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| BabyScreen+ newborn screening v0.2142 | AP1B1 | Zornitza Stark Marked gene: AP1B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2142 | AP1B1 | Zornitza Stark Gene: ap1b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2142 | AP1B1 | Zornitza Stark Classified gene: AP1B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2142 | AP1B1 | Zornitza Stark Gene: ap1b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2141 | AP1B1 | Zornitza Stark reviewed gene: AP1B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2141 | AP1B1 |
Lilian Downie gene: AP1B1 was added gene: AP1B1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1B1 were set to PMID:31630791, 31630788, 33452671 Phenotypes for gene: AP1B1 were set to Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150 Review for gene: AP1B1 was set to GREEN Added comment: Icthyosis progressive hearing loss (childhood) often detected newborn screening photophobia corneal scarring/keratitis variable dev delay part of copper metabolism pathway but no proven treatment Sources: Expert list |
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