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  3. WDR4
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Intellectual disability syndromic and non-syndromic

Gene: WDR4

Green List (high evidence)
WDR4 (WD repeat domain 4)
EnsemblGeneIds (GRCh38): ENSG00000160193
EnsemblGeneIds (GRCh37): ENSG00000160193
OMIM: 605924, Gene2Phenotype
WDR4 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Borderline Green rating: three families but two have the same homozygous variant; some functional data to support gene-disease association.
Created: 3 Mar 2020, 10:48 p.m. | Last Modified: 3 Mar 2020, 10:48 p.m.
Panel Version: 0.2355
Created: 3 Mar 2020, 10:48 p.m.
Last Modified: 3 Mar 2020, 10:48 p.m.
Panel version: 0.2355

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Galloway-Mowat syndrome 6, OMIM #618347:

1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed.

1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed.
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Microcephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:

2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis.
Sources: Expert list
Created: 12 Feb 2020, 4:31 a.m. | Last Modified: 12 Feb 2020, 4:32 a.m.
Panel Version: 0.2138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 6, OMIM #618347; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346

Publications

Created: 12 Feb 2020, 4:31 a.m.
Last Modified: 12 Feb 2020, 4:32 a.m.
Panel version: 0.2137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 6, OMIM #618347
  • Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346
OMIM
605924
Clinvar variants
Variants in WDR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr4 has been classified as Green List (High Evidence).

3 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr4 has been classified as Green List (High Evidence).

3 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WDR4 were set to PubMed: 26416026, 30079490, 29597095, 28617965

12 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: wdr4 has been classified as Green List (High Evidence).

12 Feb 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: WDR4 was added gene: WDR4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR4 were set to PubMed: 26416026, 30079490, 29597095, 28617965 Phenotypes for gene: WDR4 were set to Galloway-Mowat syndrome 6, OMIM #618347; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346 Review for gene: WDR4 was set to GREEN