DHCR7

Amber DHCR7 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

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 1.65

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 1.26

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 1.64

Sources

• Other

Phenotypes

• Smith-Lemli-Opitz syndrome, 270400
• SLOS

Green DHCR7 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

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 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 4.82
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory
• UKGTN

Phenotypes

• Smith-Lemli-Opitz syndrome 270400

Green DHCR7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.176

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list

Phenotypes

• Smith-Lemli-Opitz syndrome, 270400
• renal agenesis

Green DHCR7 in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.617

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 - targeted testing not possible

Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.164
Latest signed off version: v3.0 (22 Mar 2023)

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 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Proportionate Short Stature/Small for Gestational Age

Tags

• curated_removed

Green DHCR7 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 4.110
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• SMITH-LEMLI-OPITZ SYNDROME
• SLOS

Red DHCR7 in Growth failure in early childhood

Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• Smith Lemli Opitz

Amber DHCR7 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.77
Latest signed off version: v3.0 (22 Mar 2023)

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 1.171

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

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 3.19
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• UKGTN

Phenotypes

• Smith-Lemli-Opitz syndrome, OMIM:270400

Green DHCR7 in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.22
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• UKGTN

Phenotypes

• Smith-Lemli-Opitz syndrome 270400

Red DHCR7 in Paediatric or syndromic cardiomyopathy

Version 3.47
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PanelApp
• Expert Review Red
• London North GLH

Phenotypes

• Smith-Lemli-Opitz syndrome 270400

Green DHCR7 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Smith-Lemli-Opitz syndrome, 270400

Green DHCR7 in Smith-Lemli-Opitz syndrome

Version 1.1
Latest signed off version: v1.0 (14 Sep 2023)

Sources

• NHS GMS
• Expert Review Green