Severe microcephaly
Gene: DONSONEnsemblGeneIds (GRCh38): ENSG00000159147
EnsemblGeneIds (GRCh37): ENSG00000159147
OMIM: 611428, Gene2Phenotype
DONSON is in 3 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
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
Olivia Niblock (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Microcephaly, short stature, and limb abnormalities 617604
- Microcephaly-micromelia syndrome 251230
- OMIM
- 611428
- Clinvar variants
- Variants in DONSON
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DONSON.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DONSON were set to Microcephaly, short stature, and limb abnormalities 617604; Microcephaly-micromelia syndrome 251230
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)DONSON was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Olivia Niblock (Genomics England Curator)DONSON was created by oniblock