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  2. Inherited phaeochromocytoma and paraganglioma excluding NF1
  3. MAX
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Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: MAX

Green List (high evidence)
MAX (MYC associated factor X)
EnsemblGeneIds (GRCh38): ENSG00000125952
EnsemblGeneIds (GRCh37): ENSG00000125952
OMIM: 154950, Gene2Phenotype
MAX is in 9 panels

5 reviews

Ivone Leong (Genomics England Curator)

Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 11 Mar 2019, 1:22 p.m.
Created: 11 Mar 2019, 1:22 p.m.

Panel version: 0.5

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from Inherited phaeochromocytoma and paraganglioma panel version 0

Katie Snape (South London GMC)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from Inherited phaeochromocytoma and paraganglioma panel version 0

Ellen Thomas (Genomics England Curator)

Comment on mode of inheritance: Gene also on multiple endocrine tumours as NOT imprinted. Biallelic expression shown in one of the publications below.
Created: 6 Feb 2016, 5:29 p.m.
Created: 6 Feb 2016, 5:29 p.m.

Panel version: Imported from Inherited phaeochromocytoma and paraganglioma panel version 0.5

Treena Cranston (Oxford)

Green List (high evidence)

rare cause. Appears to be a parent of origin effect (not classical imprinting) with preferential paternal transmission. UKGTN approved
Created: 30 Sep 2015, 11:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PCC

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Sep 2015, 11:31 a.m.

Panel version: Imported from Inherited phaeochromocytoma and paraganglioma panel version 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Pheochromocytoma, susceptibility to}, OMIM:171300
  • Hereditary Paraganglioma-Pheochromocytoma Syndrome
OMIM
154950
Clinvar variants
Variants in MAX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MAX were changed from {Pheochromocytoma, susceptibility to}, 171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome; pheochromocytomas (PHEOs), paragangliomas (PGLs) to {Pheochromocytoma, susceptibility to}, OMIM:171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome

11 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: max has been classified as Green List (High Evidence).

11 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: MAX was added gene: MAX was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to PubMed: 21685915; 22429592 Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to}, 171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome; pheochromocytomas (PHEOs), paragangliomas (PGLs)