Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SAMD9OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SAMD9 .PanelApp HGNC gene symbol check: SAMD9 . IUIS Disease: SAMD9 . IUIS Inheritance: AD (GOF) .T cells: N/A, .B cells: Not reported, .IUIS Other affected cells: N/A. IUIS Associated features: IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DyskeratosIs Congenita (DKC), Myelodysplasia, Short TelomeresCreated: 6 Jul 2018, 10:37 a.m.
Complex genetics - germline gain-of-function may be superseded by somatic inactivation (including by monosomy 7), resulting in myelodysplasia/AMLCreated: 29 Jun 2018, 4:41 p.m.
Mode of inheritance
Other
Phenotypes
MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy); ataxia-thrombocytopenia syndrome
Publications
Source IUIS Classification December 2019 was added to SAMD9. Mode of inheritance for gene SAMD9 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; Bone marrow failure for gene: SAMD9 Publications for gene SAMD9 were updated from 28487541; 29175836; 29266745; 29535429 to 28487541; 29535429; 32048120; 29266745; 29175836; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: samd9 has been classified as Amber List (Moderate Evidence).
Gene: samd9 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SAMD9 were set to IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; Combined immunodeficiencies with associated or syndromic features; MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy); ataxia-thrombocytopenia syndrome
Mode of inheritance for gene: SAMD9 was changed from Other - please specifiy in evaluation comments to Other - please specifiy in evaluation comments
Mode of inheritance for gene: SAMD9 was changed from to Other - please specifiy in evaluation comments
Publications for gene: SAMD9 were set to 28487541; 29175836; 29266745; 29535429
Phenotypes for gene SAMD9 were set to IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen, Combined immunodeficiencies with associated or syndromic features
SAMD9 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
SAMD9 was created by Louise Daugherty