SMARCAL1

Red SMARCAL1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.65

Sources

• Expert Review Red
• Emory Genetics Laboratory

Green SMARCAL1 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• IUIS Classification February 2018
• London North GLH
• NHS GMS
• GRID V2.0
• Victorian Clinical Genetics Services
• North West GLH
• ESID Registry 20171117
• Expert Review Green
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• Expert Review Green
• ESID Registry 20171117
• GRID V2.0

Phenotypes

• Schimke disease
• Combined immunodeficiencies with associated or syndromic features
• Schimke immunoosseous dysplasia 242900
• Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure

Red SMARCAL1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Yorkshire and North East GLH
• NHS GMS
• Expert Review Red
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Green SMARCAL1 in Pigmentary skin disorders

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

Sources

• Expert Review Green
• Other

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Green SMARCAL1 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• ESID Registry 20171117
• GRID V2.0

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Green SMARCAL1 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory
• Eligibility statement prior genetic testing

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Green SMARCAL1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Red SMARCAL1 in Cytopenia - NOT Fanconi anaemia

Version 3.33
Latest signed off version: v3.0 (22 Mar 2023)

Sources

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

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Green SMARCAL1 in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Red SMARCAL1 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• PAGE DD-Gene2Phenotype

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

No list SMARCAL1 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Proportionate Short Stature/Small for Gestational Age
• Disproportionate Short Stature

Tags

• curated_removed

Green SMARCAL1 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900

Red SMARCAL1 in Growth failure in early childhood

Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Red SMARCAL1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Green SMARCAL1 in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Eligibility statement prior genetic testing

Phenotypes

• Schimke immunoosseous dysplasia, OMIM:242900

Red SMARCAL1 in Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Sources

• Expert Review Red
• Expert review red
• Literature

Phenotypes

• MIM 242900
• Schimke immunoosseous dysplasia
• Glomerulopathy

Green SMARCAL1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Schimke immunoosseous dysplasia, 242900