Test panel testing 2020-07-27
STR: PRSS1_CAG

Chromosome: 1
GRCh38 Position: 1234-12345
Repeated Sequence: CAG
Normal Number of Repeats: < 10
Pathogenic Number of Repeats: = or > 25

PRSS1 (protease, serine 1)
EnsemblGeneIds (GRCh38): ENSG00000204983
EnsemblGeneIds (GRCh37): ENSG00000204983
OMIM: 276000, Gene2Phenotype
PRSS1 is in 0 panels

2 reviews

Eleanor Williams (Genomics England Curator)

adding a review as curator
Created: 27 Jul 2020, 11:18 a.m. | Last Modified: 27 Jul 2020, 11:18 a.m.

Panel Version: 0.9

Created: 27 Jul 2020, 11:18 a.m.
Last Modified: 27 Jul 2020, 11:18 a.m.
Panel version: 0.9

Reviewer Test (GenomicsEnglandTesting)

Testing adding a STR
Sources: Other
Created: 27 Jul 2020, 10:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 27 Jul 2020, 10:53 a.m.

Panel version: 0.7

Details

Name

PRSS1_CAG

Chromosome

GRCh38 Coordinates

1234-12345

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

OMIM

276000

Clinvar variants

Variants in PRSS1

Penetrance

None

History Filter Activity

27 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance

Reviewer Test (GenomicsEnglandTesting)

STR: PRSS1_CAG was added STR: PRSS1_CAG was added to Test panel testing 2020-07-27. Sources: Other Mode of inheritance for STR: PRSS1_CAG was set to BIALLELIC, autosomal or pseudoautosomal

Test panel testing 2020-07-27 STR: PRSS1_CAG