SMC1A

structural maintenance of chromosomes 1A
OMIM: 300040, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green SMC1A in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.11

review Other
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590
  • Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044

Amber SMC1A in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590

Red SMC1A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

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
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 85, with or without midline brain defects, MIM#301044

Green SMC1A in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMC1A in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.17

review Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044

Green SMC1A in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.46

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590

Green SMC1A in Mendeliome


Version 1.2374

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590
  • Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044

Green SMC1A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review Other
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 2, MIM# 300590

Green SMC1A in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.15

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 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
    • Expert list
    Phenotypes
    • Cornelia de Lange syndrome 2, MIM# 300590

    Green SMC1A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review Other
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044

    Green SMC1A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    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
    • Genetic Health Queensland
    Phenotypes
    • Cornelia de Lange syndrome 2 MONDO:0010370

    Green SMC1A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    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
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cornelia de Lange syndrome 2 300590

    Green SMC1A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome

    Green SMC1A in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    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
    • CDLS2
    • CORNELIA DE LANGE SYNDROME 2

    Green SMC1A in Growth failure


    Version 1.76

    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
    • Genomics England PanelApp
    Phenotypes
    • Cornelia de Lange syndrome 2, OMIM # 300590, MONDO:0010370

    Green SMC1A in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 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
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cornelia de Lange syndrome 2 300590

    Green SMC1A in Fetal anomalies


    Version 1.314

    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
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
    • Cornelia de Lange syndrome 2, OMIM:300590
    • Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
    • Cornelia de Lange syndrome 2, MONDO:0010370

    Red SMC1A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Cornelia de Lange syndrome 2, MIM# 300590
    • Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044