Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Congenital hypothyroidismR-numbers: R145 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes GH, TSH, ACTH, variable gonadotrophin deficiencies, cerebellar abnormalities, anterior pituitary hypoplasia, etopic posterior pituitary, Pituitary hormone deficiency, combined, 4, 262700 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY |
Green in Pituitary hormone deficiencyR-numbers: R159 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Pituitary hormone deficiency, combined, 4 (262700) |