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| Mendeliome v2.79 | BPNT1 | Zornitza Stark Marked gene: BPNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.79 | BPNT1 | Zornitza Stark Gene: bpnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.79 | BPNT1 | Zornitza Stark Phenotypes for gene: BPNT1 were changed from Megaloblastic anemia MONDO:0001700, BPNT1-related to Megaloblastic anaemia MONDO:0001700, BPNT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.64 | BPNT1 | Lucy Spencer Classified gene: BPNT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.64 | BPNT1 | Lucy Spencer Gene: bpnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.63 | BPNT1 | Lucy Spencer Classified gene: BPNT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.63 | BPNT1 | Lucy Spencer Gene: bpnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.62 | BPNT1 |
Lucy Spencer gene: BPNT1 was added gene: BPNT1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BPNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BPNT1 were set to 42166360 Phenotypes for gene: BPNT1 were set to Megaloblastic anemia MONDO:0001700, BPNT1-related Review for gene: BPNT1 was set to GREEN Added comment: PMID: 42166360 reports 3 unrelated individuals with severe recurrent megaloblastic anaemia, hyperhomocysteinemia and low B12. One of the patients also had sensory ataxia, demyelination and methylmalonic acidemia. All had homozygous or compound heterozygous nonsense, frameshift or missense variants, the missense variant was shown to affect splicing. BPNT1 null mice had low plasma B12, elevated homocysteine, and ribosome biogenesis defects. Sources: Literature |
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