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Possible mitochondrial disorder, nuclear genes v5.25 HSPA9 Ida Ertmanska Phenotypes for gene: HSPA9 were changed from Even-plus syndrome, OMIM:616854; Anemia, sideroblastic, 4, OMIM:182170 to Anemia, sideroblastic, 4, OMIM:182170; sideroblastic anemia, MONDO:0015194; Even-plus syndrome, OMIM:616854; even-plus syndrome, MONDO:0014801
Possible mitochondrial disorder, nuclear genes v5.24 HSPA9 Ida Ertmanska Publications for gene: HSPA9 were set to 26491070; 26598328; 32869452; 35779070; 36052765
Possible mitochondrial disorder, nuclear genes v5.23 HSPA9 Ida Ertmanska Tag Q3_26_MOI tag was added to gene: HSPA9.
Possible mitochondrial disorder, nuclear genes v5.23 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.
Possible mitochondrial disorder, nuclear genes v5.23 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
Possible mitochondrial disorder, nuclear genes v3.113 HSPA9 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HSPA9.
Tag Q4_23_NHS_review was removed from gene: HSPA9.
Possible mitochondrial disorder, nuclear genes v3.113 HSPA9 Achchuthan Shanmugasundram commented on gene: HSPA9: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Possible mitochondrial disorder, nuclear genes v3.112 HSPA9 Achchuthan Shanmugasundram Source Expert Review Green was added to HSPA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v3.68 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.
Possible mitochondrial disorder, nuclear genes v3.68 HSPA9 Achchuthan Shanmugasundram Classified gene: HSPA9 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v3.68 HSPA9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of biallelic variants in HSPA9 gene to Even-plus syndrome. Hence, this gene should be promoted to green rating in the next GMS review.
Possible mitochondrial disorder, nuclear genes v3.68 HSPA9 Achchuthan Shanmugasundram Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.67 HSPA9 Achchuthan Shanmugasundram Mode of inheritance for gene: HSPA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.66 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765
Possible mitochondrial disorder, nuclear genes v3.65 HSPA9 Achchuthan Shanmugasundram changed review comment from: As reviewed by Hannah Knight, there are more than three unrelated cases identified with biallelic HSPA9 variants and reported with Even-plus syndrome (MIM #616854).

However, there are only two unrelated families identified with monoallelic HSPA9 variants and reported with sideroblastic anemia-4 (PMID:26491070).; to: As reviewed by Hannah Knight, there are more than three unrelated cases identified with biallelic HSPA9 variants and reported with Even-plus syndrome (MIM #616854).

However, there are only two unrelated families identified with monoallelic HSPA9 variants and reported with sideroblastic anemia-4 (MIM #182170) (PMID:26491070).
Possible mitochondrial disorder, nuclear genes v3.65 HSPA9 Achchuthan Shanmugasundram reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26491070, 26598328, 32869452, 35779070, 36052765; Phenotypes: Even-plus syndrome, OMIM:616854, Anemia, sideroblastic, 4, OMIM:182170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.65 HSPA9 Achchuthan Shanmugasundram Deleted their review
Possible mitochondrial disorder, nuclear genes v3.65 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to
Possible mitochondrial disorder, nuclear genes v3.64 HSPA9 Achchuthan Shanmugasundram Phenotypes for gene: HSPA9 were changed from Even-plus syndrome, 616854; Anemia, sideroblastic, 4, 182170; Also Parkinson disease association? to Even-plus syndrome, OMIM:616854; Anemia, sideroblastic, 4, OMIM:182170
Possible mitochondrial disorder, nuclear genes v3.63 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
Possible mitochondrial disorder, nuclear genes v3.51 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
Possible mitochondrial disorder, nuclear genes v0.5 HSPA9 Ivone Leong reviewed gene: HSPA9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 4, 182170, Even-plus syndrome, 616854, Also Parkinson disease association?; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.4 HSPA9 Ivone Leong gene: HSPA9 was added
gene: HSPA9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HSPA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HSPA9 were set to Even-plus syndrome, 616854; Anemia, sideroblastic, 4, 182170; Also Parkinson disease association?