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| Pituitary hormone deficiency v0.51 | KCNQ1 | Chirag Patel Classified gene: KCNQ1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.51 | KCNQ1 | Chirag Patel Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.46 | KCNQ1 | Chirag Patel Classified gene: KCNQ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.46 | KCNQ1 | Chirag Patel Gene: kcnq1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.45 | KCNQ1 | Chirag Patel Phenotypes for gene: KCNQ1 were changed from Pituitary hormone deficiency; Long QT syndrome 1 (192500) to Hypopituitarism, MONDO:0005152; Long QT syndrome 1 (192500) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.44 | KCNQ1 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.44 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.44 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.44 | KCNQ1 | Chirag Patel Classified gene: KCNQ1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.44 | KCNQ1 | Chirag Patel Gene: kcnq1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.43 | KCNQ1 | Chirag Patel reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.0 | KCNQ1 |
Seb Lunke gene: KCNQ1 was added gene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ1 were set to 29097701 Phenotypes for gene: KCNQ1 were set to Pituitary hormone deficiency; Long QT syndrome 1 (192500) |
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