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DDG2P

Gene: WDR45B

Green List (high evidence)
WDR45B (WD repeat domain 45B)
EnsemblGeneIds (GRCh38): ENSG00000141580
EnsemblGeneIds (GRCh37): ENSG00000141580
OMIM: 609226, Gene2Phenotype
WDR45B is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for WDR45B-related intellectual developmental disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 28503735, 35322404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00898.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 35322404;21937992;28503735).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
WDR45B-related intellectual developmental disorder; AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
609226
Clinvar variants
Variants in WDR45B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: WDR45B was changed from Other - please provide details in the comments to None

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to WDR45B. Publications for gene: WDR45B were updated from 21937992 to 28503735; 35322404; 21937992 Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: WDR45B was added gene: WDR45B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR45B were set to 21937992 Phenotypes for gene: WDR45B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: WDR45B was set to Other - please provide details in the comments