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Fetal anomalies

Gene: FBN2

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

3 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.10

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: 1.643

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: 1.643

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURAL ARACHNODACTYLY
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Dominant negative.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • PAGE 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
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_MOI was removed from gene: FBN2.

30 Jan 2023, Gel status: 3

Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to FBN2. Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY 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

28 Apr 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_MOI tag was added to gene: FBN2.

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FBN2 was added gene: FBN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY