Gastrointestinal epithelial barrier disorders
Gene: SAMD9Comment on list classification: From previous curation highlighting several individuals with variants in this gene presenting with gastrointestinal phenotypes, this gene will be promoted to green.Created: 26 Jul 2018, 11:14 a.m.
Comment when marking as ready: De novo missense to date. Sufficient cases and phenotype appropriate for inclusion.Created: 15 May 2017, 9:34 a.m.
Of the 13 reported cases, 9 had chronic diarrhea. Colonic dilatation reported. Pathophysiology / mechanism unclear, but in view of the consistency of the phenotype, included as a differential for this panel. De novo missense reported to date.Created: 15 May 2017, 9:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE syndrome 617053
Publications
Mode of pathogenicity
Other
Gene: samd9 has been classified as Green List (High Evidence).
Mode of inheritance for gene: SAMD9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
SAMD9 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
SAMD9 was created by Olivia Niblock