MAX

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Amber MAX in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

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

Green MAX in Mendeliome


Version 2.588

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple endocrine neoplasia, type V, MIM# 621678
  • Polydactyly-macrocephaly syndrome, MIM# 620712

Red MAX in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.2

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple endocrine neoplasia, type V, MIM# 621678

Green MAX in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.20

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • 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 3.1

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Multiple endocrine neoplasia, type V, MIM# 621678

    Green MAX in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    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 2.81

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

    Red MAX in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Multiple endocrine neoplasia, type V, MIM# 621678
    Tags
    • TRAIL study

    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 2.2

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Multiple endocrine neoplasia, type V, MIM# 621678