Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
R-numbers: R57 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 |
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 |
R-numbers: R63 Signed-off version 3.105 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 |
R-numbers: R15 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 |