Lipodystrophy - childhood onsetGene: FBN1
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
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
Marfan lipodystrophy syndrome, MIM# 616914
Variants in this GENE are reported as part of current diagnostic practice
Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: FBN1.
Phenotypes for gene: FBN1 were changed from Marfan lipodystrophy syndrome, MIM# 616914 to Marfan lipodystrophy syndrome, OMIM:616914
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