Craniosynostosis

Gene: FREM1

Red List (low evidence)

FREM1 (FRAS1 related extracellular matrix 1)
EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Vissers et al 2011 report CSS in 3/104 cases but the variants in these cases are also in controls (from Zollino et al). Evidence in original paper poor quality and no independent confirmation. Biallelic FREM1 mutations do cause FND (AW) ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
bifid nose; Manitoba oculotrichoanal syndrome; trigonocephaly

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FREM1; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

One de novo mutation in Vissers paper but evidence for association considered weak overall; note FREM1 homozygous mutations associated with BNAR/MOTA syndromes in which craniosynostosis is not a feature
Created: 14 Sep 2015, 1:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
metopic synostosis

Publications

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Manitoba oculotrichoanal syndrome; bifid nose; trigonocephaly for gene: FREM1

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FREM1.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

FREM1 was added to Craniosynostosis syndromespanel. Sources: Expert list