Cerebral vascular malformations

Gene: FBN1

Red List (low evidence)

FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 16 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Mixed literature. Probably very low risk of intracerebral aneurysm in Marfan
Created: 15 Dec 2016, 9:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Marfan syndrome 154700

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to FBN1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FBN1.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

15 Dec 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

FBN1 was added to Cerebrovascular disorderspanel. Sources: UKGTN

15 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

FBN1 was created by agardham