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  3. GZF1
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Multiple joint dislocations and laxity

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, 3:46 a.m. | Last Modified: 11 Oct 2020, 3:46 a.m.
Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome

Publications

Created: 11 Oct 2020, 3:46 a.m.
Last Modified: 11 Oct 2020, 3:46 a.m.
Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GZF1 were changed from JOINT LAXITY, SHORT STATURE, AND MYOPIA 617662 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

12 Feb 2020, Gel status: 3

Added New Source, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

Source Victorian Clinical Genetics Services was added to GZF1. Added phenotypes JOINT LAXITY, SHORT STATURE, AND MYOPIA 617662 for gene: GZF1

12 Feb 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: GZF1 was added gene: GZF1 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,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 JOINT LAXITY, SHORT STATURE, AND MYOPIA 617662