PREPL

prolyl endopeptidase like
OMIM: 609557, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PREPL in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome Disorders of amino acid transport
Green PREPL in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Literature Phenotypes Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome
Red PREPL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myasthenic syndrome, congenital, 22, MIM#616224
Amber PREPL in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency ?Myasthenic syndrome, congenital, 22, 616224
Green PREPL in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia-cystinuria syndrome premature ovarian failure
Red PREPL in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hypotonia - cystinuria syndrome
Green PREPL in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome Disorders of amino acid transport Tags SV/CNV
Amber PREPL in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Myasthenic syndrome, congenital, 22, MIM#616224 Hypotonia-cystinuria syndrome
Red PREPL in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red BeginNGS Phenotypes Hypotonia - cystinuria syndrome Myasthenic syndrome, congenital, 22, MIM# 616224
Green PREPL in Infertility and Recurrent Pregnancy Loss Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 22, MIM# 616224 Hypergonadotropic hypogonadism