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Genetic Epilepsy

Gene: TRAPPC6B

Green List (high evidence)
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, 2:45 a.m. | Last Modified: 4 Sep 2020, 2:45 a.m.
Panel Version: 0.834

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 4 Sep 2020, 2:45 a.m.
Last Modified: 4 Sep 2020, 2:45 a.m.
Panel version: 0.834

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
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

History Filter Activity

4 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trappc6b has been classified as Green List (High Evidence).

4 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267

4 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAPPC6B were changed from Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862

4 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862

4 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAPPC6B were set to

4 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAPPC6B was added gene: TRAPPC6B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRAPPC6B was set to Unknown