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Paroxysmal central nervous system disorders v1.30 HTT Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Paroxysmal central nervous system disorders v1.30 HTT Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Paroxysmal central nervous system disorders v1.29 HTT Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease, 143100 to Huntington disease, OMIM:143100
Paroxysmal central nervous system disorders v1.28 HTT Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: HTT.
Tag currently-ngs-unreportable tag was added to gene: HTT.
Paroxysmal central nervous system disorders v0.146 HTT Rebecca Foulger Marked gene: HTT as ready
Paroxysmal central nervous system disorders v0.146 HTT Rebecca Foulger Gene: htt has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.146 HTT Rebecca Foulger Phenotypes for gene: HTT were changed from Huntington disease to Huntington disease, 143100
Paroxysmal central nervous system disorders v0.145 HTT Rebecca Foulger Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.27 HTT Rebecca Foulger Source NHS GMS was added to HTT.
Paroxysmal central nervous system disorders v0.26 HTT Rebecca Foulger commented on gene: HTT: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.25 HTT James Polke reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.24 HTT Rebecca Foulger Source London North GLH was added to HTT.
Paroxysmal central nervous system disorders v0.23 HTT Rebecca Foulger reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.22 HTT Tracy Lester reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease, 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.21 HTT Rebecca Foulger Source Wessex and West Midlands GLH was added to HTT.
Paroxysmal central nervous system disorders v0.18 FAAHP1 Louise Daugherty commented on gene: FAAHP1: From HGNC the authors PMID:30929760 specify that they used hg19in their CNV analysis (GRCh37). Looking in GRCh37 annotations in the archived version of Ensembl, gene they call ‘FAAH-OUT’ was not annotated at the time, except as http://feb2014.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232022;r=1:46897801-46911193;tl=YL1ImqsrtgZ7MKxn-5146184-727716019. Doing a BLAST search with the FAAH cDNA on GRCh38 in Ensembl 95 detected both FAAH (ENSG00000117480) and a gene now annotated as ENSG00000232022 in the appropriate location of the genome. HGNC named this as FAAHP1 in 2014. FAAH-OUT is an alias for FAAHP1.
Paroxysmal central nervous system disorders v0.3 HTT Ellen McDonagh Added phenotypes Huntington disease for gene: HTT
Paroxysmal central nervous system disorders v0.2 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HTT were set to Huntington disease
Mode of pathogenicity for gene: HTT was set to Other - please provide details in the comments