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Intellectual disability syndromic and non-syndromic

Gene: AQP4

Amber List (moderate evidence)

AQP4 (aquaporin 4)
EnsemblGeneIds (GRCh38): ENSG00000171885
EnsemblGeneIds (GRCh37): ENSG00000171885
OMIM: 600308, Gene2Phenotype
AQP4 is in 4 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

I don't know

PMID: 37143309
Cohort patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit.

Western blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression.
Sources: Literature
Created: 3 Aug 2023, 3 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
OMIM
600308
Clinvar variants
Variants in AQP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aqp4 has been classified as Amber List (Moderate Evidence).

3 Aug 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AQP4 were changed from ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448

3 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aqp4 has been classified as Amber List (Moderate Evidence).

3 Aug 2023, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: AQP4 was added gene: AQP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AQP4 were set to 37143309 Phenotypes for gene: AQP4 were set to ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Review for gene: AQP4 was set to AMBER