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Inborn errors of metabolism

Gene: PREPL

Red List (low evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Added 'deletions' tag.
Created: 1 Mar 2017, 12:07 p.m.

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM and as a probable G2P. 9 unrelated families affected with HCS - PMID: 16385448 , mouse model supports role of this gene PMID 24610330. Rated red because only one defined variant reported, the remainder are large deletions that include the PREPL gene.
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia-cystinuria syndrome 606407

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hypotonia-cystinuria syndrome 606407
  • Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
OMIM
609557
Clinvar variants
Variants in PREPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PREPL. Source London North GLH was added to PREPL.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PREPL was added gene: PREPL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 27604308 Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome 606407; Hypotonia-cystinuria syndrome (Disorders of amino acid transport)