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  2. Eye Anterior Segment Abnormalities
  3. LTBP2
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Eye Anterior Segment Abnormalities

Gene: LTBP2

Green List (high evidence)
LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association
Sources: Literature
Created: 24 Nov 2023, 4:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MIM#251750

Created: 24 Nov 2023, 4:13 a.m.

Panel version: 1.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MIM#251750
OMIM
602091
Clinvar variants
Variants in LTBP2
Penetrance
None
Panels with this gene

History Filter Activity

24 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ltbp2 has been classified as Green List (High Evidence).

24 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ltbp2 has been classified as Green List (High Evidence).

24 Nov 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: LTBP2 was added gene: LTBP2 was added to Eye Anterior Segment Abnormalities. Sources: Literature Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP2 were set to Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MIM#251750 Review for gene: LTBP2 was set to GREEN