Mitochondrial disorders
Gene: HSPA9Comment 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
This gene has been classified as Red List (Low Evidence).
Phenotypes for HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings
Phenotypes for HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
Mode of inheritance for HSPA9 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
HSPA9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
HSPA9 was created by [email protected]