Hereditary neuropathy
Gene: AP1S1
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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.Created: 5 Dec 2019, 10:53 a.m. | Last Modified: 5 Dec 2019, 11:35 a.m.
Panel Version: 1.339
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Same homozygous mutation described in 4 families form same geographical regionCreated: 21 Jun 2019, 2:34 p.m. | Last Modified: 21 Jun 2019, 2:34 p.m.
Panel Version: 1.331
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Publications
Source Expert Review Amber was added to AP1S1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Gene: ap1s1 has been classified as Red List (Low Evidence).
Gene: ap1s1 has been classified as Green List (High Evidence).
Publications for gene: AP1S1 were set to
Phenotypes for gene: AP1S1 were changed from to MEDNIK syndrome, 609313; Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Mode of inheritance for gene: AP1S1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to AP1S1.
gene: AP1S1 was added gene: AP1S1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: AP1S1 was set to