Early onset or syndromic epilepsy
Gene: TRAPPC12The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Comment on list classification: With addition of the recently reported case, there are now at least 3 unrelated patients with epilepsy and biallelic variants in this gene (PMIDs: 28777934 and 32369837).
This now reaches threshold for inclusion as diagnostic-grade, and therefore TRAPPC12 can be promoted to Green at the next GMS panel update (added 'for-review' tag)Created: 20 Jan 2021, 5:24 p.m. | Last Modified: 20 Jan 2021, 5:24 p.m.
Panel Version: 2.259
- 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 (generalized tonic-clonic convulsions by this first year of life). The second individual did display EEG abnormalities but without seizures.Created: 20 Jan 2021, 5:20 p.m. | Last Modified: 20 Jan 2021, 5:20 p.m.
Panel Version: 2.258
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Limited evidence: two of the three cases in PMID 28777934 had seizures.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669
Publications
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber:Created: 15 Aug 2019, 8:11 a.m. | Last Modified: 15 Aug 2019, 8:11 a.m.
Panel Version: 1.223
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Kept rating as Amber: 2 families only in PMID:28777934. Seizures are a phenotype in 2/3 of the patients (one patient from each family).Created: 8 Nov 2018, 9:38 a.m. | Last Modified: 4 Jul 2019, 10:42 a.m.
Panel Version: 1.109
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. Epilepsy is reported in 2/3 patients (the patient from family I, and one of the sisters from family II; the other sister showed monoclonic jerks only).Created: 8 Nov 2018, 9:37 a.m. | Last Modified: 4 Jul 2019, 10:41 a.m.
Panel Version: 1.109
Only two families reported in the literature.Created: 22 Aug 2018, 6:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: TRAPPC12.
Source Expert Review Green was added to TRAPPC12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: TRAPPC12 were set to 28777934
Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TRAPPC12.
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, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to TRAPPC12.
Source NHS GMS was added to TRAPPC12.
Zornitza Stark: Only two families reported in
Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Publications for gene: TRAPPC12 were set to
Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669
Mode of inheritance for gene: TRAPPC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to TRAPPC12. Panel: Genetic Epilepsy Syndromes
TRAPPC12 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TRAPPC12 was created by Sarah Leigh