Adult solid tumours for rare disease
Gene: MAX
MAX (MYC associated factor X)
EnsemblGeneIds (GRCh38): ENSG00000125952
EnsemblGeneIds (GRCh37): ENSG00000125952
OMIM: 154950, Gene2Phenotype
MAX is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000125952
EnsemblGeneIds (GRCh37): ENSG00000125952
OMIM: 154950, Gene2Phenotype
MAX is in 9 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Pheochromocytoma, adrenal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- {Pheochromocytoma, susceptibility to}, OMIM:171300
- OMIM
- 154950
- Clinvar variants
- Variants in MAX
- Penetrance
- None
- 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
18 Jun 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MAX were changed from Familial Pheochromocytoma, adrenal to {Pheochromocytoma, susceptibility to}, OMIM:171300
5 Mar 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
19 Dec 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)MAX was added to Adult solid tumours for rare disease panel. Sources: Expert list,Expert Review Green
19 Dec 2017, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)MAX was created by Ellen McDonagh