PanelApp (test)
  1. Genes and Genomic Entities
  2. SETBP1:Ensemblv90

SETBP1:Ensemblv90

SET binding protein 1
OMIM: 611060, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Red SETBP1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 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 0.47

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SETBP1 in Mendeliome


Version 1.3802

1 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 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 0.578

    		0 reviews 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 1.508

    		1 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 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Schinzel-Giedion syndrome

    Red SETBP1 in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Schinzel-Giedion syndrome

    Green SETBP1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Schinzel-Giedion syndrome

    Green SETBP1 in Fetal anomalies


    Version 1.482

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Schinzel-Giedion midface retraction syndrome, MIM# 269150

    Red SETBP1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 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

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 29, MIM# 616078

    Red SETBP1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Red
    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 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green SETBP1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    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 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green SETBP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Schinzel-Giedion syndrome MONDO:0010010
    • complex neurodevelopmental disorder MONDO:0100038

    Green SETBP1 in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Schinzel-Giedion syndrome

    Green SETBP1 in Fetal anomalies


    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Schinzel-Giedion midface retraction syndrome, MIM# 269150

    Green SETBP1 in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 29, MIM# 616078