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Prepair 1000+

Gene: SC5D

Green List (high evidence)

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

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Lathosterolosis (LATHOS) is an autosomal recessive disorder characterised by a recognisable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency. More than 5 unrelated families reported.
Created: 4 Feb 2025, 4:55 a.m. | Last Modified: 4 Feb 2025, 4:55 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lathosterolosis, MIM#607330

Publications

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sc5d has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SC5D were changed from Lathosterolosis, 607330 (3) to Lathosterolosis, MIM#607330

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SC5D were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Lathosterolosis, 607330 (3) for gene: SC5D

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SC5D was added gene: SC5D was added to Reproductive Carrier Screen_VCGS. 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)