GZF1

GDNF inducible zinc finger protein 1
OMIM: 613842, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red GZF1 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Joint laxity, short stature, and myopia, 617662
    • Larsen syndrome
    Green GZF1 in Stickler syndrome


    Level 2: Ophthalmology
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Larsen syndrome, MONDO:0007875
    Green GZF1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Larsen syndrome
    • joint laxity, short stature, and myopia OMIM:617662
    • joint laxity, short stature, and myopia MONDO:0060556
    Green GZF1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Joint laxity, short stature, and myopia, OMIM:617662
    • Joint laxity, short stature, and myopia, MONDO:0060556
    Green GZF1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • LARSEN SYNDROME