HIST1H1E

histone cluster 1 H1 family member e
OMIM: 142220, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green HIST1H1E in Mendeliome


Version 1.4850

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rahman syndrome, MIM# 617537

Green HIST1H1E in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.21

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rahman syndrome, MIM# 617537

Green HIST1H1E in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Rahman syndrome, MIM# 617537

Red HIST1H1E in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 0.120

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Rahman syndrome, MIM# 617537

Green HIST1H1E in Fetal anomalies


Version 1.576

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Rahman syndrome, OMIM:617537
  • Rahman syndrome, MONDO:0044323