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  3. FREM1
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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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Reports of mono allelic variants associated with trigonocephaly, however note that Glu1500Val is present in 8 individuals in gnomad, and Arg498Gln is present in 109 individuals. These population frequencies are out of keeping for a monogenic disorder.
Created: 2 Jul 2020, 10:51 a.m. | Last Modified: 2 Jul 2020, 10:51 a.m.
Panel Version: 0.89

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Trigonocephaly 2, MIM# 614485

Publications

Created: 2 Jul 2020, 10:51 a.m.
Last Modified: 2 Jul 2020, 10:51 a.m.
Panel version: 0.89

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Trigonocephaly 2, MIM# 614485
Tags
disputed
OMIM
608944
Clinvar variants
Variants in FREM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frem1 has been classified as Red List (Low Evidence).

2 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FREM1 were changed from to Trigonocephaly 2, MIM# 614485

2 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FREM1 were set to

2 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FREM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frem1 has been classified as Red List (Low Evidence).

2 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: FREM1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FREM1 was added gene: FREM1 was added to Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FREM1 was set to Unknown