Neuroendocrine cancer pertinent cancer susceptibility
Gene: MAXEnsemblGeneIds (GRCh38): ENSG00000125952
EnsemblGeneIds (GRCh37): ENSG00000125952
OMIM: 154950, Gene2Phenotype
MAX is in 9 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Details checked against the original gene list from Clare Turnbull.Created: 26 Jul 2017, 12:54 p.m.
Clare Turnbull (Queen Mary University London)
Phenotypes
Neuroendocrine cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Pheochromocytoma, susceptibility to}, OMIM:171300
- OMIM
- 154950
- Clinvar variants
- Variants in MAX
- Penetrance
- Complete
- 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 Neuroendocrine cancer to {Pheochromocytoma, susceptibility to}, OMIM:171300
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MAX was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MAX was added to Neuroendocrine cancerpanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)MAX was created by ellenmcdonagh