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DDG2P

Gene: SNRPE

Amber List (moderate evidence)

SNRPE (small nuclear ribonucleoprotein polypeptide E)
EnsemblGeneIds (GRCh38): ENSG00000182004
EnsemblGeneIds (GRCh37): ENSG00000182004
OMIM: 128260, Gene2Phenotype
SNRPE is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059
OMIM
128260
Clinvar variants
Variants in SNRPE
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SNRPE was added gene: SNRPE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNRPE were set to 23246290; 9621144 Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059 Mode of pathogenicity for gene: SNRPE was set to Other - please provide details in the comments