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Likely inborn error of metabolism v9.32 HSPA9 Ida Ertmanska Phenotypes for gene: HSPA9 were changed from Even-plus syndrome, OMIM:616854 to Anemia, sideroblastic, 4, OMIM:182170; sideroblastic anemia, MONDO:0015194; Even-plus syndrome, OMIM:616854; even-plus syndrome, MONDO:0014801
Likely inborn error of metabolism v9.31 HSPA9 Ida Ertmanska Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765
Likely inborn error of metabolism v9.30 HSPA9 Ida Ertmanska Tag Q3_26_MOI tag was added to gene: HSPA9.
Likely inborn error of metabolism v9.30 HSPA9 Ida Ertmanska commented on gene: HSPA9: Comment on mode of inheritance: As reviewed previously, there are more than 3 unrelated cases are reported with biallelic HSPA9 variants and EVEN-PLUS syndrome. There are also several individuals reported in literature with HSPA9 variants and sideroblastic anemia (syndromic or non-syndromic). Most cases harboured a rare null or severe missense variant, as well as a het/hom rs10117T, (p.Leu645=) common variant, which has been shown to reduce HSPA9 protein expression to 80% of WT in a homozygous state. Hence, a pseudodominant mode of inheritance was assigned to these pedigrees. There are also 2 recessive cases reported with rare biallelic HSPA9 variants and CSA (Families K & L in PMID: 26491070). While a single heterozygous mutation in HSPA9 is not sufficient to cause disease, these may warrant further investigation of the haplotype. Both EVEN-PLUS syndrome and Sideroblastic anemia stem from mitochondrial dysfunction. Hence, the mode of inheritance should be changed to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' at the next update.
Likely inborn error of metabolism v9.30 HSPA9 Ida Ertmanska reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25550197, 26491070, 30401706, 33398880, 36094340, 38360212; Phenotypes: Anemia, sideroblastic, 4, OMIM:182170, sideroblastic anemia, MONDO:0015194, Even-plus syndrome, OMIM:616854, even-plus syndrome, MONDO:0014801; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 HSPA9 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HSPA9.
Tag Q4_23_NHS_review was removed from gene: HSPA9.
Likely inborn error of metabolism v5.3 HSPA9 Sarah Leigh edited their review of gene: HSPA9: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.2 HSPA9 Achchuthan Shanmugasundram Source Expert Review Green was added to HSPA9.
Source NHS GMS was added to HSPA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v4.74 HSPA9 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Likely inborn error of metabolism v4.74 HSPA9 Achchuthan Shanmugasundram Classified gene: HSPA9 as Amber List (moderate evidence)
Likely inborn error of metabolism v4.74 HSPA9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Likely inborn error of metabolism v4.74 HSPA9 Achchuthan Shanmugasundram Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v4.73 HSPA9 Achchuthan Shanmugasundram Phenotypes for gene: HSPA9 were changed from Even-plus syndrome, OMIM:616854 to Even-plus syndrome, OMIM:616854
Likely inborn error of metabolism v4.72 HSPA9 Achchuthan Shanmugasundram Phenotypes for gene: HSPA9 were changed from Even-plus syndrome 616854 to Even-plus syndrome, OMIM:616854
Likely inborn error of metabolism v4.71 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765
Likely inborn error of metabolism v4.71 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765
Likely inborn error of metabolism v4.70 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to PMID: 26598328
Likely inborn error of metabolism v4.69 HSPA9 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HSPA9.
Tag Q4_23_NHS_review tag was added to gene: HSPA9.
Likely inborn error of metabolism v4.69 HSPA9 Achchuthan Shanmugasundram reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Even-plus syndrome, OMIM:616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.55 HSPA9 Hannah Knight reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26598328, 32869452, 35779070, 36052765; Phenotypes: Even-plus syndrome 616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.330 HSPA9 Sarah Leigh Added comment: Comment on phenotypes: EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia;Epiphyseal, Vertebral, Ear, Nose, plus associated findings.
Monoallelic variants reported in Anemia, sideroblastic, 4 182170.
Likely inborn error of metabolism v1.330 HSPA9 Sarah Leigh Phenotypes for gene: HSPA9 were changed from EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings to Even-plus syndrome 616854
Likely inborn error of metabolism v1.329 HSPA9 Sarah Leigh Classified gene: HSPA9 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.329 HSPA9 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated cases.
Likely inborn error of metabolism v1.329 HSPA9 Sarah Leigh Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v0.4 HSPA9 Ellen McDonagh gene: HSPA9 was added
gene: HSPA9 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to PMID: 26598328
Phenotypes for gene: HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings