Renal ciliopathies
Gene: DLG5Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Yuksel-Vogel-Bauser syndrome, OMIM:620703)Created: 3 Apr 2024, 11:19 a.m. | Last Modified: 3 Apr 2024, 11:19 a.m.
Panel Version: 3.5
Comment on phenotypes: Phenotypes reported by Gen2Phen https://www.ebi.ac.uk/gene2phenotype/search?panel=ALL&search_term=DLG5Created: 3 May 2022, 3:52 p.m. | Last Modified: 3 May 2022, 3:52 p.m.
Panel Version: 1.64
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cystic kidneys, hydrocephalus, retinal abnormality, cleft palate; rhizomelic limb shortening
Publications
Variants in this GENE are reported as part of current diagnostic practice
Changed the mode of inheritance to be inline with that recommended by the NHS reviewer. Removed the Q3_21_MOI and Q3_21_NHS_review tags.Created: 16 Mar 2022, 3:58 p.m. | Last Modified: 16 Mar 2022, 3:58 p.m.
Panel Version: 1.61
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
Comment on list classification: Green review from Julia Baptista (Royal Devon and Exeter NHS Foundation Trust) suggesting mode of inheritance of both biallelic and monoallelic further supports promotion to green rating.Created: 18 Aug 2021, 5:06 p.m. | Last Modified: 18 Aug 2021, 5:06 p.m.
Panel Version: 1.42
Comment on list classification: Promoting this gene from grey to amber, but it could be promoted to green following GMS review. 4 cases, 2 biallelic and 2 monoallelic so mode of inheritance should also be considered. Supportive mouse knockout model.Created: 18 Jan 2021, 10:01 a.m. | Last Modified: 18 Jan 2021, 10:01 a.m.
Panel Version: 1.38
Comment on mode of inheritance: Note, 2 reported cases with biallelic variants, 2 with monoallelic. Mouse model was biallelic knockoutCreated: 18 Jan 2021, 9:59 a.m. | Last Modified: 18 Jan 2021, 9:59 a.m.
Panel Version: 1.37
PMID: 32631816 Marquez et al 2020 - report 5 patients from 4 unrelated families with different phenotypes including those associated with ciliopathies. In 2 families, the pro bands were found by WES to be heterozygous for variants in DLG5. In the other two families, the pro bands were compound heterozygous or homozygous for variants. All variants reported are predicted to result in amino acid changes. All had a renal component to their phenotype (bilateral multicystic dysplastic kidneys, hydronephrosis, steroid resistant nephrotic syndrome, renal tubular leak and salt wasting). They found a loss of cilia in cystic kidney tissue in one patient examined. Knockdown of dlg5 in Xenopus embryos resulted in enlarged appearance of kidney tubules and they appear to have fewer cilia. 3 out of 4 tested DLG5 patient variants were ineffective in restoring proper ciliation and tissue morphology in the kidney and brain suggesting that the variants were indeed detrimental to function.
PMID: 17765678 - Nechiporuk et al 2007 - Dlg5(-/-) mice develop fully penetrant hydrocephalus and kidney cystsCreated: 18 Jan 2021, 9:58 a.m. | Last Modified: 18 Jan 2021, 9:58 a.m.
Panel Version: 1.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Four unrelated families reported, supportive Xenopus animal model data. Mutlisystem ciliopathy with prominent renal features.
Sources: LiteratureCreated: 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
Phenotypes for gene: DLG5 were changed from DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic) to Yuksel-Vogel-Bauser syndrome, OMIM:620703
Tag gene-checked was removed from gene: DLG5.
Tag gene-checked tag was added to gene: DLG5.
Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic)
Tag Q3_21_MOI was removed from gene: DLG5. Tag Q3_21_NHS_review was removed from gene: DLG5.
Mode of inheritance for gene: DLG5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag for-review was removed from gene: DLG5.
Source Expert Review Green was added to DLG5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_MOI tag was added to gene: DLG5.
Tag Q3_21_NHS_review tag was added to gene: DLG5.
Gene: dlg5 has been classified as Amber List (Moderate Evidence).
Tag for review was removed from gene: DLG5. Tag for-review tag was added to gene: DLG5.
Gene: dlg5 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: DLG5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Tag for review tag was added to gene: DLG5.
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