Activity
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 | JAG2 |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: JAG2. Tag Q2_25_ NHS_review was removed from gene: JAG2. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 | JAG2 | Arina Puzriakova reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 | JAG2 |
Arina Puzriakova Source Expert Review Green was added to JAG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 | JAG2 | Achchuthan Shanmugasundram Classified gene: JAG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 | JAG2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Lauren Turton, there is sufficient evidence available (16 unrelated families) for the association of JAG2 with Limb-girdle muscular dystrophy-27 (MIM #619566). Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.3 | JAG2 | Achchuthan Shanmugasundram Gene: jag2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.2 | JAG2 | Achchuthan Shanmugasundram Phenotypes for gene: JAG2 were changed from Limb-girdle muscular dystrophy-27 (OMIM: 619566) to Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.1 | JAG2 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: JAG2. Tag Q2_25_ NHS_review tag was added to gene: JAG2. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.1 | JAG2 | Achchuthan Shanmugasundram reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33861953, 39121631, 39649397; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 | JAG2 |
Lauren Turton changed review comment from: This gene is currently green on the R79 congenital muscular dystrophy panel. PMID: 33861953 initial paper on this gene. 23 patients from 13 unrelated families. PMID: 39121631 three additional patients who presented with childhood onset limb girdle myopathy. PMID: 39649397 two additional patients presenting with childhood onset muscle hypotonia predominatly affecting the pelvic girdle and proximal leg muscles. Sources: NHS GMS; to: This gene is currently green on the R79 congenital muscular dystrophy panel. PMID: 33861953 initial paper on this gene. 23 patients from 13 unrelated families. PMID: 39121631 three additional patients who presented with childhood onset limb girdle myopathy. PMID: 39649397 two additional patients presenting with childhood onset muscle hypotonia predominantly affecting the pelvic girdle and proximal leg muscles. Sources: NHS GMS |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 | JAG2 |
Lauren Turton gene: JAG2 was added gene: JAG2 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: NHS GMS Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAG2 were set to 33861953; 39121631; 39649397 Phenotypes for gene: JAG2 were set to Limb-girdle muscular dystrophy-27 (OMIM: 619566) Review for gene: JAG2 was set to GREEN gene: JAG2 was marked as current diagnostic Added comment: This gene is currently green on the R79 congenital muscular dystrophy panel. PMID: 33861953 initial paper on this gene. 23 patients from 13 unrelated families. PMID: 39121631 three additional patients who presented with childhood onset limb girdle myopathy. PMID: 39649397 two additional patients presenting with childhood onset muscle hypotonia predominatly affecting the pelvic girdle and proximal leg muscles. Sources: NHS GMS |
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