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Intellectual disability

Gene: PCDHGC4

Amber List (moderate evidence)

PCDHGC4 (protocadherin gamma subfamily C, 4)
EnsemblGeneIds (GRCh38): ENSG00000242419
EnsemblGeneIds (GRCh37): ENSG00000242419
OMIM: 606305, Gene2Phenotype
PCDHGC4 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 15 Jul 2021, 9:26 a.m. | Last Modified: 15 Jul 2021, 9:26 a.m.
Panel Version: 3.1195
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: Literature
Created: 15 Jul 2021, 9:22 a.m. | Last Modified: 15 Jul 2021, 9:27 a.m.
Panel Version: 3.1195

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental syndrome
Tags
Q3_21_rating
OMIM
606305
Clinvar variants
Variants in PCDHGC4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pcdhgc4 has been classified as Amber List (Moderate Evidence).

15 Jul 2021, Gel status: 1

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 Intellectual disability. 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