DONSON

downstream neighbor of SON
OMIM: 611428, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green DONSON in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.264
Latest signed off version: v2.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, short stature, and limb abnormalities 617604
  • Microcephaly-micromelia syndrome 251230

Amber DONSON in Fetal anomalies


Version 1.732
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Microcephaly-micromelia syndrome, 251230
  • Microcephaly, short stature, and limb abnormalities, 617604
Tags
  • for-review

Amber DONSON in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1371
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Microcephaly, short stature, and limb abnormalities (MIM 617604)
    • Microcephaly, short stature, and limb abnormalities 617604
    • Microcephaly-micromelia syndrome (MIM 251230)
    • Microcephaly-micromelia syndrome 251230
    Tags
    • watchlist

    Green DONSON in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly, short stature, and limb abnormalities, 617604
    • Microcephaly-micromelia syndrome, 251230