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Severe microcephaly

Gene: PCDHGC4

Amber List (moderate evidence)

PCDHGC4 (protocadherin gamma subfamily C, 4)
EnsemblGeneIds (GRCh38): ENSG00000242419
EnsemblGeneIds (GRCh37): ENSG00000242419
OMIM: 606305, Gene2Phenotype
PCDHGC4 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

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: Literature
Created: 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 abnormality HP:0012759
OMIM
606305
Clinvar variants
Variants in PCDHGC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2021, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating was removed from gene: PCDHGC4.

28 Sep 2021, Gel status: 2

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