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Intellectual disability

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 22 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases. Multi-system phenotype includes ID, more information on range and spectrum will be ascertained through additional cases. Appropriate for inclusion on current evidence.
Created: 15 May 2017, 9:29 a.m.
13 cases with mutations, de novo missense to date. Although ID reported as variable, of the 8 that lived past 1 year, 4 were unable to hold up head and had no expressive communication.
Created: 15 May 2017, 9:27 a.m.

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

Phenotypes
MIRAGE syndrome, 617053

Publications

Mode of pathogenicity
Other

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

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 Intellectual disabilitypanel. Sources: Literature

15 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

SAMD9 was created by helen.brittain