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DDG2P

Gene: ZFHX3

Green List (high evidence)
ZFHX3 (zinc finger homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000140836
EnsemblGeneIds (GRCh37): ENSG00000140836
OMIM: 104155, Gene2Phenotype
ZFHX3 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ZFHX3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 30809043, 38412861). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02901.
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 ZFHX3-related neurodevelopmental disorder, OMIM:104155 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38412861;30809043).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease ZFHX3-related developmental disorder (monoallelic) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 32502225;30809043).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
ZFHX3-related neurodevelopmental disorder, OMIM:104155; ZFHX3-related developmental disorder (monoallelic); ZFHX3-related neurodevelopmental disorder

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ZFHX3-related developmental disorder (monoallelic)
Tags
de novo
OMIM
104155
Clinvar variants
Variants in ZFHX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ZFHX3 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: ZFHX3.

26 Sep 2024, Gel status: 3

Added New Source, Set mode of pathogenicity, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ZFHX3. Mode of pathogenicity for gene ZFHX3 was changed from to Other Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZFHX3 was added gene: ZFHX3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX3 were set to 32502225; 30809043 Phenotypes for gene: ZFHX3 were set to ZFHX3-related developmental disorder (monoallelic)