1. Panels
  2. DDG2P
  3. FBN2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: FBN2

Green List (high evidence)
FBN2 (fibrillin 2)
EnsemblGeneIds (GRCh38): ENSG00000138829
EnsemblGeneIds (GRCh37): ENSG00000138829
OMIM: 612570, Gene2Phenotype
FBN2 is in 8 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CONGENITAL CONTRACTURAL ARACHNODACTYLY, OMIM:121050 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10797416;20799338;8900230;9199560;11281275;9737771;9106527).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
CONGENITAL CONTRACTURAL ARACHNODACTYLY, OMIM:121050

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Eleanor Williams (Genomics England Curator)

Removed the GMS review tags for this gene. Although there is evidence for both monoallelic and biallelic variants in this gene being associated with a relevant phenotype, this panel is intended to reflect the DD panel from Gene2Phenotype.

This gene is green with a mode of inheritance of both mono and biallelic on the skeletal dysplasia panel which is also part of the paediatric disorders super panel and so no variants will be excluded due to the monoallelic mode of inheritance here.
Created: 3 Aug 2022, 4:18 p.m. | Last Modified: 3 Aug 2022, 4:18 p.m.
Panel Version: 2.76
Created: 3 Aug 2022, 4:18 p.m.
Last Modified: 3 Aug 2022, 4:18 p.m.
Panel version: 2.76

Sarah Leigh (Genomics England Curator)

It would appear from PMIDs 33571691, 25558065 & 28383543 that biallelic variants should be considered for this gene and as such the MOI should be changed to BOTH monallelic and biallelic, autosomal or pseudoautosomal.
Created: 28 Apr 2021, 12:30 p.m. | Last Modified: 28 Apr 2021, 12:30 p.m.
Panel Version: 2.27

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 28 Apr 2021, 12:30 p.m.
Last Modified: 28 Apr 2021, 12:30 p.m.
Panel version: 2.27

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: dominant negative
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Contractural arachnodactyly, congenital OMIM:121050
  • congenital contractural arachnodactyly MONDO:0007363
OMIM
612570
Clinvar variants
Variants in FBN2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene FBN2 was changed from Other - please provide details in the comments to Other Publications for gene: FBN2 were updated from 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527; 7493032; 33571691; 25558065; 28383543 to 9737771; 11281275; 20799338; 9106527; 33571691; 28383543; 7493032; 25558065; 9199560; 8900230; 10797416

3 Aug 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_MOI was removed from gene: FBN2.

28 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363

28 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527

28 Apr 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_MOI tag was added to gene: FBN2.

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FBN2 was added gene: FBN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527 Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 Mode of pathogenicity for gene: FBN2 was set to Other - please provide details in the comments