| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial disease v0.1116 | HSPA9 | Zornitza Stark Marked gene: HSPA9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1116 | HSPA9 | Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1116 | HSPA9 | Zornitza Stark Phenotypes for gene: HSPA9 were changed from even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control to Anaemia, sideroblastic, 4, MIM# 182170; Even-plus syndrome, MIM# 616854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1115 | HSPA9 | Zornitza Stark Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1114 | HSPA9 | Zornitza Stark Mode of inheritance for gene: HSPA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1113 | HSPA9 | Zornitza Stark changed review comment from: HSPA9 is a mitochondrial chaperone. Well established association with sideroblastic anaemia and Even-plus syndrome which is characterised by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis.; to: HSPA9 is a mitochondrial chaperone. Established association between mono-allelic variants and sideroblastic anaemia and between biallelic variants and Even-plus syndrome. The latter is characterised by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1113 | HSPA9 | Zornitza Stark edited their review of gene: HSPA9: Changed publications: 26491070, 39196378, 36094340, 38284453, 38281662, 35779070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1113 | HSPA9 | Zornitza Stark reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, sideroblastic, 4, MIM# 182170, Even-plus syndrome, MIM# 616854; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.923 | HSPA9 |
Bryony Thompson gene: HSPA9 was added gene: HSPA9 was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328 Phenotypes for gene: HSPA9 were set to even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||