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Prepair 1000+

Gene: WDR60

Green List (high evidence)

WDR60 (WD repeat domain 60)
EnsemblGeneIds (GRCh38): ENSG00000126870
EnsemblGeneIds (GRCh37): ENSG00000126870
OMIM: 615462, Gene2Phenotype
WDR60 is in 11 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Approved HGNC symbol: DYNC2I1
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterised by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Other non-skeletal involvement can include cleft lip/palate and anomalies of organs brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Can be neonatal onset and report of lethality in PMID: 23910462.
Four unrelated families reported, three with skeletal ciliopathy and one with RP and polydactyly only.
Mouse model is present and lethality reported (PMID: 37228654).
Created: 14 Oct 2024, 3:38 a.m. | Last Modified: 14 Oct 2024, 3:38 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
OMIM
615462
Clinvar variants
Variants in WDR60
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: wdr60 has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: WDR60 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR60 was added gene: WDR60 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)