Hereditary Neuropathy - complex
Gene: SUCLA2EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Limited reports.Created: 10 Aug 2023, 3:56 a.m. | Last Modified: 10 Aug 2023, 3:56 a.m.
Panel Version: 0.251
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791; MIM#612073)
Publications
Sangavi Sivagnanasundram (Melbourne Health)
Neuropathy is not a feature of the condition and is not present in any reported individuals. Gene Reviews reports
Mitochondrial DNA depletion syndrome-5 is an autosomal recessive disorder characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction.Created: 9 Aug 2023, 11:47 p.m. | Last Modified: 9 Aug 2023, 11:47 p.m.
Panel Version: 0.237
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791; MIM#612073)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791
- MIM#612073)
- ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
- OMIM
- 603921
- Clinvar variants
- Variants in SUCLA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Genetic Epilepsy
- Regression
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sucla2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SUCLA2 were changed from ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791; MIM#612073); ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SUCLA2 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sucla2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SUCLA2 was added gene: SUCLA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy