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: PMID 18538293 assessed for variants in this gene, in view of it being part of a relevant pathway. No mutations were identified. No cases to link mutation to HPE in this gene at present, therefore considered red.
Created: 30 May 2017, 4:04 p.m.
Mode of inheritance
Source NHS GMS was added to SMAD2.
Promoted to version one after review within the genomics England curation team.
This gene has been classified as Red List (Low Evidence).
Phenotypes for SMAD2 were set to Unknown
Publications for SMAD2 were set to (Roessler (2008) Am J Hum Genet 83,18) 18538293
SMAD2 was created by oniblock
SMAD2 was added to Holoprosencephalypanel. Sources: Radboud University Medical Center, Nijmegen