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Intellectual disability

Gene: OGDHL

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OGDHL (oxoglutarate dehydrogenase like)
EnsemblGeneIds (GRCh38): ENSG00000197444
EnsemblGeneIds (GRCh37): ENSG00000197444
OMIM: 617513, Gene2Phenotype
OGDHL is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Created: 4 Dec 2021, 2:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
OMIM
617513
Clinvar variants
Variants in OGDHL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: OGDHL was added gene: OGDHL was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDHL were set to 34800363 Phenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment Review for gene: OGDHL was set to GREEN