Cerebellar and Pontocerebellar Hypoplasia
Gene: TRAPPC6B

TRAPPC6B (trafficking protein particle complex 6B)
EnsemblGeneIds (GRCh38): ENSG00000182400
EnsemblGeneIds (GRCh37): ENSG00000182400
OMIM: 610397, Gene2Phenotype
TRAPPC6B is in 9 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

No evidence supporting cerebellar and pontocerebellar hypoplasia. Gene is not listed in cerebellar hypoplasia gene list (PanelApp UK and RMH)

PMID:28626029; Marin-Valencia 2018: Reported founder mutation in 6 affected from 3 families. 1 family presented with progressive cerebellar and brainstem atrophy which worsened over time.
PMID: 28397838; Harripaul 2018: Reported nonsense in one family. No clinical information.
Created: 20 Apr 2020, 12:04 a.m. | Last Modified: 20 Apr 2020, 12:04 a.m.

Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862)

Publications

Created: 20 Apr 2020, 12:04 a.m.
Last Modified: 20 Apr 2020, 12:04 a.m.
Panel version: 0.32

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862)

OMIM

610397

Clinvar variants

Variants in TRAPPC6B

Penetrance

None

Publications

Panels with this gene