GLI1:Ensemblv90

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GLI1 in Mendeliome


Version 1.3802

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 0.297

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 Fetal anomalies


    Version 1.482

    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

    Green GLI1 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Green GLI1 in Fetal anomalies


    Version 2.0

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