Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Holocarboxylase synthetase deficiency, 253270, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency, 253270, lactic acidosis with seizures and eczema, immune deficiency, Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Holocarboxylase synthetase deficiency, 253270 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Holocarboxylase synthetase deficiency, 253270 |