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Arthrogryposis

Gene: DHCR24

Green List (high evidence)

DHCR24 (24-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000116133
EnsemblGeneIds (GRCh37): ENSG00000116133
OMIM: 606418, Gene2Phenotype
DHCR24 is in 11 panels

2 reviews

Zerin Hyder (Genomics England)

Green List (high evidence)

Schaaf et al: patient with dermosterolsis with relative macrocephaly, mild arthrogryposis, and dysmorphic facial features. The diagnosis of desmosterolosis was established by detection of significant elevation of plasma desmosterol levels and reduced enzyme activity of DHCR24 upon expression of the patient's DHCR24 cDNA. The patient was found to be a compound heterozygote for c.281G>A (p.R94H) and c.1438G>A (p.E480K) mutations. 4 individuals in Bedouin kindred with dermosterolsis and distal contractures. Two other reports 12457401; 29175559 in association with milder phenotype of AMC.
Created: 27 Nov 2019, 1:51 p.m. | Last Modified: 27 Nov 2019, 1:52 p.m.
Panel Version: 2.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Desmosterolosis 602398

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64

History Filter Activity

26 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DHCR24 were changed from dermosterolsis to Dermosterolsis, 602398

26 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: DHCR24 was added gene: DHCR24 was added to Arthrogryposis. Sources: Literature,Expert Review Green Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to 21559050; 21671375; 12457401; 29175559 Phenotypes for gene: DHCR24 were set to dermosterolsis