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  3. LTBP2
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Hand and foot malformations

Gene: LTBP2

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family reported with Weill-Marchesani syndrome, including brachydactyly
Created: 23 Sep 2021, 12:23 a.m. | Last Modified: 23 Sep 2021, 12:23 a.m.
Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani syndrome 3, recessive MIM#614819

Publications

Created: 23 Sep 2021, 12:23 a.m.
Last Modified: 23 Sep 2021, 12:23 a.m.
Panel version: 0.34

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants associated with isolated and syndromic congenital glaucoma.
Created: 8 Oct 2020, 12:26 a.m. | Last Modified: 8 Oct 2020, 12:26 a.m.
Panel Version: 0.4834

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glaucoma 3, primary congenital, D 613086; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750

Publications

Created: 8 Oct 2020, 12:26 a.m.
Last Modified: 8 Oct 2020, 12:26 a.m.
Panel version: Imported from Mendeliome panel version 0.4834

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani
OMIM
602091
Clinvar variants
Variants in LTBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ltbp2 has been classified as Red List (Low Evidence).

23 Sep 2021, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: LTBP2 were set to

22 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LTBP2 was added gene: LTBP2 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: LTBP2 was set to Unknown Phenotypes for gene: LTBP2 were set to Weill-Marchesani