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Prepair 1000+

Gene: TRAPPC6B

Red List (low evidence)

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

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.

Onset in early infancy, progressive disorder (OMIM).

This gene now meets the criteria and is relevant for Prepair+.
Created: 4 Feb 2025, 10:55 p.m. | Last Modified: 4 Feb 2025, 10:55 p.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Tags
for review
OMIM
610397
Clinvar variants
Variants in TRAPPC6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TRAPPC6B.

1 Jun 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAPPC6B was added gene: TRAPPC6B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC6B were set to 28397838; 28626029; 31687267 Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862