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Limb disorders

Gene: LTBP1

Amber List (moderate evidence)

LTBP1 (latent transforming growth factor beta binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000049323
EnsemblGeneIds (GRCh37): ENSG00000049323
OMIM: 150390, Gene2Phenotype
LTBP1 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting from red to amber but with a recommendation for green rating following GMS review. Individuals from 3 unrelated families reported with brachydactyly as part of a broader phenotype.
Created: 28 Jul 2021, 2:55 a.m. | Last Modified: 28 Jul 2021, 2:55 a.m.
Panel Version: 2.48
Associated with Cutis laxa, autosomal recessive, type IIE #619451 (AR) in OMIM.

PMID: 33991472 - Pottie et al 2021 - report 8 individuals from 4 unrelated consanguineous families with 4 different homozygous premature truncating LTBP1 variants. Core clinical features include cutis laxa, craniosynostosis, a copper beaten calvarium, short stature, and discernible craniofacial characteristics. Brachydactyly was noted in 7/8 individuals, Clinodactyly in 7/8 individuals and Syndactyly in 5/8 individuals.
Sources: Literature
Created: 28 Jul 2021, 2:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Brachydactyly, HP:0001156; Clinodactyly, HP:0030084; Syndactyly, HP:0001159

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE, OMIM:619451
  • Brachydactyly, HP:0001156
  • Clinodactyly, HP:0030084
  • Syndactyly, HP:0001159
Tags
Q3_21_rating
OMIM
150390
Clinvar variants
Variants in LTBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2021, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: LTBP1.

28 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ltbp1 has been classified as Amber List (Moderate Evidence).

28 Jul 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: LTBP1 was added gene: LTBP1 was added to Limb disorders. 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, autosomal recessive, type IIE, OMIM:619451; Brachydactyly, HP:0001156; Clinodactyly, HP:0030084; Syndactyly, HP:0001159 Review for gene: LTBP1 was set to GREEN