Childhood onset hereditary spastic paraplegia
Gene: CCDC82
The OMIM entry for this gene is OMIM:619870, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.Created: 16 Oct 2023, 8:28 p.m. | Last Modified: 16 Oct 2023, 8:28 p.m.
Panel Version: 4.26
Comment on list classification: There are two unrelated cases and hence this gene should be rated AMBER.Created: 6 Jun 2023, 2:26 p.m. | Last Modified: 6 Jun 2023, 2:26 p.m.
Panel Version: 4.10
PMID: 35118659 reported two siblings presenting with global global developmental delay (last evaluation at 4 years and 9 months) and spasticity. They also had a common history of infantile spasms with the elder developing GTC convulsions with spontaneous resolution and both presented with microcephaly (<-2 and <-3SD). They harboured homozygous variant c.535C>T ( p.Arg179Ter).
PMID: 35373332 reported a 21 years old male who presented with features included short stature, intellectual disability, spastic paraparesis (at the age of 3 years). Gelastic seizures were suspected but not confirmed (repeated normal EEGs). This patient harboured a homozygous frameshift CCDC82 variant c.183del (p.Phe61Leufs*27) and the parents were heterozygous carriers. There was another homozygous variant, albeit classified as VUS and not thought to fit the clinical presentation.
Sources: LiteratureCreated: 6 Jun 2023, 2:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092; hereditary spastic paraplegia, MONDO:0019064
Publications
Tag gene-checked tag was added to gene: CCDC82.
Gene: ccdc82 has been classified as Amber List (Moderate Evidence).
gene: CCDC82 was added gene: CCDC82 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC82 were set to 35118659; 35373332 Phenotypes for gene: CCDC82 were set to neurodevelopmental disorder, MONDO:0700092; hereditary spastic paraplegia, MONDO:0019064 Review for gene: CCDC82 was set to AMBER