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Intellectual disability

Gene: PREPL

Red List (low evidence)

PREPL (prolyl endopeptidase-like)
EnsemblGeneIds (GRCh38): ENSG00000138078
EnsemblGeneIds (GRCh37): ENSG00000138078
OMIM: 609557, Gene2Phenotype
PREPL is in 7 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

HCS is a contiguous gene syndrome caused by 23.8-75.5kb deletion containing the genes SLC3A1 and PREPL .
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia-cystinuria syndrome, 606407; HCS; 2p21 deletion syndrome; Intellectual disability

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HYPOTONIA-CYSTINURIA SYNDROME

Publications

  • 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Hypotonia-cystinuria syndrome, 606407
  • HCS
  • 2p21 deletion syndrome
  • Intellectual disability
OMIM
609557
Clinvar variants
Variants in PREPL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PREPL.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene PREPL was set to ['18234729', '16385448', '24610330']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PREPL was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PREPL was created by ellenmcdonagh