GZF1:Ensemblv90

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GZF1 in Mendeliome


Version 1.3802

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 0.365

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 Multiple joint dislocations and laxity

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.9

1 review 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

Green GZF1 in Stickler Syndrome


Level 2: Ophthalmological disorders
Version 1.12

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 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 1.482

    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

    Green GZF1 in Skeletal dysplasia

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

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

    Green GZF1 in Multiple joint dislocations and laxity

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

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