NOP58

NOP58 ribonucleoprotein
OMIM: 616742, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red NOP58 in Mendeliome


Version 1.4044

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, NOP58-related

Red NOP58 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.393

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, NOP58-related

Red NOP58 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.565

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, NOP58-related