Bilateral microtia
Gene: FRAS1EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 13 panels
2 reviews
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#219000:Fraser syndrome [Unusual hairline with hair growth on temples extending to lateral eyebrow; Middle ear malformations; External ear malformations; Conductive hearing loss; Cryptophthalmos; Absent or malformed lacrimal ducts; Hypertelorism; Blindness; Hypoplastic, notched nares; Broad, low nasal bridge; Midline nasal cleavage; Cleft lip; Cleft palate; Teeth crowding; Laryngeal stenosis; Laryngeal atresia; Widely spaced nipples; Umbilical anomaly; Small penis; Clitoral enlargement; Hypospadias; Cryptorchidism; Vaginal atresia; Bicornuate uterus; Renal agenesis/hypoplasia; Diastasis of symphysis pubis; Syndactyly; Unusual hairline; Mental retardation; Microcephaly; Meningomyelocele; Encephalocele]
Publications
Maria Bitner-Glindzicz (UCL)
MIm 219000Created: 3 Feb 2016, 5:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Fraser syndrome with microtia; syndromic features
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Bilateral Microtia
- 219000
- OMIM
- 607830
- Clinvar variants
- Variants in FRAS1
- Penetrance
- Complete
- Publications
- 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
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for FRAS1 were set to Bilateral Microtia; 219000
Set publications
Richard Scott (Genomics England Curator)Publications for FRAS1 were set to 12766769
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for FRAS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FRAS1 was added to Bilateral Microtiapanel. Sources: Expert list