Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: PRCD

Green List (high evidence)

PRCD (photoreceptor disc component)
EnsemblGeneIds (GRCh38): ENSG00000214140
EnsemblGeneIds (GRCh37): ENSG00000214140
OMIM: 610598, Gene2Phenotype
PRCD is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families and functional data, including dog model.
Created: 19 Apr 2022, 1:14 a.m. | Last Modified: 19 Apr 2022, 1:14 a.m.
Panel Version: 0.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 36, MIM# 610599

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 36, MIM# 610599
OMIM
610598
Clinvar variants
Variants in PRCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prcd has been classified as Green List (High Evidence).

19 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRCD were changed from Retinitis pigmentosa 36, 610599 to Retinitis pigmentosa 36, MIM# 610599

19 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRCD were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRCD was added gene: PRCD was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRCD were set to Retinitis pigmentosa 36, 610599