1. Genes and Genomic Entities
  2. TCEAL1

TCEAL1

transcription elongation factor A like 1
OMIM: 300237, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green TCEAL1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

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
    • TCEAL1-related neurodevelopmental disorder
    Tags
    • de novo
    Green TCEAL1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094