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Intellectual disability syndromic and non-syndromic

Gene: ZNRF3

Green List (high evidence)

ZNRF3 (zinc and ring finger 3)
EnsemblGeneIds (GRCh38): ENSG00000183579
EnsemblGeneIds (GRCh37): ENSG00000183579
OMIM: 612062, Gene2Phenotype
ZNRF3 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

12 individuals with ZNRF3 variants and various phenotypes. 8 individuals with de novo missense and neurodevelopment disorders (NDD), including cluster of variants in the RING ligase domain with macrocephalic NDD. Plus 4 individuals from 3 families with de novo truncating or de novo/inherited large in-frame deletion variants with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects and 2 had microcephaly. Also, supporting in vitro functional assays.
Sources: Literature
Created: 5 Sep 2024, 8:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Complex neurodevelopmental disorder MONDO:0100038

Publications

Details

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

History Filter Activity

5 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: znrf3 has been classified as Green List (High Evidence).

5 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: znrf3 has been classified as Green List (High Evidence).

5 Sep 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ZNRF3 was added gene: ZNRF3 was added to Intellectual disability syndromic and non-syndromic. 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 GREEN