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Intellectual disability v8.118 TDP1 Sarah Leigh Classified gene: TDP1 as Amber List (moderate evidence)
Intellectual disability v8.118 TDP1 Sarah Leigh Added comment: Comment on list classification: This gene remains amber, as there are only two disease associated variants have been reported (PMID: 12244316;31182267;39576382).
Intellectual disability v8.118 TDP1 Sarah Leigh Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.117 TDP1 Sarah Leigh Added comment: Comment on publications: PMID: 39576382 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.117 TDP1 Sarah Leigh Publications for gene: TDP1 were set to 12244316; 31182267; 39576382
Intellectual disability v8.116 TDP1 Sarah Leigh Entity copied from Hereditary neuropathy or pain disorder v6.158
Intellectual disability v8.116 TDP1 Sarah Leigh gene: TDP1 was added
gene: TDP1 was added to Intellectual disability. Sources: Expert Review Amber,South West GLH,UKGTN,Emory Genetics Laboratory,Expert list,NHS GMS
founder-effect tags were added to gene: TDP1.
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 12244316; 31182267; 39576382
Phenotypes for gene: TDP1 were set to ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250
Intellectual disability v3.0 CTDP1 Louise Daugherty Tag watchlist was removed from gene: CTDP1.
Intellectual disability v3.0 CTDP1 Louise Daugherty commented on gene: CTDP1
Intellectual disability CTDP1 BRIDGE consortium edited their review of CTDP1
Intellectual disability CTDP1 BRIDGE consortium edited their review of CTDP1
Intellectual disability CTDP1 BRIDGE consortium reviewed CTDP1