Structural eye disease
Gene: CRIM1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:59 p.m. | Last Modified: 30 Jan 2023, 3:59 p.m.
Panel Version: 2.3
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 decipherCreated: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Zhang: mouse model has cataracts and microphthalmia. Beleggia: one family with Colobomatous macrophthalmia with microcornea syndromeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
602499; Macrophthalmia, Colobomatous, with microcornea; Macrophthalmia, Colobomatous, with microcornea 602499
Publications
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.Created: 18 May 2022, 1:49 p.m. | Last Modified: 18 May 2022, 1:49 p.m.
Panel Version: 1.124
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Zhang: mouse model has cataracts and microphthalmia. Beleggia: one family with Colobomatous macrophthalmia with microcornea syndromeCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrophthalmia, Colobomatous, with microcornea; 602499
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag gene-checked tag was added to gene: CRIM1.
Tag Q2_21_NHS_review was removed from gene: CRIM1. Tag Q2_22_rating was removed from gene: CRIM1.
Source Expert Review Green was added to CRIM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_NHS_review tag was added to gene: CRIM1.
Tag Q1_22_rating was removed from gene: CRIM1. Tag Q2_22_rating tag was added to gene: CRIM1.
Tag Q1_22_rating tag was added to gene: CRIM1.
Publications for gene: CRIM1 were set to 25561690; 26681494
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