SUPT4H1

SPT4 homolog, DSIF elongation factor subunit
OMIM: 603555, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SUPT4H1 in Mendeliome


Version 2.19

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, SUPT4H1-related

Green SUPT4H1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, SUPT4H1-related

Green SUPT4H1 in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, SUPT4H1-related