| Panel | Mode of inheritance | Details |
|---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BIOTINIDASE DEFICIENCY 253260 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
Signed-off version 9.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Biotinidase deficiency 253260 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BIOTINIDASE DEFICIENCY |
Green in Intellectual disabilityComponent of the following Super Panels:
Signed-off version 11.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Biotinidase deficiency, 253260, BIOTINIDASE DEFICIENCY |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 9.29 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Biotinidase deficiency (Disorders of biotin metabolism), Biotinidase deficiency, lactic acidosis with seizures and eczema,immune deficiency |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 10.18 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Biotinidase deficiency, OMIM:253260, biotinidase deficiency, MONDO:0009665 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 6.46 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Biotinidase deficiency, OMIM:253260, optic atrophy, MONDO:0003608 |
R-numbers: R63 Signed-off version 5.17 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Biotinidase deficiency, 253260 |