RNPC3

RNA binding region (RNP1, RRM) containing 3
ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RNPC3 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160

Amber RNPC3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Growth hormone deficiency
  • Intellectual disability

Green RNPC3 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Growth hormone deficiency
  • Intellectual disability

Green RNPC3 in Growth failure


Version 1.87

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Growth hormone deficiency
  • Intellectual disability

Green RNPC3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160
Tags
  • treatable
  • endocrine