SMARCAL1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
OMIM: 606622, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red SMARCAL1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory

Red SMARCAL1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Schimke immunoosseous dysplasia 242900

Green SMARCAL1 in Primary immunodeficiency


Version 1.136

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

Green SMARCAL1 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.82

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Schimke immunoosseous dysplasia 242900

Green SMARCAL1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.203

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia 242900
  • Schimke immunoosseous dysplasia 242900

Red SMARCAL1 in Cytopenia - NOT Fanconi anaemia


Version 0.136

review BIALLELIC, autosomal or pseudoautosomal
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, 242900

Green SMARCAL1 in Renal and urinary tract disorders


Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia 242900

Green SMARCAL1 in Unexplained paediatric onset end-stage renal disease


Version 0.162

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia 242900

Red SMARCAL1 in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SCHIMKE IMMUNOOSSEOUS DYSPLASIA

No list SMARCAL1 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
  • Disproportionate Short Stature

Green SMARCAL1 in DDG2P


Version 1.148

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900

Red SMARCAL1 in Growth failure in early childhood


Version 1.3

review Unknown
Sources
  • Expert Review Red

Red SMARCAL1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Gene2Phenotype confirmed gene with ID HPO

Green SMARCAL1 in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 1.225

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Schimke immunoosseous dysplasia #242900

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


Version 0.8

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • MIM 242900
  • Schimke immunoosseous dysplasia
  • Glomerulopathy