Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 62 actions
29 Apr 2024	Intellectual disability v5.557	OTUD7A	Achchuthan Shanmugasundram Tag gene-checked was removed from gene: OTUD7A.
16 Oct 2023	Intellectual disability v5.313	OTUD7A	Eleanor Williams commented on gene: OTUD7A
16 Oct 2023	Intellectual disability v5.313	OTUD7A	Eleanor Williams Tag gene-checked tag was added to gene: OTUD7A.
11 Oct 2023	Intellectual disability v5.299	OTUD7A	Arina Puzriakova Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
11 Oct 2023	Intellectual disability v5.298	OTUD7A	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: OTUD7A.
11 Oct 2023	Intellectual disability v5.286	OTUD7A	Arina Puzriakova reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability v5.286	OTUD7A	Arina Puzriakova Source NHS GMS was added to OTUD7A. Source Expert Review Green was added to OTUD7A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram changed review comment from: PMID:31997314 reported a patient presenting with severe global developmental delay, language impairment and epileptic encephalopathy and was identified with homozygous variant in OTUD7A gene (c.697C>T)/ p.Leu233Phe). PMID:33381903 reported a patient with profound hypotonia, severe intellectual disability, and seizures and identified with biallelic loss-of-function variants in OTUD7A: a 15q13.3 deletion including the OTUD7A locus, and a frameshift OTUD7A variant c.1125del/ p.Glu375Aspfs11. PMID:36180924 reported a patient (patient #4) presenting with severe neurodevelopmental diseases and dysmorphic features and identified with hemizygous OTUD7A frameshift variant allele c.2023_2066del/ p.D675Hfs188 in trans with the recurrent 15q13.3 BP4-BP5 deletion. OTUD7A knockout mice exhibited reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalisations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (PMID:29395075). The function evidence also suggest that OTUD7A may be the critical “driver gene” in the 15q13.3 deletion syndrome.; to: PMID:31997314 reported a patient presenting with severe global developmental delay, language impairment and epileptic encephalopathy and was identified with homozygous variant in OTUD7A gene (c.697C>T)/ p.Leu233Phe). PMID:33381903 reported a patient with profound hypotonia, severe intellectual disability, and seizures and identified with biallelic loss-of-function variants in OTUD7A: a 15q13.3 deletion including the OTUD7A locus, and a frameshift OTUD7A variant c.1125del/ p.Glu375Aspfs11. PMID:36180924 reported a patient (patient #4) presenting with severe neurodevelopmental diseases and dysmorphic features and identified with hemizygous OTUD7A frameshift variant allele c.2023_2066del/ p.D675Hfs188 in trans with the recurrent 15q13.3 BP4-BP5 deletion. OTUD7A knockout mice exhibited reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalisations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (PMID:29395075). The function evidence also suggest that OTUD7A may be the critical “driver gene” in the 15q13.3 deletion syndrome. This gene has been reported in the DD panel of Gene2Phenotype (with 'limited' rating), but has not yet been associated with phenotypes in OMIM.
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: OTUD7A.
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability v5.48	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability v5.48	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074
17 Apr 2023	Intellectual disability v5.47	OTUD7A	Achchuthan Shanmugasundram reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29395075, 31997314, 33381903, 36180924; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
08 Oct 2022	Intellectual disability v3.1737	OTUD7A	Dmitrijs Rots reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 36180924, 33381903; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jul 2020	Intellectual disability v3.132	OTUD7A	Sarah Leigh Classified gene: OTUD7A as Red List (low evidence)
02 Jul 2020	Intellectual disability v3.132	OTUD7A	Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen, Although the region ISCA-46295-Loss, which encompasses the OTUD7A locus, is associated with seizures 20236110, mental retardation 22775350, dysmorphic features, developmental delay and severe epileptic encephalopathy. PMID 31997314 report a homozygous variant in a case of severe global developmental delay, language impairment and epileptic encephalopathy; segregation and functional studies support this gene disease association.
02 Jul 2020	Intellectual disability v3.132	OTUD7A	Sarah Leigh Gene: otud7a has been classified as Red List (Low Evidence).
04 Jun 2020	Intellectual disability v3.80	OTUD7A	Zornitza Stark gene: OTUD7A was added gene: OTUD7A was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: OTUD7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074 Phenotypes for gene: OTUD7A were set to Epileptic encephalopathy, intellectual disability, no OMIM# yet Review for gene: OTUD7A was set to RED Added comment: One patient with severe global developmental delay, language impairment and epileptic encephalopathy reported. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies. Mouse model and other data support the role of this gene in neurodevelopmental phenotypes but nevertheless, single family to date. Sources: Literature