PREPL

prolyl endopeptidase-like
OMIM: 609557, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red PREPL in Congenital myaesthenic syndrome Level 2: Neurology Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Literature Phenotypes myasthenic syndrome congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency ?Myasthenic syndrome, congenital, 22, 616224 Tags polygenic treatable deletions
Red PREPL in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Hypotonia-cystinuria syndrome 606407 Tags deletions
Red PREPL in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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)
Amber PREPL in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes HYPOTONIA-CYSTINURIA SYNDROME
Green PREPL in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes HYPOTONIA-CYSTINURIA SYNDROME 606407
Red PREPL in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Hypotonia-cystinuria syndrome, 606407 HCS 2p21 deletion syndrome Intellectual disability