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| Mendeliome v1.3942 | SUPT5H |
Zornitza Stark gene: SUPT5H was added gene: SUPT5H was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SUPT5H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUPT5H were set to 40159794; 36945604; 36054783; 32589702 Phenotypes for gene: SUPT5H were set to Erythrocyte disorder, MONDO:0044347, SUPT5H-related Review for gene: SUPT5H was set to GREEN Added comment: PMID 32589702, 36054783, 36945604, 37586368, 39902717 and 40159794 collectively report >40 unrelated families with heterozygous loss‑of‑function SUPT5H variants causing a β‑thalassemia‑trait‑like phenotype (elevated HbA2, mild microcytic anemia). Variants segregate in an autosomal‑dominant pattern, LOD > 3.5 in large pedigrees, and functional assays (RNA‑splicing defects, CRISPR‑edited HSPC models) demonstrate haploinsufficiency. Sources: Literature |
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| Mendeliome v0.13568 | HBA2 | Zornitza Stark Marked gene: HBA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13568 | HBA2 | Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13568 | HBA2 | Zornitza Stark Phenotypes for gene: HBA2 were changed from to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13567 | HBA2 | Zornitza Stark Mode of inheritance for gene: HBA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13566 | HBA2 | Zornitza Stark Tag SV/CNV tag was added to gene: HBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13566 | HBA2 | Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocytosis 7, MIM# 617981, Heinz body anaemia, MIM# 140700, Haemoglobin H disease, deletional and nondeletional, MIM# 613978, Thalassaemia, alpha-, MIM# 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | HBA2 |
Zornitza Stark gene: HBA2 was added gene: HBA2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HBA2 was set to Unknown |
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