Multiple endocrine tumours
Gene: MAXEnsemblGeneIds (GRCh38): ENSG00000125952
EnsemblGeneIds (GRCh37): ENSG00000125952
OMIM: 154950, Gene2Phenotype
MAX is in 9 panels
5 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Katie Snape (South London GMC)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on mode of inheritance: Publication below showed biallelic expression of MAX so not imprinted.Created: 2 Feb 2016, 2:41 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Mixed mode of inheritance from different reviewers in terms of imprinting status.Created: 1 Feb 2016, 12:49 p.m.
Comment on list classification: 3 reviewers agree, and on the COSMIC cancer consenus gene list.Created: 1 Feb 2016, 12:47 p.m.
Louise IZATT (GSTT Clinical Genetics Service)
Multiple primary NET tumour predisposition- more for PCC and PPLCreated: 16 Oct 2015, 1 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- {Pheochromocytoma, susceptibility to}, OMIM:171300
- OMIM
- 154950
- Clinvar variants
- Variants in MAX
- Penetrance
- Complete
- Publications
-
- PubMed: 21685915
- Panels with this gene
-
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Neurological segmental overgrowth
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MAX were changed from Endocrine Cancer to {Pheochromocytoma, susceptibility to}, OMIM:171300
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for MAX was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Ellen Thomas (Genomics England Curator)Publications for MAX were set to PubMed: 21685915
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MAX was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)MAX was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory