Skeletal dysplasia
Gene: LTBP1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 6 Mar 2022, 6:30 p.m. | Last Modified: 6 Mar 2022, 6:30 p.m.
Panel Version: 2.184
Short stature was noted in 8/8 (100%) and Genua vara (bow-leggedness) in 3/8 (37.5) of the patients reported in PMID:33991472Created: 28 Jul 2021, 2:32 a.m. | Last Modified: 28 Jul 2021, 2:47 a.m.
Panel Version: 2.110
Comment on phenotypes: OMIM phenotype added 28-07-2021Created: 28 Jul 2021, 2:25 a.m. | Last Modified: 28 Jul 2021, 2:25 a.m.
Panel Version: 2.110
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 18 May 2021, 10:37 a.m. | Last Modified: 18 May 2021, 10:37 a.m.
Panel Version: 2.99
Not associated with relevant phenotype in OMIM or Gen2Phen (as of 18/05/20210). At least four terminating variants were reported in unrelated cases. Supportive in vitro and in vivo studies demonstrate the role of LTBP1 in skin and bone ECM assembly and homeostasis, in human and zebrafish (PMID 33991472).
Sources: LiteratureCreated: 18 May 2021, 10:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
inherited cutis laxa MONDO:0100237
Publications
Tag Q2_21_rating was removed from gene: LTBP1.
Source Expert Review Green was added to LTBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: LTBP1 were changed from inherited cutis laxa MONDO:0100237 to inherited cutis laxa MONDO:0100237; Cutis laxa, autosomal recessive, type IIE, OMIM:619451
Gene: ltbp1 has been classified as Amber List (Moderate Evidence).
gene: LTBP1 was added gene: LTBP1 was added to Skeletal dysplasia. Sources: Literature Q2_21_rating tags were added to gene: LTBP1. 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 inherited cutis laxa MONDO:0100237 Review for gene: LTBP1 was set to GREEN