Radial dysplasia

Gene: SAMD9

Red List (low evidence)

SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 18 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
MIRAGE syndrome 617053

History Filter Activity

23 May 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2017, Gel status: 0

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for SAMD9 were set to MIRAGE syndrome 617053

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SAMD9 was added to Radial dysplasiapanel. Sources: Other

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SAMD9 was created by rfoulger