Renal ciliopathies

Gene: DLG5

No list

DLG5 (discs large MAGUK scaffold protein 5)
EnsemblGeneIds (GRCh38): ENSG00000151208
EnsemblGeneIds (GRCh37): ENSG00000151208
OMIM: 604090, Gene2Phenotype
DLG5 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families reported, supportive Xenopus animal model data. Mutlisystem ciliopathy with prominent renal features.
Sources: Literature
Created: 4 Aug 2020, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
OMIM
604090
Clinvar variants
Variants in DLG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DLG5 was added gene: DLG5 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLG5 were set to 32631816 Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations Review for gene: DLG5 was set to GREEN gene: DLG5 was marked as current diagnostic