TM2D3

TM2 domain containing 3
OMIM: 610014, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber TM2D3 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurocardiorenal malformation syndrome, OMIM:621379
Tags
  • Q1_26_promote_green
Green TM2D3 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MONDO:0700092
    • TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations
    Amber TM2D3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurocardiorenal malformation syndrome, OMIM:621379
    Tags
    • Q1_26_promote_green