Severe microcephaly
Gene: DONSON
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Associated with phenotype in OMIM, not in G2P. At least 7 variants reported in at least 29 individuals from various populationsCreated: 4 Sep 2017, 8:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and limb abnormalities 617604; Microcephaly-micromelia syndrome 251230
Publications
Three cases cited in literature with mutation in intron in DONSON gene, as well as animal model support. However, paper focuses on a small 'First Nations' population in Canada (the only population thus far where the variant has been observed). Suspect founder mutation.Created: 15 Aug 2017, 2:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly-Micromelia syndrome
Publications
Source NHS GMS was added to DONSON.
Phenotypes for DONSON were set to Microcephaly, short stature, and limb abnormalities 617604; Microcephaly-micromelia syndrome 251230
This gene has been classified as Green List (High Evidence).
DONSON was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
DONSON was created by oniblock