PanelApp (staging)
  1. Genes and Genomic Entities
  2. SRCAP

SRCAP

Snf2 related CREBBP activator protein
OMIM: 611421, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SRCAP in Mendeliome


Version 1.2302

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Floating-Harbor syndrome MIM#136140
  • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595

Green SRCAP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MIM#619595
    • Floating-Harbor syndrome MIM#136140

    Green SRCAP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Floating-Harbor syndrome MIM#136140
    • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595

    Green SRCAP in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Floating-Harbor syndrome

    Green SRCAP in Growth failure


    Version 1.76

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Floating-Harbor syndrome, OMIM # 136140

    Green SRCAP in Fetal anomalies


    Version 1.313

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Floating-Harbor syndrome, MIM# 136140

    Red SRCAP in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Floating-Harbor syndrome MIM#136140
    • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595