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| Genomic newborn screening: BabyScreen+ v0.1434 | RPGR | Zornitza Stark Marked gene: RPGR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1434 | RPGR | Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1434 | RPGR | Zornitza Stark Phenotypes for gene: RPGR were changed from Retinitis pigmentosa to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1433 | RPGR | Zornitza Stark Classified gene: RPGR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1433 | RPGR | Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1432 | RPGR | Zornitza Stark reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1432 | RPGRIP1L | Zornitza Stark Marked gene: RPGRIP1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1432 | RPGRIP1L | Zornitza Stark Gene: rpgrip1l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1432 | RPGRIP1L | Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome; Meckel syndrome to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1431 | RPGRIP1L | Zornitza Stark Classified gene: RPGRIP1L as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1431 | RPGRIP1L | Zornitza Stark Gene: rpgrip1l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1430 | RPGRIP1L | Zornitza Stark reviewed gene: RPGRIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | RPGRIP1L |
Zornitza Stark gene: RPGRIP1L was added gene: RPGRIP1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Joubert syndrome; Meckel syndrome |
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| Genomic newborn screening: BabyScreen+ v0.0 | RPGR |
Zornitza Stark gene: RPGR was added gene: RPGR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPGR were set to Retinitis pigmentosa |
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