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  3. LTBP4
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Interstitial Lung Disease

Gene: LTBP4

Green List (high evidence)
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

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 10 unrelated families reported.
Animal model.
Created: 6 Nov 2021, 6:16 a.m. | Last Modified: 6 Nov 2021, 6:16 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urban-Rifkin-Davis Syndrome – cutis laxa; Infant/Childhood emphysema.

Publications

Created: 6 Nov 2021, 6:16 a.m.
Last Modified: 6 Nov 2021, 6:16 a.m.
Panel version: 0.183

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cutis laxa, autosomal recessive, type IC, MIM# 613177
  • Urban-Rifkin-Davis Syndrome – cutis laxa
  • Infant/Childhood emphysema
OMIM
604710
Clinvar variants
Variants in LTBP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ltbp4 has been classified as Green List (High Evidence).

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LTBP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LTBP4 were set to

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LTBP4 were changed from to Cutis laxa, autosomal recessive, type IC, MIM# 613177; Urban-Rifkin-Davis Syndrome – cutis laxa; Infant/Childhood emphysema

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LTBP4 was added gene: LTBP4 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LTBP4 was set to Unknown