Severe microcephaly
Gene: PCDH12The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 16 Sep 2021, 10:54 a.m. | Last Modified: 16 Sep 2021, 10:54 a.m.
Panel Version: 2.231
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.
Sources: Expert listCreated: 2 Sep 2020, 11:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Publications
Tag Q3_21_rating was removed from gene: PCDH12.
Source Expert Review Green was added to PCDH12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pcdh12 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: PCDH12.
Phenotypes for gene: PCDH12 were changed from Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280
gene: PCDH12 was added gene: PCDH12 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683; 22822038; 30178464 Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Review for gene: PCDH12 was set to GREEN