Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: GZF1

Green List (high evidence)

GZF1 (GDNF inducible zinc finger protein 1)
EnsemblGeneIds (GRCh38): ENSG00000125812
EnsemblGeneIds (GRCh37): ENSG00000125812
OMIM: 613842, Gene2Phenotype
GZF1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported. Larsen-like phenotype with multiple joint dislocations.
Created: 11 Oct 2020, 3:43 a.m. | Last Modified: 11 Oct 2020, 3:43 a.m.
Panel Version: 0.48

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
  • Literature
  • NHS GMS
Phenotypes
  • Joint laxity, short stature, and myopia, MIM# 617662
  • Larsen-like syndrome
OMIM
613842
Clinvar variants
Variants in GZF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GZF1 were changed from Larsen syndrome to Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome

11 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GZF1 were set to 28475863

11 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gzf1 has been classified as Green List (High Evidence).

17 Dec 2019, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GZF1 was added gene: GZF1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GZF1 were set to 28475863 Phenotypes for gene: GZF1 were set to Larsen syndrome