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Severe microcephaly

Gene: POGZ

No list

POGZ (pogo transposable element derived with ZNF domain)
EnsemblGeneIds (GRCh38): ENSG00000143442
EnsemblGeneIds (GRCh37): ENSG00000143442
OMIM: 614787, Gene2Phenotype
POGZ is in 6 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Microcephaly is reported in around half of affected individuals.
Sources: Expert list
Created: 3 Sep 2020, 2:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
White-Sutton syndrome, MIM# 616364

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

3 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: POGZ was added gene: POGZ was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POGZ were set to 26942287 Phenotypes for gene: POGZ were set to White-Sutton syndrome, MIM# 616364 Review for gene: POGZ was set to GREEN gene: POGZ was marked as current diagnostic