Clefting disorders
Gene: FREM2
FREM2 (FRAS1 related extracellular matrix protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000150893
EnsemblGeneIds (GRCh37): ENSG00000150893
OMIM: 608945, Gene2Phenotype
FREM2 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Fraser syndrome, 219000
- OMIM
- 608945
- Clinvar variants
- Variants in FREM2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Callosome
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
History Filter Activity
16 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FREM2 was added gene: FREM2 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM2 were set to 15838507; 16894541; 18671281; 18203166 Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000