Optic Atrophy
Gene: UBA5
No evidence of optic atrophy reported in previously published cases
UBA5 well reported to cause infantile onset EE. ID, seizures, microcephaly observed in majority of patients.
PMID: 28965491: 2 sibs with early-onset epileptic encephalopathy. Opthalmologic examinations showed no abnormalities of the retina or optic nerves.
PMID: 27545674: 9 patients with severe infantile onset encehalopathy. Microcephaly, epilepsy and develop spasticity observed in most individuals
PMID: 27545681: 5 individuals with EECreated: 9 Apr 2020, 6:51 a.m. | Last Modified: 9 Apr 2020, 6:51 a.m.
Panel Version: 0.44
Phenotypes
Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Publications
Gene: uba5 has been classified as Red List (Low Evidence).
Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Publications for gene: UBA5 were set to
Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: uba5 has been classified as Red List (Low Evidence).
gene: UBA5 was added gene: UBA5 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UBA5 was set to Unknown