SRCAP

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SRCAP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
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 2.0

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

Green SRCAP in Growth failure


Version 2.0

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