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DDG2P

Gene: ZBTB47

Red List (low evidence)
ZBTB47 (zinc finger and BTB domain containing 47)
EnsemblGeneIds (GRCh38): ENSG00000114853
EnsemblGeneIds (GRCh37): ENSG00000114853
ZBTB47 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures are limited, monoallelic_autosomal and undetermined (PMID:38327012). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03548.
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 ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 38327012).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures
Tags
gene-checked
Clinvar variants
Variants in ZBTB47
Penetrance
None
Publications
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: ZBTB47 was changed from Other to None

28 Apr 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: ZBTB47.

26 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZBTB47 was added gene: ZBTB47 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZBTB47 were set to 38327012 Phenotypes for gene: ZBTB47 were set to ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures Mode of pathogenicity for gene: ZBTB47 was set to Other