Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Epileptic encephalopathy

Gene: PCDH12

Red List (low evidence)

PCDH12 (protocadherin 12)
EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was added and reviewed by an external reviewer as red to the Epilepsy Plus gene panel on 10th May 2017. One study reporting multiple consanguineous families with the same founder mutation, for a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.
Created: 18 Dec 2017, 12:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Cristina Dias (The Francis Crick Institute)

Red List (low evidence)

4 consanguineous families with the same mutation (c.2515C.T, p.R839X) described by Aran et al (2016) Neurology 86(21):2016-2024.
Created: 10 May 2017, 9:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities

Publications

History Filter Activity

18 Dec 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PCDH12 were set to intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PCDH12 was added to Epileptic encephalopathy panel. Sources: Expert Review

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PCDH12 was created by Ellen McDonagh