DYNC1I1

dynein cytoplasmic 1 intermediate chain 1
OMIM: 603772, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DYNC1I1 in Mendeliome


Version 1.4851

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related
Tags
  • SV/CNV

Green DYNC1I1 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.89

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related
    Tags
    • SV/CNV

    Green DYNC1I1 in Fetal anomalies


    Version 1.576

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related
    Tags
    • SV/CNV

    Red DLX5 downstream regulatory region Region in Mendeliome


    Version 1.4851

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Split-hand/foot malformation 1 MIM#183600
    Tags
    • regulatory region

    Red DLX5 downstream regulatory region Region in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.89

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Literature
    Phenotypes
    • Split-hand/foot malformation 1 MIM#183600
    Tags
    • regulatory region

    Red DLX5 downstream regulatory region Region in Fetal anomalies


    Version 1.576

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Literature
    Phenotypes
    • Split-hand/foot malformation 1 MIM#183600
    Tags
    • regulatory region