Adult onset neurodegenerative disorder
Gene: TPP1
CLN2 - late infantile-onset (LINCL) form with onset between 2 and 4 years of age. Red. SCA7 - onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life, redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Cerebellar ataxia phenotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Source Expert Review Red was added to TPP1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to TPP1.
Source Yorkshire and North East GLH was added to TPP1.
Source NHS GMS was added to TPP1.
Source London North GLH was added to TPP1.
Louise Daugherty: Comment on phenotypes: amended
Phenotypes for gene: TPP1 were changed from Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
gene: TPP1 was added gene: TPP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500)