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Renal ciliopathies v3.5 DLG5 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Yuksel-Vogel-Bauser syndrome, OMIM:620703)
Renal ciliopathies v3.5 DLG5 Arina Puzriakova Phenotypes for gene: DLG5 were changed from DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic) to Yuksel-Vogel-Bauser syndrome, OMIM:620703
Renal ciliopathies v3.4 DLG5 Arina Puzriakova Tag gene-checked was removed from gene: DLG5.
Renal ciliopathies v1.64 DLG5 Sarah Leigh Tag gene-checked tag was added to gene: DLG5.
Renal ciliopathies v1.64 DLG5 Sarah Leigh Added comment: Comment on phenotypes: Phenotypes reported by Gen2Phen https://www.ebi.ac.uk/gene2phenotype/search?panel=ALL&search_term=DLG5
Renal ciliopathies v1.64 DLG5 Sarah Leigh 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)
Renal ciliopathies v1.61 DLG5 Eleanor Williams commented on gene: DLG5: 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.
Renal ciliopathies v1.61 DLG5 Eleanor Williams Tag Q3_21_MOI was removed from gene: DLG5.
Tag Q3_21_NHS_review was removed from gene: DLG5.
Renal ciliopathies v1.61 DLG5 Eleanor Williams Mode of inheritance for gene: DLG5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal ciliopathies v1.53 DLG5 Eleanor Williams Tag for-review was removed from gene: DLG5.
Renal ciliopathies v1.51 DLG5 Eleanor Williams commented on gene: DLG5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.50 DLG5 Eleanor Williams Source Expert Review Green was added to DLG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.45 DLG5 Arina Puzriakova Tag Q3_21_MOI tag was added to gene: DLG5.
Renal ciliopathies v1.42 DLG5 Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: DLG5.
Renal ciliopathies v1.42 DLG5 Eleanor Williams Classified gene: DLG5 as Amber List (moderate evidence)
Renal ciliopathies v1.42 DLG5 Eleanor Williams Added comment: 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.
Renal ciliopathies v1.42 DLG5 Eleanor Williams Gene: dlg5 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v1.40 DLG5 Julia Baptista reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32631816; Phenotypes: Cystic kidneys, hydrocephalus, retinal abnormality, cleft palate, rhizomelic limb shortening; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal ciliopathies v1.38 DLG5 Eleanor Williams Tag for review was removed from gene: DLG5.
Tag for-review tag was added to gene: DLG5.
Renal ciliopathies v1.38 DLG5 Eleanor Williams Classified gene: DLG5 as Amber List (moderate evidence)
Renal ciliopathies v1.38 DLG5 Eleanor Williams Added comment: 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.
Renal ciliopathies v1.38 DLG5 Eleanor Williams Gene: dlg5 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v1.37 DLG5 Eleanor Williams Added comment: Comment on mode of inheritance: Note, 2 reported cases with biallelic variants, 2 with monoallelic. Mouse model was biallelic knockout
Renal ciliopathies v1.37 DLG5 Eleanor Williams Mode of inheritance for gene: DLG5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.36 DLG5 Eleanor Williams Publications for gene: DLG5 were set to 32631816
Renal ciliopathies v1.35 DLG5 Eleanor Williams Tag for review tag was added to gene: DLG5.
Renal ciliopathies v1.35 DLG5 Eleanor Williams reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32631816, 17765678; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.26 DLG5 Zornitza Stark 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
Added comment: Four unrelated families reported, supportive Xenopus animal model data. Mutlisystem ciliopathy with prominent renal features.
Sources: Literature