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Skeletal dysplasia

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

2 reviews

Eleanor Williams (Genomics England Curator)

Short stature was noted in 8/8 (100%) and Genua vara (bow-leggedness) in 3/8 (37.5) of the patients reported in PMID:33991472
Created: 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 28-07-2021
Created: 28 Jul 2021, 2:25 a.m. | Last Modified: 28 Jul 2021, 2:25 a.m.
Panel Version: 2.110

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 18 May 2021, 10:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inherited cutis laxa MONDO:0100237

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • inherited cutis laxa MONDO:0100237
  • Cutis laxa, autosomal recessive, type IIE, OMIM:619451
Tags
Q2_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

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

18 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 May 2021, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

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