Overgrowth
Gene: HIST1H1E

HIST1H1E (histone cluster 1 H1 family member e)
EnsemblGeneIds (GRCh38): ENSG00000168298
EnsemblGeneIds (GRCh37): ENSG00000168298
OMIM: 142220, Gene2Phenotype
HIST1H1E is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly.

More than 40 unrelated individuals reported.

PTVs result in the same shift in frame and that cluster to a 94-base pair region in the HIST1H1E carboxy terminal domain.
Created: 17 Jan 2021, 10:45 a.m. | Last Modified: 17 Jan 2021, 10:45 a.m.

Panel Version: 0.89

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rahman syndrome, MIM# 617537

Publications

Created: 17 Jan 2021, 10:45 a.m.
Last Modified: 17 Jan 2021, 10:45 a.m.
Panel version: 0.89

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Rahman syndrome, MIM# 617537

OMIM

142220

Clinvar variants

Variants in HIST1H1E

Penetrance

None

Publications

Panels with this gene