Severe microcephalyGene: PCDHGC4
Not associated with a phenotype in OMIM, Gen2Phen or MONDO (28/09/2021). At least eight variants were reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Four of the variants were terminating, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic. Progressive / secondary microcephaly was found in seven of eight families examined, with four families showing severe microcephaly (>–3 SD) and three families with mild microcephaly (<–3 SD).
Helen Brittain (Genomics England Clinical Fellow) recommended an Amber gene rating on this panel, which may change if any further cases are reported with severe microcephaly.
Created: 28 Sep 2021, 11:04 a.m. | Last Modified: 28 Sep 2021, 11:04 a.m.
Panel Version: 2.251
Tag Q3_21_rating was removed from gene: PCDHGC4.
gene: PCDHGC4 was added gene: PCDHGC4 was added to Severe microcephaly. Sources: Literature,Expert Review Amber Q3_21_rating tags were added to gene: PCDHGC4. Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDHGC4 were set to 34244665 Phenotypes for gene: PCDHGC4 were set to Neurodevelopmental abnormality HP:0012759