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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. WDR34
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: WDR34

Red List (low evidence)
WDR34 (WD repeat domain 34)
EnsemblGeneIds (GRCh38): ENSG00000119333
EnsemblGeneIds (GRCh37): ENSG00000119333
OMIM: 613363, Gene2Phenotype
WDR34 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case report of association with RP. Gene-disease association well established for skeletal ciliopathy.
Sources: Literature
Created: 7 Jul 2021, 8:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

Created: 7 Jul 2021, 8:27 a.m.

Panel version: 0.96

History Filter Activity

7 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr34 has been classified as Red List (Low Evidence).

7 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR34 was added gene: WDR34 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR34 were set to 33124039 Phenotypes for gene: WDR34 were set to Retinitis pigmentosa Review for gene: WDR34 was set to RED