DONSON

downstream neighbor of SON
OMIM: 611428, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green DONSON in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Microcephaly, short stature, and limb abnormalities 617604 Microcephaly-micromelia syndrome 251230
Green DONSON in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly-micromelia syndrome, 251230 Microcephaly, short stature, and limb abnormalities, 617604
Amber DONSON in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 1.184	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