BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: PCDH19

PCDH19 (protocadherin 19)
EnsemblGeneIds (GRCh38): ENSG00000165194
EnsemblGeneIds (GRCh37): ENSG00000165194
OMIM: 300460, Gene2Phenotype
PCDH19 is in 4 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; omim_20150205_epilepsies; sfari_20150206; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:43 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epileptic encephalopathy, early infantile, 9, 300088

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:43 p.m.

Panel version: 0.2

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

BRIDGE

Phenotypes

Epileptic encephalopathy, early infantile, 9, 300088

OMIM

300460

Clinvar variants

Variants in PCDH19

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PCDH19 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source