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| Ehlers Danlos syndrome with a likely monogenic cause v3.9 | LTBP2 | Arina Puzriakova Publications for gene: LTBP2 were set to PMID: 20179738; PMID: 20617341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.8 | LTBP2 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.7 | LTBP2 | Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: LTBP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.7 | LTBP2 | Arina Puzriakova Classified gene: LTBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.7 | LTBP2 | Arina Puzriakova Added comment: Comment 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.7 | LTBP2 | Arina Puzriakova Gene: ltbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v2.57 | LTBP2 |
Andžela Lazdāne changed review comment from: 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: Literature; to: 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: Literature |
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| Ehlers Danlos syndrome with a likely monogenic cause v2.57 | LTBP2 |
Andžela Lazdāne 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 Added comment: 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: Literature |
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