RNU5A-1

RNA, U5A small nuclear 1
OMIM: 180691, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RNU5A-1 in Mendeliome


Version 1.2809

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), RNU5A-1 related

Amber RNU5A-1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.207

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), RNU5A-1 related