Research panel - Severe Paediatric Disorders
Gene: FREM1

FREM1 (FRAS1 related extracellular matrix 1)
EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FREM1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bifid nose with or without anorectal and renal anomalies, 608980 (3) | Manitoba oculotrichoanal syndrome, 248450 (3) | Trigonocephaly 2, 614485 (3); Mode of inheritance: ND | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Trigonocephaly 2, 614485
Manitoba oculotrichoanal syndrome, 248450
Bifid nose with or without anorectal and renal anomalies, 608980

OMIM

608944

Clinvar variants

Variants in FREM1

Penetrance

None

Publications

30847515

Panels with this gene