HNRNPH1:Ensemblv90

heterogeneous nuclear ribonucleoprotein H1
OMIM: 601035, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green HNRNPH1 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083

Green HNRNPH1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083

Green HNRNPH1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083