Severe microcephaly
Gene: FBRSL1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.
Panel Version: 2.282
Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - sufficient number of unrelated cases with distinct variants and relevant phenotype, supported by functional data.Created: 22 Jan 2021, 2:54 p.m. | Last Modified: 22 Jan 2021, 2:54 p.m.
Panel Version: 2.76
Currently not associated with any phenotype in OMIM or Gene2Phenotype.
- PMID: 32424618 (2020): Three different de novo truncating variants identified by WES in three unrelated individuals with a congenital malformation syndrome. Clinical characteristics include respiratory insufficiency, postnatal growth restriction, microcephaly, ID/GDD and other malformations. 2/3 had heart defects, cleft palate and hearing impairment.
Knockdown of Fbrsl1 in Xenopus laevis embryos resulted in disturbance in the outgrowth of cranial nerves and motor neurons, and craniofacial abnormalities which were rescued with the short N-terminal isoform but not with the isoform bearing one of the human variants.
Sources: LiteratureCreated: 22 Jan 2021, 2:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual disability; Microcephaly; Heart defect; Cleft palate; Contractures; Hearing impairment; Skin creases
Publications
Tag gene-checked tag was added to gene: FBRSL1.
Tag for-review was removed from gene: FBRSL1.
Source Expert Review Green was added to FBRSL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: FBRSL1 were changed from to Intellectual disability; Microcephaly; Heart defect; Cleft palate; Contractures; Hearing impairment; Skin creases
Publications for gene: FBRSL1 were set to
Tag for-review tag was added to gene: FBRSL1.
Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).
gene: FBRSL1 was added gene: FBRSL1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: FBRSL1 was set to GREEN