Limb disorders
Gene: LTBP1
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 1:37 p.m. | Last Modified: 30 Jan 2023, 1:37 p.m.
Panel Version: 3.6
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: LiteratureCreated: 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
Tag Q3_21_rating was removed from gene: LTBP1.
Source Expert Review Green was added to LTBP1. Source NHS GMS was added to LTBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: LTBP1.
Gene: ltbp1 has been classified as Amber List (Moderate Evidence).
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