1. Genes and Genomic Entities
  2. THUMPD1

THUMPD1

THUMP domain containing 1
OMIM: 616662, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green THUMPD1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989
Green THUMPD1 in DDG2P


Version 6.447
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
    • THUMPD1 neurodevelopment disorder
    Green THUMPD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.355
    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 Green
    • NHS GMS
    Phenotypes
    • Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989