Inherited phaeochromocytoma and paraganglioma excluding NF1
Gene: MAXComment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 11 Mar 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Comment on mode of inheritance: Gene also on multiple endocrine tumours as NOT imprinted. Biallelic expression shown in one of the publications below.Created: 6 Feb 2016, 5:29 p.m.
rare cause. Appears to be a parent of origin effect (not classical imprinting) with preferential paternal transmission. UKGTN approvedCreated: 30 Sep 2015, 11:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PCC
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MAX were changed from {Pheochromocytoma, susceptibility to}, 171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome; pheochromocytomas (PHEOs), paragangliomas (PGLs) to {Pheochromocytoma, susceptibility to}, OMIM:171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome
Gene: max has been classified as Green List (High Evidence).
gene: MAX was added gene: MAX was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to PubMed: 21685915; 22429592 Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to}, 171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome; pheochromocytomas (PHEOs), paragangliomas (PGLs)