Severe microcephaly
Gene: PCDHGC4EnsemblGeneIds (GRCh38): ENSG00000242419
EnsemblGeneIds (GRCh37): ENSG00000242419
OMIM: 606305, Gene2Phenotype
PCDHGC4 is in 4 panels
1 review
Sarah Leigh (Genomics England Curator)
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.
Sources: LiteratureCreated: 28 Sep 2021, 11:04 a.m. | Last Modified: 28 Sep 2021, 11:04 a.m.
Panel Version: 2.251
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
- OMIM
- 606305
- Clinvar variants
- Variants in PCDHGC4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PCDHGC4 were changed from Neurodevelopmental abnormality HP:0012759 to Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
Removed Tag
Sarah Leigh (Genomics England Curator)Tag gene-checked was removed from gene: PCDHGC4.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: PCDHGC4.
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_21_rating was removed from gene: PCDHGC4.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)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