Hereditary neuropathy or pain disorder
Gene: TBCEEnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 9 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence available (four unrelated cases) for the association of this gene with neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.Created: 4 Nov 2024, 4 p.m. | Last Modified: 4 Nov 2024, 4:20 p.m.
Panel Version: 6.66
PMID:27666369 reported six individuals from four apparently unrelated families originating from the same geographical area in Italy near Naples with a similar infantile-onset neurodegenerative disorder. They were either identified with the same homozygous p.Ile155Asn variant (five patients from three families) or with a compound heterozygous variant involving the same variant with another variant (p.Leu360Ter) in one patient. Electrophysiologic and electromyographic studies in all patients were consistent with a motor neuropathy. There is also functional evidence available.
This gene has been associated with relevant phenotypes in OMIM (MIM #617207) and Gene2Phenotype (with 'strong' rating on the DD panel). MIM #617207 records axonal peripheral neuropathy as one of the clinical manifestations.Created: 4 Nov 2024, 3:59 p.m. | Last Modified: 4 Nov 2024, 4:19 p.m.
Panel Version: 6.66
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207
Publications
Alexander Rossor (UCL Institute of Neurology)
Sources: Expert listCreated: 19 Oct 2024, 11:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
encephalopathy; peripheral neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207
- OMIM
- 604934
- Clinvar variants
- Variants in TBCE
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: TBCE. Tag Q3_24_NHS_review was removed from gene: TBCE.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to TBCE. Source Expert Review Green was added to TBCE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: tbce has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: TBCE. Tag Q3_24_NHS_review tag was added to gene: TBCE.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TBCE were changed from encephalopathy; peripheral neuropathy to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM:617207
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: TBCE was added gene: TBCE was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to 27666369 Phenotypes for gene: TBCE were set to encephalopathy; peripheral neuropathy Penetrance for gene: TBCE were set to Complete Review for gene: TBCE was set to GREEN