Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: ZBTB20

Green List (high evidence)

ZBTB20 (zinc finger and BTB domain containing 20)
EnsemblGeneIds (GRCh38): ENSG00000181722
EnsemblGeneIds (GRCh37): ENSG00000181722
OMIM: 606025, Gene2Phenotype
ZBTB20 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for PRIMROSE SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Dominant negative.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • PRIMROSE SYNDROME
OMIM
606025
Clinvar variants
Variants in ZBTB20
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ZBTB20 was added gene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME