PanelApp (test)
  1. Genes and Genomic Entities
  2. HERC1

HERC1

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
OMIM: 605109, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green HERC1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011

Green HERC1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011

Green HERC1 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
  • Genetic Health Queensland
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011

Green HERC1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011