This Panel is marked as Retired
Epilepsy Plus
Gene: BTD
BTD (biotinidase)
EnsemblGeneIds (GRCh38): ENSG00000169814
EnsemblGeneIds (GRCh37): ENSG00000169814
OMIM: 609019, Gene2Phenotype
BTD is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000169814
EnsemblGeneIds (GRCh37): ENSG00000169814
OMIM: 609019, Gene2Phenotype
BTD is in 12 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 609019
- Clinvar variants
- Variants in BTD
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic hearing loss
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Fetal anomalies
- DDG2P
- Optic neuropathy
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)BTD was added to Epilepsy Pluspanel. Sources: Expert,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BTD was created by ellenmcdonagh