Deafness and congenital structural abnormalities
Gene: FRAS1

FRAS1 (Fraser extracellular matrix complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 13 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Eight variants reported, six homozygotes and two as compound heterozygotes.
Created: 15 Sep 2016, 8:52 a.m.

Created: 15 Sep 2016, 8:52 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.94

Ana Beleza (Bristol Regional Genetics Service)

Red List (low evidence)

Phenotypes
Fraser syndrome

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Sep 2016, 9:14 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.33

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Bilateral microtia (Version 1.10) panel.
Created: 14 Oct 2016, 10:47 a.m.

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:20 p.m.

Created: 12 Sep 2016, 2:20 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.31

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

Created: 9 Feb 2016, 5:15 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

MIm 219000
Created: 3 Feb 2016, 5:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Fraser syndrome with microtia; syndromic features

Publications

12766769

Created: 3 Feb 2016, 5:06 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
Expert list

Phenotypes

Bilateral Microtia
219000
Fraser syndrome 219000

OMIM

607830

Clinvar variants

Variants in FRAS1

Penetrance

Complete

Publications

Panels with this gene