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Glaucoma (developmental)

Gene: TP53BP2

Red List (low evidence)

TP53BP2 (tumor protein p53 binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000143514
EnsemblGeneIds (GRCh37): ENSG00000143514
OMIM: 602143, Gene2Phenotype
TP53BP2 is in 2 panels

3 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Zak: mouse model has microphthalmia/coloboma, but in humans there is only a few papers on the gene being involved in glaucoma/vitreoretinopathy. Michael- one large pedigree with adult onset glaucoma
Created: 19 Jun 2019, 3:32 p.m.

Publications

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Zak: mouse model has microphthalmia/coloboma, but in humans there is only a few papers on the gene being involved in glaucoma/vitreoretinopathy. Michael- one large pedigree with adult onset glaucoma
Created: 17 Apr 2019, 3:30 p.m.

Phenotypes
CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not a developmental glaucoma, but potentially significant to this panel
Created: 27 Apr 2017, 2:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary Open Angle Glaucoma

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Literature
Phenotypes
  • Primary Open Angle Glaucoma
OMIM
602143
Clinvar variants
Variants in TP53BP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

27 Apr 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TP53BP2 was added to Glaucoma (developmental)panel. Sources: Literature

27 Apr 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TP53BP2 was created by sleigh