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Prepair 500+

Gene: SC5D

Green List (high evidence)

SC5D (sterol-C5-desaturase)
EnsemblGeneIds (GRCh38): ENSG00000109929
EnsemblGeneIds (GRCh37): ENSG00000109929
OMIM: 602286, Gene2Phenotype
SC5D is in 11 panels

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Details

History Filter Activity

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: SC5D was added gene: SC5D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)