| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.103 | MAN2B1 | Bryony Thompson Marked gene: MAN2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.103 | MAN2B1 | Bryony Thompson Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.103 | MAN2B1 | Bryony Thompson Classified gene: MAN2B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.103 | MAN2B1 | Bryony Thompson Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.102 | MAN2B1 |
Bryony Thompson gene: MAN2B1 was added gene: MAN2B1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 35242565; 34486965 Phenotypes for gene: MAN2B1 were set to alpha-mannosidosis, MONDO:0009561 Review for gene: MAN2B1 was set to GREEN Added comment: PMID 35242565 reports 12 individuals from 9 families and PMID 34486965 reports 1 individual from 1 family with autosomal recessive alpha‑mannosidosis presenting with childhood‑onset progressive ataxia, hearing loss, intellectual disability and immune deficiency. In total, 13 patients from 10 families (4 independent) carry biallelic loss‑of‑function MAN2B1 variants, including three families with truncating null alleles and one family with a missense allele (c.1061C>T) with variant‑specific functional validation. The disease is a lysosomal storage disorder with a recognisable multisystem phenotype that includes ataxia, making MAN2B1 relevant to the Ataxia panel. Sources: Literature |
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