Inherited phaeochromocytoma and paraganglioma
Gene: MAX
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
This gene has been classified as Green List (High Evidence).
Publications for MAX were set to PubMed: 21685915; 22429592
Mode of inheritance for MAX was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing
MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen
MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services
MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory