Multiple endocrine tumours

Gene: MAX

Green List (high evidence)

MAX (MYC associated factor X)
EnsemblGeneIds (GRCh38): ENSG00000125952
EnsemblGeneIds (GRCh37): ENSG00000125952
OMIM: 154950, Gene2Phenotype
MAX is in 6 panels

5 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

Multiple primary NET tumour predisposition- more for PCC and PPL
Created: 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
  • Endocrine Cancer
OMIM
154950
Clinvar variants
Variants in MAX
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for MAX was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for MAX were set to PubMed: 21685915

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MAX was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MAX was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory