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Intellectual disability

Gene: FBRSL1

Amber List (moderate evidence)

FBRSL1 (fibrosin like 1)
EnsemblGeneIds (GRCh38): ENSG00000112787
EnsemblGeneIds (GRCh37): ENSG00000112787
FBRSL1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by Zornitza Stark. 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.

Currently not associated with any phenotype in OMIM or Gene2Phenotype.
Created: 22 Jan 2021, 2:50 p.m. | Last Modified: 22 Jan 2021, 2:50 p.m.
Panel Version: 3.722
- PMID: 32424618 (2020): Three different de novo truncating variants identified by WES in three unrelated individuals with a congenital malformation syndrome. ID/GDD was a feature in all cases. 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.
Created: 22 Jan 2021, 2:47 p.m. | Last Modified: 22 Jan 2021, 2:47 p.m.
Panel Version: 3.721

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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 impairement.
Supported by Xenopus oocyte functional studies
Sources: Literature
Created: 7 Jan 2021, 9:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; congenital anomalies

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Heart defect
  • Cleft palate
  • Contractures
  • Hearing impairment
  • Skin creases
Tags
for-review
Clinvar variants
Variants in FBRSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FBRSL1 were changed from Intellectual disability; congenital anomalies to Intellectual disability; Microcephaly; Heart defect; Cleft palate; Contractures; Hearing impairment; Skin creases

22 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).

22 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: FBRSL1.

7 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: FBRSL1 was added gene: FBRSL1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBRSL1 were set to 32424618 Phenotypes for gene: FBRSL1 were set to Intellectual disability; congenital anomalies Review for gene: FBRSL1 was set to GREEN gene: FBRSL1 was marked as current diagnostic