Intellectual disability
Gene: TRAPPC12

TRAPPC12 (trafficking protein particle complex 12)
EnsemblGeneIds (GRCh38): ENSG00000171853
EnsemblGeneIds (GRCh37): ENSG00000171853
OMIM: 614139, Gene2Phenotype
TRAPPC12 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

- PMID: 32369837 (2020) - Two further unrelated patients with severe neurodevelopmental delay and brain atrophy, and different homozygous variants in this gene. One individual also presented microcephaly and epilepsy
Created: 20 Jan 2021, 5:27 p.m. | Last Modified: 20 Jan 2021, 5:27 p.m.

Panel Version: 3.714

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696

Publications

32369837

Created: 20 Jan 2021, 5:27 p.m.
Last Modified: 20 Jan 2021, 5:27 p.m.
Panel version: 3.714

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Did not upgrade gene on the Genetic Epilepsy Syndromes panel as there was no phenotype of epilepsy in the third case.
Created: 2 Jul 2019, 3:52 p.m. | Last Modified: 2 Jul 2019, 3:52 p.m.

Panel Version: 2.937

Comment on list classification: Appropriate phenotype, sufficient cases due to an unpublished report that supports gene-disease association and relevance to this panel to rate gene from Red to Green.
Created: 1 Jul 2019, 10:08 a.m. | Last Modified: 1 Jul 2019, 10:15 a.m.

Panel Version: 2.925

From OMIM: In 3 patients from 2 unrelated families with early-onset progressive encephalopathy with brain atrophy and spasticity (MIM:617669), Milev et al. (2017, PMID:28777934) identified homozygous or compound heterozygous mutations in the TRAPPC12 gene.

However, in addition to this published evidence, recently a diagnosis of TRAPPC12 from an exome has been discovered (pers. comm Genomics England clinical team), however the case had a negative 100K Genomes Project report, as there was not enough evidence to make the gene Green at the time. The child had developmental delay, microcephaly and cerebellar hypoplasia, and makes a third case supporting the phenotype and upgrading of this gene to Green
Created: 1 Jul 2019, 10:02 a.m. | Last Modified: 1 Jul 2019, 10:02 a.m.

Panel Version: 2.920

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

28777934

Created: 1 Jul 2019, 10:02 a.m.
Last Modified: 1 Jul 2019, 10:15 a.m.
Panel version: 2.937

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696

OMIM

614139

Clinvar variants

Variants in TRAPPC12

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRAPPC12 were changed from Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669; Developmental delay to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696

20 Jan 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TRAPPC12 were set to 28777934

1 Jul 2019, Gel status: 3