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  2. Structural eye disease
  3. PRSS56
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Structural eye disease

Gene: PRSS56

Green List (high evidence)
PRSS56 (protease, serine 56)
EnsemblGeneIds (GRCh38): ENSG00000237412
EnsemblGeneIds (GRCh37): ENSG00000237412
OMIM: 613858, Gene2Phenotype
PRSS56 is in 5 panels

2 reviews

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

Green List (high evidence)

Patel et al. 2018 identified homozygous variants in 13 cases
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 6, 613517

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Patel et al. 2018 identified homozygous variants in 13 cases
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 6, 613517

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microphthalmia, isolated 6, 613517
OMIM
613858
Clinvar variants
Variants in PRSS56
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PRSS56. Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56 Publications for gene PRSS56 were changed from to 29450879

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PRSS56 was added gene: PRSS56 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRSS56 were set to Microphthalmia, isolated 6, 613517