Glaucoma (developmental)
Gene: FREM2
FREM2 (FRAS1 related extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 13 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB First individuals with Fraser syndrome published by Jajeda et al. 2005, more sinceCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRASER SYNDROME 2; 617666
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB First individuals with Fraser syndrome published by Jajeda et al. 2005, more sinceCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRASER SYNDROME 2 617666
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 608945
- Clinvar variants
- Variants in FREM2
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Intellectual disability
- CAKUT
- Unexplained young onset end-stage renal disease - additional genes
- Limb disorders
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Structural eye disease
- Fetal anomalies
- Clefting
- Glaucoma (developmental)
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)FREM2 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory