Likely inborn error of metabolism

Gene: HSPA9

Green List (high evidence)

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.

Created: 10 Nov 2023, 3:36 p.m. | Last Modified: 12 Nov 2023, 12:54 p.m.

Panel Version: 4.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Even-plus syndrome, OMIM:616854

Green List (high evidence)

>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 patient

Created: 2 Nov 2023, 9:08 a.m. | Last Modified: 2 Nov 2023, 9:08 a.m.

Panel Version: 4.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Even-plus syndrome 616854

Publications

• 26598328
• 32869452
• 35779070
• 36052765

Green List (high evidence)

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.

Created: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.

Panel Version: 5.3

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.

Created: 30 Sep 2019, 1:35 p.m. | Last Modified: 30 Sep 2019, 1:35 p.m.

Panel Version: 1.330

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.

Created: 30 Sep 2019, 1:33 p.m. | Last Modified: 30 Sep 2019, 1:33 p.m.

Panel Version: 1.329

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal