MID1

midline 1
OMIM: 300552, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green MID1 in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.8

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Opitz GBBB syndrome, type I 300000
  • OPITZ G/BBB SYNDROME, X-LINKED
Green MID1 in Fetal anomalies


Version 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OPITZ G/BBB SYNDROME, X-LINKED
Green MID1 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OPITZ G/BBB SYNDROME, X-LINKED 300000
    Green MID1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • OPITZ GBBB SYNDROME, TYPE I
    • GBBB1
    Green MID1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.474
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Opitz GBBB syndrome, type I, 300000
    • OPITZ G/BBB SYNDROME, X-LINKED
    Green MID1 in Severe Paediatric Disorders


    Version 1.182

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Opitz GBBB syndrome, type I, 300000