Adult onset neurodegenerative disorder
Gene: GJC2
Leukodystrophy, hypomyelinating, 2 - characteristic clinical symptoms of Pelizaeus-Merzbacher disease, onset infancy. Spastic paraplegia 44, autosomal recessive - mild symptoms were reported in the first or second decades, there was more severe progression with disability in the third decade - single family in OMIM. Milder subclinical leukodystrophy reported in a second family.AmberCreated: 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
Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia; Spastic paraplegia 44, autosomal recessive
Publications
Onset Neonatal or in Infancy.Created: 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
Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia; Spastic paraplegia 44, autosomal recessive
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 GJC2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to GJC2.
Source Yorkshire and North East GLH was added to GJC2.
Source NHS GMS was added to GJC2.
Source London North GLH was added to GJC2.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
gene: GJC2 was added gene: GJC2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009) Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia