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Adult onset dystonia, chorea or related movement disorder v1.125 AP1S2 Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'XL, biallelic in females' to 'XL, monoallelic in females'.

Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females.
Adult onset dystonia, chorea or related movement disorder v1.125 AP1S2 Arina Puzriakova Mode of inheritance for gene: AP1S2 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)
Adult onset dystonia, chorea or related movement disorder v1.124 AP1S2 Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 304340; Dystonia to Pettigrew syndrome, OMIM:304340
Adult onset dystonia, chorea or related movement disorder v0.101 AP1S2 Louise Daugherty Source Expert Review Red was added to AP1S2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.100 AP1S2 Louise Daugherty commented on gene: AP1S2: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset dystonia, chorea or related movement disorder v0.99 AP1S2 Louise Daugherty commented on gene: AP1S2: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset dystonia, chorea or related movement disorder v0.98 AP1S2 James Polke commented on gene: AP1S2: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: onset in infancy - mental retardation syndrome
Adult onset dystonia, chorea or related movement disorder v0.54 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 AP1S2 James Polke reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.52 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Adult onset dystonia, chorea or related movement disorder v0.51 AP1S2 Louise Daugherty Source London North GLH was added to AP1S2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.4 AP1S2 Ellen McDonagh Classified gene: AP1S2 as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.4 AP1S2 Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Structural basal ganglia disorders v1.10 panel.
Adult onset dystonia, chorea or related movement disorder v0.4 AP1S2 Ellen McDonagh Gene: ap1s2 has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.2 AP1S2 Ellen McDonagh Source Expert Review Red was added to AP1S2.
Added phenotypes Dystonia for gene: AP1S2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.2 AP1S2 Ellen McDonagh gene: AP1S2 was added
gene: AP1S2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 17617514; 18428203; 23756445
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5 304340