Anophthalmia or microphthalmia
Gene: CAPN15
Comment on publications: Mor-Shaked et al. 2021 (PMID:33410501) report a fifth family with 2 sibs who harboured a homozygous 47 base-pair deletion in a minimal intron of CAPN15. Both patients presented with microphthalmia, and one individual also had a right iris coloboma and bilateral optic gliosisCreated: 10 Jun 2021, 2:38 p.m. | Last Modified: 10 Jun 2021, 2:38 p.m.
Panel Version: 1.40
Comment on phenotypes: CAPN15 is now associated with a relevant phenotype in OMIM - 'Oculogastrointestinal neurodevelopmental syndrome', MIM# 619318Created: 10 Jun 2021, 2:33 p.m. | Last Modified: 10 Jun 2021, 2:33 p.m.
Panel Version: 1.39
Comment on list classification: Removed for-review tag and promoting this gene to green as this is a 100K only panel.Created: 6 Oct 2022, 9:20 p.m. | Last Modified: 6 Oct 2022, 9:20 p.m.
Panel Version: 1.51
Comment on list classification: Promoting gene from red to amber, but with recommendation for green rating following next major review.Created: 2 Dec 2020, 6:54 p.m. | Last Modified: 2 Dec 2020, 6:54 p.m.
Panel Version: 1.31
PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth.
Sources: LiteratureCreated: 2 Dec 2020, 6:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microphthalmia HP:0000568; coloboma HP:0000589
Publications
Gene: capn15 has been classified as Green List (High Evidence).
Tag for-review was removed from gene: CAPN15.
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; Microphthalmia, HP:0000568; Coloboma, HP:0000589
Gene: capn15 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CAPN15.
gene: CAPN15 was added gene: CAPN15 was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 32885237 Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589 Review for gene: CAPN15 was set to GREEN