Corneal abnormalities

Gene: PIK3R1

Green List (high evidence)

PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be promoted to green.
Created: 22 Feb 2017, 11:14 a.m.

Chris Campbell (NHS)

Green List (high evidence)

Reiger anomaly analysis assiciated with SHORT
Created: 7 Feb 2017, 5:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SHORT syndrome (AD) - Reiger anomaly

Publications

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

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

22 Feb 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PIK3R1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PIK3R1 were set to SHORT syndrome 269880

22 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PIK3R1 were set to 23810378

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

19 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3R1 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel

19 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PIK3R1 was created by ellenmcdonagh