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  2. Intellectual disability syndromic and non-syndromic
  3. OGDHL
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Intellectual disability syndromic and non-syndromic

Gene: OGDHL

Green List (high evidence)
OGDHL (oxoglutarate dehydrogenase like)
EnsemblGeneIds (GRCh38): ENSG00000197444
EnsemblGeneIds (GRCh37): ENSG00000197444
OMIM: 617513, Gene2Phenotype
OGDHL is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Yoon-Bellen neurodevelopmental syndrome, MIM# 619701

Created: 16 Jan 2022, 11:36 p.m.
Last Modified: 16 Jan 2022, 11:36 p.m.
Panel version: 0.4439

Melanie Marty (Victorian Clinical Genetics Services)

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.
Created: 3 Dec 2021, 3:50 a.m. | Last Modified: 3 Dec 2021, 3:50 a.m.
Panel Version: 0.4322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment

Publications

Created: 3 Dec 2021, 3:49 a.m.
Last Modified: 3 Dec 2021, 3:49 a.m.
Panel version: 0.4322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Yoon-Bellen neurodevelopmental syndrome, MIM# 619701
  • 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

16 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ogdhl has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ogdhl has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 0

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

Melanie Marty (Victorian Clinical Genetics Services)

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