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Intellectual disability syndromic and non-syndromic

Gene: PREPL

Red List (low evidence)

PREPL (prolyl endopeptidase-like)
EnsemblGeneIds (GRCh38): ENSG00000138078
EnsemblGeneIds (GRCh37): ENSG00000138078
OMIM: 609557, Gene2Phenotype
PREPL is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Median reported IQ70, mostly a neuromuscular disorder.
Created: 9 Dec 2019, 12:30 a.m. | Last Modified: 9 Dec 2019, 12:30 a.m.
Panel Version: 0.1000

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 22, MIM#616224

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Myasthenic syndrome, congenital, 22, MIM#616224
OMIM
609557
Clinvar variants
Variants in PREPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prepl has been classified as Red List (Low Evidence).

9 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PREPL were changed from to Myasthenic syndrome, congenital, 22, MIM#616224

9 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PREPL were set to

9 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PREPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prepl has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PREPL was added gene: PREPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PREPL was set to Unknown