Severe microcephalyGene: POGZ
Comment on list classification: New gene added by Zornitza Stark. Microcephaly is a variable feature (reported in at least 14/31 individuals) but severity is not stated in most cases. However, this can be a presenting feature of the disorder and there are sufficient cases from unrelated families to warrant a Green rating on this panel.
Created: 4 Jun 2021, 12:08 p.m. | Last Modified: 4 Jun 2021, 12:08 p.m.
Panel Version: 2.200
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
White-Sutton syndrome, MIM# 616364
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: POGZ were set to 26942287
Tag Q2_21_rating tag was added to gene: POGZ.
Gene: pogz has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: POGZ were changed from White-Sutton syndrome, MIM# 616364 to White-Sutton syndrome, OMIM:616364
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