1. Panels
  2. Fetal anomalies
  3. PRRT2
Genes in panel
Prev Next

Fetal anomalies

Gene: PRRT2

Red List (low evidence)
PRRT2 (proline rich transmembrane protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural. Action taken: Demoted PRRT2 gene rating from Green to Red.
Created: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION and Confirmed for BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.150

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
614386
Clinvar variants
Variants in PRRT2
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to PRRT2. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME for gene: PRRT2

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PRRT2 was added gene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION