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| Pituitary hormone deficiency v2.61 | NKX2-1 | Eleanor Williams Classified gene: NKX2-1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.61 | NKX2-1 | Eleanor Williams Added comment: Comment on list classification: There is only 1 reported case to date of a patient with haploinsufficiency in NKX2-1 and pituitary hormone deficiency, so rating this gene as red for now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.61 | NKX2-1 | Eleanor Williams Gene: nkx2-1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.60 | NKX2-1 | Eleanor Williams Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978; brain-lung-thyroid syndrome, MONDO:0012593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.59 | NKX2-1 | Eleanor Williams Publications for gene: NKX2-1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.58 | NKX2-1 | Eleanor Williams Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.57 | NKX2-1 |
Eleanor Williams commented on gene: NKX2-1: Associated with Choreoathetosis, hypothyroidism, and neonatal respiratory distress #610978 (AD) in OMIM. Heterozygous mutations or haploinsufficiency of NKX2-1 are associated with the brain-lung-thyroid syndrome, Prasad et al 2019 (PMID:31707387) report a case of a patient with profound hypopituitarism in the early neonatal period in addition to undetectable tissue on thyroid ultrasonography, who was subsequently diagnosed with brain-lung-thyroid syndrome. She was found by CGH microarray to have 2 de novo deletions, a 4.9-Mb deletion in 14q13.2-q21.1 and a 404-kb deletion in 3 p12.3-p13. The 14q deletion contains 21 genes including NKX2-1. The deletion of this gene was thought to explain the phenotype. |
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| Pituitary hormone deficiency v2.15 | NKX2-1 | Eleanor Williams reviewed gene: NKX2-1: Rating: ; Mode of pathogenicity: ; Publications: 31707387; Phenotypes: BRAIN-THYROID-LUNG SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.14 | NKX2-1 |
Eleanor Williams gene: NKX2-1 was added gene: NKX2-1 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: NKX2-1 was set to |
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