Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SAMD3

SAMD3 (sterile alpha motif domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000164483
EnsemblGeneIds (GRCh37): ENSG00000164483
SAMD3 is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

New gene added after review of potential new genes for PID by the Immunology Test Group. This gene was noted as being only theoretical for PID so was rated as Red by the group.
Created: 27 Sep 2019, 2:53 p.m. | Last Modified: 27 Sep 2019, 2:53 p.m.

Panel Version: 1.132

Created: 27 Sep 2019, 2:53 p.m.
Last Modified: 27 Sep 2019, 2:53 p.m.
Panel version: 1.132

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Red
London North GLH

Phenotypes

HLH, abnormal GRA

Clinvar variants

Variants in SAMD3

Penetrance

None

Panels with this gene

History Filter Activity

27 Sep 2019, Gel status: 1

Added New Source, Added New Source, Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SAMD3. Source Expert Review Red was added to SAMD3. Source NHS GMS was added to SAMD3. Rating Changed from No List (delete) to Red List (low evidence)

27 Sep 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: SAMD3 was added gene: SAMD3 was added to Primary immunodeficiency. Sources: Mode of inheritance for gene: SAMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SAMD3 were set to HLH, abnormal GRA

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: SAMD3