XPOT

exportin for tRNA
OMIM: 603180, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green XPOT in Mendeliome


Version 1.4543

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254
Tags
  • preprint

Green XPOT in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254
Tags
  • preprint

Green XPOT in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.333

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254
Tags
  • preprint

Green XPOT in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.700

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254
Tags
  • preprint