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Mendeliome

Gene: FBRSL1

Green List (high evidence)

FBRSL1 (fibrosin like 1)
EnsemblGeneIds (GRCh38): ENSG00000112787
EnsemblGeneIds (GRCh37): ENSG00000112787
FBRSL1 is in 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

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: 4 Jan 2021, 4:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Malformation and intellectual disability syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • syndromic disease MONDO:0002254, FBRSL1-related
  • Malformation and intellectual disability syndrome
Clinvar variants
Variants in FBRSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBRSL1 were changed from syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome to syndromic disease MONDO:0002254, FBRSL1-related; Malformation and intellectual disability syndrome

20 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FBRSL1 were changed from Malformation and intellectual disability syndrome to syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome

4 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbrsl1 has been classified as Green List (High Evidence).

4 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: fbrsl1 has been classified as Green List (High Evidence).

4 Jan 2021, Gel status: 0

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 Mendeliome. 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