Deafness_IsolatedAndComplex
Gene: OGDHL
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yoon-Bellen neurodevelopmental syndrome, MIM# 619701
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: LiteratureCreated: 3 Dec 2021, 3:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment and ataxia
Publications
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
Gene: ogdhl has been classified as Green List (High Evidence).
Gene: ogdhl has been classified as Green List (High Evidence).
gene: OGDHL was added gene: OGDHL was added to Deafness_IsolatedAndComplex. 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