Anophthalmia or microphthalmia
Gene: FREM1
FREM1 (FRAS1 related extracellular matrix 1)
EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 11 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 current diagnosticCreated: 10 May 2016, 12:08 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- OMIM
- 608944
- Clinvar variants
- Variants in FREM1
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Anophthalmia or microphthalmia
- Intellectual disability
- 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
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: 1
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for FREM1 was changed to BIALLELIC, autosomal or pseudoautosomal
28 Apr 2015, Gel status: 1
Added New Source
GEL ()FREM1 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory