Adult onset neurodegenerative disorder
Gene: CHMP1A
Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI of all patients showed a small cerebellum, thin brainstem with short pons and long medulla, decreased cerebral white matter, and a thin corpus callosum. There was relative preservation of the cerebellar folia. These changes did not appear to be progressive and were more consistent with a developmental rather than a degenerative process. Not progressive so 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
Pontocerebellar hypoplasia, type 8, 614961
Onset at birthCreated: 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
Pontocerebellar hypoplasia, type 8, 614961
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 CHMP1A. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to CHMP1A.
Source Yorkshire and North East GLH was added to CHMP1A.
Source NHS GMS was added to CHMP1A.
Source London North GLH was added to CHMP1A.
Louise Daugherty: Comment on phenotypes: amended
Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
gene: CHMP1A was added gene: CHMP1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961)