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BabyScreen+ newborn screening

Gene: WDR1

Green List (high evidence)

WDR1 (WD repeat domain 1)
EnsemblGeneIds (GRCh38): ENSG00000071127
EnsemblGeneIds (GRCh37): ENSG00000071127
OMIM: 604734, Gene2Phenotype
WDR1 is in 5 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong gene disease association
Phenotype is early onset immunodeficiency with infections ++ and severe stomatitis
Treatable with bone marrow transplant.
Sources: Expert list
Created: 9 Mar 2023, 9:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550
Tags
treatable immunological haematological
OMIM
604734
Clinvar variants
Variants in WDR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr1 has been classified as Green List (High Evidence).

14 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr1 has been classified as Green List (High Evidence).

14 Mar 2023, Gel status: 0

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: WDR1. Tag immunological tag was added to gene: WDR1. Tag haematological tag was added to gene: WDR1.

9 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: WDR1 was added gene: WDR1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR1 were set to PMID: 32960541, 27994071, 27557945 Phenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550 Review for gene: WDR1 was set to GREEN