Microcephaly
Gene: POGZEnsemblGeneIds (GRCh38): ENSG00000143442
EnsemblGeneIds (GRCh37): ENSG00000143442
OMIM: 614787, Gene2Phenotype
POGZ is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Microcephaly is reported in around half of affected individuals.Created: 3 Sep 2020, 2:34 a.m. | Last Modified: 3 Sep 2020, 2:34 a.m.
Panel Version: 0.386
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 Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- White-Sutton syndrome, MIM# 616364
- OMIM
- 614787
- Clinvar variants
- Variants in POGZ
- 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: pogz has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: POGZ were changed from to White-Sutton syndrome, MIM# 616364
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: POGZ were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: POGZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POGZ was added gene: POGZ was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POGZ was set to Unknown