1. Panels
  2. DDG2P
  3. ZBTB16
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: ZBTB16

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:18611983). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00630.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0012909; OMIM:612447.0; ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder; SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: uncertain
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447
OMIM
176797
Clinvar variants
Variants in ZBTB16
Penetrance
None
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ZBTB16 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene ZBTB16 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ZBTB16 was added gene: ZBTB16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZBTB16 were set to SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447 Mode of pathogenicity for gene: ZBTB16 was set to Other - please provide details in the comments