Optic Atrophy

Gene: UBA5

Red List (low evidence)

UBA5 (ubiquitin like modifier activating enzyme 5)
EnsemblGeneIds (GRCh38): ENSG00000081307
EnsemblGeneIds (GRCh37): ENSG00000081307
OMIM: 610552, Gene2Phenotype
UBA5 is in 11 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

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 EE
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 44 (MIM#617132)
OMIM
610552
Clinvar variants
Variants in UBA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uba5 has been classified as Red List (Low Evidence).

9 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)

9 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBA5 were set to

9 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uba5 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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