SMC1A

structural maintenance of chromosomes 1A
OMIM: 300040, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green SMC1A in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.15

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cornelia de Lange syndrome 2, OMIM:300590
  • Cornelia de Lange syndrome 2, MONDO:0010370

Green SMC1A in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.38

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Cornelia de Lange syndrome 2, OMIM:300590
  • Cornelia de Lange syndrome 2, MONDO:0010370

Green SMC1A in Limb disorders


Version 2.65
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert list
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370

    Red SMC1A in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.88

    review Unknown
    Sources
    • Expert Review Red
    • BRIDGE consortium (NIHRBR-RD)
    Phenotypes
    • Acute Promyelocytic Leukemia
    • Acute myeloid leukaemia (AML)
    • Especially in Down syndrome AML
    Tags
    • somatic

    Amber SMC1A in Holoprosencephaly

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.23
    Latest signed off version: v2.3 (27 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
    Tags
    • for-review

    Green SMC1A in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.264
    Latest signed off version: v2.2 (2 Mar 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370
    • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
    Tags
    • gene-duplication

    Green SMC1A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.137
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370

    Green SMC1A in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370
    • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771

    No list SMC1A in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

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

    Green SMC1A in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CORNELIA DE LANGE SYNDROME TYPE 2 300590
    • EPILEPTIC ENCEPHALOPATHY

    Green SMC1A in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.57
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370
    • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771

    Red SMC1A in Growth failure in early childhood


    Version 1.85
    Latest signed off version: v1.4 (3 Mar 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370
    • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771

    Green SMC1A in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370
    • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771

    Green SMC1A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370
    • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771

    Red SMC1A in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Congenital or cystic renal disease
    • MIM 300590
    • Cornelia de Lange syndrome 2

    Green SMC1A in Severe Paediatric Disorders


    Version 1.84

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Cornelia de Lange syndrome 2, MONDO:0010370
    • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771