Activity
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| Congenital muscular dystrophy v3.63 | JAG2 | Arina Puzriakova Phenotypes for gene: JAG2 were changed from muscular dystrophy, MONDO:0020121 to Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v3.22 | JAG2 | Eleanor Williams Tag Q2_21_rating was removed from gene: JAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v3.22 | JAG2 | Eleanor Williams commented on gene: JAG2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v3.21 | JAG2 |
Eleanor Williams Source Expert Review Green was added to JAG2. Source NHS GMS was added to JAG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital muscular dystrophy v2.31 | POGLUT1 | Anna Sarkozy changed review comment from: in addition to adult-onset LGMD R21 (OMIM# 617232), biallelic variants in POGLUT1 gene have been reported in one patient with congenital muscular dystrophy and in two further patients with onset before 3 years of age. The presenting symptom were hypotonia with lower limb proximal weakness after gait acquisition, and further progression with mild weakness, wasting and contractures of the upper limbs, mild facial weakness, ptosis, and nasal voice. weakness was more severe and had faster progression compared to later onset patients. Muscle biopsies shows evidence of α-dystroglycan hypoglycosylation. POGLUT1 activity is critical for the Notch signaling pathway, as JAG2. Inview of these evidences, this gene should be considered green for CMD panel as well, in addition to LGMD panel.; to: in addition to adult-onset LGMD R21 (OMIM# 617232), biallelic variants in POGLUT1 gene have been reported in one patient with congenital muscular dystrophy and in two further patients with onset before 3 years of age. The presenting symptom were hypotonia with lower limb proximal weakness after gait acquisition, and further progression with mild weakness, wasting and contractures of the upper limbs, mild facial weakness, ptosis, and nasal voice. weakness was more severe and had faster progression compared to later onset patients. Muscle biopsies show evidence of α-dystroglycan hypoglycosylation. POGLUT1 activity is critical for the Notch signalling pathway, as JAG2. In view of these evidences, this gene should be considered green for CMD panel as well, in addition to LGMD panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.31 | JAG2 | Anna Sarkozy reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33861953; Phenotypes: muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.10 | JAG2 | Eleanor Williams Classified gene: JAG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.10 | JAG2 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for a green rating at the next review. 13 cases reported with muscular dystrophy and variants in JAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.10 | JAG2 | Eleanor Williams Gene: jag2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.9 | JAG2 | Eleanor Williams Tag Q2_21_rating tag was added to gene: JAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.9 | JAG2 | Eleanor Williams Phenotypes for gene: JAG2 were changed from muscular dystrophy to muscular dystrophy, MONDO:0020121 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.8 | JAG2 | Eleanor Williams reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33861953; Phenotypes: muscular dystrophy, MONDO:0020121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.8 | JAG2 |
Zornitza Stark gene: JAG2 was added gene: JAG2 was added to Congenital muscular dystrophy. Sources: Literature Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAG2 were set to 33861953 Phenotypes for gene: JAG2 were set to muscular dystrophy Review for gene: JAG2 was set to GREEN gene: JAG2 was marked as current diagnostic Added comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy. Sources: Literature |
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