Activity
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| Adult onset leukodystrophy v6.7 | ANXA11 | Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: ANXA11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v6.7 | ANXA11 | Achchuthan Shanmugasundram Classified gene: ANXA11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v6.7 | ANXA11 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported with ANXA11 variants and white matter abnormalities - however, all three families were identified with the same variant. What matter abnormalities were not reported in successive studies. Hence, this gene should be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v6.7 | ANXA11 | Achchuthan Shanmugasundram Gene: anxa11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v6.6 | ANXA11 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619733). OMIM was accessed on 30 September 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v6.6 | ANXA11 | Achchuthan Shanmugasundram Phenotypes for gene: ANXA11 were changed from Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 to Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v6.5 | ANXA11 |
Achchuthan Shanmugasundram gene: ANXA11 was added gene: ANXA11 was added to Adult onset leukodystrophy. Sources: Literature Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANXA11 were set to 34048612 Phenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, OMIM:619733; inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 Review for gene: ANXA11 was set to AMBER Added comment: PMID:34048612 (2021) reported 11 patients from three different Brazilian families presenting with three different phenotypes - Amyotrophic lateral sclerosis (ALS), inclusion body myopathy (hIBM), and ALS + hIBM. The patients had proximal muscle weakness of the upper and lower limbs with walking difficulties, scapular winging, and abdominal weakness, suggestive of a limb-girdle type of myopathy. Brain imaging from patients showed white matter abnormalities using diffusion tensor imaging. All the affected probands shared the same missense variant (c.118G>T/ p.Asp40Tyr) from ANXA11 gene, suggesting it could be founder variant. Although there were patients reported with variants affecting the Asp40 amino acid residue of ANXA11 gene and presenting with myopathy phenotype in successive studies (PMIDs: 36134701; 36651622; 40730020), there were no mentions of white matter abnormalities reported for these patients in these publications. Sources: Literature |
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