Inherited phaeochromocytoma and paraganglioma
Gene: MAXEnsemblGeneIds (GRCh38): ENSG00000125952
EnsemblGeneIds (GRCh37): ENSG00000125952
OMIM: 154950, Gene2Phenotype
MAX is in 9 panels
4 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Katie Snape (South London GMC)
Ellen Thomas (Genomics England Curator)
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.
Treena Cranston (Oxford)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- pheochromocytomas (PHEOs), paragangliomas (PGLs)
- Hereditary Paraganglioma-Pheochromocytoma Syndrome
- {Pheochromocytoma, susceptibility to}, 171300
- OMIM
- 154950
- Clinvar variants
- Variants in MAX
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Neurological segmental overgrowth
- Childhood solid tumours
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for MAX were set to PubMed: 21685915; 22429592
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for MAX was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
Added New Source
GEL ()MAX was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory