Hereditary Spastic Paraplegia - adult onset
Gene: C19orf12EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family reported with SPG phenotype. However, spasticity is also a feature of the NBIA phenotype, which can be of variable age of onset, including in young adults.
Sources: Expert listCreated: 20 Sep 2020, 8:05 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 4, MIM# 614298
- Spastic paraplegia 43, autosomal recessive, MIM# 615043
- OMIM
- 614297
- Clinvar variants
- Variants in C19orf12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Neurodegeneration with brain iron accumulation
- Prepair 1000+
- Hereditary Neuropathy - complex
- Dystonia - complex
- Optic Atrophy
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c19orf12 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c19orf12 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C19orf12 was added gene: C19orf12 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to 20039086; 21981780; 23269600; 31087512 Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, MIM# 614298; Spastic paraplegia 43, autosomal recessive, MIM# 615043 Review for gene: C19orf12 was set to GREEN