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| Congenital Diarrhoea v1.6 | SLC51B | Zornitza Stark Phenotypes for gene: SLC51B were changed from Congenital diarrhoea; Cholestasis to Bile acid malabsorption, primary, 2, MIM# 619481; Congenital diarrhoea; Cholestasis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.5 | SLC51B | Zornitza Stark edited their review of gene: SLC51B: Changed phenotypes: Bile acid malabsorption, primary, 2, MIM# 619481, Congenital diarrhoea, Cholestasis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.78 | SLC51B | Zornitza Stark Marked gene: SLC51B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.78 | SLC51B | Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.78 | SLC51B |
Zornitza Stark gene: SLC51B was added gene: SLC51B was added to Congenital Diarrhoea. Sources: Expert Review Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC51B were set to 28898457 Phenotypes for gene: SLC51B were set to Congenital diarrhoea; Cholestasis Review for gene: SLC51B was set to RED Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis. Sources: Expert Review |
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