Ataxia and cerebellar anomalies - narrow panel
Gene: TECPR2EnsemblGeneIds (GRCh38): ENSG00000196663
EnsemblGeneIds (GRCh37): ENSG00000196663
OMIM: 615000, Gene2Phenotype
TECPR2 is in 10 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 10:01 a.m. | Last Modified: 11 Oct 2023, 10:01 a.m.
Panel Version: 4.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mafalda Gomes (Genomics England Curator)
Neuser et al. (2021) report 17 unrelated cases with biallelic pathogenic variants in TECPR2. The study also includes 11 previously reported patients. The core manifestations in these individuals are global developmental delay/intellectual disability, muscular hypotonia, ataxia, hyporeflexia, respiratory infections, and central/nocturnal hypopnea. Peripheral neuropathy was present in two-thirds of all individuals. The majority of the pathogenic variants identified are truncating variants; however, missense variants were also found, predominantly located in the N-terminal and C-terminal regions. The TECPR2 gene is implicated in the autophagy pathway, which is critical to the development and function of the central nervous system. Loss of function variants in several genes of the autophagy pathway lead to both neurodevelopmental and neurodegenerative diseases. In summary, this gene should be promoted to GREEN in this panel, with autosomal recessive mode of inheritance.Created: 20 Jan 2023, 11:16 a.m. | Last Modified: 20 Jan 2023, 11:20 a.m.
Panel Version: 3.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
- OMIM
- 615000
- Clinvar variants
- Variants in TECPR2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Fetal anomalies
- Adult onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: TECPR2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to TECPR2. Source NHS GMS was added to TECPR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Mafalda Gomes (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: TECPR2.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Phenotypes for gene: TECPR2 were changed from to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
Set publications
Mafalda Gomes (Genomics England Curator)Publications for gene: TECPR2 were set to
Created, Added New Source, Set mode of inheritance
Mafalda Gomes (Genomics England Curator)gene: TECPR2 was added gene: TECPR2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal