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Intellectual disability

Gene: ZNRF3

Amber List (moderate evidence)
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)

I don't know

Comment on list classification: There are only two patients reported with moderate intellectual disability and hence the evidence is currently not sufficient for green rating.
Created: 18 Sep 2024, 11:49 a.m. | Last Modified: 18 Sep 2024, 11:49 a.m.
Panel Version: 7.30
PMID:39168120 reported 12 individuals from 11 families with heterozygous de novo variants in ZNRF3 gene (the variant was inherited only in the son of a father-son pair) and presented with various phenotypes.

Eight of these individuals harboured missense variants and displayed a complex neurodevelopmental disorder, of which missense variants clustered in the RING ligase domain are associated with macrocephalic NDD. In contrast, four individuals harbouring de novo truncating or de novo or inherited large in-frame deletion variants presented with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects, 2 had moderate intellectual disability and 2 had microcephaly. There is also supporting functional evidence available from in vitro assays.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 18 Sep 2024, 11:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder, MONDO:0100038

Publications

Created: 18 Sep 2024, 11:39 a.m.

Panel version: 7.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
gene-checked
OMIM
612062
Clinvar variants
Variants in ZNRF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: ZNRF3.

18 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: znrf3 has been classified as Amber List (Moderate Evidence).

18 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ZNRF3 was added gene: ZNRF3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNRF3 were set to 39168120 Phenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: ZNRF3 was set to AMBER