Congenital Heart Defect
Gene: FBRSL1EnsemblGeneIds (GRCh38): ENSG00000112787
EnsemblGeneIds (GRCh37): ENSG00000112787
FBRSL1 is in 7 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
Three children with de novo PTCs that escape NMD, and an overlapping syndromic phenotype.
2/3 had heart defects, cleft palate and hearing impairment.
Variant pathogenicity supported by Xenopus oocyte functional studies
Sources: LiteratureCreated: 4 Jan 2021, 4:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Malformation and intellectual disability syndrome
Publications
- PMID: 32424618
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Malformation and intellectual disability syndrome
- Clinvar variants
- Variants in FBRSL1
- Penetrance
- None
- Publications
-
- PMID: 32424618
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: FBRSL1 was added gene: FBRSL1 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBRSL1 were set to PMID: 32424618 Phenotypes for gene: FBRSL1 were set to Malformation and intellectual disability syndrome Review for gene: FBRSL1 was set to AMBER