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| Mendeliome v1.3944 | SUPT5H | Zornitza Stark Mode of inheritance for gene: SUPT5H was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3943 | SUPT5H | Zornitza Stark edited their review of gene: SUPT5H: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3943 | SUPT5H | Zornitza Stark Marked gene: SUPT5H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3943 | SUPT5H | Zornitza Stark Gene: supt5h has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3943 | SUPT5H | Zornitza Stark Classified gene: SUPT5H as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3943 | SUPT5H | Zornitza Stark Gene: supt5h has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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