Hereditary spastic paraplegia

Gene: GJC2

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019

Created: 3 May 2019, 8:35 a.m.

I don't know

Lots of accounts linking this gene with "Pelizaeus-Merzbacher-like" disorder. Needs more expert curation in case PLP is a ddx for HSP, but given that PLP1 isnt in HSP panel this looks unlikely

Created: 27 Nov 2018, 10:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: "GJC2 encodes a gap junction protein which plays a key role in central myelination and is involved in peripheral myelination in humans. Mutations in this gene have been associated with autosomal recessive Pelizaeus-Merzbacher-like disease-1 (SPG44)." It is a confirmed DD gene for spastic paraplegia 44, with monoallelic inheritance (OMIM states recessive inheritance).

Created: 14 Jun 2016, 9:48 a.m.

Red List (low evidence)

Only a single family described with this phenotype, many more cases with the above phenotypes

Created: 7 Feb 2016, 8 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pelizaeus-Merzbacher disease (biallelic); lymphoedema (monoallelic)

Publications

• 19056803