STAG2

stromal antigen 2
OMIM: 300826, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red STAG2 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.116

review Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Especially in Down syndrome AML
Tags
  • somatic
Green STAG2 in Holoprosencephaly - NOT chromosomal

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cerebral malformation
  • 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
    • Holoprosencephaly 13, X-linked OMIM:301043
    Green STAG2 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    • DD-Gene2Phenotype
    Phenotypes
    • STAG2-related developmental delay with microcephaly and congenital anomalies
    Green STAG2 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • STAG2-related developmental delay with microcephaly and congenital anomalies
    Amber STAG2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    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 Amber
    • Literature
    Phenotypes
    • Holoprosencephaly 13, X-linked, OMIM:301043
    • Mullegama-Klein-Martinez syndrome, OMIM:301022
    Tags
    • Q3_23_promote_green
    Green STAG2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.474
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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
    • Literature
    Phenotypes
    • STAG2-related developmental delay with microcephaly and congenital anomalies
    • STAG2-related X-linked Intellectual Deficiency
    • cohesinopathy
    • Global developmental delay
    • Intellectual disability
    • Abnormality of head or neck
    • Microcephaly
    • Growth delay
    • Hearing impairment
    • Abnormal heart morphology
    Green STAG2 in Severe Paediatric Disorders


    Version 1.182

    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
    • Mullegama-Klein-Martinez syndrome, 301022