SRCAP

Snf2 related CREBBP activator protein
OMIM: 611421, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SRCAP in Mendeliome Version 1.1891	review	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 1.33 Component of the following Super Panels: Progressive Neurological Conditions	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 0.6063	review	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	review	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	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 1.255	review	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 1.113	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