Hereditary neuropathy NOT PMP22 copy numberGene: POLR3A
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - ataxia with neuropathy / Broader phenotype: spastic ataxia with abnormal nerve conduction in 8/14 cases
Created: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
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/.
Created: 6 Dec 2019, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications (hypodontia, severe peridontal disease. Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain. Abnormal nerve conduction in 8 out of 14 cases.
Source Expert Review Amber was added to POLR3A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: POLR3A was added gene: POLR3A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 28459997 Phenotypes for gene: POLR3A were set to Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications