DHCR7

7-dehydrocholesterol reductase
OMIM: 602858, Gene2Phenotype

27 panels

Panel Reviews Mode of inheritance Details
27 panels

Amber DHCR7 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Smith-Lemli-Opitz syndrome (MIM:270400) and Hirschsprung disease
Tags
  • watchlist

Green DHCR7 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Smith Lemli Opitz

Red DHCR7 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400

Red DHCR7 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • SLOS

Green DHCR7 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.2

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

Green DHCR7 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Other
Phenotypes
  • Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
  • Smith-Lemli-Opitz syndrome, 270400

Green DHCR7 in Holoprosencephaly

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.2

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

Green DHCR7 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400

Green DHCR7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

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

Green DHCR7 in Unexplained paediatric onset end-stage renal disease


Version 1.0

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

Green DHCR7 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.411

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
  • Cataracts
  • Disorders of sex development
  • Intellectual disability
  • IUGR and IGF abnormalities

Green DHCR7 in Inborn errors of metabolism


Version 2.0

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

Green DHCR7 in Fetal anomalies


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SMITH-LEMLI-OPITZ SYNDROME

No list DHCR7 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age

Green DHCR7 in DDG2P


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SMITH-LEMLI-OPITZ SYNDROME 270400

Green DHCR7 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Red DHCR7 in Growth failure in early childhood


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Smith Lemli Opitz

Amber DHCR7 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Emory Genetics Laboratory
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400

Green DHCR7 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • SMITH-LEMLI-OPITZ SYNDROME (SLOS)

Red DHCR7 in Structural eye disease


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400

Green DHCR7 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.123

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

Green DHCR7 in Groopman et al 2019 - Genes with diagnostic variants


Version 0.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review green
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • MIM 270400
  • Smith-Lemli-Opitz syndrome

Green DHCR7 in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.0

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

Green DHCR7 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.0

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

Green DHCR7 in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.0

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

Red DHCR7 in Cardiomyopathies - including childhood onset


Version 1.0

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

Red DHCR7 in Childhood onset dystonia or chorea or related movement disorder


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Red
  • London North GLH
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400