TMTC3

transmembrane and tetratricopeptide repeat containing 3
OMIM: 617218, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TMTC3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.7
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Lissencephaly 8, OMIM:617255
Green TMTC3 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Cobblestone Lissencephaly
    Green TMTC3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.29
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Lissencephaly 8, 617255
    • includes intellectual disability