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  2. Cutis Laxa
  3. LTBP1
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Cutis Laxa

Gene: LTBP1

Green List (high evidence)
LTBP1 (latent transforming growth factor beta binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000049323
EnsemblGeneIds (GRCh37): ENSG00000049323
OMIM: 150390, Gene2Phenotype
LTBP1 is in 6 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature
Created: 7 Jun 2021, 6:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cutis laxa syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Jun 2021, 6:17 a.m.

Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE MIM#619451
OMIM
150390
Clinvar variants
Variants in LTBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451

7 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: ltbp1 has been classified as Green List (High Evidence).

7 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: ltbp1 has been classified as Green List (High Evidence).

7 Jun 2021, Gel status: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: LTBP1 was added gene: LTBP1 was added to Cutis Laxa. Sources: Literature Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to cutis laxa syndrome Review for gene: LTBP1 was set to GREEN gene: LTBP1 was marked as current diagnostic