Activity

Filter

Cancel
Date Panel Item Activity
94 actions
Amyotrophic lateral sclerosis/motor neuron disease v1.29 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
Amyotrophic lateral sclerosis/motor neuron disease v1.27 AR_CAG Louise Daugherty GRCh38 position for AR_CAG was changed from 67545318-67545383 to 67545316-67545383.
Mode of inheritance for STR: AR_CAG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Green List (high evidence) to Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.26 NOP56_GGCCTG Arianna Tucci Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153
Amyotrophic lateral sclerosis/motor neuron disease v1.25 NOP56_GGCCTG Arianna Tucci Repeated Sequence for NOP56_GGCCTG was changed from CAG to GGCCTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.24 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Amyotrophic lateral sclerosis/motor neuron disease v1.23 NOP56_GGCCTG Louise Daugherty Tag STR tag was added to STR: NOP56_GGCCTG.
Amyotrophic lateral sclerosis/motor neuron disease v1.23 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as No list
Amyotrophic lateral sclerosis/motor neuron disease v1.23 ATXN2_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Amyotrophic lateral sclerosis/motor neuron disease v1.23 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been removed from the panel.
Amyotrophic lateral sclerosis/motor neuron disease v1.22 NOP56_GGCCTG Arianna Tucci Classified STR: NOP56_GGCCTG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.22 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci Marked STR: NOP56_GGCCTG as ready
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Red List (Low Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Expert Review
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Arianna Tucci classified C9orf72 as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Arianna Tucci classified C9orf72 as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Arianna Tucci classified C9orf72 as Red List (low evidence)
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci classified AR as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci marked STR: AR_CAG as ready
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh reviewed STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh commented on STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease AR Ellen McDonagh commented on STR: AR_CAG
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Ellen McDonagh edited their review of STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease C9orf72 Ellen McDonagh Added STR to panel
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh commented on STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh Added STR to panel
Amyotrophic lateral sclerosis/motor neuron disease AR Ellen McDonagh Added STR to panel
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci marked AR as ready
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci classified AR as green
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci added AR to panel
Amyotrophic lateral sclerosis/motor neuron disease AR Arianna Tucci reviewed AR
Amyotrophic lateral sclerosis/motor neuron disease SETX Sarah Leigh commented on SETX
Amyotrophic lateral sclerosis/motor neuron disease Alice Gardham promoted panel to version 1
Amyotrophic lateral sclerosis/motor neuron disease NEFH Alice Gardham marked NEFH as ready
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Alice Gardham marked SIGMAR1 as ready
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Alice Gardham commented on SIGMAR1
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Alice Gardham classified SIGMAR1 as green
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Alice Gardham marked SLC52A1 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Alice Gardham commented on SLC52A1
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Alice Gardham classified SLC52A1 as red
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham marked TBK1 as ready
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham classified TBK1 as green
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham marked SLC52A3 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham classified SLC52A3 as green
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham marked SLC52A2 as ready
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham classified SLC52A2 as green
Amyotrophic lateral sclerosis/motor neuron disease SETX Alice Gardham marked SETX as ready
Amyotrophic lateral sclerosis/motor neuron disease SETX Alice Gardham classified SETX as green
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham marked PFN1 as ready
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham classified PFN1 as green
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham marked HNRNPA1 as ready
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham classified HNRNPA1 as green
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Alice Gardham commented on HNRNPA1
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham marked ERBB4 as ready
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham classified ERBB4 as red
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Arianna Tucci reviewed PFN1
Amyotrophic lateral sclerosis/motor neuron disease NEFH Arianna Tucci reviewed NEFH
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Arianna Tucci reviewed HNRNPA1
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Arianna Tucci reviewed ERBB4
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Alice Gardham reviewed SLC52A3
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Alice Gardham reviewed SLC52A2
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Alice Gardham reviewed TBK1
Amyotrophic lateral sclerosis/motor neuron disease TARDBP Alice Gardham classified TARDBP as green
Amyotrophic lateral sclerosis/motor neuron disease TARDBP Alice Gardham reviewed TARDBP
Amyotrophic lateral sclerosis/motor neuron disease SETX Alice Gardham reviewed SETX
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Alice Gardham reviewed PFN1
Amyotrophic lateral sclerosis/motor neuron disease NEFH Alice Gardham reviewed NEFH
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Alice Gardham reviewed ERBB4
Amyotrophic lateral sclerosis/motor neuron disease VCP Ellen McDonagh classified VCP as green
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Ellen McDonagh classified TBK1 as amber
Amyotrophic lateral sclerosis/motor neuron disease TBK1 Ellen McDonagh commented on TBK1
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Ellen McDonagh commented on SIGMAR1
Amyotrophic lateral sclerosis/motor neuron disease SIGMAR1 Ellen McDonagh classified SIGMAR1 as amber
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Ellen McDonagh classified PFN1 as amber
Amyotrophic lateral sclerosis/motor neuron disease PFN1 Ellen McDonagh commented on PFN1
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Ellen McDonagh classified HNRNPA1 as amber
Amyotrophic lateral sclerosis/motor neuron disease HNRNPA1 Ellen McDonagh commented on HNRNPA1
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Ellen McDonagh classified ERBB4 as amber
Amyotrophic lateral sclerosis/motor neuron disease ERBB4 Ellen McDonagh commented on ERBB4
Amyotrophic lateral sclerosis/motor neuron disease CHCHD10 Ellen McDonagh classified CHCHD10 as red
Amyotrophic lateral sclerosis/motor neuron disease CHCHD10 Ellen McDonagh commented on CHCHD10
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh marked ATXN2 as ready
Amyotrophic lateral sclerosis/motor neuron disease ATXN2 Ellen McDonagh classified ATXN2 as red
Amyotrophic lateral sclerosis/motor neuron disease SLC52A3 Ellen McDonagh classified SLC52A3 as amber
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Ellen McDonagh commented on SLC52A2
Amyotrophic lateral sclerosis/motor neuron disease SLC52A2 Ellen McDonagh classified SLC52A2 as amber
Amyotrophic lateral sclerosis/motor neuron disease SLC52A1 Ellen McDonagh classified SLC52A1 as amber
Amyotrophic lateral sclerosis/motor neuron disease TARDBP Ellen McDonagh classified TARDBP as amber
Amyotrophic lateral sclerosis/motor neuron disease SETX Ellen McDonagh edited their review of SETX
Amyotrophic lateral sclerosis/motor neuron disease DCTN1 Ellen McDonagh marked DCTN1 as ready
Amyotrophic lateral sclerosis/motor neuron disease DCTN1 Ellen McDonagh marked DCTN1 as ready