Clefting
Gene: FRAS1EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 13 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: Several patients with mutations have clefts as a featureCreated: 29 May 2017, 3:02 p.m.
Comment on phenotypes: Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation Slavotinek et al., 2006.Created: 29 May 2017, 2:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fraser syndrome, 219000
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fraser syndrome, 219000
- OMIM
- 607830
- Clinvar variants
- Variants in FRAS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Retinal disorders
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Structural eye disease
- Limb disorders
- Glaucoma (developmental)
- Intellectual disability
- Fetal anomalies
- DDG2P
- Anophthalmia or microphthalmia
- CAKUT
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for FRAS1 were set to 16894541; 18671281;16894541;17163535;18203166
Set publications
Louise Daugherty (Genomics England Curator)Publications for FRAS1 were set to 16894541;18671281
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FRAS1 were set to Fraser syndrome, 219000
Added New Source
Louise Daugherty (Genomics England Curator)FRAS1 was added to Cleftingpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Created
Louise Daugherty (Genomics England Curator)FRAS1 was created by LouiseD