GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: WDR60

WDR60 (WD repeat domain 60)
EnsemblGeneIds (GRCh38): ENSG00000126870
EnsemblGeneIds (GRCh37): ENSG00000126870
OMIM: 615462, Gene2Phenotype
WDR60 is in 10 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for WDR60 is DYNC2I1
Created: 7 May 2020, 11:06 a.m. | Last Modified: 7 May 2020, 11:06 a.m.

Panel Version: 0.32

Created: 7 May 2020, 11:06 a.m.
Last Modified: 7 May 2020, 11:06 a.m.
Panel version: 0.32

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

short ribs, short tubular bones. green - many recessive variants identified; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 8 with or without polydactyly 615503

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Short-rib thoracic dysplasia 8 with or without polydactyly 615503

Tags

new-gene-name

OMIM

615462

Clinvar variants

Variants in WDR60

Penetrance

None

Panels with this gene

History Filter Activity

7 May 2020, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: WDR60.

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: WDR60 was added gene: WDR60 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly 615503

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: WDR60