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Hereditary spastic paraplegia, childhood onset v8.26 GJC2 Ida Ertmanska Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating,2, 608804, AR; Spastic paraplegia 44, autosomal recessive, 613206, AR; Lymphatic malformation 3, 613480, AD to ?Spastic paraplegia 44, autosomal recessive , OMIM:613206; Leukodystrophy, hypomyelinating, 2, OMIM:608804
Hereditary spastic paraplegia, childhood onset v8.25 GJC2 Ida Ertmanska Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009); 19056803
Hereditary spastic paraplegia, childhood onset v8.24 GJC2 Ida Ertmanska reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19056803, 22833003, 31431325, 37915394; Phenotypes: ?Spastic paraplegia 44, autosomal recessive , OMIM:613206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v2.123 GJC2 Arina Puzriakova Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.166 GJC2 Louise Daugherty commented on gene: GJC2: Red gene with Green 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.
Hereditary spastic paraplegia, childhood onset v1.165 GJC2 Louise Daugherty Source Expert Review Amber was added to GJC2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.134 GJC2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, childhood onset v1.134 GJC2 Louise Daugherty Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Hereditary spastic paraplegia, childhood onset v1.134 GJC2 Louise Daugherty Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Hereditary spastic paraplegia, childhood onset v1.75 GJC2 Louise Daugherty Source Yorkshire and North East GLH was added to GJC2.
Hereditary spastic paraplegia, childhood onset v1.74 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: 19056803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.74 GJC2 Louise Daugherty commented on gene: GJC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia, childhood onset v1.55 GJC2 Louise Daugherty commented on gene: GJC2: Red rating on Hereditary spastic paraplegia panel 1.198

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
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Amber rating submitted.

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).
Ellen McDonagh (Genomics England Curator), 14 Jun 2016

Only a single family described with this phenotype, many more cases with the above phenotypes
emma baple (Genomics England Curator), 7 Feb 2016 Red rating submitted
Hereditary spastic paraplegia, childhood onset v1.55 GJC2 Louise Daugherty Classified gene: GJC2 as Red List (low evidence)
Hereditary spastic paraplegia, childhood onset v1.55 GJC2 Louise Daugherty Gene: gjc2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia, childhood onset v1.48 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.19 GJC2 Louise Daugherty Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating,2, 608804, AR; Spastic paraplegia 44, autosomal recessive, 613206, AR; Lymphatic malformation 3, 613480, AD
Hereditary spastic paraplegia, childhood onset v1.18 GJC2 Louise Daugherty Mode of inheritance for gene: GJC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.17 GJC2 Louise Daugherty Classified gene: GJC2 as Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v1.17 GJC2 Louise Daugherty Gene: gjc2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, childhood onset v1.6 GJC2 James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating,2, 608804, AR, Spastic paraplegia 44, autosomal recessive, 613206, AR, Lymphatic malformation 3, 613480, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.5 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Hereditary spastic paraplegia, childhood onset v1.4 GJC2 Louise Daugherty Source London North GLH was added to GJC2.
Hereditary spastic paraplegia, childhood onset v1.3 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
Hereditary spastic paraplegia, childhood onset v0.6 GJC2 Sarah Leigh gene: GJC2 was added
gene: GJC2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red
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 Spastic paraplegia 44, autosomal recessive