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  3. FBXO28
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Progressive Myoclonic Epilepsy

Gene: FBXO28

Green List (high evidence)
FBXO28 (F-box protein 28)
EnsemblGeneIds (GRCh38): ENSG00000143756
EnsemblGeneIds (GRCh37): ENSG00000143756
OMIM: 609100, Gene2Phenotype
FBXO28 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PME reported.
Created: 12 Apr 2022, 7:12 a.m. | Last Modified: 12 Apr 2022, 7:12 a.m.
Panel Version: 0.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 100 , MIM#619777

Created: 12 Apr 2022, 7:12 a.m.
Last Modified: 12 Apr 2022, 7:12 a.m.
Panel version: 0.13

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 8 Apr 2022, 1:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Apr 2022, 1:41 a.m.

Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 100 , MIM#619777
OMIM
609100
Clinvar variants
Variants in FBXO28
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

12 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxo28 has been classified as Green List (High Evidence).

12 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXO28 were changed from Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy to Developmental and epileptic encephalopathy 100 , MIM#619777

12 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxo28 has been classified as Green List (High Evidence).

8 Apr 2022, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: FBXO28 was added gene: FBXO28 was added to Progressive Myoclonic Epilepsy. Sources: Literature Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO28 were set to 33280099 Phenotypes for gene: FBXO28 were set to Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy Penetrance for gene: FBXO28 were set to unknown Review for gene: FBXO28 was set to GREEN gene: FBXO28 was marked as current diagnostic