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Intellectual disability

Gene: TRAPPC12

Green List (high evidence)

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

1 review

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Comment on list classification: Appropriate phenotype, sufficient cases due to an unpublished report that supports gene-disease association and relevance to this panel to rate gene from Red to Green.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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669
  • Developmental delay
OMIM
614139
Clinvar variants
Variants in TRAPPC12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

1 Jul 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

1 Jul 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TRAPPC12 were set to 28777934

1 Jul 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

1 Jul 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TRAPPC12 were set to

1 Jul 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TRAPPC12 was added gene: TRAPPC12 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: TRAPPC12 was set to