SRCAP

Snf2 related CREBBP activator protein
OMIM: 611421, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SRCAP in IUGR and IGF abnormalities

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Floating-Harbor syndrome, 136140

Amber SRCAP in Autism


Version 0.15

Component of the following Super Panels:

  • TEST - Superpanel v2.5
  • review Not set
    Sources
    • Expert Review Amber
    • SFARI

    Green SRCAP in Fetal anomalies


    Version 0.346

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FLOATING-HARBOR SYNDROME

    No list SRCAP 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

    Green SRCAP in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FLOATING-HARBOR SYNDROME 136140

    Green SRCAP in Growth failure in early childhood


    Version 1.3

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Floating Harbor
    • Floating-Harbor syndrome, 136140

    Green SRCAP in Intellectual disability

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

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Floating-Harbor syndrome, 136140
    • FLOATING-HARBOR SYNDROME