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  3. DLG5
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Ciliopathies

Gene: DLG5

Green List (high evidence)
DLG5 (discs large MAGUK scaffold protein 5)
EnsemblGeneIds (GRCh38): ENSG00000151208
EnsemblGeneIds (GRCh37): ENSG00000151208
OMIM: 604090, Gene2Phenotype
DLG5 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.
Sources: Literature
Created: 3 Aug 2020, 8:39 a.m. | Last Modified: 7 Feb 2024, 3:08 a.m.
Panel Version: 1.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Yuksel-Vogel-Bauer syndrome, MIM#620703

Publications

Created: 3 Aug 2020, 8:39 a.m.
Last Modified: 7 Feb 2024, 3:08 a.m.
Panel version: 1.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Yuksel-Vogel-Bauer syndrome, MIM#620703
OMIM
604090
Clinvar variants
Variants in DLG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLG5 were changed from Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Yuksel-Vogel-Bauer syndrome, MIM#620703

2 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations

3 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg5 has been classified as Green List (High Evidence).

3 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg5 has been classified as Green List (High Evidence).

3 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLG5 was added gene: DLG5 was added to 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