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Structural eye disease
Gene: CRIM1

CRIM1 (cysteine rich transmembrane BMP regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000150938
EnsemblGeneIds (GRCh37): ENSG00000150938
OMIM: 606189, Gene2Phenotype
CRIM1 is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Created: 30 Jan 2023, 3:59 p.m.
Last Modified: 30 Jan 2023, 3:59 p.m.
Panel version: 2.3

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

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
Created: 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 syndrome
Created: 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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 1.101

Ivone Leong (Genomics England Curator)

I don't know

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 syndrome
Created: 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

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 1.124

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Macrophthalmia, Colobomatous, with microcornea, 602499

Tags

gene-checked

OMIM

606189

Clinvar variants

Variants in CRIM1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Feb 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: CRIM1.

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_NHS_review was removed from gene: CRIM1. Tag Q2_22_rating was removed from gene: CRIM1.

30 Jan 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CRIM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 May 2022, Gel status: 2