Cataracts

Gene: SREBF2

Red List (low evidence)

SREBF2 (sterol regulatory element binding transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000198911
EnsemblGeneIds (GRCh37): ENSG00000198911
OMIM: 600481, Gene2Phenotype
SREBF2 is in 3 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Cataracts present in lop13 mouse - Merath et al (2011) Mamm Genome. 22(11-12):661-73.
Created: 25 May 2016, 8:11 a.m.

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

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Added to the red list due to expert review.
Created: 31 May 2016, 11:31 a.m.
Is on the Manchester congenital cataracts gene panel. Is not associated with a disease in G2P or OMIM.
Created: 29 Apr 2016, 2:41 p.m.

Details

Sources
  • Expert Review Red
  • UKGTN
OMIM
600481
Clinvar variants
Variants in SREBF2
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low 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 ()

SREBF2 was added to Cataractspanel. Sources: UKGTN