Genomics England
GMS Panels
Panels
Genes and Entities

SRCAP

Snf2 related CREBBP activator protein
OMIM: 611421
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FLOATING-HARBOR SYNDROME 136140
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FLOATING-HARBOR SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, OMIM:619595, Floating-Harbor syndrome, OMIM:136140
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Floating-Harbor syndrome, OMIM:136140