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| Arthrogryposis v3.87 | MAGEL2 | Arina Puzriakova Publications for gene: MAGEL2 were set to 26365340; 27195816; 31504653; 29359444; 24076603 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v3.86 | MAGEL2 | Arina Puzriakova Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Prader-Willi-Like syndrome to Schaaf-Yang syndrome, OMIM:615547; Prader-Willi-Like syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.94 | MAGEL2 | Rebecca Foulger Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Prader-Willi-Like syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.93 | MAGEL2 | Rebecca Foulger Publications for gene: MAGEL2 were set to 26365340; 27195816; 31504653; 29359444 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.84 | MAGEL2 | Zerin Hyder reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24076603, 27195816, 26365340; Phenotypes: Schaaf-Yang syndrome, Prader-Willi-Like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.66 | MAGEL2 | Rebecca Foulger Publications for gene: MAGEL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.65 | MAGEL2 | Rebecca Foulger commented on gene: MAGEL2: G2P phenotype is 'ARTHROGRYPOSIS MULTIPLEX CONGENITA' with 'probable' disease confidence, in addition to 'Schaaf-Yang syndrome' with confirmed confidence. G2P rating based on PMID:26365340 who report 2 families with lethal arthrogryposis in deceased fetuses and MAGEL2 variant. PMID:27195816 (Fountain et al., 2017) identified the same heterozygous c.1996delC variant in 2 fetal siblings with Shaaf-Yang syndrome manifesting as AMC. PMID:31504653 (Gregory et al., 2019) report 5 patients (4 families), 3 of whom had arthrogryposis and the Gln666SerfsTer36 MAGEL2 variant. Additional papers reporting arthrogryposis as part of Schaaf-Yang syndrome E.g. PMID:29359444 so likely to be the same condition with variable severity/phenotype. Sufficient cases of arthrogryposis in the literature for a Green rating on Arthrogryposis panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.64 | MAGEL2 | Rebecca Foulger reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v2.62 | MAGEL2 |
Rebecca Foulger gene: MAGEL2 was added gene: MAGEL2 was added to Arthrogryposis. Sources: Literature,Other,Expert Review Green Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, 615547; ARTHROGRYPOSIS MULTIPLEX CONGENITA |
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