Speech apraxia
Gene: ZFHX4EnsemblGeneIds (GRCh38): ENSG00000091656
EnsemblGeneIds (GRCh37): ENSG00000091656
OMIM: 606940, Gene2Phenotype
ZFHX4 is in 3 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with a ZFHX4 splice acceptor variant (Eising et al., 2019; PMID: 29463886)
Fontana et al. (2021; PMID: 34461323) report a similar splice region variant in ZFHX4 for a proband with a neuropsychological phenotype, and summarise other probands with deletions or point mutations and associated phenotypes. Only one of these has a recorded speech phenotype. Overall this paper doesn't add strong evidence for a link between speech apraxia and ZFHX4.
Sources: Expert list, Expert ReviewCreated: 24 Jun 2024, 4:43 p.m. | Last Modified: 1 Jul 2024, 8:53 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder (MONDO:0700092), ZFHX4-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodevelopmental disorder (MONDO:0700092), ZFHX4-related
- OMIM
- 606940
- Clinvar variants
- Variants in ZFHX4
- 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: zfhx4 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zfhx4 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: ZFHX4 was added gene: ZFHX4 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFHX4 were set to 29463886; 34461323 Phenotypes for gene: ZFHX4 were set to Neurodevelopmental disorder (MONDO:0700092), ZFHX4-related Review for gene: ZFHX4 was set to RED