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Cerebral Palsy

Gene: POGZ

Amber List (moderate evidence)

POGZ (pogo transposable element derived with ZNF domain)
EnsemblGeneIds (GRCh38): ENSG00000143442
EnsemblGeneIds (GRCh37): ENSG00000143442
OMIM: 614787, Gene2Phenotype
POGZ is in 10 panels

1 review

Luisa Weiss (University of Adelaide)

I don't know

2 cases in one large cohort study, one with a likely pathogenic mutation and one with a pathogenic mutation.
Sources: Literature
Created: 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