Hereditary Spastic Paraplegia - adult onset
Gene: GJC2EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The primary phenotype associated with this gene is Leukodystrophy, hypomyelinating, 2, MIM# 608804, a childhood-onset disorder where spasticity is a feature. One family reported in PMID 19056803 with an SPG phenotype, and another adult in 23684670 with spasticity and leukodystrophy.Created: 20 Sep 2020, 8:42 a.m. | Last Modified: 20 Sep 2020, 8:42 a.m.
Panel Version: 0.32
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 44, autosomal recessive, MIM# 613206
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 2, 608804, AR
- Spastic paraplegia 44, autosomal recessive 613206, AR
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Lymphoedema_nonsyndromic
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR to Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GJC2 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GJC2 was added gene: GJC2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2, 608804, AR; Spastic paraplegia 44, autosomal recessive 613206, AR