Cataracts

Gene: CAPN15

Red List (low evidence)

CAPN15 (calpain 15)
EnsemblGeneIds (GRCh38): ENSG00000103326
EnsemblGeneIds (GRCh37): ENSG00000103326
OMIM: 603267, Gene2Phenotype
CAPN15 is in 1 panel

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

No evidence for mutations in human disease
Created: 25 May 2016, 8:10 a.m.

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This is on the Manchester congenital cataracts gene panel as the previous HGNC-approved symbol "SOLH" (NM_005632.2). Not associated with a disease in OMIM or G2P. Phenotype added from the Manchester congenital cataracts gene panel.
Created: 13 May 2016, 12:54 p.m.

Details

Sources
  • Expert Review Red
  • UKGTN
OMIM
603267
Clinvar variants
Variants in CAPN15
Penetrance
Complete
Panels with this gene

History Filter Activity

25 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).

25 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 ()

SOLH* was added to Cataractspanel. Sources: UKGTN