IUGR and IGF abnormalities

Gene: SAMD9

Green List (high 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)

Green List (high evidence)

Comment when marking as ready: Sufficient cases for causation. De novo missense reported to date.
Created: 15 May 2017, 9:06 a.m.
Sufficient cases. BWt varies from -2.2 to -4.0 SDs. Short stature listed as a clinical feature.
Created: 15 May 2017, 9:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MIRAGE syndrome, 617053

Publications

Mode of pathogenicity
Other

History Filter Activity

15 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

SAMD9 was added to IUGR and IGF abnormalitiespanel. Sources: Literature

15 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

SAMD9 was created by helen.brittain