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Rare multisystem ciliopathy disorders


Red List (low evidence)

PRKCSH (protein kinase C substrate 80K-H)
EnsemblGeneIds (GRCh38): ENSG00000130175
EnsemblGeneIds (GRCh37): ENSG00000130175
OMIM: 177060, Gene2Phenotype
PRKCSH is in 6 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Polycystic liver disease (without renal cysts) unlikely to meet entry criteria into this panel
Created: 25 Jan 2017, 2:03 p.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Red
  • Expert list
Clinvar variants
Variants in PRKCSH
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PRKCSH was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

PRKCSH was created by ellenmcdonagh