GZF1

GDNF inducible zinc finger protein 1
OMIM: 613842, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GZF1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Joint laxity, short stature, and myopia, MIM# 617662
  • Larsen-like syndrome

Green GZF1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joint laxity, short stature, and myopia, MIM# 617662
  • Larsen-like syndrome

Green GZF1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Joint laxity, short stature, and myopia, MIM# 617662
  • Larsen-like syndrome

Green GZF1 in Stickler Syndrome


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joint laxity, short stature, and myopia, MIM# 617662

Green GZF1 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Joint laxity, short stature, and myopia, OMIM:617662
  • Joint laxity, short stature, and myopia, MONDO:0060556