Arthrogryposis
Gene: TBCDComment on list classification: Maintaining the Red rating on this panel as curation of published literature revealed only a single report of an individual with multiple arthrogryposis (individual II-2 from PMID:27666374). This disorder is better represented by other panels for which this gene is already Green (Genetic epilepsy syndromes, Intellectual disability, etc).Created: 4 Jan 2021, 3:53 p.m. | Last Modified: 4 Jan 2021, 3:53 p.m.
Panel Version: 3.36
Arthrogryposis is a reported feature.Created: 12 Jul 2020, 11:05 a.m. | Last Modified: 12 Jul 2020, 11:05 a.m.
Panel Version: 3.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM# 617193
Publications
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Publications for gene: TBCD were set to
Gene: tbcd has been classified as Red List (Low Evidence).
Mode of inheritance for gene: TBCD was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: TBCD was added gene: TBCD was added to Arthrogryposis. Sources: Expert Review Red Mode of inheritance for gene: TBCD was set to