SETBP1

SET binding protein 1
OMIM: 611060, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red SETBP1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	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 1.1891	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 1.33 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 0.522	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 0.6063	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
Red SETBP1 in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Schinzel-Giedion syndrome
Red SETBP1 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Schinzel-Giedion syndrome
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 1.255	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 1.113	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 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Intellectual developmental disorder, autosomal dominant 29, MIM# 616078