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  3. WDR73
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Genetic Epilepsy

Gene: WDR73

Green List (high evidence)
WDR73 (WD repeat domain 73)
EnsemblGeneIds (GRCh38): ENSG00000177082
EnsemblGeneIds (GRCh37): ENSG00000177082
OMIM: 616144, Gene2Phenotype
WDR73 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Galloway-Mowat syndrome is a neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome.

Multiple families reported.
Created: 19 Jan 2022, 7:51 a.m. | Last Modified: 19 Jan 2022, 7:51 a.m.
Panel Version: 0.10646

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 1 MIM#251300

Publications

Created: 19 Jan 2022, 7:51 a.m.
Last Modified: 19 Jan 2022, 7:51 a.m.
Panel version: Imported from Mendeliome panel version 0.10646

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway-Mowat syndrome 1 MIM#251300
OMIM
616144
Clinvar variants
Variants in WDR73
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300

21 May 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1 MIM#251300 to Galloway-Mowat syndrome 1 MIM#251300

21 May 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: WDR73 were set to 25466283; 26123727; 25873735; 26070982; 30315938

21 May 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: wdr73 has been classified as Green List (High Evidence).

21 May 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 MIM#251300

21 May 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: WDR73 were set to

21 May 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR73 was added gene: WDR73 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WDR73 was set to Unknown