Possible mitochondrial disorder - nuclear genes
Gene: HSPA9
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.Created: 16 Nov 2023, 1:20 p.m. | Last Modified: 16 Nov 2023, 1:20 p.m.
Panel Version: 3.68
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).Created: 16 Nov 2023, 1:15 p.m. | Last Modified: 16 Nov 2023, 1:16 p.m.
Panel Version: 3.65
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Even-plus syndrome, OMIM:616854; Anemia, sideroblastic, 4, OMIM:182170
Publications
>3 independent cases now reported
PMID: 26598328 describes the identification of biallelic variants in HSPA9 in three patients (two of which are siblings), with EVEN-PLUS syndrome
PMID: 32869452 reported another patient
PMID: 35779070 reported two siblings
PMID: 36052765 reported first Chinese patientCreated: 2 Nov 2023, 9:09 a.m. | Last Modified: 2 Nov 2023, 9:09 a.m.
Panel Version: 3.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Even-plus syndrome 616854
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Anemia, sideroblastic, 4, 182170; Even-plus syndrome, 616854; Also Parkinson disease association?
Comment on list classification: Discussed in the Analysis & Interpretation meeting and decided to make this red for now.Created: 25 Apr 2016, 12:18 p.m.
Comment on list classification: PMID: 26598328 describes the identification of biallelic variants in HSPA9 in three patients (two of which are siblings), with EVEN-PLUS syndrome (a proposed syndrome name), and discussed the evidence for likely effect on HSPA9 function due to its role as a mitochondrial chaperone.Created: 15 Feb 2016, 11:46 a.m.
Comment on mode of inheritance: One patient was compound heterozygous, the two siblings were homozygous for a seperate mutation. Unaffected parents were heterozygous.Created: 15 Feb 2016, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q4_23_promote_green tag was added to gene: HSPA9. Tag Q4_23_NHS_review tag was added to gene: HSPA9.
Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: HSPA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765
Publications for gene: HSPA9 were set to
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
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?