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| Genomic newborn screening: BabyScreen+ v0.1632 | WHRN | Zornitza Stark Tag deafness tag was added to gene: WHRN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.512 | WHRN | Zornitza Stark Marked gene: WHRN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.512 | WHRN | Zornitza Stark Gene: whrn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.512 | WHRN | Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.503 | WHRN |
Lilian Downie commented on gene: WHRN: Definitive gene disease association Usher, moderate evidence it can also cause a non syndromic hearing loss phenotype. Congenital hearing impairment, childhood onset visual loss Treatment supportive, clinical trials for retinitis pigmentosa *I think we should keep hearing loss genes on as it's part of traditional newborn screening* |
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| Genomic newborn screening: BabyScreen+ v0.503 | WHRN | Lilian Downie reviewed gene: WHRN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:26338283, PMID:22147658, PMID:17171570, PMID:21738389; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | WHRN |
Zornitza Stark gene: WHRN was added gene: WHRN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WHRN were set to 15841483; 28254438; 17171570; 12833159; 26338283; 20502675; 21738389; 27117407; 29270100; 22147658 Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084 |
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