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Genetic Epilepsy

Gene: TRAPPC12

Green List (high evidence)

TRAPPC12 (trafficking protein particle complex 12)
EnsemblGeneIds (GRCh38): ENSG00000171853
EnsemblGeneIds (GRCh37): ENSG00000171853
OMIM: 614139, Gene2Phenotype
TRAPPC12 is in 8 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Update - 3 unrelated families with characteristic phenotype involving microcephaly and epilepsy (Milev et al 2017, Aslanger et al 2020). 4th case from unrelated family with novel homozygous missense variants reported with no microcephaly or clinically apparent epilepsy (Aslanger et al 2020).

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3 individuals from 2 unrelated families reported by Milev et al 2017 with similar clinical phenotype: severe disability, microcephaly, hearing loss, spasticity, and characteristic brain imaging findings including pons hypoplasia, agenesis of the corpus callosum and brain atrophy. 2 of the 3 individuals had epilepsy with the third having a history of myoclonic jerks and significant MRI-B anomalies including agenesis of the corpus callosum. Fibroblasts derived from all three individuals showed a fragmented Golgi that could be rescued by expression of wild-type TRAPPC12

Aslanger et al 2020 reports a 3rd case from an unrelated family with homozygous TRAPPC12 missense variants (reported previously by Milev et al in a patient with compound het variants) in a 2 year old M with axial hypotonia, appendicular hypertonia, severe dev delay, generalized tonic-clonic seizues and microcephaly. MRI-B showed ventriculomegaly, progressive severe cerebral atrophy, and moderate cerebellar atrophy.

Aslanger et al also report a 4th case from an unrelated family with a novel homozygous TRAPPC12 variant in a 9 year old M with severe truncal hypotonia, extreme hypertonicity, severe dev delay prominent cerebellar atrophy but no microcephaly or clinically apparent epilepsy. Paroxysmal discharges were noted on EEG. This case may reflect that the phenotype is more variable than previously anticipated particularly with biallelic missense variants however we would benefit from having more reported cases to expand the phenotype.
Created: 11 Oct 2021, 12:02 a.m. | Last Modified: 11 Oct 2021, 12:02 a.m.
Panel Version: 0.1276

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity - 617669

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: Three unrelated families with consistent phenotype including microcephaly and seizures.
Created: 11 Oct 2021, 5:39 a.m. | Last Modified: 11 Oct 2021, 5:39 a.m.
Panel Version: 0.1286
Two unrelated families reported.
Created: 25 Jan 2020, 9:31 a.m. | Last Modified: 25 Jan 2020, 9:31 a.m.
Panel Version: 0.498

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
OMIM
614139
Clinvar variants
Variants in TRAPPC12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trappc12 has been classified as Green List (High Evidence).

11 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trappc12 has been classified as Green List (High Evidence).

25 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trappc12 has been classified as Amber List (Moderate Evidence).

25 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669

25 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669

25 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669

25 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAPPC12 were set to

25 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

25 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trappc12 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAPPC12 was added gene: TRAPPC12 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: TRAPPC12 was set to Unknown