QSER1

glutamine and serine rich 1
OMIM: 619440, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber QSER1 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, QSER1-related

Red QSER1 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, QSER1-related

Red QSER1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, QSER1-related

Red QSER1 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, QSER1-related