Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Congenital hypothyroidismR-numbers: R145 Signed-off version 2.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Panhypopiuitarism, GH and evolving TSH, ACTH, LH/FSH deficiency, septo-optic dysplasia, anterior pituitary, ectopic posterior pituitary, agenesis of corpus callous, optic nerve hypoplasia, Pituitary hormone deficiency, combined, 5, 182230 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Septooptic dysplasia, OMIM:182230, Septooptic dysplasia, MONDO:0008428 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Growth hormone deficiency with pituitary anomalies, OMIM:182230, Pituitary hormone deficiency, combined, 5, OMIM:182230, Septooptic dysplasia, OMIM:182230 |
Green in Pituitary hormone deficiencyR-numbers: R159 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Growth hormone deficiency with pituitary anomalies, OMIM:182230, Pituitary hormone deficiency, combined, 5, OMIM:182230, Septooptic dysplasia, OMIM:182230 |