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| Structural eye disease v2.3 | CRIM1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CRIM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v2.3 | CRIM1 |
Achchuthan Shanmugasundram Tag Q2_21_NHS_review was removed from gene: CRIM1. Tag Q2_22_rating was removed from gene: CRIM1. |
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| Structural eye disease v2.3 | CRIM1 | Achchuthan Shanmugasundram reviewed gene: CRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v2.2 | CRIM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CRIM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.124 | CRIM1 | Ivone Leong Tag Q2_21_NHS_review tag was added to gene: CRIM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.124 | CRIM1 | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.124 | CRIM1 | Ivone Leong edited their review of gene: CRIM1: Added comment: This gene is associated with a phenotype in Gene2Phenotype (limited) but not in OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.124 | CRIM1 | Ivone Leong edited their review of gene: CRIM1: Added comment: This gene is associated with a phenotype in Gene2Phenotype (limited) but not in OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.124 | CRIM1 |
Ivone Leong Tag Q1_22_rating was removed from gene: CRIM1. Tag Q2_22_rating tag was added to gene: CRIM1. |
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| Structural eye disease v1.124 | CRIM1 | Ivone Leong Tag Q1_22_rating tag was added to gene: CRIM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.124 | CRIM1 | Ivone Leong Publications for gene: CRIM1 were set to 25561690; 26681494 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | CRIM1 | Nicola Ragge edited their review of gene: CRIM1: Added comment: Zhang: mouse model with homozygous hypomorphic allele has cataracts and microphthalmia. Beleggia: one family with Colobomatous macrophthalmia with microcornea syndrome with a het ex15-17 deletion segregating in a large Turkish family. Haug et al. 2021 reported a het partial gene deletion affecting exon 15-17 segregating in three generations of a Portuguese/polish family with coloboma and/or microcornea. The CNVs described in these publications take out the final three exons of CRIM1 but do not involve the coding regions of any other genes. They do not appear to have the same breakpoints, and neither of them is present on DGV or decipher; Changed rating: GREEN; Changed publications to: 26681494, 25561690, 33418956, 26681494, 25561690; Changed phenotypes to: 602499, Macrophthalmia, Colobomatous, with microcornea, Macrophthalmia, Colobomatous, with microcornea 602499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | CRIM1 | Nicola Ragge reviewed gene: CRIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26681494, 25561690; Phenotypes: Macrophthalmia, Colobomatous, with microcornea, 602499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | CRIM1 | Ivone Leong edited their review of gene: CRIM1: Changed phenotypes: Macrophthalmia, Colobomatous, with microcornea, 602499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | CRIM1 | Ivone Leong reviewed gene: CRIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26681494, 25561690; Phenotypes: Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | CRIM1 |
Ivone Leong gene: CRIM1 was added gene: CRIM1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRIM1 were set to 25561690; 26681494 Phenotypes for gene: CRIM1 were set to Macrophthalmia, Colobomatous, with microcornea, 602499 |
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