White matter disorders and cerebral calcification - childhood onset
Gene: PCDH12
PCDH12 (protocadherin 12)
EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- microcephaly
- intellectual disability
- perithalamic hyperechogenicity
- hypothalamic abnormalities
- periventricular hyperechogenicity
- epilepsy
- midbrain abnormalities
- OMIM
- 605622
- Clinvar variants
- Variants in PCDH12
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- Severe microcephaly
- Intracerebral calcification disorders
- Hereditary spastic paraplegia, adult onset
- Early onset dystonia
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia, childhood onset
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PCDH12 was added gene: PCDH12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683 Phenotypes for gene: PCDH12 were set to microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities