Congenital diaphragmatic hernia
Gene: FREM1
FREM1 (FRAS1 related extracellular matrix 1)
EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000164946
EnsemblGeneIds (GRCh37): ENSG00000164946
OMIM: 608944, Gene2Phenotype
FREM1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes.
Sources: LiteratureCreated: 21 Jun 2021, 8:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital diaphragmatic hernia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Congenital diaphragmatic hernia
- OMIM
- 608944
- Clinvar variants
- Variants in FREM1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
21 Jun 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: frem1 has been classified as Amber List (Moderate Evidence).
21 Jun 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: frem1 has been classified as Amber List (Moderate Evidence).
21 Jun 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FREM1 was added gene: FREM1 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM1 were set to 32016392 Phenotypes for gene: FREM1 were set to Congenital diaphragmatic hernia Review for gene: FREM1 was set to AMBER