Holoprosencephaly - NOT chromosomal
Gene: CDONAs 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, 2:12 p.m. | Last Modified: 29 Jul 2019, 2:12 p.m.
Panel Version: 1.20
Comment when marking as ready: 4 unrelated cases to date. Considered sufficient evidence.Created: 30 May 2017, 2:55 p.m.
Comment on list classification: 4 cases, although from a single paper. All missense mutations to date, one proven de novo. Paper reports functional evidence of interaction with SHH.Created: 30 May 2017, 2:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly 11; Holoprosencephaly
Source NHS GMS was added to CDON.
Promoted to version one after review within the genomics England curation team.
Phenotypes for CDON were set to Holoprosencephaly 11, 614226; Holoprosencephaly
This gene has been classified as Green List (High Evidence).
Publications for CDON were set to 21802063
This gene has been classified as Green List (High Evidence).
CDON was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services
CDON was added to Holoprosencephalypanel. Sources: Radboud University Medical Center, Nijmegen
CDON was created by oniblock