Microcephaly
Gene: PCDH12EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported.Created: 2 Sep 2020, 11:06 a.m. | Last Modified: 2 Sep 2020, 11:06 a.m.
Panel Version: 0.359
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
- OMIM
- 605622
- Clinvar variants
- Variants in PCDH12
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PCDH12 were changed from DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PCDH12 were set to 27164683; 22822038
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcdh12 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: pcdh12 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: PCDH12 was added gene: PCDH12 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683; 22822038 Phenotypes for gene: PCDH12 were set to DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 Penetrance for gene: PCDH12 were set to Complete Review for gene: PCDH12 was set to GREEN