Microcephaly
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 with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. 2/3 had heart defects, cleft palate and hearing impairment.
Supported by Xenopus oocyte functional studies
Sources: LiteratureCreated: 4 Jan 2021, 4:30 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 Green
- 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 Green List (High Evidence).
Entity classified by Genomics England curator
Sue White (Victorian Clinical Genetics Services)Gene: fbrsl1 has been classified as Green List (High 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 Microcephaly. 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 GREEN