Corneal dystrophy
Gene: LTBP2EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 12:12 p.m. | Last Modified: 6 Dec 2024, 12:12 p.m.
Panel Version: 3.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on list classification: This gene could be promoted to Green at the next GMS panel update.Created: 10 Nov 2023, 5:19 p.m. | Last Modified: 10 Nov 2023, 5:19 p.m.
Panel Version: 3.9
Variants in this gene are typically associated with ocular abnormalities, including microspherophakia, megalocornea, ectopia lentis and glaucoma. At least three unrelated individual cases have been associated with megalocornea. This gene was rated as green on the Corneal abnormalities 100K panel and is associated with a relevant phenotype in OMIM and Gene2Phenotype.
Sources: LiteratureCreated: 10 Nov 2023, 5:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- 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
- None
- Publications
- Panels with this gene
-
- Corneal dystrophy
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Corneal abnormalities
- Glaucoma (developmental)
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
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 NHS GMS was added to LTBP2. Source Expert Review Green was added to LTBP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: LTBP2 was added gene: LTBP2 was added to Corneal dystrophy. Sources: Literature Q4_23_promote_green tags were added to gene: LTBP2. Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP2 were set to 19656777; 19361779; 21081970; 20179738; 22539340; 20617341; 22025892 Phenotypes for gene: LTBP2 were set 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 Review for gene: LTBP2 was set to GREEN