1. Panels
  2. Deafness and congenital structural abnormalities
  3. FREM2
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Deafness and congenital structural abnormalities

Gene: FREM2

Green List (high evidence)
FREM2 (FRAS1 related extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 13 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Ear abnormalities are not always a feature of Fraser syndrome
Created: 20 Sep 2016, 6:40 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Four homozygous variants reported.
Created: 15 Sep 2016, 9:08 a.m.
Created: 15 Sep 2016, 9:08 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.96

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: 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 0.32

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, 5:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Fraser syndrome with microtia; syndromic features

Publications

Created: 3 Feb 2016, 5:10 p.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Bilateral Microtia
  • 248450
  • Causes Fraser syndrome with microtia
  • syndromic features
  • Fraser syndrome 219000
OMIM
608945
Clinvar variants
Variants in FREM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

FREM2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

14 Oct 2016, Gel status: 4

clearsources

Ellen McDonagh (Genomics England Curator)

FREM2All sources for gene: FREM2 were removed

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN FREM2 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Red

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

FREM2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FREM2 was created by sleigh