Ehlers Danlos syndrome with a likely monogenic cause
Gene: LTBP2EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 1 p.m. | Last Modified: 6 Dec 2024, 1 p.m.
Panel Version: 3.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
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.Created: 10 Nov 2023, 4:42 p.m. | Last Modified: 10 Nov 2023, 4:42 p.m.
Panel Version: 3.7
Andžela Lazdāne (Children's Clinical University Hospital of Latvia)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- 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
- OMIM
- 602091
- Clinvar variants
- Variants in LTBP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Corneal dystrophy
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Structural eye disease
- Corneal abnormalities
- Glaucoma (developmental)
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: LTBP2.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to LTBP2. Source NHS GMS was added to LTBP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: LTBP2 were set to PMID: 20179738; PMID: 20617341
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: LTBP2.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ltbp2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Andžela Lazdāne (Children's Clinical University Hospital of Latvia)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