Bilateral congenital or childhood onset cataracts
Gene: CAPN15Conference 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
No evidence for mutations in human diseaseCreated: 25 May 2016, 8:10 a.m.
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.
Tag watchlist tag was added to gene: CAPN15.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SOLH* was added to Cataractspanel. Sources: UKGTN