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Clefting

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 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: Although there are more than three unrelated cases reported with either cleft palate or bifid uvula in total, this phenotype is not consistently present in patients with monoallelic variants in POGZ gene. Hence, this gene should only be rated amber.
Created: 20 Jun 2023, 5:52 p.m. | Last Modified: 20 Jun 2023, 5:52 p.m.
Panel Version: 4.42
PMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula.

PMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula.

DECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula (PMID:37010288).

The OMIM entry for White-Sutton syndrome (MIM #616364) does not currently include cleft lip/ palate as one of the clinical manifestations of this syndrome.
Sources: Literature
Created: 20 Jun 2023, 5:48 p.m. | Last Modified: 20 Jun 2023, 5:49 p.m.
Panel Version: 4.40

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
White-Sutton syndrome, OMIM:616364

Publications

Created: 20 Jun 2023, 5:48 p.m.
Last Modified: 20 Jun 2023, 5:49 p.m.
Panel version: 4.40

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • White-Sutton syndrome, OMIM:616364
OMIM
614787
Clinvar variants
Variants in POGZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: pogz has been classified as Amber List (Moderate Evidence).

20 Jun 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: POGZ were set to 26739615; 31782611

20 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: POGZ was added gene: POGZ was added to Clefting. Sources: Literature Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POGZ were set to 26739615; 31782611 Phenotypes for gene: POGZ were set to White-Sutton syndrome, OMIM:616364 Review for gene: POGZ was set to AMBER