SAMD9

Green SAMD9 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

Sources

• Expert Review Green
• Literature

Phenotypes

• MIRAGE syndrome 617053

Tags

• missense

Red SAMD9 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

Sources

• Expert Review Red
• Other

Phenotypes

• MIRAGE syndrome 617053

Red SAMD9 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

Sources

• Expert Review Red
• Literature

Phenotypes

• MIRAGE syndrome 617053

Green SAMD9 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

Sources

• Expert Review Green
• Expert list

Green SAMD9 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69

Sources

• Expert Review Green
• Literature

Phenotypes

• MIRAGE syndrome, 617053

Tags

• missense

Green SAMD9 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• Expert Review Green
• IUIS Classification February 2018
• IUIS Classification December 2019
• IUIS Classification December 2019
• IUIS Classification February 2018

Phenotypes

• IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen
• MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy)
• ataxia-thrombocytopenia syndrome
• Bone marrow failure
• Combined immunodeficiencies with associated or syndromic features

Green SAMD9 in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 3.11
Latest signed off version: v3.0 (30 Nov 2022)

Sources

• Expert Review Green
• Literature

Phenotypes

• MIRAGE syndrome, 617053

Tags

• missense

Green SAMD9 in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23

Sources

• Expert Review Green
• Literature

Phenotypes

• MIRAGE syndrome 617053

Tags

• missense

Amber SAMD9 in Familial tumoral calcinosis

Version 1.10
Latest signed off version: v1.2 (19 Feb 2020)

Sources

• Expert Review Amber
• NHS GMS

Phenotypes

• Tumoral calcinosis, familial, normophosphatemic, OMIM:610455

Green SAMD9 in Pigmentary skin disorders

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Familial tumoural calcinosis
• MIRAGE
• NFTC, MIRAGE SYNDROME
• TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL

Amber SAMD9 in Inherited predisposition to acute myeloid leukaemia (AML)

Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• Research
• Literature

Phenotypes

• Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041

Amber SAMD9 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Sources

• IUIS Classification December 2019
• Expert Review Amber
• IUIS Classification February 2018

Phenotypes

• ataxia-thrombocytopenia syndrome
• IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen
• MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy)
• Bone marrow failure
• Combined immunodeficiencies with associated or syndromic features

Green SAMD9 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

Sources

• Expert Review Green
• Literature

Phenotypes

• MIRAGE syndrome, 617053

Tags

• missense

No list SAMD9 in Multiple monogenic benign skin tumours

Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• Expert Review Removed
• London North GLH
• NHS GMS

Phenotypes

• Familial tumoural calcinosis

Tags

• curated_removed

Green SAMD9 in Differences in sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

Sources

• Expert Review Green
• Literature

Phenotypes

• MIRAGE syndrome 617053

Tags

• missense

Green SAMD9 in Cytopenia - NOT Fanconi anaemia

Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• North West GLH
• Yorkshire and North East GLH
• London South GLH
• NHS GMS
• Expert Review Green
• Wessex and West Midlands GLH

Phenotypes

• MIRAGE syndrome, 617053
• 617053 MIRAGE syndrome

Green SAMD9 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy

Green SAMD9 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy

Red SAMD9 in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• MIRAGE syndrome, 617053

Tags

• missense

Green SAMD9 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• MIRAGE syndrome, 617053

Tags

• missense

Green SAMD9 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Tumoral calcinosis, familial, normophosphatemic, 610455
• MIRAGE syndrome, 617053