DONSON

downstream neighbor of SON
OMIM: 611428, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DONSON in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, MIM# 617604
  • Microcephaly-micromelia syndrome, MIM# 251230
  • MONDO:0009619

Green DONSON in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, MIM# 617604
  • Microcephaly-micromelia syndrome, MIM# 251230
  • MONDO:0009619

Green DONSON in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, MIM# 617604
  • Microcephaly-micromelia syndrome, MIM# 251230
  • MONDO:0009619

Green DONSON in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

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

Green DONSON in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive

Green DONSON in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, MIM# 617604
  • Microcephaly-micromelia syndrome, MIM# 251230
  • MONDO:0009619

Green DONSON in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive