UBA7

ubiquitin like modifier activating enzyme 7
OMIM: 191325, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber UBA7 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.252

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092

Amber UBA7 in Mendeliome


Version 1.4935

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092

Amber UBA7 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.807

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092