Miscellaneous Metabolic Disorders
Gene: PREPLEnsemblGeneIds (GRCh38): ENSG00000138078
EnsemblGeneIds (GRCh37): ENSG00000138078
OMIM: 609557, Gene2Phenotype
PREPL is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
5 cases with isolated PREPL deficiency, 3 with hypotonia-cystinuria syndrome, and 2 with atypical hypotonia-cystinuria syndrome
Sources: LiteratureCreated: 8 Feb 2021, 4:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 609557
- Clinvar variants
- Variants in PREPL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prepl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prepl has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PREPL was added gene: PREPL was added to Miscellaneous Metabolic Disorders. Sources: Literature SV/CNV tags were added to gene: PREPL. Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 28726805; 27604308 Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport Review for gene: PREPL was set to GREEN