Activity
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14 actions
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| Neurological segmental overgrowth v2.16 | MAX |
Eleanor Williams Tag Q2_24_promote_green was removed from gene: MAX. Tag Q2_24_NHS_review was removed from gene: MAX. |
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| Neurological segmental overgrowth v2.16 | MAX | Eleanor Williams reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v2.15 | MAX |
Eleanor Williams Source NHS GMS was added to MAX. Source Expert Review Green was added to MAX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Neurological segmental overgrowth v2.12 | MAX | Achchuthan Shanmugasundram Classified gene: MAX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v2.12 | MAX | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by James Poulter, there is sufficient evidence available (three unrelated cases with the same p.Arg60Gln variant and functional studies) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v2.12 | MAX | Achchuthan Shanmugasundram Gene: max has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v2.11 | MAX |
Achchuthan Shanmugasundram changed review comment from: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae. Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.; to: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae. Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. This gene has been associated with relevant phenotypes in OMIM (MIM #620712). |
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| Neurological segmental overgrowth v2.11 | MAX | Achchuthan Shanmugasundram Phenotypes for gene: MAX were changed from Macrocephaly; Polydactyly; delayed ophthalmic development; autism to Polydactyly-macrocephaly syndrome, OMIM:620712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v2.10 | MAX |
Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MAX. Tag Q2_24_NHS_review tag was added to gene: MAX. |
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| Neurological segmental overgrowth v2.10 | MAX |
Achchuthan Shanmugasundram changed review comment from: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain. Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae. Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc.; to: PMID:38141607 reported three individuals with the same recurrent de novo germline variant in the MAX gene (p.Arg60Gln). Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae. Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. |
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| Neurological segmental overgrowth v2.10 | MAX | Achchuthan Shanmugasundram Publications for gene: MAX were set to PMID:38141607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v2.9 | MAX |
Achchuthan Shanmugasundram commented on gene: MAX: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain. Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae. Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. |
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| Neurological segmental overgrowth v2.9 | MAX | Achchuthan Shanmugasundram reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38141607; Phenotypes: Polydactyly-macrocephaly syndrome, OMIM:620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v2.9 | MAX |
James Poulter gene: MAX was added gene: MAX was added to Neurological segmental overgrowth. Sources: Literature Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to PMID:38141607 Phenotypes for gene: MAX were set to Macrocephaly; Polydactyly; delayed ophthalmic development; autism Penetrance for gene: MAX were set to Complete Review for gene: MAX was set to GREEN Added comment: Recurrent de novo variant (p.Arg60Gln) identified in 3 unrelated individuals. Pathogenicity supported by functional analysis. Sources: Literature |
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