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  3. WDR45
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Angelman Rett like syndromes

Gene: WDR45

Green List (high evidence)
WDR45 (WD repeat domain 45)
EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

XLD.

Multiple individuals reported as part of Rett-like cohorts.
Sources: Expert list
Created: 13 Nov 2020, 10:04 a.m.

Mode of inheritance
Other

Phenotypes
Neurodegeneration with brain iron accumulation 5, MIM# 300894

Publications

Created: 13 Nov 2020, 10:04 a.m.

Panel version: 0.33

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr45 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr45 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR45 was added gene: WDR45 was added to Angelman Rett like syndromes. Sources: Expert list Mode of inheritance for gene: WDR45 was set to Other Publications for gene: WDR45 were set to 26790960; 31409060 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894 Review for gene: WDR45 was set to GREEN