PanelApp (stage)
  1. Genes and Genomic Entities
  2. DHCR7

DHCR7

7-dehydrocholesterol reductase
OMIM: 602858, Gene2Phenotype

30 panels

Panel Reviews Mode of inheritance Details
30 panels

Green DHCR7 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert list
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Smith-Lemli-Opitz syndrome, MIM#270400

Green DHCR7 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green DHCR7 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Smith-Lemli-Opitz syndrome
    • OMIM #270400

    Green DHCR7 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.366

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red DHCR7 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Smith-Lemli-Opitz syndrome, MIM#270400

    Amber DHCR7 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 0.240

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Smith-Lemli-Opitz syndrome, MIM# 270400

    Green DHCR7 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.54

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review
    Phenotypes
    • Smith-Lemli-Opitz syndrome (MIM#270400)

    Green DHCR7 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.293

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DHCR7 in Holoprosencephaly and septo-optic dysplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Smith-Lemli-Opitz syndrome, 270400
    • alobar holoprosencephaly (HPE)

    Green DHCR7 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Smith-Lemli-Opitz syndrome, MIM#270400

    Amber DHCR7 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Smith-Lemli-Opitz syndrome (MIM#270400)

    Green DHCR7 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Smith-Lemli-Opitz syndrome (MIM#270400)

    Green DHCR7 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.269

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Smith-Lemli-Opitz syndrome 270400

    Green DHCR7 in Photosensitivity Syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.8

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Smith-Lemli-Opitz syndrome, MIM# 270400

    Green DHCR7 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.276

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Smith-Lemli-Opitz syndrome - MIM#270400

    Green DHCR7 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


    Level 2: Skeletal disorders
    Version 1.15

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Smith-Lemli-Opitz syndrome, MIM# 270400

    Green DHCR7 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DHCR7 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Smith-Lemli-Opitz syndrome MONDO:0010035

    Green DHCR7 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Other
    • Victorian Clinical Genetics Services
    Phenotypes
    • Smith-Lemli-Opitz syndrome 270400

    Green DHCR7 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Smith-Lemli-Opitz syndrome, 270400 (3)

    Red DHCR7 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London South GLH
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Cataracts
    • Intellectual disability
    • Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
    • Disorders of sex development
    • IUGR and IGF abnormalities

    Green DHCR7 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Smith-Lemli-Opitz syndrome

    Green DHCR7 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • SMITH-LEMLI-OPITZ SYNDROME
    • SLOS

    Green DHCR7 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Smith-Lemli-Opitz syndrome MIM#270400
    • Disorders of sterol biosynthesis

    Green DHCR7 in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Smith-Lemli-Opitz syndrome, MIM#270400

    Green DHCR7 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.74

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Smith-Lemli-Opitz syndrome 270400

    Green DHCR7 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Expert list
    • Expert Review
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Smith-Lemli-Opitz syndrome, MIM# 270400

    Green DHCR7 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Smith-Lemli-Opitz syndrome, 270400 (3)

    Green DHCR7 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Smith-Lemli-Opitz syndrome, MIM#270400
    Tags
    • metabolic

    Green DHCR7 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Smith-Lemli-Opitz syndrome, 270400 (3)