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Hereditary neuropathy or pain disorder v6.148 AP1S1 Sarah Leigh Tag Q3_24_promote_green was removed from gene: AP1S1.
Hereditary neuropathy or pain disorder v6.148 AP1S1 Sarah Leigh reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 AP1S1 Sarah Leigh Source Expert Review Green was added to AP1S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.100 AP1S1 Arina Puzriakova Publications for gene: AP1S1 were set to 19057675
Hereditary neuropathy or pain disorder v6.51 AP1S1 Arina Puzriakova Classified gene: AP1S1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.51 AP1S1 Arina Puzriakova Added comment: Comment on list classification: Neuropathy in adulthood is a feature of MEDNIK syndrome. >3 unrelated cases have been reported. The scope of this panel has now been expanded to complex forms of neuropathy and therefore this gene can be promoted to Green at the next GMS panel update.
Hereditary neuropathy or pain disorder v6.51 AP1S1 Arina Puzriakova Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.47 AP1S1 Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: AP1S1.
Hereditary neuropathy or pain disorder v6.47 AP1S1 Arina Puzriakova Phenotypes for gene: AP1S1 were changed from MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma to MEDNIK syndrome, OMIM:609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary neuropathy or pain disorder v5.19 AP1S1 Alexander Rossor Deleted their review
Hereditary neuropathy or pain disorder v5.19 AP1S1 Alexander Rossor commented on gene: AP1S1: Scope of panel has been extended. 4 families with same splice site variant
Hereditary neuropathy or pain disorder v3.83 AP1S1 Alexander Rossor Deleted their comment
Hereditary neuropathy or pain disorder v3.83 AP1S1 Alexander Rossor commented on gene: AP1S1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
Hereditary neuropathy or pain disorder v0.25 AP1S1 Louise Daugherty Classified gene: AP1S1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.25 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty commented on gene: AP1S1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.1 AP1S1 Ellen McDonagh gene: AP1S1 was added
gene: AP1S1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma