STAG2

stromal antigen 2
OMIM: 300826, Gene2Phenotype

6 panels

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

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

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 2: Neurology
Version 5.7
Latest signed off version: v5.1 (30 Oct 2024)

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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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
    Green STAG2 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    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
    • Literature
    Phenotypes
    • Holoprosencephaly 13, X-linked, OMIM:301043
    • Mullegama-Klein-Martinez syndrome, OMIM:301022
    Green STAG2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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