PanelApp
  1. Genes and Genomic Entities
  2. SHH

SHH

sonic hedgehog
OMIM: 600725, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red SHH in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.201

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Schizencephaly (MIM#269160)
    Tags
    • disputed

    Green SHH in Anophthalmia_Microphthalmia_Coloboma


    Level 2: Ophthalmological disorders
    Version 1.50

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microphthalmia with coloboma 5, MIM# 611638
    • Holoprosencephaly 3, MIM# 142945

    Green SHH 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holoprosencephaly 3 (MIM#142945)

    Green SHH in Mendeliome


    Version 1.3499

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holoprosencephaly 3, MIM#142945
    • Microphthalmia with coloboma 5, MIM#611638
    • Single median maxillary central incisor, MIM#147250
    • Hypertelorism, ACC, intellectual disability

    Green SHH in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.296

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SHH in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.263

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews Other
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Hypothalamic hamartoma
    Tags
    • somatic

    Green SHH in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

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

    Green SHH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Holoprosencephaly 3 (MIM#142945)

    Red SHH in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Preaxial polydactyly type 1 (PPD1)

    Amber SHH in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.39

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Amber
    Phenotypes
    • Microphthalmia with coloboma 5 (611638)
    • Holoprosencephaly 3 (142945)

    Green SHH 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
    • Holoprosencephaly-3

    Green SHH in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY 3
    • HPE3

    Green SHH in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.6

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Single median maxillary central incisor, MIM# 147250

    Green SHH in Fetal anomalies


    Version 1.465

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • 1. Holoprosencephaly 3 (MIM#142945), AD
    • 2. Microphthalmia with coloboma 5 (MIM#611638), AD
    • 3. Schizencephaly (MIM#269160)
    • 4. Single median maxillary central incisor (MIM#147250) AD

    Red SHH in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Holoprosencephaly 3, MIM#142945