NSD2

nuclear receptor binding SET domain protein 2
OMIM: 602952, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red NSD2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Rauch-Steindl syndrome, MIM#619695

Green NSD2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rauch-Steindl syndrome, MIM# 619695
  • Microcephaly
  • intellectual disability
  • Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092

Green NSD2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rauch-Steindl syndrome, MIM# 619695
  • Microcephaly
  • intellectual disability

Green NSD2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Rauch-Steindl syndrome, MIM# 619695
  • Microcephaly
  • intellectual disability
  • Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092

Green NSD2 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rauch-Steindl syndrome, MIM# 619695