MNX1

motor neuron and pancreas homeobox 1
OMIM: 142994, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MNX1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Currarino syndrome, MIM# 176450

Green MNX1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Currarino syndrome, MIM# 176450
  • Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related

Red MNX1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Currarino syndrome
  • OMIM #176450

Green MNX1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Currarino syndrome 176450

Green MNX1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.134

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related

    Green MNX1 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Currarino syndrome, MIM# 176450

    Green MNX1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related
    Tags
    • treatable
    • endocrine