Stickler syndrome
Gene: GZF1
GZF1 (GDNF inducible zinc finger protein 1)
EnsemblGeneIds (GRCh38): ENSG00000125812
EnsemblGeneIds (GRCh37): ENSG00000125812
OMIM: 613842, Gene2Phenotype
GZF1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000125812
EnsemblGeneIds (GRCh37): ENSG00000125812
OMIM: 613842, Gene2Phenotype
GZF1 is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
Not associated with phenotype in OMIM, but is a probable association in G2P. At least 2 variants reported in two multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia. Functional studies revealed that GZF1 is expressed in the affected tissues and that truncating variants are associated with a global transcriptional dysregulation that might hint at the disease pathogenesis (PMID 28475863).
This condition is a mimic for Stickler syndrome due to skeletal features and high myopia (Dr Helen Britain)Created: 12 Sep 2017, 2:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Larsen syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Larsen syndrome, MONDO:0007875
- OMIM
- 613842
- Clinvar variants
- Variants in GZF1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
3 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GZF1 were changed from Larsen syndrome to Larsen syndrome, MONDO:0007875
12 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
12 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)GZF1 was created by sleigh
12 Sep 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)GZF1 was added to Stickler syndromepanel. Sources: Literature