| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital myopathy v4.15 | DNAJB4 | Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: DNAJB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.13 | DNAJB4 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: DNAJB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.13 | DNAJB4 | Achchuthan Shanmugasundram Publications for gene: DNAJB4 were set to PMID: 36264506 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.12 | DNAJB4 | Achchuthan Shanmugasundram Classified gene: DNAJB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.12 | DNAJB4 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence (three unrelated cases and functional evidence from mouse models) for promoting this gene to GREEN at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with 'limited' rating. |
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| Congenital myopathy v4.12 | DNAJB4 | Achchuthan Shanmugasundram Gene: dnajb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.2 | DNAJB4 |
Anna Sarkozy gene: DNAJB4 was added gene: DNAJB4 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB4 were set to PMID: 36264506 Phenotypes for gene: DNAJB4 were set to congenital myopathy with early respiratory failure Penetrance for gene: DNAJB4 were set to unknown Mode of pathogenicity for gene: DNAJB4 was set to Other Review for gene: DNAJB4 was set to GREEN Added comment: biallelic variants in DNAJB4 gene have now been described in three unrelated families, in particular stop gain and missense variants. the phenotype is characterised by axial rigidity and early respiratory failure between the 1st and 4th decade of life. muscle pathology is myopathic with protein inclusions and occasional rimmed vacuoles. Sources: Literature |
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