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Childhood onset hereditary spastic paraplegia v4.26 | CCDC82 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC82. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.26 | CCDC82 | Achchuthan Shanmugasundram commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.10 | CCDC82 | Achchuthan Shanmugasundram Classified gene: CCDC82 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.10 | CCDC82 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and hence this gene should be rated AMBER. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.10 | CCDC82 | Achchuthan Shanmugasundram Gene: ccdc82 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v4.9 | CCDC82 |
Achchuthan Shanmugasundram 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 Added comment: 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: Literature |