Lipodystrophy - childhood onset
Gene: FBN1EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels
3 reviews
Catherine Snow (Genomics England)
The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 4:55 p.m. | Last Modified: 31 Jan 2023, 4:55 p.m.
Panel Version: 3.3
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 10 May 2021, 12:41 p.m. | Last Modified: 10 May 2021, 12:41 p.m.
Panel Version: 2.13
Zornitza Stark (Australian Genomics)
The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development.
This specific phenotype is caused by variants occurring in or affecting exon 64.
More than 5 unrelated individuals reported, rabbit model.
Sources: Expert ReviewCreated: 27 Apr 2021, 10:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan lipodystrophy syndrome, MIM# 616914
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Marfan lipodystrophy syndrome, OMIM:616914
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Lipodystrophy - childhood onset
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Cerebral vascular malformations
- Bilateral congenital or childhood onset cataracts
- Pneumothorax - familial
History Filter Activity
Removed Tag
Catherine Snow (Genomics England)Tag Q2_21_rating was removed from gene: FBN1.
Added New Source, Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to FBN1. Source NHS GMS was added to FBN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: FBN1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FBN1 were changed from Marfan lipodystrophy syndrome, MIM# 616914 to Marfan lipodystrophy syndrome, OMIM:616914
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: FBN1 was added gene: FBN1 was added to Lipodystrophy - childhood onset. Sources: Expert Review Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 20979188; 21594992; 21594993; 24613577; 26860060; 29666143 Phenotypes for gene: FBN1 were set to Marfan lipodystrophy syndrome, MIM# 616914 Review for gene: FBN1 was set to GREEN gene: FBN1 was marked as current diagnostic