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Cataracts

Gene: CAPN15

Red List (low evidence)

CAPN15 (calpain 15)
EnsemblGeneIds (GRCh38): ENSG00000103326
EnsemblGeneIds (GRCh37): ENSG00000103326
OMIM: 603267, Gene2Phenotype
CAPN15 is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Conference talk/abstract from ESHG2020 - C06.4 - Mouse and human studies support a role for CAPN15 variants in cataract and microphthalmia - Zha et al. Describe a Capn15 mouse knockout with cataract and microphthalmia, and three human cases with phenotypes including growth delay (2/3), cataracts (1/3), coloboma (2/3) and microphthalmia (2/3). They were identified with homozygous or compound heterozygous likely pathogenic variants in CAPN15.
No publication relating to this work has been identified in PubMed at this time.
Created: 23 Jun 2020, 1:22 p.m. | Last Modified: 23 Jun 2020, 1:22 p.m.
Panel Version: 2.3

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
Tags
watchlist
OMIM
603267
Clinvar variants
Variants in CAPN15
Penetrance
Complete
Panels with this gene

History Filter Activity

23 Jun 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: CAPN15.

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