GLI1

GLI family zinc finger 1
OMIM: 165220, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GLI1 in Mendeliome


Version 2.590

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Postaxial polydactyly MONDO:0020927, GLI1-related
  • Polydactyly, postaxial, type A8 MIM#618123
  • Polydactyly, preaxial I MIM#174400

Green GLI1 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.20

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Polydactyly, postaxial, type A8 MIM#618123
    • Polydactyly, preaxial I MIM#174400

    Green GLI1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.151

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Postaxial polydactyly MONDO:0020927, GLI1-related
    • Polydactyly, postaxial, type A8 MIM#618123
    • Polydactyly, preaxial I MIM#174400

    Green GLI1 in Fetal anomalies


    Version 2.81

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Polydactyly, preaxial I, OMIM:174400
    • Polydactyly, postaxial, type A8, MONDO:0029130
    • Polydactyly, postaxial, type A8, OMIM:618123
    • Preaxial polydactyly of fingers, MONDO:0017425