Hereditary spastic paraplegia - adult onset

Gene: GJC2

Amber List (moderate evidence)

GJC2 (gap junction protein gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

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

Chris Buxton (North Bristol NHS Trust)

I don't know

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 diagnosis
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 44, autosomal recessive

Publications

  • Orthmann-Murphy et al. (2009)

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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 panel
Created: 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

History Filter Activity

21 May 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to GJC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

13 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GJC2.

27 Apr 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2 Publications for gene GJC2 were changed from to Orthmann-Murphy et al. (2009)

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GJC2.

25 Apr 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

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)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GJC2.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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