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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.68 | DNMT3B |
Bryony Thompson gene: DNMT3B was added gene: DNMT3B was added to Limb Girdle Muscular Dystrophy. Sources: Literature Mode of inheritance for gene: DNMT3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNMT3B were set to 27153398; 33004076 Phenotypes for gene: DNMT3B were set to Facioscapulohumeral muscular dystrophy MONDO:0001347 Review for gene: DNMT3B was set to AMBER Added comment: FSHD shares some features with LGMD. Two families reported with FSHD2. In one family carriers of the heterozygous DNMT3B missense variant (c.1579T>C) had reduced DNA methylation levels at the D4Z4 repeat array and were more likely to develop FSHD in comparison to other family members carrying an identical permissive 4qA allele of 9 D4Z4 units. In the other family, digenic inheritance of a heterozygous DNMT3B missense variant (c.2072C>T) and a permissive 4qA allele of 13 D4Z4 units induced hypomethylation at the D4Z4 repeat array but only one of the two family members was diagnosed with FSHD. A mouse model with an in-frame deletion (similar to the reported missense variants) does not induce a skeletal muscle pathology nor does it increase the extremely low DUX4 transcript levels in skeletal muscles of a FSHD transgenic mouse. The mouse model also suggested that Smchd1 may have a more potent role in DUX4 derepression than Dnmt3b. Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.65 | SMCHD1 | Bryony Thompson Marked gene: SMCHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.65 | SMCHD1 | Bryony Thompson Gene: smchd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.65 | SMCHD1 | Bryony Thompson Classified gene: SMCHD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.65 | SMCHD1 | Bryony Thompson Gene: smchd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.64 | SMCHD1 |
Bryony Thompson gene: SMCHD1 was added gene: SMCHD1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMCHD1 were set to 20301616 Phenotypes for gene: SMCHD1 were set to Facioscapulohumeral muscular dystrophy MONDO:0001347 Review for gene: SMCHD1 was set to GREEN gene: SMCHD1 was marked as current diagnostic Added comment: FSHD can have overlapping features with LGMD Sources: Expert list |
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