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Structural eye disease v1.113 CAPN15 Ivone Leong Tag for-review was removed from gene: CAPN15.
Tag Q1_22_NHS_review was removed from gene: CAPN15.
Structural eye disease v1.113 CAPN15 Ivone Leong commented on gene: CAPN15
Structural eye disease v1.112 CAPN15 Ivone Leong Source Expert Review Green was added to CAPN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v1.106 CAPN15 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CAPN15.
Structural eye disease v1.101 CAPN15 Nicola Ragge edited their review of gene: CAPN15: Added comment: Zha et al. 2020 described 4 families with structural eye anomalies with biallelic variants segregating + animal model. Mor-Shaked et al. 2021 add two siblings with biallelic variant affecting splice donor site and eye abnormalities; Changed publications to: 32885237, 33410501; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.71 CAPN15 Arina Puzriakova Added comment: 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 gliosis
Structural eye disease v1.71 CAPN15 Arina Puzriakova Publications for gene: CAPN15 were set to 32885237
Structural eye disease v1.70 CAPN15 Arina Puzriakova Added comment: Comment on phenotypes: CAPN15 is now associated with a relevant phenotype in OMIM - 'Oculogastrointestinal neurodevelopmental syndrome', MIM# 619318
Structural eye disease v1.70 CAPN15 Arina Puzriakova 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
Structural eye disease v1.29 CAPN15 Nicola Ragge reviewed gene: CAPN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 32885237; Phenotypes: ; Mode of inheritance:
Structural eye disease v1.22 CAPN15 Eleanor Williams changed review comment from: Publication relating to previous conference abstract now available:
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).; to: Publication relating to previous conference abstract now available:
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.
Structural eye disease v1.22 CAPN15 Eleanor Williams Phenotypes for gene: CAPN15 were changed from Anophthalmia, microphthalmia and coloboma to microphthalmia HP:0000568; coloboma HP:0000589
Structural eye disease v1.21 CAPN15 Eleanor Williams Publications for gene: CAPN15 were set to
Structural eye disease v1.20 CAPN15 Eleanor Williams Tag watchlist was removed from gene: CAPN15.
Tag for-review tag was added to gene: CAPN15.
Structural eye disease v1.20 CAPN15 Eleanor Williams Classified gene: CAPN15 as Amber List (moderate evidence)
Structural eye disease v1.20 CAPN15 Eleanor Williams Added comment: Comment on list classification: Promoting gene from red to amber, but with recommendation for green rating following GMS review.
Structural eye disease v1.20 CAPN15 Eleanor Williams Gene: capn15 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.19 CAPN15 Eleanor Williams edited their review of gene: CAPN15: Added comment: Publication relating to previous conference abstract now available:
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).; Changed rating: GREEN; Changed publications: 32885237; Changed phenotypes: microphthalmia HP:0000568, coloboma HP:0000589
Structural eye disease v1.8 CAPN15 Eleanor Williams Tag watchlist tag was added to gene: CAPN15.
Structural eye disease v1.8 CAPN15 Eleanor Williams changed review comment 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.
Sources: Literature; to: 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.
Sources: Literature
Structural eye disease v1.8 CAPN15 Eleanor Williams gene: CAPN15 was added
gene: CAPN15 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN15 were set to Anophthalmia, microphthalmia and coloboma
Review for gene: CAPN15 was set to RED
Added comment: 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.
Sources: Literature