| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3940 | CRIM1 | Zornitza Stark Marked gene: CRIM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3940 | CRIM1 | Zornitza Stark Gene: crim1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3940 | CRIM1 | Zornitza Stark Classified gene: CRIM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3940 | CRIM1 | Zornitza Stark Gene: crim1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3939 | CRIM1 |
Zornitza Stark gene: CRIM1 was added gene: CRIM1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRIM1 were set to 40114969; 33418956 Phenotypes for gene: CRIM1 were set to Microphthalmia, MONDO:0021129, CRIM1-related Review for gene: CRIM1 was set to AMBER Added comment: PMID 33418956 reports 1 individual, and PMID 40114969 reports 3 individuals from 3 families, all with heterozygous loss‑of‑function CRIM1 variants causing colobomatous macropthalmia with microcornea (MACOM) in an autosomal dominant pattern. Segregation is demonstrated across multiple affected relatives, and mouse and zebrafish loss‑of‑function models recapitulate the ocular phenotype, supporting haploinsufficiency as the disease mechanism. However, three of the variants are deletions of various sizes and one of the variants is present in gnomAD. Sources: Literature |
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