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  3. PCDHGC4
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Fetal anomalies

Gene: PCDHGC4

Amber List (moderate evidence)
PCDHGC4 (protocadherin gamma subfamily C, 4)
EnsemblGeneIds (GRCh38): ENSG00000242419
EnsemblGeneIds (GRCh37): ENSG00000242419
OMIM: 606305, Gene2Phenotype
PCDHGC4 is in 5 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

19 individuals from 9 families. ID gene. 3 ulnar club hand (all sibs), 2 talipes, 3 athrogryposis
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
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

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: PCDHGC4 was added gene: PCDHGC4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS 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 disorder with poor growth and skeletal anomalies, OMIM:619880