Severe microcephaly

Gene: DONSON

Green List (high evidence)

DONSON (downstream neighbor of SON)
EnsemblGeneIds (GRCh38): ENSG00000159147
EnsemblGeneIds (GRCh37): ENSG00000159147
OMIM: 611428, Gene2Phenotype
DONSON is in 2 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 7 variants reported in at least 29 individuals from various populations
Created: 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)

I don't know

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

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DONSON.

4 Sep 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DONSON were set to Microcephaly, short stature, and limb abnormalities 617604; Microcephaly-micromelia syndrome 251230

4 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2017, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

DONSON was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

15 Aug 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

DONSON was created by oniblock