Structural basal ganglia disorders
Gene: SUCLG1EnsemblGeneIds (GRCh38): ENSG00000163541
EnsemblGeneIds (GRCh37): ENSG00000163541
OMIM: 611224, Gene2Phenotype
SUCLG1 is in 14 panels
3 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- OMIM
- 611224
- Clinvar variants
- Variants in SUCLG1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Hyperammonaemia
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Manju Kurian (UCL-Institute of Child Health)SUCLG1 was added to Structural basal ganglia disorderspanel. Sources: Literature
Created
Manju Kurian (UCL-Institute of Child Health)SUCLG1 was created by Manju