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Intellectual disability

Gene: WDR45B

Green List (high evidence)

WDR45B (WD repeat domain 45B)
EnsemblGeneIds (GRCh38): ENSG00000141580
EnsemblGeneIds (GRCh37): ENSG00000141580
OMIM: 609226, Gene2Phenotype
WDR45B is in 8 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Sarah Leigh (Genomics England Curator)

Not associated with phenotype in OMIM, but as a possible G2P. At least three variants have now been reported as homozygotes in at least three families, in individuals with profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Created: 12 Jun 2017, 12:53 p.m.
Comment on list classification: Additional evidence
Created: 12 Jun 2017, 10:38 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977
OMIM
609226
Clinvar variants
Variants in WDR45B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 May 2020, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: WDR45B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977

26 May 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: WDR45B were set to 21937992; 28503735

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to WDR45B.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Jun 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WDR45B were set to 21937992; 28503735

12 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR45B was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

WDR45B was created by ellenmcdonagh