This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating. Mode of inheritance on TruSight panel: Autosomal dominant, poss parent-of-origin effectCreated: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Familial Paraganglioma-Pheochromocytoma Syndrome
- Paraganglioma
- Pheochromocytoma
- Multiple endocrine tumours
- Neuro-endocrine Tumours- PCC and PGL
- OMIM
- 154950
- Clinvar variants
- Variants in MAX
- Penetrance
- Complete
- Panels with this gene
-
- Neuroendocrine cancer pertinent cancer susceptibility
- Neurological segmental overgrowth
- Fetal anomalies
- 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
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)MAX was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MAX was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MAX was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)