DHCR24

24-dehydrocholesterol reductase
OMIM: 606418, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Amber DHCR24 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Phenotypes Desmosterolosis - MIM#602398
Green DHCR24 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Desmosterolosis, MIM# 602398
Red DHCR24 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Desmosterolosis, MIM# 602398
Green DHCR24 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desmosterolosis, MIM# 602398
Green DHCR24 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Desmosterolosis MIM#602398 Disorders of the metabolism of sterols
Green DHCR24 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Desmosterolosis, MIM# 602398
Green DHCR24 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DHCR24 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 Desmosterolosis, MIM# 602398
Green DHCR24 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 NHS GMS Victorian Clinical Genetics Services Phenotypes Desmosterolosis 602398
Green DHCR24 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 Desmosterolosis, 602398 (3)
Red DHCR24 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Desmosterolosis
Green DHCR24 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 Desmosterolosis MIM#602398 Disorders of the metabolism of sterols
Green DHCR24 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Desmosterolosis, MIM# 602398
Green DHCR24 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desmosterolosis, 602398 (3)
Red DHCR24 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Desmosterolosis
Green DHCR24 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desmosterolosis, 602398 (3)