RNU12

RNA, U12 small nuclear
OMIM: 620204, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RNU12 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0011287
Tags
  • non-coding gene

Green RNU12 in Mendeliome


Version 2.588

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0011287
Tags
  • non-coding gene

Green RNU12 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0011287
Tags
  • non-coding gene

Green RNU12 in Fetal anomalies


Version 2.81

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0011287
Tags
  • non-coding gene