Microcephaly
Gene: TRAPPC6B

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia.
Created: 4 Sep 2020, 2:37 a.m. | Last Modified: 4 Sep 2020, 2:37 a.m.

Panel Version: 0.455

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 4 Sep 2020, 2:37 a.m.
Last Modified: 4 Sep 2020, 2:37 a.m.
Panel version: 0.455

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
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