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Research panel - Severe Paediatric Disorders

Gene: LTBP2

Green List (high evidence)
LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LTBP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Glaucoma 3, primary congenital, D, 613086 (3) | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) | ?Weill-Marchesani syndrome 3, recessive, 614819 (3); Mode of inheritance: ND | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Weill-Marchesani syndrome 3, recessive, 614819
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750
  • Glaucoma 3, primary congenital, D, 613086
OMIM
602091
Clinvar variants
Variants in LTBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene LTBP2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene LTBP2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Glaucoma 3, primary congenital, D, 613086 for gene: LTBP2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glaucoma 3, primary congenital, D, 613086; ?Weill-Marchesani syndrome 3, recessive, 614819; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 for gene: LTBP2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to LTBP2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to LTBP2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LTBP2 was added gene: LTBP2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: LTBP2 was set to