Clefting disorders
Gene: FRAS1
FRAS1 (Fraser extracellular matrix complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000138759
EnsemblGeneIds (GRCh37): ENSG00000138759
OMIM: 607830, Gene2Phenotype
FRAS1 is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Fraser syndrome, 219000
- OMIM
- 607830
- Clinvar variants
- Variants in FRAS1
- 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
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
History Filter Activity
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FRAS1 was added gene: FRAS1 was added to Clefting_GEL. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRAS1 were set to 17163535; 16894541; 18203166; 18671281 Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000