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| Genomic newborn screening: ICoNS v0.27 | LHX3 | Zornitza Stark Marked gene: LHX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.27 | LHX3 | Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.27 | LHX3 | Zornitza Stark Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3 (MIM#221750) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.26 | LHX3 | Zornitza Stark Classified gene: LHX3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.26 | LHX3 | Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.25 | LHX3 | Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | LHX3 |
José Manuel González de Aledo Castillo gene: LHX3 was added gene: LHX3 was added to Genomic newborn screening: ICoNS. Sources: Literature Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Added comment: LHX3 – Well-established gene–disease association Not yet scored by ClinGen, definitive in GenCC for non-acquired Combined Pituitary Hormone Deficiency type 3 (CPHD3). AR CPHD3 is characterized by multiple anterior pituitary hormone deficiencies, including growth hormone, TSH, LH/FSH, prolactin, and variably ACTH. Affected individuals often have restricted neck mobility due to cervical spine anomalies and sensorineural hearing loss. CPHD3 can be severe and potentially life-threatening in infancy, due to recurrent hypoglycemia, prolonged jaundice, and metabolic instability. Typical presentation is from the newborn period through early infancy, though some patients are diagnosed later in childhood due to growth failure or pubertal delay. The vast majority of clinically confirmed CPHD3 cases carry biallelic pathogenic variants in LHX3, primarily loss-of-function or homeodomain-disrupting missense variants. Recurrent pathogenic variants such as T194R, W224Ter, C74 and V205L have been reported. Treatment: Lifelong hormone replacement tailored to specific deficiencies (levothyroxine, growth hormone, hydrocortisone when needed, and sex steroids during adolescence). Management also includes audiologic support and evaluation of cervical spine stability. Non-genetic confirmatory tests available: Pituitary hormone profile (GH, TSH, PRL, LH/FSH, with surveillance for evolving ACTH deficiency), pituitary MRI showing anterior pituitary hypoplasia, audiology testing, and cervical spine imaging. Conventional newborn screening: indirect through CH screening (universal) Genomic newborn screening: included in BabyScreen+, Babyseq, BeginNGS, FirstSteps, Generation Study, NewbornsinSA, Puglia. Sources: Literature |
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