Lipodystrophy_Lipoatrophy
Gene: FBN1EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 24 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; 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.Created: 27 Apr 2021, 8:09 a.m. | Last Modified: 27 Apr 2021, 8:09 a.m.
Panel Version: 0.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan lipodystrophy syndrome, MIM# 616914
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Marfan lipodystrophy syndrome, MIM# 616914
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Additional findings_Adult
- Glaucoma congenital
- Pulmonary Fibrosis_Interstitial Lung Disease
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Hand and foot malformations
- Craniosynostosis
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Lipodystrophy_Lipoatrophy
- Eye Anterior Segment Abnormalities
- Congenital diaphragmatic hernia
- Cataract
- Aortopathy_Connective Tissue Disorders
- Interstitial Lung Disease
- Spontaneous coronary artery dissection
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbn1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FBN1 were changed from to Marfan lipodystrophy syndrome, MIM# 616914
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FBN1 were set to 20979188; 21594992; 21594993; 24613577; 26860060; 29666143
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FBN1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FBN1 was added gene: FBN1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBN1 was set to Unknown