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Intellectual disability syndromic and non-syndromic

Gene: MEPCE

Red List (low evidence)

MEPCE (methylphosphate capping enzyme)
EnsemblGeneIds (GRCh38): ENSG00000146834
EnsemblGeneIds (GRCh37): ENSG00000146834
OMIM: 611478, Gene2Phenotype
MEPCE is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes.
Sources: Literature
Created: 11 Dec 2019, 10:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
no OMIM number yet

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability
  • seizures
  • no OMIM number yet
OMIM
611478
Clinvar variants
Variants in MEPCE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MEPCE were changed from no OMIM number yet to Intellectual disability; seizures; no OMIM number yet

11 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: MEPCE was added gene: MEPCE was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEPCE were set to PMID: 31467394 Phenotypes for gene: MEPCE were set to no OMIM number yet Review for gene: MEPCE was set to RED