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Severe microcephaly v6.4 DPP6 Sarah Leigh edited their review of gene: DPP6: Changed rating: AMBER
Severe microcephaly v6.4 DPP6 Sarah Leigh edited their review of gene: DPP6: Changed rating: RED
Severe microcephaly v6.4 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber.; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will made red.
Severe microcephaly v6.4 DPP6 Sarah Leigh Classified gene: DPP6 as Red List (low evidence)
Severe microcephaly v6.4 DPP6 Sarah Leigh Gene: dpp6 has been classified as Red List (Low Evidence).
Severe microcephaly v6.3 DPP6 Sarah Leigh Tag Q3_24_promote_green was removed from gene: DPP6.
Tag Q3_24_expert_review was removed from gene: DPP6.
Severe microcephaly v6.3 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber.
Severe microcephaly v6.3 DPP6 Sarah Leigh edited their review of gene: DPP6: Changed rating: AMBER
Severe microcephaly v6.3 DPP6 Sarah Leigh Deleted their comment
Severe microcephaly v6.3 DPP6 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DPP6.
Tag Q3_24_expert_review tag was added to gene: DPP6.
Severe microcephaly v6.3 DPP6 Sarah Leigh Classified gene: DPP6 as Amber List (moderate evidence)
Severe microcephaly v6.3 DPP6 Sarah Leigh Added comment: Comment on list classification: Although only two DPP6 variants have so far been associated with OMIM:616311 (PMID:23832105), I feel that the mouse model evidence from three studies provides evidence to support the association between DPP6 variants and microcephaly and intellectual disability (PMID: 21943606; 23832105; 29651237).
Severe microcephaly v6.3 DPP6 Sarah Leigh Gene: dpp6 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v6.2 DPP6 Sarah Leigh Publications for gene: DPP6 were set to 23832105
Severe microcephaly v6.1 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
Severe microcephaly v6.1 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviors characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
Severe microcephaly v6.1 DPP6 Sarah Leigh reviewed gene: DPP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v5.7 DPP6 Arina Puzriakova Phenotypes for gene: DPP6 were changed from MCPH; primary microcephaly; autosomal dominant microcephaly and mental retardation; Mental retardation, autosomal dominant 33, 616311 to Intellectual developmental disorder, autosomal dominant 33, OMIM:616311
Severe microcephaly v5.6 DPP6 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: DPP6.
Severe microcephaly v5.5 DPP6 Arina Puzriakova Source Expert Review Amber was added to DPP6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe microcephaly v5.4 DPP6 Arina Puzriakova reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v4.48 DPP6 Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: DPP6.
Tag Q4_21_rating was removed from gene: DPP6.
Severe microcephaly v2.319 DPP6 Eleanor Williams commented on gene: DPP6
Severe microcephaly v2.319 DPP6 Eleanor Williams Tag Q4_21_rating tag was added to gene: DPP6.
Severe microcephaly v2.293 DPP6 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: DPP6.
Severe microcephaly v2.267 DPP6 Ivone Leong Tag Q4_21_expert_review tag was added to gene: DPP6.
Severe microcephaly v2.20 DPP6 Zornitza Stark reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23832105; Phenotypes: Mental retardation, autosomal dominant 33 (MIM#616311); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly v1.62 DPP6 Louise Daugherty reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 DPP6 Louise Daugherty Source NHS GMS was added to DPP6.
Severe microcephaly DPP6 Rebecca Foulger classified DPP6 as green
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6
Severe microcephaly DPP6 Rebecca Foulger commented on DPP6