TYW1

tRNA-yW synthesizing protein 1 homolog
OMIM: 611243, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber TYW1 in Severe microcephaly


Level 2: Neurology
Version 8.43
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • cerebral palsy, MONDO:0006497
  • microcephaly, MONDO:0001149
Amber TYW1 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.44
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • cerebral palsy, MONDO:0006497
Amber TYW1 in Intellectual disability


Level 2: Developmental disorders
Version 9.370
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
    • cerebral palsy, MONDO:0006497
    • intellectual disability, MONDO:0001071