DDG2P
Gene: ZNRF3

ZNRF3 (zinc and ring finger 3)
EnsemblGeneIds (GRCh38): ENSG00000183579
EnsemblGeneIds (GRCh37): ENSG00000183579
OMIM: 612062, Gene2Phenotype
ZNRF3 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 ZNRF3-related neurodevelopmental disorder with macrocephaly are moderate, monoallelic_autosomal and dominant negative (PMID:39168120). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03706.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

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

Phenotypes
MONDO:0100038; ZNRF3-related neurodevelopmental disorder with macrocephaly

Publications

39168120

Mode of pathogenicity
Other

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

ZNRF3-related neurodevelopmental disorder with macrocephaly
MONDO:0100038

OMIM

612062

Clinvar variants

Variants in ZNRF3

Penetrance

None

Publications

39168120

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZNRF3 was added gene: ZNRF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZNRF3 were set to 39168120 Phenotypes for gene: ZNRF3 were set to ZNRF3-related neurodevelopmental disorder with macrocephaly; MONDO:0100038 Mode of pathogenicity for gene: ZNRF3 was set to Other

DDG2P Gene: ZNRF3