Glaucoma (developmental)
Gene: FRAS1EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 13 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB McGregor et al. 2003: Five unrelated families with cryptophthalmos and Fraser syndrome, more published sinceCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRASER SYNDROME 1; 219000
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB McGregor et al. 2003: Five unrelated families with cryptophthalmos and Fraser syndrome, more published sinceCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRASER SYNDROME 1 219000
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 607830
- Clinvar variants
- Variants in FRAS1
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- CAKUT
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Intellectual disability
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Limb disorders
- Fetal anomalies
- DDG2P
- Structural eye disease
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
History Filter Activity
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.
Added New Source
Eik Haraldsdottir (Genomics England)FRAS1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory