PanelApp (test)
  1. Genes and Genomic Entities
  2. PTCH1:Ensemblv90

PTCH1:Ensemblv90

patched 1
OMIM: 601309, ClinGen, DECIPHER

39 panels

Panel Reviews Mode of inheritance Details
39 panels

Amber PTCH1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.146

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Exstrophy-epispadias complex MONDO:0017919, PTCH1-related

    Amber PTCH1 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.27

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Exstrophy-epispadias complex MONDO:0017919, PTCH1-related

    Green PTCH1 in Holoprosencephaly and septo-optic dysplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.21

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holoprosencephaly 7, MIM# 610828

    Green PTCH1 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.132

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

    Green PTCH1 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.153

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

    Green PTCH1 in Mendeliome


    Version 1.3802

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holoprosencephaly 7, MIM# 610828
    • Exstrophy-epispadias complex MONDO:0017919, PTCH1-related

    Red PTCH1 in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.16

    		1 review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Basal cell nevus syndrome, MIM# 109400

    Green PTCH1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.132

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

    Red PTCH1 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 Red
    • Literature
    Phenotypes
    • Holoprosencephaly 7, MIM# 610828

    Green PTCH1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.578

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

    Green PTCH1 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
    • Holoprosencephaly 7, MIM# 610828

    Red PTCH1 in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Gorlin syndrome

    Red PTCH1 in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Gorlin syndrome

    Red PTCH1 in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Gorlin syndrome

    Red PTCH1 in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.166

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holoprosencephaly 7 (610828)

    Green PTCH1 in Medulloblastoma


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • SA Pathology
    Phenotypes
    • Medulloblastoma, MONDO:0007959
    • Basal cell nevus syndrome 1, MONDO:0958174
    • Basal cell nevus syndrome 1, MIM#109400

    Green PTCH1 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
    • Nevoid basal cell carcinoma syndrome

    Green PTCH1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.293

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • HPE7
    • BCNS, HOLOPROSENCEPHALY 7
    • BASAL CELL NEVUS SYNDROME

    Green PTCH1 in Fetal anomalies


    Version 1.482

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holoprosencephaly 7, MIM# 610828
    • Exstrophy-epispadias complex MONDO:0017919, PTCH1-related

    Green PTCH1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Basal cell nevus syndrome, MIM# 109400
    Tags
    • cancer

    Green PTCH1 in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • nevoid basal cell carcinoma syndrome MONDO:0007187

    Green PTCH1 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert List
    Phenotypes
    • Holoprosencephaly 7, MIM# 610828

    Amber PTCH1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


    Level 2: Renal and urinary tract disorders
    Version 1.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Other
    • Expert Review Amber
    Phenotypes
    • Exstrophy-epispadias complex MONDO:0017919, PTCH1-related

    Amber PTCH1 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Other
    • Expert Review Amber
    Phenotypes
    • Exstrophy-epispadias complex MONDO:0017919, PTCH1-related

    Green PTCH1 in Holoprosencephaly and septo-optic dysplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Holoprosencephaly 7, MIM# 610828

    Green PTCH1 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green PTCH1 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Red PTCH1 in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Basal cell nevus syndrome, MIM# 109400

    Green PTCH1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

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

    Green PTCH1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green PTCH1 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
    • Holoprosencephaly 7, MIM# 610828

    Red PTCH1 in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 1.0

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Holoprosencephaly 7 (610828)

    Green PTCH1 in Medulloblastoma


    Level 2: Cancer Predisposition
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • SA Pathology
    • Expert Review Green
    Phenotypes
    • Medulloblastoma, MONDO:0007959
    • Basal cell nevus syndrome 1, MONDO:0958174
    • Basal cell nevus syndrome 1, MIM#109400

    Green PTCH1 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
    • Nevoid basal cell carcinoma syndrome

    Green PTCH1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • HPE7
    • BCNS, HOLOPROSENCEPHALY 7
    • BASAL CELL NEVUS SYNDROME

    Green PTCH1 in Fetal anomalies


    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Holoprosencephaly 7, MIM# 610828
    • Exstrophy-epispadias complex MONDO:0017919, PTCH1-related

    Green PTCH1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Basal cell nevus syndrome, MIM# 109400
    Tags
    • cancer

    Green PTCH1 in Facial papules


    Level 2: Dermatological disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • nevoid basal cell carcinoma syndrome MONDO:0007187

    Green PTCH1 in Transplant Co-Morbidity


    Level 2: Screening
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert List
    • Expert Review Green
    Phenotypes
    • Holoprosencephaly 7, MIM# 610828