Skeletal dysplasia
Gene: WDR60Added new-gene-name tag, new approved HGNC gene symbol for WDR60 is DYNC2I1Created: 7 May 2020, 11:06 a.m. | Last Modified: 7 May 2020, 11:06 a.m.
Panel Version: 2.7
short ribs, short tubular bones. green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 8 with or without polydactyly 615503
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: WDR60; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:15 p.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: WDR60.
Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503 for gene: WDR60
Source NHS GMS was added to WDR60. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Mode of inheritance for WDR60 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
WDR60 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
WDR60 was added to Unexplained skeletal dysplasiapanel. Sources:
WDR60 was created by sleigh