Cataracts

Gene: SC5D

Green List (high evidence)

SC5D (sterol-C5-desaturase)
EnsemblGeneIds (GRCh38): ENSG00000109929
EnsemblGeneIds (GRCh37): ENSG00000109929
OMIM: 602286, Gene2Phenotype
SC5D is in 9 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Well understood biochemical pathway. 1 additonal patient reported in MCGM with compound het mutation, cataracts and symptoms of mild lathosterolosis.
Created: 25 May 2016, 8:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Rossi et al (2007) Am J Med Genet A 143A:2371-2381
  • Gillespie et al (2014) Ophthalmology 121(11):2124-37

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted to green due to expert review.
Created: 31 May 2016, 11:02 a.m.
This is the approved HGNC-approved symbol for "SC5DL" which is on the Manchester congenital cataracts gene panel. See the OMIM link above. It is a confirmed DD gene for lathosterolosis (which includes cataract as a phenotype).
Created: 29 Apr 2016, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
OMIM
602286
Clinvar variants
Variants in SC5D
Penetrance
Complete
Publications
  • Rossi et al (2007) Am J Med Genet A 143A:2371-2381
  • Gillespie et al (2014) Ophthalmology 121(11):2124-37
Panels with this gene

History Filter Activity

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SC5D were set to Rossi et al (2007) Am J Med Genet A 143A:2371-2381; Gillespie et al (2014) Ophthalmology 121(11):2124-37

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SC5D was changed to BIALLELIC, autosomal or pseudoautosomal

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SC5DL* was added to Cataractspanel. Sources: UKGTN