Cataracts

Gene: P3H2

Green List (high evidence)

P3H2 (prolyl 3-hydroxylase 2)
EnsemblGeneIds (GRCh38): ENSG00000090530
EnsemblGeneIds (GRCh37): ENSG00000090530
OMIM: 610341, Gene2Phenotype
P3H2 is in 3 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Seen in 3 unrelated families
Created: 2 Jun 2016, 1:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3

Publications

  • Guo et al (2014) Clin Genet 86:575-579
  • Khan et al (2015) Ophthalmic Genet. 36: 58-63
  • Mordechai et al (2011) Hum. Genet. 89: 438-445.

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Promoted from red to green due to expert review.
Created: 2 Jun 2016, 1:52 p.m.
Not on the Manchester congenital cataracts gene panel. Not associated with a disease in Gene2phenotype. Associated with Myopia, high, with cataract and vitreoretinal degeneration in OMIM. 2 consanguineous families (Chinese and Isreali Bedouin) reported in OMIM.
Created: 29 Apr 2016, 12:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3
OMIM
610341
Clinvar variants
Variants in P3H2
Penetrance
Complete
Publications
  • Guo et al (2014) Clin Genet 86:575-579 PMID: 24172257
  • Khan et al (2015) Ophthalmic Genet. 36: 58-63 PMID: 25469533
  • Mordechai et al (2011) Hum. Genet. 89: 438-445 PMID: 21885030
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for P3H2 were set to Guo et al (2014) Clin Genet 86:575-579 PMID: 24172257; Khan et al (2015) Ophthalmic Genet. 36: 58-63 PMID: 25469533; Mordechai et al (2011) Hum. Genet. 89: 438-445 PMID: 21885030

2 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for P3H2 was changed to BIALLELIC, autosomal or pseudoautosomal

2 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

LEPREL1* was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen