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Paroxysmal central nervous system disorders v1.40 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Paroxysmal central nervous system disorders v1.38 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Paroxysmal central nervous system disorders v1.20 ATN1_CAG Arina Puzriakova Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Paroxysmal central nervous system disorders v1.19 ATN1 Arina Puzriakova Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy, 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Paroxysmal central nervous system disorders v1.18 ATN1 Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATN1.
Tag currently-ngs-unreportable tag was added to gene: ATN1.
Paroxysmal central nervous system disorders v1.18 ATN1 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Paroxysmal central nervous system disorders v1.18 ATN1 Arina Puzriakova Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Paroxysmal central nervous system disorders v0.162 ATN1_CAG Rebecca Foulger Classified STR: ATN1_CAG as Red List (low evidence)
Paroxysmal central nervous system disorders v0.162 ATN1_CAG Rebecca Foulger Str: atn1_cag has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.157 ATN1_CAG Rebecca Foulger commented on STR: ATN1_CAG: Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ATN1_CAG. Suggested rating: ?; Comments provided: Triplet repeat. Primarily an ataxia gene. Also ataxia is not episodic/paroxysmal in nature.
Paroxysmal central nervous system disorders v0.140 ATN1 Rebecca Foulger Marked gene: ATN1 as ready
Paroxysmal central nervous system disorders v0.140 ATN1 Rebecca Foulger Gene: atn1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.140 ATN1 Rebecca Foulger Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy to Dentatorubro-pallidoluysian atrophy, 125370
Paroxysmal central nervous system disorders v0.94 ATN1_CAG Rebecca Foulger reviewed STR: ATN1_CAG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.27 ATN1 Rebecca Foulger Source NHS GMS was added to ATN1.
Paroxysmal central nervous system disorders v0.26 ATN1 Rebecca Foulger commented on gene: ATN1: 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 ATN1 James Polke reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.24 ATN1 Rebecca Foulger Source London North GLH was added to ATN1.
Paroxysmal central nervous system disorders v0.23 ATN1 Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.22 ATN1 Tracy Lester reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.21 ATN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATN1.
Paroxysmal central nervous system disorders v0.9 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Paroxysmal central nervous system disorders v0.9 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.8 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Paroxysmal central nervous system disorders v0.3 ATN1 Ellen McDonagh Added phenotypes Dentatorubro-pallidoluysian atrophy for gene: ATN1
Paroxysmal central nervous system disorders v0.2 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments