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Limb disorders

Gene: FBLN1

Amber List (moderate evidence)

FBLN1 (fibulin 1)
EnsemblGeneIds (GRCh38): ENSG00000077942
EnsemblGeneIds (GRCh37): ENSG00000077942
OMIM: 135820, Gene2Phenotype
FBLN1 is in 4 panels

3 reviews

Eleanor Williams (Genomics England Curator)

I don't know

No new evidence so keep as Amber
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180; SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES

Publications

Sarah Leigh (Genomics England Curator)

Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant reported (this is classified as VUS because lack of evidence for disease association). In addition a translocation, t(12;22), reported in a complex type of synpolydactyly was shown to involve FBLN1 (PMID 11836357).
Created: 5 Apr 2018, 2:34 p.m.
Comment on list classification: based on rating as a "possible" Gen2Phen association
Created: 5 Apr 2018, 2:28 p.m.
Comment on mode of inheritance: OMIM records as monoallelic, Gen2Phen as biallelic
Created: 5 Apr 2018, 2:27 p.m.
Comment when marking as ready: Associated with phenotype in G2P. Only one variant of unknown significance reported in this phenotype.
Created: 11 Jul 2016, 2:12 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
  • SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
OMIM
135820
Clinvar variants
Variants in FBLN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

7 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fbln1 has been classified as Amber List (Moderate Evidence).

7 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180; SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES for gene: FBLN1 Publications for gene FBLN1 were changed from 24084572; 11836357 to 11836357; 24084572

5 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FBLN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FBLN1 were set to 24084572; 11836357

5 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FBLN1 were set to 24084572

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FBLN1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FBLN1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FBLN1 was created by Ellen McDonagh