Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: PRSS56

Green List (high evidence)

PRSS56 (protease, serine 56)
EnsemblGeneIds (GRCh38): ENSG00000237412
EnsemblGeneIds (GRCh37): ENSG00000237412
OMIM: 613858, Gene2Phenotype
PRSS56 is in 6 panels

1 review

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: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA ISOLATED TYPE 6
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA ISOLATED TYPE 6
OMIM
613858
Clinvar variants
Variants in PRSS56
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PRSS56 was added gene: PRSS56 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6