Genetic Epilepsy

Gene: EXOSC3

Green List (high evidence)

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported.

Seizures are part of the phenotype.

Created: 14 Feb 2021, 2:54 a.m. | Last Modified: 20 Mar 2024, 4:44 a.m.

Panel Version: 0.2366

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1B, MIM# 614678

Publications

• 22544365
• 23284067
• 24524299

Ataxia is not a prominent feature of the phenotype
Sources: Expert list

Created: 16 Jan 2020, 5:42 a.m. | Last Modified: 16 Jan 2020, 5:42 a.m.

Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1B, 614678