNF142 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF142 were set to 32345733; 31036918; 34531528; 35616059 Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM# 618425 Review for gene: ZNF142 was set to AMBER