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  2. Anophthalmia_Microphthalmia_Coloboma
  3. PRSS56
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Anophthalmia_Microphthalmia_Coloboma

Gene: PRSS56

Green List (high evidence)
PRSS56 (protease, serine 56)
EnsemblGeneIds (GRCh38): ENSG00000237412
EnsemblGeneIds (GRCh37): ENSG00000237412
OMIM: 613858, Gene2Phenotype
PRSS56 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 28 Dec 2020, 9:16 p.m. | Last Modified: 28 Dec 2020, 9:16 p.m.
Panel Version: 0.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 6, MIM# 613517

Publications

Created: 28 Dec 2020, 9:16 p.m.
Last Modified: 28 Dec 2020, 9:16 p.m.
Panel version: 0.188

Details

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

History Filter Activity

28 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prss56 has been classified as Green List (High Evidence).

28 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRSS56 were changed from to Microphthalmia, isolated 6, MIM# 613517

28 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRSS56 were set to

28 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRSS56 was added gene: PRSS56 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRSS56 was set to Unknown