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| Genomic newborn screening: BabyScreen+ v0.1147 | HAX1 | Zornitza Stark Marked gene: HAX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1147 | HAX1 | Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1147 | HAX1 | Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.1146 | HAX1 |
Zornitza Stark Tag treatable tag was added to gene: HAX1. Tag haematological tag was added to gene: HAX1. |
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| Genomic newborn screening: BabyScreen+ v0.1146 | HAX1 | Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.0 | HAX1 |
Zornitza Stark gene: HAX1 was added gene: HAX1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 |
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