Anophthalmia or microphthalmia
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
David FitzPatrick (University of Edinburgh)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expert and diagnosticCreated: 10 May 2016, 12:08 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- OMIM
- 608945
- Clinvar variants
- Variants in FREM2
- Penetrance
- Complete
- Panels with this gene
-
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Intellectual disability
- DDG2P
- Retinal disorders
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Structural eye disease
- Limb disorders
- Glaucoma (developmental)
- Fetal anomalies
- Anophthalmia or microphthalmia
- CAKUT
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for FREM2 was changed to BIALLELIC, autosomal or pseudoautosomal
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()FREM2 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory