Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Congenital hypothyroidismR-numbers: R145 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GH, TSH, LH, FSH, PRL deficiency, limited neck rotation, short cervical spine, sensorineural deafness, anterior pituitary may be normal, hypoplastic or enlarged, Pituitary hormone deficiency, combined, 3, 221750 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 |
Green in Pituitary hormone deficiencyR-numbers: R159 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pituitary hormone deficiency, combined, 3 (221750) |