SEL1L

SEL1L ERAD E3 ligase adaptor subunit
OMIM: 602329, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SEL1L in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SEL1L-related

Green SEL1L in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SEL1L-related