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  3. POGZ
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Severe microcephaly

Gene: POGZ

Green List (high evidence)
POGZ (pogo transposable element derived with ZNF domain)
EnsemblGeneIds (GRCh38): ENSG00000143442
EnsemblGeneIds (GRCh37): ENSG00000143442
OMIM: 614787, Gene2Phenotype
POGZ is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Created: 10 Mar 2022, 1:37 p.m.
Last Modified: 10 Mar 2022, 1:37 p.m.
Panel version: 2.292

Arina Puzriakova (Genomics England Curator)

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
Created: 4 Jun 2021, 12:08 p.m.
Last Modified: 4 Jun 2021, 12:08 p.m.
Panel version: 2.200

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

Created: 3 Sep 2020, 2:43 a.m.

Panel version: 2.20

Details

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

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: POGZ.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to POGZ. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jun 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: POGZ were set to 26942287

4 Jun 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: POGZ.

4 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

4 Jun 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POGZ were changed from White-Sutton syndrome, MIM# 616364 to White-Sutton syndrome, OMIM:616364

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