Microcephaly

Gene: HIST1H4E

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950

Green List (high evidence)

HGNC recognised gene name: H4C5
17 patients identified with de novo missense variants affecting Lys31, Pro32, Arg35, Leu37, Arg40 (recurrent), Arg45 (recurrent), Tyr98 (recurrent). All individuals had ID/dev delay. Additional phenotypes in some but not all individuals included epilepsy, hypotonia, facial dysmorphism. Most had reduced birth length, OFC, weight (-1 to -3SD). OFC at most recent exam (age range 11 months to 18 years) ranged from -0.15SD to < -4SD. 10/17 had OFC < -3SD.
A zebrafish model has developmental defects.
Sources: Literature

Created: 3 Mar 2022, 1:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092

Publications

• 35202563

Variants in this GENE are reported as part of current diagnostic practice