Speech apraxia
Gene: POGZ
POGZ (pogo transposable element derived with ZNF domain)
EnsemblGeneIds (GRCh38): ENSG00000143442
EnsemblGeneIds (GRCh37): ENSG00000143442
OMIM: 614787, Gene2Phenotype
POGZ is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000143442
EnsemblGeneIds (GRCh37): ENSG00000143442
OMIM: 614787, Gene2Phenotype
POGZ is in 10 panels
1 review
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS proband with a de novo POGZ missense variant (Hildebrand et al., 2020; PMID: 32345733).
Nagy et al. (2022; PMID: 35052493) reported 117 cases from a meta-analysis and found that "the most common symptoms were speech delay in 88%". This is not strong enough evidence to be supporting evidence for speech apraxia per se.
Sources: Expert list, Expert ReviewCreated: 25 Jun 2024, 10:31 a.m. | Last Modified: 1 Jul 2024, 10:40 a.m.
Panel Version: 0.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
White-Sutton syndrome, MIM# 616364
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- White-Sutton syndrome, MIM# 616364
- OMIM
- 614787
- Clinvar variants
- Variants in POGZ
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pogz has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pogz has been classified as Red List (Low Evidence).
25 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Thomas Scerri (Murdoch Children's Research Institute)gene: POGZ was added gene: POGZ was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POGZ were set to 32345733; 35052493 Phenotypes for gene: POGZ were set to White-Sutton syndrome, MIM# 616364 Review for gene: POGZ was set to RED