Adult onset hereditary spastic paraplegia
Gene: GJC2
Single family with adult onset reported. Additional very late onset biallelic patient identified using Sheffield panel.Created: 9 May 2019, 5:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
1 report (Orthmann-Murphy et al 2009. Lots of links with 'Pelizaeus-Merzbacher-like disease' on HGMD, but as PLP1 isnt on the HSP panelApp panel this seems an unlikely differential diagnosisCreated: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 44, autosomal recessive
Publications
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
reported in several unrealted families with LEUKODYSTROPHY, HYPOMYELINATING, 2 and clincial feature of spasticity, 3 affected members of an Italian family with spastic paraplegia-44 ,multiple affected members of a large 3-generation family with autosomal dominant hereditary lymphedema. In sheffield HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Phenotypes
Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD
Source Expert Review Amber was added to GJC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR to Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Leukodystrophy, hypomyelinating, 2, 608804, AR
Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Source Yorkshire and North East GLH was added to GJC2.
Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2 Publications for gene GJC2 were changed from to Orthmann-Murphy et al. (2009)
Source South West GLH was added to GJC2.
Source Expert Review Green was added to GJC2. Added phenotypes Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR for gene: GJC2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to GJC2.
gene: GJC2 was added gene: GJC2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: GJC2 was set to