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| Pituitary hormone deficiency v0.44 | KCNQ1 |
Chirag Patel edited their review of gene: KCNQ1: Added comment: 2 missense variants in KCNQ1 [p.(Arg116Leu) or the p.(Pro369Leu)] identified in 3 unrelated families with multiple affected individuals with childhood onset of growth hormone deficiency (some with multiple pituitary hormone deficiencies). Gingival fibromatosis was only present if variant was maternally inherited. Variants segregated with disease and were absent in population databases. The electrophysiological properties of the mutated channels were examined in whole-cell patch-clamp analyses in HEK 293 cells, in which both mutated channels (p.Arg116Leu and p.Pro369Leu) gave higher current levels than the wild-type (WT) Kv7.1 channels, and were associated with reduced pituitary hormone secretion from AtT-20 cells. KCNQ1 is expressed in mouse in postnatal pituitary somatotrope/gonadotrope cells and hypothalamic GHRH neurons. KCNQ1 is expressed in the human pituitary and hypothalamus.; Changed rating: AMBER; Changed publications: 29097701; Changed phenotypes: Hypopituitarism, MONDO:0005152; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) |
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| Pituitary hormone deficiency v0.0 | GHRH |
Seb Lunke gene: GHRH was added gene: GHRH was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: GHRH was set to Unknown Publications for gene: GHRH were set to 15155578 Phenotypes for gene: GHRH were set to No OMIM number; ?Isolated growth hormone deficiency due to defect in GHRF |
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| Pituitary hormone deficiency v0.0 | GHRHR |
Seb Lunke gene: GHRHR was added gene: GHRHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157) |
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