Pneumothorax
Gene: LTBP4

LTBP4 (latent transforming growth factor beta binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000090006
EnsemblGeneIds (GRCh37): ENSG00000090006
OMIM: 604710, Gene2Phenotype
LTBP4 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single case of pneumothorax in a family with ARCL and biallelic variants has been reported in the literature.
Sources: Other
Created: 30 Oct 2022, 11:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170

Publications

Created: 30 Oct 2022, 11:55 p.m.

Panel version: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Other

Phenotypes

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170

OMIM

604710

Clinvar variants

Variants in LTBP4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ltbp4 has been classified as Red List (Low Evidence).

30 Oct 2022, Gel status: 1

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