Radial dysplasiaGene: SAMD9
Comment when marking as ready: Multi-system disorder but without a strong radial component. Therefore not considered of phenotypic relevance to this panel, however I will review which other panels SAMD9 should be added to.
Created: 11 May 2017, 1:51 p.m.
Phenotype is not in keeping with radial dysplasia panel, although there is sufficient evidence for causation.
Created: 11 May 2017, 9:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MIRAGE syndrome 617053
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Red List (Low Evidence).
Phenotypes for SAMD9 were set to MIRAGE syndrome 617053
SAMD9 was added to Radial dysplasiapanel. Sources: Other
SAMD9 was created by rfoulger