Likely inborn error of metabolism - targeted testing not possible
Gene: DHCR24Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least cases, two of the variants were in cis in a case which was compound heterozygous with another variant (PMID 11519011). Supportive functional studies were also presented.Created: 12 Aug 2019, 3:35 p.m. | Last Modified: 12 Aug 2019, 3:35 p.m.
Panel Version: 1.109
Comment on phenotypes: Desmosterolosis (Disorders of sterol biosynthesis);Unexplained skeletal dysplasia;Intellectual disabilityCreated: 12 Aug 2019, 3:27 p.m. | Last Modified: 12 Aug 2019, 3:27 p.m.
Panel Version: 1.107
Gene: dhcr24 has been classified as Green List (High Evidence).
Gene: dhcr24 has been classified as Green List (High Evidence).
Publications for gene: DHCR24 were set to 27604308
Phenotypes for gene: DHCR24 were changed from Desmosterolosis (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Intellectual disability to Desmosterolosis 602398
Source NHS GMS was added to DHCR24. Source London North GLH was added to DHCR24.
Sarah Leigh: Associated with relevant pheno
gene: DHCR24 was added gene: DHCR24 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to 27604308 Phenotypes for gene: DHCR24 were set to Desmosterolosis (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Intellectual disability