1. Panels
  2. Fetal anomalies
  3. LTBP3
Genes in panel
Prev Next

Fetal anomalies

Gene: LTBP3

Green List (high evidence)
LTBP3 (latent transforming growth factor beta binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000168056
EnsemblGeneIds (GRCh37): ENSG00000168056
OMIM: 602090, Gene2Phenotype
LTBP3 is in 7 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.10

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Recommending that the mode of inheritance should be updated to Both mono- and bi-allelic as relevant phenotypes associated with this gene are associated with both mono (geleophysic dysplasia) and biallelic (dental anomalies and short stature) variants.
Created: 2 Mar 2022, 6:08 p.m. | Last Modified: 2 Mar 2022, 6:08 p.m.
Panel Version: 1.834
Created: 2 Mar 2022, 6:08 p.m.
Last Modified: 2 Mar 2022, 6:08 p.m.
Panel version: 1.834

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
OMIM
602090
Clinvar variants
Variants in LTBP3
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI was removed from gene: LTBP3.

30 Jan 2023, Gel status: 3

Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to LTBP3. Mode of inheritance for gene LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Mar 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

2 Mar 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: LTBP3.

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: LTBP3 was added gene: LTBP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA