Cataracts

Gene: CRYGS

Green List (high evidence)

CRYGS (crystallin gamma S)
EnsemblGeneIds (GRCh38): ENSG00000213139
EnsemblGeneIds (GRCh37): ENSG00000213139
OMIM: 123730, Gene2Phenotype
CRYGS is in 2 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Phenotypes
Cataract 20, multiple types, 116100

Publications

  • Sun et al (2005) J Med Genet 42:706-710
  • Vanita et al (2009) Mol Vis 15:476-481
  • Devi et al (2008) Mol Vis 14:1157-1170

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: Promoted to green due to expert review and evidence of 3 families provided.
Created: 25 May 2016, 10:55 a.m.
Is on the Manchester congenital cataracts gene panel. Not associated in G2P with a phenotype, but in OMIM is associated with cataract 20, multiple types with one family report.
Created: 25 Apr 2016, 9:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 20, multiple types, 116100
OMIM
123730
Clinvar variants
Variants in CRYGS
Penetrance
Complete
Publications
  • Sun et al (2005) J Med Genet 42:706-710
  • Vanita et al (2009) Mol Vis 15:476-481
  • Devi et al (2008) Mol Vis 14:1157-1170
Panels with this gene

History Filter Activity

25 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).

25 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CRYGS were set to Sun et al (2005) J Med Genet 42:706-710; Vanita et al (2009) Mol Vis 15:476-481; Devi et al (2008) Mol Vis 14:1157-1170

25 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).

25 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CRYGS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CRYGS was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CRYGS was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen