DHCR7

7-dehydrocholesterol reductase
OMIM: 602858, Gene2Phenotype

27 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 27 panels
Amber DHCR7 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	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 1.70	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 1.29	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 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Smith-Lemli-Opitz syndrome, 270400 SLOS
Green DHCR7 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Smith-Lemli-Opitz syndrome
Green DHCR7 in Differences in sex development Level 2: Endocrinology Version 4.14 Latest signed off version: v4.5 (1 May 2024)	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 - NOT chromosomal Level 2: Neurology Version 5.9 Latest signed off version: v5.1 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	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 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Smith-Lemli-Opitz syndrome 270400
Green DHCR7 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Smith-Lemli-Opitz syndrome 270400
Green DHCR7 in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.181	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Smith-Lemli-Opitz syndrome, 270400 renal agenesis
Green DHCR7 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	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 Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SMITH-LEMLI-OPITZ SYNDROME
No list DHCR7 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green DHCR7 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMITH-LEMLI-OPITZ SYNDROME 270400
Green DHCR7 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SMITH-LEMLI-OPITZ SYNDROME SLOS
Amber DHCR7 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	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 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Smith-Lemli-Opitz syndrome 270400
Green DHCR7 in Neurological ciliopathies Level 2: Neurology Version 6.13 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome 270400
Green DHCR7 in Renal ciliopathies Level 2: Renal Version 4.7 Latest signed off version: v4.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Smith-Lemli-Opitz syndrome, OMIM:270400
Green DHCR7 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.5 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Smith-Lemli-Opitz syndrome 270400
Red DHCR7 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	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, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Smith-Lemli-Opitz syndrome 270400
Green DHCR7 in Smith-Lemli-Opitz syndrome Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome, OMIM:270400 Smith-Lemli-Opitz syndrome, MONDO:0010035
Red DHCR7 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Smith Lemli Opitz

DHCR7

27 panels

Amber DHCR7 in Familial Hirschsprung Disease

Sources

Phenotypes

Tags

Green DHCR7 in IUGR and IGF abnormalities

Sources

Phenotypes

Red DHCR7 in Neonatal cholestasis

Sources

Phenotypes

Red DHCR7 in Fetal hydrops

Sources

Phenotypes

Green DHCR7 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green DHCR7 in Differences in sex development

Sources

Phenotypes

Green DHCR7 in Holoprosencephaly - NOT chromosomal

Sources

Phenotypes

Green DHCR7 in Severe microcephaly

Sources

Phenotypes

Green DHCR7 in Skeletal dysplasia

Sources

Phenotypes

Green DHCR7 in CAKUT

Sources

Phenotypes

Green DHCR7 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green DHCR7 in Likely inborn error of metabolism

Sources

Phenotypes

Green DHCR7 in Fetal anomalies

Sources

Phenotypes

No list DHCR7 in Osteogenesis imperfecta

Sources

Phenotypes

Tags

Green DHCR7 in DDG2P

Sources

Phenotypes

Green DHCR7 in Clefting

Sources

Phenotypes

Amber DHCR7 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green DHCR7 in Intellectual disability

Sources

Phenotypes

Red DHCR7 in Structural eye disease

Sources

Phenotypes

Green DHCR7 in Rare multisystem ciliopathy disorders

Sources

Phenotypes

Green DHCR7 in Neurological ciliopathies

Sources

Phenotypes

Green DHCR7 in Renal ciliopathies

Sources

Phenotypes

Green DHCR7 in Skeletal ciliopathies

Sources

Phenotypes

Red DHCR7 in Paediatric or syndromic cardiomyopathy

Sources

Phenotypes

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

Sources

Phenotypes

Green DHCR7 in Smith-Lemli-Opitz syndrome