Cerebral Palsy
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
Luisa Weiss (University of Adelaide)
2 cases in one large cohort study, one with a likely pathogenic mutation and one with a pathogenic mutation.
Sources: LiteratureCreated: 25 Jul 2023, 6:10 a.m.
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 Amber
- Phenotypes
-
- White-Sutton syndrome MIM#616364
- OMIM
- 614787
- Clinvar variants
- Variants in POGZ
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Jul 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pogz has been classified as Amber List (Moderate Evidence).
28 Jul 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pogz has been classified as Amber List (Moderate Evidence).
25 Jul 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: POGZ was added gene: POGZ was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POGZ were set to 33528536 Phenotypes for gene: POGZ were set to White-Sutton syndrome MIM#616364 Review for gene: POGZ was set to AMBER