Lipodystrophy - childhood onset

Gene: FBN1

Amber List (moderate evidence)

FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 17 panels

2 reviews

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)

Green List (high evidence)

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 Review
Created: 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

History Filter Activity

10 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fbn1 has been classified as Amber List (Moderate Evidence).

10 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: FBN1.

5 May 2021, Gel status: 0

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

27 Apr 2021, Gel status: 0

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