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Intellectual disability

Gene: OGDHL

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote to Green at the next GMS panel update.

The NSRP1 gene is not yet associated with any phenotype in OMIM but has a 'moderate' disease confidence rating in G2P for 'OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia'.

At least 10 individuals from 9 unrelated families identified with biallelic variants in this gene (PMIDs: 28017472; 34800363). Main clinical features include mild-to-severe DD/ID (9/10), seizures (5/10), gait ataxia (5/10), profound bilateral sensorineural hearing loss (4/10), spasticity (3/10).
Created: 1 Aug 2022, 12:38 p.m. | Last Modified: 1 Aug 2022, 12:38 p.m.
Panel Version: 3.1643

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
  • Expert Review Amber
Phenotypes
  • Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
Tags
Q3_22_rating
OMIM
617513
Clinvar variants
Variants in OGDHL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: OGDHL.

1 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

1 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

1 Aug 2022, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: OGDHL were set to 34800363

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