Stickler Syndrome
Gene: GZF1EnsemblGeneIds (GRCh38): ENSG00000125812
EnsemblGeneIds (GRCh37): ENSG00000125812
OMIM: 613842, Gene2Phenotype
GZF1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported. Multiple joint dislocations and retinal detachment are part of the phenotype. Phenotypic overlap with Stickler syndrome.Created: 11 Oct 2020, 3:41 a.m. | Last Modified: 11 Oct 2020, 3:41 a.m.
Panel Version: 0.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joint laxity, short stature, and myopia, MIM# 617662
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Joint laxity, short stature, and myopia, MIM# 617662
- OMIM
- 613842
- Clinvar variants
- Variants in GZF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gzf1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GZF1 were changed from to Joint laxity, short stature, and myopia, MIM# 617662
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GZF1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GZF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)gene: GZF1 was added gene: GZF1 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GZF1 was set to Unknown