SHH

sonic hedgehog
OMIM: 600725, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red SHH in Currarino triad


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • holoprosencephaly
  • Holoprosencephaly 3

Red SHH in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review Not set
Sources
  • Emory Genetics Laboratory

Amber SHH in Pituitary hormone deficiency


Version 2.7
Latest signed off version: v2.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center
  • UKGTN
Phenotypes
  • Microphthalmia with coloboma 5 (611638)
  • Holoprosencephaly 3 (142945)
Tags
  • watchlist

Red SHH in Limb disorders


Version 2.65
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Preaxial polydactyly
    • holoprosencephaly
    • preaxial polydactyly
    • Polydactyly
    Tags
    • regulatory-region

    Red SHH in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.97

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert list
    • Expert Review Red

    Red SHH in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.44

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160

    Green SHH in Holoprosencephaly

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.23
    Latest signed off version: v2.3 (27 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Other
    • UKGTN
    Phenotypes
    • Holoprosencephaly-3
    • Holoprosencephaly
    • Holoprosencephaly 3, 142945

    Red SHH in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.137
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • Preaxial polydactyly type 1 (PPD1)

    Red SHH in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.164

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Expert list

    Red SHH in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Unknown
    Sources
    • Expert Review Red

    Green SHH in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY TYPE 3
    • TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
    • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5
    • SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR

    Green SHH in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638
    • TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500
    • SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250
    • HOLOPROSENCEPHALY TYPE 3 236100

    Green SHH in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.57
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY 3
    • HPE3

    Green SHH in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.42

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160

    Red SHH in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Green SHH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160
    • TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME (TPTPS)

    Green SHH in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Holoprosencephaly-3, 142945
    • Schizencephaly, 269160
    • Single median maxillary central incisor, 147250
    • Microphthalmia with coloboma 5, 611638

    Green SHH in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Single median maxillary central incisor, 147250
    • Holoprosencephaly 3, 142945
    • Microphthalmia with coloboma 5, 611638
    • Schizencephaly, 269160