Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No ID reported in this condition.
Created: 4 Dec 2019, 10:18 p.m. | Last Modified: 4 Dec 2019, 10:18 p.m.
Panel Version: 0.350

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly; OMIM #615633

History Filter Activity

10 Dec 2019, 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).

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

4 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from WDR34. Source Expert list was added to WDR34. Mode of inheritance for gene WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly; OMIM #615633

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR34 was added gene: WDR34 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR34 was set to Unknown