Ehlers Danlos syndrome with a likely monogenic cause
Gene: LTBP2Comment on list classification: New gene added to this panel by Andžela Lazdāne. Variants are typically associated with ocular abnormalities, and in a subset of cases (>3) marfanoid features may be observed. Marfan syndrome is an important differential diagnosis for this panel and therefore this gene could be promoted to Green at the next GMS review.Created: 10 Nov 2023, 4:42 p.m. | Last Modified: 10 Nov 2023, 4:42 p.m.
Panel Version: 3.7
Based on the literature several individuals were suspected of Marfan syndrome. Not only due to eye changes, but also due to stature, increased arm span and decreased upper-to-lower body ratio.
Sources: LiteratureCreated: 13 May 2021, 9:55 a.m. | Last Modified: 13 May 2021, 9:57 a.m.
Panel Version: 2.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inreased arm-span-to-height ratio; Decreased upper-to-lower body ratio; Lens dislocation; Pectus excavatum; Myopia
Publications
Publications for gene: LTBP2 were set to PMID: 20179738; PMID: 20617341
Phenotypes for gene: LTBP2 were changed from Inreased arm-span-to-height ratio; Decreased upper-to-lower body ratio; Lens dislocation; Pectus excavatum; Myopia to Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750; Glaucoma 3, primary congenital, D, OMIM:613086; Weill-Marchesani syndrome 3, recessive, OMIM:614819
Tag Q4_23_promote_green tag was added to gene: LTBP2.
Gene: ltbp2 has been classified as Amber List (Moderate Evidence).
gene: LTBP2 was added gene: LTBP2 was added to Ehlers Danlos syndromes. Sources: Literature Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP2 were set to PMID: 20179738; PMID: 20617341 Phenotypes for gene: LTBP2 were set to Inreased arm-span-to-height ratio; Decreased upper-to-lower body ratio; Lens dislocation; Pectus excavatum; Myopia Penetrance for gene: LTBP2 were set to Complete Review for gene: LTBP2 was set to AMBER