SETBP1

SET binding protein 1
OMIM: 611060, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red SETBP1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal dominant 29, MIM#616078 Schinzel-Giedion midface retraction syndrome, MIM#269150
Green SETBP1 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SETBP1 in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150 Intellectual disability, autosomal dominant 29, MIM# 616078
Green SETBP1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150 Intellectual disability, autosomal dominant 29, MIM# 616078
Green SETBP1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SETBP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Schinzel-Giedion syndrome MONDO:0010010 complex neurodevelopmental disorder MONDO:0100038
Green SETBP1 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 Schinzel-Giedion syndrome
Green SETBP1 in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150
Red SETBP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150
Green SETBP1 in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Intellectual developmental disorder, autosomal dominant 29, MIM# 616078