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| Childhood solid tumours v3.4 | MAX |
Arina Puzriakova Tag Q3_22_rating was removed from gene: MAX. Tag Q3_22_expert_review was removed from gene: MAX. |
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| Childhood solid tumours v3.3 | MAX | Arina Puzriakova edited their review of gene: MAX: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v3.2 | MAX |
Arina Puzriakova Source Expert Review Green was added to MAX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Childhood solid tumours v2.35 | MAX | Eleanor Williams commented on gene: MAX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.35 | MAX |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: MAX. Tag Q3_22_rating tag was added to gene: MAX. Tag Q3_22_expert_review tag was added to gene: MAX. |
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| Childhood solid tumours v2.20 | MAX | Arina Puzriakova Classified gene: MAX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.20 | MAX | Arina Puzriakova Added comment: Comment on list classification: Overall there is some evidence to suggest pertinence of this panel to some MAX variant carriers; however, inclusion could risk potential incidental findings in others. Therefore, this gene will be flagged for review by the GMS specialist working group to establish consensus on whether MAX should be included on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.20 | MAX | Arina Puzriakova Gene: max has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.19 | MAX |
Arina Puzriakova gene: MAX was added gene: MAX was added to Tumour predisposition - childhood onset. Sources: NHS GMS Q2_21_expert_review tags were added to gene: MAX. Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to 33367756; 32508744; 22452945 Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to}, OMIM:171300 Review for gene: MAX was set to AMBER Added comment: This gene was flagged internally by a GLH following identification of a pathogenic germline variant in a patient with paediatric neuroblastoma. The variant was initially classified as tier 3 as the gene was not included on any panels applied for variant prioritisation - but was on a different cancer susceptibility panel (Adult solid tumours cancer susceptibility v2.2). ----- There is a well-established link between MAX variants and pheochromocytoma (PCC; MIM# 171300). Typically, age of diagnosis is in adulthood. Literature search for MAX-related paediatric onset cases did reveal a large family with multiple individuals with PCCs including one female (III.5) diagnosed with PCC at 14 years (Seabrook et al. 2021, PMID: 33367756). The same family also had 2 children without PCC at time of reporting but with different malignancies - paravertebral ganglioneuroma (III.8, aged 5 years) and abdominal neuroblastoma (III.9, aged 6 months), respectively. Pozza et al. 2020 (PMID: 32508744) also reported on an unrelated female who was diagnosed with pelvic ganglioneuroblastoma with lumbar–aortic lymph node metastases at 11 months and later with right composite adrenal PCC-ganglioneuroma at 15 years. Another study (PMID: 22452945) investigating contribution of MAX variants to PCC stated the age of diagnosis ranged between 13-58 years in a cohort of 23 probands. Sources: NHS GMS |
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