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Intellectual disability


Red List (low evidence)

ACADSB (acyl-CoA dehydrogenase short/branched chain)
EnsemblGeneIds (GRCh38): ENSG00000196177
EnsemblGeneIds (GRCh37): ENSG00000196177
OMIM: 600301, Gene2Phenotype
ACADSB is in 7 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

Some patients are reported as having DD; however can also be asymptomatic.
Created: 27 Jan 2020, 4:47 a.m. | Last Modified: 27 Jan 2020, 4:47 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

2-methylbutyrylglycinuria, MIM# 610006

History Filter Activity

28 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACADSB was added gene: ACADSB was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: ACADSB was set to