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Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow Tag Q3_22_rating was removed from gene: MAGEL2.
Tag Q3_22_MOI was removed from gene: MAGEL2.
Tag Q3_22_NHS_review was removed from gene: MAGEL2.
Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Usually manifests at birth with muscular hypotonia in all patients and distal joint contractures in a majority of affected individuals, therefore likely that these patients will be tested using alternative panel(s). Further clinical input needed to determine if this panel would be used for these patients."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Usually manifests at birth with muscular hypotonia in all patients and distal joint contractures in a majority of affected individuals, therefore likely that these patients will be tested using alternative panel(s). Further clinical input needed to determine if this panel would be used for these patients."
Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow commented on gene: MAGEL2
Pituitary hormone deficiency v2.105 MAGEL2 Catherine Snow Source NHS GMS was added to MAGEL2.
Pituitary hormone deficiency v2.102 MAGEL2 Sarah Leigh Tag Q3_22_MOI tag was added to gene: MAGEL2.
Pituitary hormone deficiency v2.57 MAGEL2 Eleanor Williams Classified gene: MAGEL2 as Red List (low evidence)
Pituitary hormone deficiency v2.57 MAGEL2 Eleanor Williams Added comment: Comment on list classification: Promoting to amber but with a recommendation for green rating following GMS review. More than 3 patients reported with plausible disease causing variants in MAGEL2 and a pituitary hormone deficiency
Pituitary hormone deficiency v2.57 MAGEL2 Eleanor Williams Gene: magel2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v2.56 MAGEL2 Eleanor Williams Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, OMIM:615547; Schaaf-Yang syndrome, MONDO:0014243
Pituitary hormone deficiency v2.55 MAGEL2 Eleanor Williams Publications for gene: MAGEL2 were set to
Pituitary hormone deficiency v2.54 MAGEL2 Eleanor Williams Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Pituitary hormone deficiency v2.53 MAGEL2 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: MAGEL2.
Tag Q3_22_NHS_review tag was added to gene: MAGEL2.
Pituitary hormone deficiency v2.53 MAGEL2 Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: MAGEL2.
Tag Q3_22_rating tag was added to gene: MAGEL2.
Pituitary hormone deficiency v2.53 MAGEL2 Eleanor Williams changed review comment from: Associated with Schaaf-Yang syndrome #615547 (AD) in OMIM.

PMID: 31504653 - Gregory et al 2019 - report 4 patients from 3 unrelated families (2 White European, 1 White Chilean) with the same c.1996dup, p.Q666Pfs*47. variant in MAGEL2, who all presented with variable congenital hypopituitarism (CH) and arthrogryposis. In 2 cases it was found to be a de novo variant. In the other two it would found not to be maternally inherited but paternal DNA was not available.

PMID: 29359444 - Enya et al 2018 - report 3 patients from 2 Japanese families with Schaaf-Yang syndrome with arthrogryposis and endocrinological abnormalities. In both families variants in MAGEL2 were identified (c.1912C>T, p.Gln638*, inherited from the heterozygous father, and the de novo variant c.3131C>A, p.Ser1044*). The patient with the p.Ser1044* was was diagnosed with panhypopituitarism.

PMID: 30323850 - Hidalgo-Santos et al 2018 - report a patient with Schaaf-Yang syndrome and a de novo variant in MAGEL2 (c.3019 C > T, p.Gln1007*). The patient presented with distal contractures, hypotonia, autism spectrum disorder, digestive abnormalities, partial hypopituitarism with central hypothyroidism and growth hormone (GH) deficiency; to: Associated with Schaaf-Yang syndrome #615547 (AD) in OMIM.

PMID: 31504653 - Gregory et al 2019 - report 4 patients from 3 unrelated families (2 White European, 1 White Chilean) with the same c.1996dup, p.Q666Pfs*47. variant in MAGEL2, who all presented with variable congenital hypopituitarism (CH) and arthrogryposis. In 2 cases it was found to be a de novo variant. In the other two it would found not to be maternally inherited but paternal DNA was not available.

PMID: 29359444 - Enya et al 2018 - report 3 patients from 2 Japanese families with Schaaf-Yang syndrome with arthrogryposis and endocrinological abnormalities. In both families variants in MAGEL2 were identified (c.1912C>T, p.Gln638*, inherited from the heterozygous father, and the de novo variant c.3131C>A, p.Ser1044*). The patient with the p.Ser1044* was diagnosed with panhypopituitarism.

PMID: 30323850 - Hidalgo-Santos et al 2018 - report a patient with Schaaf-Yang syndrome and a de novo variant in MAGEL2 (c.3019 C > T, p.Gln1007*). The patient presented with distal contractures, hypotonia, autism spectrum disorder, digestive abnormalities, partial hypopituitarism with central hypothyroidism and growth hormone (GH) deficiency
Pituitary hormone deficiency v2.53 MAGEL2 Eleanor Williams edited their review of gene: MAGEL2: Added comment: Associated with Schaaf-Yang syndrome #615547 (AD) in OMIM.

PMID: 31504653 - Gregory et al 2019 - report 4 patients from 3 unrelated families (2 White European, 1 White Chilean) with the same c.1996dup, p.Q666Pfs*47. variant in MAGEL2, who all presented with variable congenital hypopituitarism (CH) and arthrogryposis. In 2 cases it was found to be a de novo variant. In the other two it would found not to be maternally inherited but paternal DNA was not available.

PMID: 29359444 - Enya et al 2018 - report 3 patients from 2 Japanese families with Schaaf-Yang syndrome with arthrogryposis and endocrinological abnormalities. In both families variants in MAGEL2 were identified (c.1912C>T, p.Gln638*, inherited from the heterozygous father, and the de novo variant c.3131C>A, p.Ser1044*). The patient with the p.Ser1044* was was diagnosed with panhypopituitarism.

PMID: 30323850 - Hidalgo-Santos et al 2018 - report a patient with Schaaf-Yang syndrome and a de novo variant in MAGEL2 (c.3019 C > T, p.Gln1007*). The patient presented with distal contractures, hypotonia, autism spectrum disorder, digestive abnormalities, partial hypopituitarism with central hypothyroidism and growth hormone (GH) deficiency; Changed publications to: 31504653, 29359444, 30323850; Changed phenotypes to: Schaaf-Yang syndrome, OMIM:615547
Pituitary hormone deficiency v2.15 MAGEL2 Eleanor Williams reviewed gene: MAGEL2: Rating: ; Mode of pathogenicity: ; Publications: 31504653; Phenotypes: SCHAAF-YANG SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Pituitary hormone deficiency v2.14 MAGEL2 Eleanor Williams gene: MAGEL2 was added
gene: MAGEL2 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: MAGEL2 was set to