MAX

MYC associated transcriptional regulator X
OMIM: 154950, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber MAX in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polydactyly-macrocephaly syndrome, MIM# 620712

Green MAX in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pheochromocytoma, susceptibility to}, MIM# 171300
  • Polydactyly-macrocephaly syndrome, MIM# 620712

Green MAX in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pheochromocytoma, susceptibility to}, MIM# 171300

Green MAX in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polydactyly-macrocephaly syndrome, MIM# 620712

Green MAX in Additional findings_Adult


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • {Pheochromocytoma, susceptibility to} 171300

Green MAX in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polydactyly-macrocephaly syndrome, MIM# 620712

Green MAX in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polydactyly-macrocephaly syndrome, MIM# 620712

Green MAX in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Pheochromocytoma, susceptibility to} 171300

Green MAX in Paraganglioma_phaeochromocytoma


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Paraganglioma, MONDO:0000448
  • Pheochromocytoma, MONDO:0008233
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma, susceptibility to, MIM#171300