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Intellectual disability

Gene: SUCLA2

Amber List (moderate evidence)

SUCLA2 (succinate-CoA ligase ADP-forming beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 19 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Although sufficient number of cases with relevant clinical presentation, psychomotor delay is a component of a broader phenotype. Patients are more likely to be recognised via other routes (Metabolic/White Matter Disorders/Mitochondrial) - SUCLA2 is already Green on these PanelApp panels.

Therefore, rating Amber on the ID panel.
Created: 16 Sep 2020, 9:36 a.m. | Last Modified: 16 Sep 2020, 9:36 a.m.
Panel Version: 3.299

Zornitza Stark (Australian Genomics)

Green List (high evidence)

ID is part of the phenotype of this mitochondrial disorder.
Sources: Expert list
Created: 29 Feb 2020, 6:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073

Publications

History Filter Activity

16 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sucla2 has been classified as Amber List (Moderate Evidence).

29 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SUCLA2 was added gene: SUCLA2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 27913098; 15877282; 23759946; 17287286; 17301081 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073 Review for gene: SUCLA2 was set to GREEN