As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:16 p.m. | Last Modified: 29 Jul 2019, 2:16 p.m.
Panel Version: 1.20
Comment when marking as ready: No clear evidence of mutations in NODAL causing HPE in sufficient cases.
Created: 30 May 2017, 4:16 p.m.
Comment on publications: Similarly, PTCH1, GAS1, TDGF1, CDON, FOXH1, NODAL, and SHH-regulating sequences LMBR1 and RBM33 showed no mutations held for diagnosis in the 257 cases sequenced. New case control studies need to be performed in larger cohorts to better evaluate their role and diagnosis potential in HPE.
Created: 30 May 2017, 4:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to NODAL.
Promoted to version one after review within the genomics England curation team.
This gene has been classified as Red List (Low Evidence).
Publications for NODAL were set to 27363716
NODAL was created by oniblock
NODAL was added to Holoprosencephalypanel. Sources: Illumina TruGenome Clinical Sequencing Services