Genomics England
GMS Panels
Panels
Genes and Entities

PCDH12

protocadherin 12
OMIM: 605622
PanelMode of inheritanceDetails
3 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, seizures, spasticity, and brain calcification 251280
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
intellectual disability, microcephaly, epilepsy, perithalamic hyperechogenicity, periventricular hyperechogenicity, midbrain abnormalities, hypothalamic abnormalities, Microcephaly, seizures, spasticity, and brain calcification, 251280
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280