SETD2

SET domain containing 2
OMIM: 612778, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber SETD2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Luscan-Lumish syndrome (MIM#616831)

Amber SETD2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 70, MIM#620157
  • Luscan-Lumish syndrome, MIM#61683
  • Rabin-Pappas syndrome, MIM#620155

Green SETD2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Luscan-Lumish syndrome, MIM#616831

Green SETD2 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Luscan-Lumish syndrome, MIM#616831
  • Rabin-Pappas syndrome,MIM# 620155
  • Intellectual developmental disorder, autosomal dominant 70, MIM# 620157

Green SETD2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rabin-Pappas syndrome,MIM# 620155

Green SETD2 in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Luscan-Lumish syndrome, MIM#616831

Green SETD2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Luscan-Lumish syndrome, MIM#616831
  • Rabin-Pappas syndrome,MIM# 620155
  • Intellectual developmental disorder, autosomal dominant 70, MIM# 620157

Green SETD2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Luscan-Lumish syndrome 616831

Green SETD2 in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Luscan-Lumish syndrome, MIM#616831