Skeletal dysplasia
Gene: ZBTB16

ZBTB16 (zinc finger and BTB domain containing 16)
EnsemblGeneIds (GRCh38): ENSG00000109906
EnsemblGeneIds (GRCh37): ENSG00000109906
OMIM: 176797, Gene2Phenotype
ZBTB16 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Only one variant reported
Created: 1 Aug 2016, 10:06 a.m.

Comment on phenotypes: Structural variant including ZBTB16 reported in Leukemia, acute promyelocytic, PL2F/RA type;
Created: 1 Aug 2016, 10:05 a.m.

Created: 1 Aug 2016, 10:05 a.m.

Panel version: 0.1237

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukemia, acute promyelocytic, PL2F/RA type; Skeletal defects, genital hypoplasia, and mental retardation 612447

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

Created: 17 Jun 2016, 8:10 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Skeletal defects, genital hypoplasia, and mental retardation 612447

OMIM

176797

Clinvar variants

Variants in ZBTB16

Penetrance

Complete

Panels with this gene