Early onset or syndromic epilepsy
Gene: PCDHGC4
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 15 Jul 2021, 9:27 a.m. | Last Modified: 15 Jul 2021, 9:27 a.m.
Panel Version: 2.394
Not associated with a phenotype in OMIM, Gen2Phen or MONDO (15/7/2021). At least eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty was found in eight families and seizures were evident in four families. Four of the variants were terminating, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic.
Sources: LiteratureCreated: 15 Jul 2021, 9:22 a.m. | Last Modified: 15 Jul 2021, 9:27 a.m.
Panel Version: 2.393
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental syndrome
Publications
Tag Q3_21_rating was removed from gene: PCDHGC4.
Source Expert Review Green was added to PCDHGC4. Source NHS GMS was added to PCDHGC4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: PCDHGC4 were changed from Neurodevelopmental abnormality HP:0012759 to Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
Tag gene-checked was removed from gene: PCDHGC4.
Tag gene-checked tag was added to gene: PCDHGC4.
Phenotypes for gene: PCDHGC4 were changed from neurodevelopmental syndrome to Neurodevelopmental abnormality HP:0012759
Gene: pcdhgc4 has been classified as Amber List (Moderate Evidence).
gene: PCDHGC4 was added gene: PCDHGC4 was added to Genetic epilepsy syndromes. Sources: Literature 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 syndrome Review for gene: PCDHGC4 was set to GREEN