1. Panels
  2. Hereditary Spastic Paraplegia - paediatric
  3. WDR48
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - paediatric

Gene: WDR48

Red List (low evidence)
WDR48 (WD repeat domain 48)
EnsemblGeneIds (GRCh38): ENSG00000114742
EnsemblGeneIds (GRCh37): ENSG00000114742
OMIM: 612167, Gene2Phenotype
WDR48 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single family reported with a homozygous in-frame deletion.
Created: 19 Apr 2020, 11:30 a.m. | Last Modified: 19 Apr 2020, 11:30 a.m.
Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia

Publications

Created: 19 Apr 2020, 11:30 a.m.
Last Modified: 19 Apr 2020, 11:30 a.m.
Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia
OMIM
612167
Clinvar variants
Variants in WDR48
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: wdr48 has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: wdr48 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: WDR48 was added gene: WDR48 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR48 were set to 24482476 Phenotypes for gene: WDR48 were set to Spastic paraplegia